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
DNAJC18	202052	broad.mit.edu	37	5	138760756	138760756	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:138760756G>T	ENST00000302060.5	-	5	687	c.607C>A	c.(607-609)Cgt>Agt	p.R203S		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	203					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCCGTCGACGGTAATAGTAA	0.463000													60	120					3.30712e-30	4.11047e-30	1	1	0
FMO5	2330	broad.mit.edu	37	1	146696488	146696488	+	Splice_Site	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:146696488T>C	ENST00000254090.4	-	2	522	c.135_splice	c.e2+1	p.Q45_splice	FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000441068.2_Splice_Site_p.Q45_splice|FMO5_ENST00000369272.3_Splice_Site_p.Q45_splice	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	45						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TGTATGTACCTGGAACCTCCA	0.522000													28	74					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852583	40852583	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:40852583G>A	ENST00000254691.5	+	3	1348	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	383					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTGCCACCATGCTGTGTTCAG	0.453000													19	40					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27977735	27977735	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:27977735T>C	ENST00000269033.3	-	12	1233	c.1082A>G	c.(1081-1083)gAt>gGt	p.D361G	SSH2_ENST00000540801.1_Missense_Mutation_p.D388G|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	361	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCTCTTCATCATATACCCG	0.418000													39	68					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245848957	245848957	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:245848957C>A	ENST00000366518.4	+	9	1633	c.1529C>A	c.(1528-1530)cCt>cAt	p.P510H	KIF26B_ENST00000407071.2_Missense_Mutation_p.P891H			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	891	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)			GACTTTGTCCCTATCGTGCCA	0.652000													8	32					0.0477658	0.0483166	1	1	0
FLG2	388698	broad.mit.edu	37	1	152326153	152326153	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:152326153T>A	ENST00000388718.5	-	3	4181	c.4109A>T	c.(4108-4110)cAc>cTc	p.H1370L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1370							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTTGGCTGTGAGTTTGTTC	0.488000													8	156					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14108321	14108321	+	Missense_Mutation	SNP	A	A	C	rs149847070	by1000genomes	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:14108321A>C	ENST00000235372.7	+	8	4887	c.4031A>C	c.(4030-4032)aAt>aCt	p.N1344T	PRDM2_ENST00000343137.4_Missense_Mutation_p.N1143T|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.N1143T|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.N1344T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1344						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GGTGTCGACAATATGCCGGAG	0.448000													45	111					0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54985903	54985903	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:54985903T>C	ENST00000316881.4	-	2	668	c.619A>G	c.(619-621)Act>Gct	p.T207A	TRIM25_ENST00000537230.1_Missense_Mutation_p.T207A	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	207	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TACATGACAGTTAGTTTGTGC	0.562000													28	76					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65480037	65480037	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:65480037G>A	ENST00000519389.1	+	19	3473	c.3294G>A	c.(3292-3294)atG>atA	p.M1098I	HEPH_ENST00000419594.1_Missense_Mutation_p.M855I|HEPH_ENST00000343002.2_Missense_Mutation_p.M1044I|HEPH_ENST00000374727.3_Missense_Mutation_p.M1047I|HEPH_ENST00000441993.2_Missense_Mutation_p.M1047I|HEPH_ENST00000336279.5_Missense_Mutation_p.M777I			Q9BQS7	HEPH_HUMAN	hephaestin	1044					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATGGCTGATGCACTGCCATG	0.517000													19	15					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871058	170871058	+	Silent	SNP	G	G	A	rs113440919		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:170871058G>A	ENST00000392092.2	+	3	513	c.234G>A	c.(232-234)caG>caA	p.Q78Q	TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	78	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577000													4	54					0	0	1	0	0
ZBTB18	10472	broad.mit.edu	37	1	244218342	244218342	+	Silent	SNP	G	G	A	rs147690899		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:244218342G>A	ENST00000358704.4	+	2	1415	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		CCACGTGCTCGCTGTGTGGGA	0.632000													32	72					0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916638	42916638	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:42916638C>A	ENST00000316161.4	-	1	995	c.671G>T	c.(670-672)cGg>cTg	p.R224L	CYP8B1_ENST00000437102.1_Missense_Mutation_p.R224L|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	224					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TAGCCACTCCCGGGGCCACAG	0.567000													18	17					1.96292e-10	2.17551e-10	1	1	0
AGPAT2	10555	broad.mit.edu	37	9	139571981	139571981	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:139571981G>T	ENST00000371696.2	-	2	275	c.210C>A	c.(208-210)ttC>ttA	p.F70L	AGPAT2_ENST00000538402.1_Missense_Mutation_p.F70L|AGPAT2_ENST00000371694.3_Missense_Mutation_p.F70L	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	70					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		AAAAGTACTTGAAGCTTCGCA	0.657000													20	42					3.51602e-12	3.95391e-12	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105406587	105406587	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:105406587G>A	ENST00000333244.5	-	7	15320	c.15201C>T	c.(15199-15201)gaC>gaT	p.D5067D	AHNAK2_ENST00000557457.1_Silent_p.D65D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5067						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTACCACCGTCACTGCTGG	0.572000													42	51					0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79254236	79254236	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:79254236T>A	ENST00000272324.5	+	4	456	c.272T>A	c.(271-273)cTg>cAg	p.L91Q	REG3G_ENST00000393897.2_Missense_Mutation_p.L91Q|REG3G_ENST00000409471.1_Intron	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	91	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						GTGTCCTCCCTGGTGAGGAGC	0.537000													62	134					0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128350255	128350255	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:128350255G>T	ENST00000392668.3	-	8	1022	c.954C>A	c.(952-954)ttC>ttA	p.F318L	ETS1_ENST00000526145.1_Intron|ETS1_ENST00000535549.1_Missense_Mutation_p.F58L|ETS1_ENST00000319397.5_Missense_Mutation_p.F274L|ETS1_ENST00000345075.4_Intron|ETS1_ENST00000531611.1_Intron	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	274					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCAGGCTGTTGAAAGATGACT	0.552000													10	66					5.16669e-11	5.73661e-11	1	1	0
C9orf163	158055	broad.mit.edu	37	9	139379139	139379139	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:139379139G>A	ENST00000354376.1	+	1	1193	c.239G>A	c.(238-240)cGc>cAc	p.R80H		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	80							protein binding			kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		CAGCAGGGCCGCAGGCGGTGC	0.652000													17	31					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26385404	26385404	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:26385404A>G	ENST00000356709.4	+	3	367	c.256A>G	c.(256-258)Aga>Gga	p.R86G	BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.R86G|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R86G|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R86G	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	86	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TAAGGGTGGGAGAGAGAGAAC	0.537000													27	50					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34611649	34611649	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:34611649C>T	ENST00000373973.3	+	11	1568	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D	CNBD2_ENST00000349339.1_Silent_p.D461D|CNBD2_ENST00000538900.1_Intron					cyclic nucleotide binding domain containing 2																		ACAATGATGACGAGATGATAA	0.403000													31	64					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	10022970	10022970	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:10022970C>T	ENST00000264784.3	-	1	137	c.84G>A	c.(82-84)ggG>ggA	p.G28G	SLC2A9_ENST00000506583.1_Intron|SLC2A9_ENST00000309065.3_Intron	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	28					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CCCTCCCTGGCCCTGGAGGCC	0.587000													18	58					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190927173	190927173	+	Silent	SNP	A	A	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:190927173A>C	ENST00000260950.4	-	1	282	c.150T>G	c.(148-150)tcT>tcG	p.S50S	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	50					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CTATTCTTGAAGATTTAGTGT	0.378000													14	103					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68720540	68720540	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:68720540G>T	ENST00000303145.7	-	3	481	c.395C>A	c.(394-396)tCa>tAa	p.S132*	MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000411698.2_Nonsense_Mutation_p.S132*|MDM1_ENST00000430606.2_Nonsense_Mutation_p.S132*|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000393543.3_3'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	132						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTCCACATCTGAAGCCCCTTC	0.408000													29	22					3.73148e-12	4.18853e-12	1	1	0
FAM83G	644815	broad.mit.edu	37	17	18881947	18881947	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:18881947G>A	ENST00000388995.6	-	5	1255	c.1032C>T	c.(1030-1032)ctC>ctT	p.L344L	SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Silent_p.L344L|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Silent_p.L344L|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	344										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGGGGTTGACGAGCTTCTTGG	0.612000													5	175					0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99490134	99490134	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:99490134C>G	ENST00000355947.2	-	7	1284	c.1155G>C	c.(1153-1155)gaG>gaC	p.E385D	TRIM4_ENST00000349062.2_Missense_Mutation_p.E359D	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	385	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TATCTCTACTCTCAACTTCCC	0.478000													71	129					0	0	1	0	0
CHMP6	79643	broad.mit.edu	37	17	78972931	78972931	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:78972931C>T	ENST00000325167.5	+	8	662	c.584C>T	c.(583-585)gCg>gTg	p.A195V		NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	195					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding	p.A195V(1)		lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCCAGGCAGGCGGAGCTGGTG	0.617000													26	71					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8006040	8006040	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:8006040G>T	ENST00000344293.5	+	3	773	c.567G>T	c.(565-567)ctG>ctT	p.L189L		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	189					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTGAAGAACTGCCAGCCATGA	0.448000													19	20					4.26978e-12	4.78402e-12	1	1	0
MICAL1	64780	broad.mit.edu	37	6	109771207	109771207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:109771207C>T	ENST00000368952.4	-	9	1620	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	MICAL1_ENST00000358807.3_Missense_Mutation_p.E425K|MICAL1_ENST00000358577.3_Missense_Mutation_p.E339K			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	425					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCAGCGCCCTCTGCCCACCGC	0.612000													109	281					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30857392	30857392	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:30857392C>T	ENST00000403066.1	-	12	1092	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	SEC14L3_ENST00000415957.2_Missense_Mutation_p.R270Q|SEC14L3_ENST00000401751.1_Missense_Mutation_p.R270Q|SEC14L3_ENST00000215812.4_Missense_Mutation_p.R329Q|SEC14L3_ENST00000540910.1_Missense_Mutation_p.R252Q|SEC14L3_ENST00000539629.1_Missense_Mutation_p.R270Q|SEC14L3_ENST00000402286.1_Missense_Mutation_p.R252Q			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	329						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CTCCCCTGCCCGCTGTCGCTC	0.607000													22	48					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166003408	166003408	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:166003408C>T	ENST00000360093.3	-	12	2003	c.1512G>A	c.(1510-1512)aaG>aaA	p.K504K	SCN3A_ENST00000409101.3_Silent_p.K504K|SCN3A_ENST00000283254.7_Silent_p.K504K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	504						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTCTTCTTTTCTTCCTTCGGT	0.438000													39	110					0	0	1	0	0
ZBTB18	10472	broad.mit.edu	37	1	244217659	244217659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:244217659C>T	ENST00000358704.4	+	2	732	c.583C>T	c.(583-585)Cga>Tga	p.R195*		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18									p.R186*(2)									CATGTGGATGCGATTGCCCTC	0.572000													16	66					0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905096	15905096	+	Missense_Mutation	SNP	C	C	T	rs142693914		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:15905096C>T	ENST00000308940.8	+	1	336	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CATCATCCCGCGCATGCTGGC	0.617000													33	56					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130288963	130288963	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:130288963G>C	ENST00000257359.6	-	2	1651	c.945C>G	c.(943-945)atC>atG	p.I315M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	315	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TGGTGAGCAGGATGGCCGTGT	0.627000													44	134					0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135553528	135553528	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:135553528C>T	ENST00000372146.4	+	2	1086	c.522C>T	c.(520-522)tgC>tgT	p.C174C	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	174					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CCATGGGTTGCGATGCTAATG	0.532000													35	74					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	906584	906584	+	Splice_Site	SNP	T	T	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:906584T>A	ENST00000314167.4	-	3	318		c.e3-2		GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase						cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TAATAGCCTCTGTATCAGGAA	0.448000													16	22					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54955078	54955078	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:54955078G>A	ENST00000173898.7	+	12	2033	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	TRO_ENST00000375022.4_Missense_Mutation_p.E641K|TRO_ENST00000420798.2_Missense_Mutation_p.E172K|TRO_ENST00000375041.2_Missense_Mutation_p.E244K|TRO_ENST00000399736.1_Missense_Mutation_p.E244K|TRO_ENST00000319167.8_Missense_Mutation_p.E641K	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	641	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCAGTACCGCGAGGCAGTGGA	0.512000													20	17					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582534	179582534	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:179582534C>A	ENST00000589042.1	-	87	25291	c.25067G>T	c.(25066-25068)cGc>cTc	p.R8356L	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R8039L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R7112L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8039	Ig-like 66.						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)			TGGAAGTTTGCGCGCTGTAAA	0.373000													6	30					0.217242	0.217242	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777333	18777333	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:18777333G>A	ENST00000380548.4	+	19	3445	c.3106G>A	c.(3106-3108)Gga>Aga	p.G1036R		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1036						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGGCTGGCCCGGAGAGCTGCT	0.706000													5	6					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11675891	11675891	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:11675891G>A	ENST00000423059.3	-	2	1139	c.888C>T	c.(886-888)gcC>gcT	p.A296A		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	296						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TAAGCTCGCGGGCTTCTGGAT	0.463000										HNSCC(18;0.044)			49	90					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153216400	153216400	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:153216400A>G	ENST00000310441.7	-	23	6533	c.5567T>C	c.(5566-5568)cTg>cCg	p.L1856P	HCFC1_ENST00000369984.4_Missense_Mutation_p.L1901P|HCFC1_ENST00000354233.3_Missense_Mutation_p.L1787P	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1856					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGGCTGCAGCTCCTGCTT	0.562000													128	72					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247920946	247920946	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:247920946C>A	ENST00000408896.2	-	1	1036	c.763G>T	c.(763-765)Gcc>Tcc	p.A255S		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A255S(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACGGCGATGGCTGTGCCGTAA	0.522000													14	32					0.000219431	0.000224551	1	1	0
NUTM2G	441457	broad.mit.edu	37	9	99697674	99697674	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:99697674G>A	ENST00000354649.3	+	3	1493	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.A260T	NM_001045477.2	NP_001038942.1			NUT family member 2G																		ACTGTGGCGGGCCATGCGGGA	0.627000													4	102					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44450422	44450422	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:44450422G>A	ENST00000360029.3	-	1	402	c.119C>T	c.(118-120)tCg>tTg	p.S40L		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	40						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S40L(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						AGGGAAGGGCGAGGGTGCGCA	0.677000										HNSCC(17;0.042)			10	18					0	0	1	0	0
HLA-B	3106	broad.mit.edu	37	6	31323943	31323943	+	Splice_Site	SNP	C	C	T	rs45516893		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:31323943C>T	ENST00000412585.2	-	3	648		c.e3+1			NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GCCCCTGGTACCAGCGCGCTC	0.647000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				12	12					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140361907	140361907	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:140361907G>A	ENST00000406427.1	-	26	3237	c.2901C>T	c.(2899-2901)ggC>ggT	p.G967G	PNPLA7_ENST00000277531.4_Silent_p.G942G|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Silent_p.G548G	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	942	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCTTGAGAACGCCCACCTGGG	0.642000													28	64					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49735362	49735362	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:49735362C>T	ENST00000327697.6	+	6	531	c.387C>T	c.(385-387)tgC>tgT	p.C129C	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	129	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTACCACATGCGTGTACAAAG	0.562000													7	254					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21060917	21060917	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:21060917C>T	ENST00000261383.3	-	31	4433	c.4434G>A	c.(4432-4434)gcG>gcA	p.A1478A	DNAH3_ENST00000415178.1_Silent_p.A1478A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1478	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATCAAAGCACGCCCATGCTC	0.517000													14	36					0	0	1	0	0
RNASE12	493901	broad.mit.edu	37	14	21058544	21058544	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:21058544G>A	ENST00000556526.1	-	1	438	c.339C>T	c.(337-339)ggC>ggT	p.G113G	RNASE11_ENST00000335950.4_5'UTR|RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|AL163195.3_ENST00000555283.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	113						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		GGTATCTTGTGCCTTCAATGA	0.463000													30	64					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1043811	1043811	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:1043811A>G	ENST00000263094.6	+	10	1249	c.1018A>G	c.(1018-1020)Aac>Gac	p.N340D	ABCA7_ENST00000435683.2_Missense_Mutation_p.N202D|ABCA7_ENST00000433129.1_Missense_Mutation_p.N340D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	340					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTTCATGAACGACAGTTC	0.637000													94	231					0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94252690	94252690	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:94252690C>T	ENST00000415788.2	-	5	605	c.518G>A	c.(517-519)cGc>cAc	p.R173H	SGCE_ENST00000445866.2_Missense_Mutation_p.R137H|SGCE_ENST00000428696.2_Missense_Mutation_p.R137H|SGCE_ENST00000447873.1_Missense_Mutation_p.R137H|SGCE_ENST00000265735.7_Missense_Mutation_p.R137H|SGCE_ENST00000437425.2_Missense_Mutation_p.R96H			O43556	SGCE_HUMAN	sarcoglycan, epsilon	137					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCAAAGGTGCGCCTGTTGTA	0.274000													8	16					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191894585	191894585	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:191894585G>T	ENST00000392320.2	-	24	2542	c.2228C>A	c.(2227-2229)tCt>tAt	p.S743Y	STAT4_ENST00000358470.4_Missense_Mutation_p.S743Y|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	743					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGAATAAGGAGACTTCATCTA	0.328000													12	202					2.32078e-09	2.54004e-09	1	1	0
CHD3	1107	broad.mit.edu	37	17	7813774	7813774	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:7813774C>T	ENST00000380358.4	+	38	5797	c.5796C>T	c.(5794-5796)agC>agT	p.S1932S	CHD3_ENST00000330494.7_Silent_p.S1873S|CHD3_ENST00000358181.4_Silent_p.S1839S	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1873	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGTTGCTGAGCGACATGAAGG	0.612000													37	122					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54142051	54142051	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:54142051C>T	ENST00000265572.3	-	4	1246	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	OPRK1_ENST00000524278.1_Missense_Mutation_p.A228T|OPRK1_ENST00000520287.1_Missense_Mutation_p.A317T|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	317					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TAGCCTAAGGCGATGCAGAAG	0.512000													19	33					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087490	47087490	+	Missense_Mutation	SNP	G	G	A	rs148351061		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:47087490G>A	ENST00000374312.1	+	3	1126	c.707G>A	c.(706-708)cGc>cAc	p.R236H	NPY4R_ENST00000395716.1_Missense_Mutation_p.R236H	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.R236L(1)									TGTTATGCACGCATCTACCGG	0.607000													30	178					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13098248	13098248	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:13098248C>T	ENST00000399002.2	+	8	1302	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	343					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AGTATTGGGGCCGTGGGCCCA	0.502000													59	109					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155385595	155385595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:155385595C>T	ENST00000368346.3	-	6	6587	c.5948G>A	c.(5947-5949)cGt>cAt	p.R1983H	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1983H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1983					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTTTGGGGGACGTGGGGGCTT	0.453000													55	152					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25301151	25301151	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:25301151G>T	ENST00000400358.4	+	21	2872	c.2815G>T	c.(2815-2817)Gat>Tat	p.D939Y	SGSM1_ENST00000400359.4_Missense_Mutation_p.D994Y	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	994	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CATTCTGGATGATGGTGAGTG	0.512000													50	137					4.78724e-31	5.98649e-31	1	1	0
DISP2	85455	broad.mit.edu	37	15	40661397	40661397	+	Silent	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:40661397C>G	ENST00000267889.3	+	8	3171	c.3084C>G	c.(3082-3084)ctC>ctG	p.L1028L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1028					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAGTGGGCCTCTCAGTAGACT	0.607000													54	100					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33568398	33568398	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:33568398C>G	ENST00000262873.7	+	6	578	c.486C>G	c.(484-486)ttC>ttG	p.F162L	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	120	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAGGCCTCTTCTGTGTCACCA	0.517000													100	197					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33596151	33596151	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:33596151T>C	ENST00000504830.1	-	17	2877	c.2542A>G	c.(2542-2544)Act>Gct	p.T848A	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T763A	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	848	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAATGGGCAGTTTGGCGGCGG	0.522000										HNSCC(64;0.19)			23	65					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20180627	20180627	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:20180627A>G	ENST00000400331.5	-	7	2809	c.2501T>C	c.(2500-2502)cTa>cCa	p.L834P	MACC1_ENST00000332878.4_Missense_Mutation_p.L834P|MACC1_ENST00000589011.1_Missense_Mutation_p.L834P	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	834					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AGAATTTACTAGTATTAAAAC	0.373000													32	72					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103234330	103234330	+	Splice_Site	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:103234330C>G	ENST00000428762.1	-	27	3871		c.e27-1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						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)		CATAAAAGTTCTAATAGAAAC	0.343000													12	24					0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156777036	156777036	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:156777036G>A	ENST00000392306.2	-	8	1273	c.1134C>T	c.(1132-1134)caC>caT	p.H378H	SH2D2A_ENST00000368199.3_Silent_p.H368H|SH2D2A_ENST00000368198.3_Silent_p.H350H	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	368	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAGAAAGATTGTGGGGGAGGG	0.592000													23	49					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603302	48603302	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:48603302C>A	ENST00000323776.5	+	14	2134	c.1972C>A	c.(1972-1974)Ctg>Atg	p.L658M	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.L621M	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	621					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GTACATGACCCTGCCCGCCAA	0.607000													8	146					0.000157383	0.000161324	1	1	0
GRIK2	2898	broad.mit.edu	37	6	102483287	102483287	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:102483287A>C	ENST00000369138.1	+	14	2647	c.2157A>C	c.(2155-2157)aaA>aaC	p.K719N	GRIK2_ENST00000318991.6_Missense_Mutation_p.K719N|GRIK2_ENST00000369137.3_Missense_Mutation_p.K643N|GRIK2_ENST00000413795.1_Missense_Mutation_p.K719N|GRIK2_ENST00000369134.4_Missense_Mutation_p.K670N|GRIK2_ENST00000421544.1_Missense_Mutation_p.K719N	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	719					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGCTGGTCAAAAGTAATGAAG	0.418000													32	103					0	0	1	0	0
GPR31	2853	broad.mit.edu	37	6	167570658	167570658	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:167570658T>C	ENST00000366834.1	-	1	1159	c.662A>G	c.(661-663)cAg>cGg	p.Q221R		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	221						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GACCAGTGCCTGGGCCCGCTG	0.582000													38	63					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38569176	38569176	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:38569176G>T	ENST00000423485.1	-	7	782	c.624C>A	c.(622-624)ccC>ccA	p.P208P		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	208					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTCCATTGAAGGGCTTGAGTT	0.373000													8	24					0.000274275	0.000279742	1	1	0
ATP2B4	493	broad.mit.edu	37	1	203708958	203708958	+	Silent	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:203708958A>G	ENST00000357681.5	+	21	4717	c.3594A>G	c.(3592-3594)ctA>ctG	p.L1198L	ATP2B4_ENST00000391954.2_3'UTR|ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000367219.3_3'UTR|ATP2B4_ENST00000367218.3_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1234					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACAGCTCTCTACAGAGCCTAG	0.468000													13	47					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41519418	41519418	+	Silent	SNP	G	G	A	rs116148295	by1000genomes	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:41519418G>A	ENST00000396942.1	-	41	5603	c.5520C>T	c.(5518-5520)gcC>gcT	p.A1840A	RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000379758.2_Intron|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000347528.4_Silent_p.A1840A|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000289734.7_Silent_p.A1840A|ANK1_ENST00000265709.8_Silent_p.A1881A|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000314214.8_Silent_p.A115A|ANK1_ENST00000522543.1_Silent_p.A115A|ANK1_ENST00000522231.1_Silent_p.A115A|ANK1_ENST00000352337.4_Intron			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1840	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGCGGCATCGGCGCTGGACA	0.572000													28	47					0	0	1	0	0
PNKP	11284	broad.mit.edu	37	19	50364513	50364513	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:50364513C>T	ENST00000322344.3	-	17	1667	c.1558G>A	c.(1558-1560)Gag>Aag	p.E520K	PNKP_ENST00000600573.1_Missense_Mutation_p.E489K|PNKP_ENST00000596014.1_Missense_Mutation_p.E520K|PNKP_ENST00000600910.1_3'UTR	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	520					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCTCAGCCCTCGGAGAACTGG	0.652000								Other BER factors					47	97					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470808	10470808	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:10470808G>A	ENST00000382483.3	-	4	1023	c.800C>T	c.(799-801)cCg>cTg	p.P267L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	267					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCTGCCTGGCGGAGACCGCGA	0.632000													36	71					0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14601329	14601329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:14601329G>T	ENST00000274217.3	+	3	352	c.232G>T	c.(232-234)Gga>Tga	p.G78*		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	78										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CAGGTGGATTGGATATCTGCA	0.308000													10	31					3.86212e-05	4.01922e-05	1	1	0
ITPRIP	85450	broad.mit.edu	37	10	106074553	106074553	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:106074553C>T	ENST00000278071.2	-	3	1709	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q	ITPRIP_ENST00000358187.2_Silent_p.Q419Q|ITPRIP_ENST00000337478.1_Silent_p.Q419Q	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	419						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCAGGCGGCTCTGCTTGGAGA	0.652000													15	23					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109779932	109779932	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:109779932C>G	ENST00000457511.2	+	19	2826	c.2555C>G	c.(2554-2556)cCg>cGg	p.P852R	MYO16_ENST00000356711.2_Intron|MYO16_ENST00000357550.2_Intron			Q9Y6X6	MYO16_HUMAN	myosin XVI	1827	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTCGTGTTCCGGGCTCGCGC	0.602000													5	15					0	0	1	0	0
EGLN2	112398	broad.mit.edu	37	19	41312517	41312517	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:41312517C>A	ENST00000593726.1	+	2	1929	c.901C>A	c.(901-903)Ccc>Acc	p.P301T	EGLN2_ENST00000594140.1_Missense_Mutation_p.P19T|RAB4B-EGLN2_ENST00000594136.1_3'UTR|CTC-490E21.12_ENST00000601627.1_Intron|EGLN2_ENST00000406058.2_Missense_Mutation_p.P301T|EGLN2_ENST00000303961.4_Missense_Mutation_p.P301T			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	301	Fe2OG dioxygenase.				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	CGTTGACAATCCCCACGGCGA	0.607000											OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	88					1.23713e-20	1.50415e-20	1	1	0
PVRIG	79037	broad.mit.edu	37	7	99817998	99817998	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:99817998G>A	ENST00000317271.2	+	3	743	c.380G>A	c.(379-381)tGc>tAc	p.C127Y	GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	127						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCAGCCCCTGCGCCAACACC	0.682000													4	7					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109371714	109371714	+	Splice_Site	SNP	A	A	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:109371714A>C	ENST00000283195.6	+	17	2591	c.2466_splice	c.e17+1	p.K822_splice		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	822					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAGGCCATTAAGGTAAGTCAC	0.378000													9	208					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31364640	31364640	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:31364640C>T	ENST00000355683.5	-	16	2334	c.2119G>A	c.(2119-2121)Gct>Act	p.A707T	STRN3_ENST00000357479.5_Missense_Mutation_p.A791T	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	791					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TTGGCAAGAGCATCAGCTCCT	0.388000													3	11					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32212724	32212724	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:32212724C>T	ENST00000346541.3	+	7	1411	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	CBFA2T2_ENST00000342704.5_Nonsense_Mutation_p.Q283*|CBFA2T2_ENST00000397800.1_Nonsense_Mutation_p.Q263*|CBFA2T2_ENST00000375279.2_Nonsense_Mutation_p.Q292*|CBFA2T2_ENST00000359606.3_Nonsense_Mutation_p.Q302*|CBFA2T2_ENST00000491618.1_3'UTR	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	292						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TCCACCTCTTCAGCATTACAC	0.527000													25	40					0	0	1	0	0
MYL9	10398	broad.mit.edu	37	20	35176500	35176500	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:35176500A>G	ENST00000279022.2	+	3	354	c.250A>G	c.(250-252)Acc>Gcc	p.T84A	MYL9_ENST00000346786.2_Intron|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	84					axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CATCAACTTCACCATGTTCCT	0.607000													18	36					0	0	1	0	0
SAE1	10055	broad.mit.edu	37	19	47653537	47653537	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:47653537G>C	ENST00000413379.3	+	3	391	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	SAE1_ENST00000598840.1_Missense_Mutation_p.E97Q|SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000392776.3_Missense_Mutation_p.E97Q|SAE1_ENST00000270225.7_Missense_Mutation_p.E97Q	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	97					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		AGCCTCTTTGGAGCGAGCTCA	0.453000													50	105					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95168667	95168667	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:95168667G>A	ENST00000371501.4	-	7	728	c.606C>T	c.(604-606)cgC>cgT	p.R202R	MYOF_ENST00000359263.4_Silent_p.R202R|MYOF_ENST00000371502.4_Silent_p.R202R|MYOF_ENST00000358334.5_Silent_p.R202R|MYOF_ENST00000371489.1_Silent_p.R202R			Q9NZM1	MYOF_HUMAN	myoferlin	202	C2 2.|Necessary for interaction with EHD2.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCACTCGGACGCGGATCTGCA	0.512000													43	92					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370191	35370191	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:35370191T>C	ENST00000373347.1	-	3	1062	c.794A>G	c.(793-795)gAc>gGc	p.D265G	DLGAP3_ENST00000235180.4_Missense_Mutation_p.D265G			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	265					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GTCCAAGTTGTCATCGGAACT	0.662000													70	126					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5055756	5055756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:5055756G>A	ENST00000381652.3	+	8	1518	c.1024G>A	c.(1024-1026)Gta>Ata	p.V342I	JAK2_ENST00000544510.1_Missense_Mutation_p.V193I|JAK2_ENST00000539801.1_Missense_Mutation_p.V342I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	342	FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AAGCCGAGTTGTAACTATCCA	0.294000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				9	23					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32154621	32154621	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:32154621C>A	ENST00000375050.4	-	7	1352	c.1082G>T	c.(1081-1083)gGg>gTg	p.G361V		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	361							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TCCGTTGAGCCCAGGCATCCC	0.522000													24	58					1.77063e-15	2.05126e-15	1	1	0
ERMP1	79956	broad.mit.edu	37	9	5810094	5810094	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:5810094A>G	ENST00000339450.5	-	8	1554	c.1465T>C	c.(1465-1467)Tat>Cat	p.Y489H	ERMP1_ENST00000381506.3_Missense_Mutation_p.Y265H|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.Y67H	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	489					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		ACGGAGACATAGAAGTGGTTA	0.373000													23	81					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29747238	29747238	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:29747238C>T	ENST00000375398.2	-	40	7032	c.6583G>A	c.(6583-6585)Gaa>Aaa	p.E2195K	PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.E1769K|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.E2195K|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.E1109K			O95425	SVIL_HUMAN	supervillin	2195	HP.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCGTTGTATTCATCCCTCGTC	0.577000													27	43					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590001	140590001	+	Missense_Mutation	SNP	G	G	A	rs138442827	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140590001G>A	ENST00000239450.2	+	1	1711	c.1522G>A	c.(1522-1524)Gcg>Acg	p.A508T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A171T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		508	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCATCAACGCGGACAACGG	0.677000													76	179					0	0	1	0	0
UFL1	23376	broad.mit.edu	37	6	96997424	96997424	+	Silent	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:96997424T>C	ENST00000369278.4	+	14	1723	c.1657T>C	c.(1657-1659)Tta>Cta	p.L553L		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	553					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										TAACATTAGGTTATTTGAAAA	0.318000													11	33					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991258	144991258	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:144991258C>T	ENST00000322810.4	-	32	13311	c.13142G>A	c.(13141-13143)cGc>cAc	p.R4381H	PLEC_ENST00000356346.3_Missense_Mutation_p.R4230H|PLEC_ENST00000398774.2_Missense_Mutation_p.R4212H|PLEC_ENST00000436759.2_Missense_Mutation_p.R4271H|PLEC_ENST00000527096.1_Missense_Mutation_p.R4267H|PLEC_ENST00000354589.3_Missense_Mutation_p.R4244H|PLEC_ENST00000345136.3_Missense_Mutation_p.R4244H|PLEC_ENST00000357649.2_Missense_Mutation_p.R4248H|PLEC_ENST00000354958.2_Missense_Mutation_p.R4222H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4381	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGAACGGGAGCGGAAACCACC	0.667000													30	67					0	0	1	0	0
NDUFS2	4720	broad.mit.edu	37	1	161173235	161173235	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:161173235G>A	ENST00000392179.4	+	2	343	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	NDUFS2_ENST00000367993.3_Missense_Mutation_p.R35Q|NDUFS2_ENST00000476409.2_Intron	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	35					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	AGAGGTGTTCGGCAGTGGCAG	0.537000													16	27					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5232626	5232626	+	Missense_Mutation	SNP	C	C	T	rs10615436		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:5232626C>T	ENST00000274181.7	+	12	1985	c.1847C>T	c.(1846-1848)cCc>cTc	p.P616L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	616	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCACCAACCCCAAGTAAGTA	0.527000													27	67					0	0	1	0	0
TRAV10	28676	broad.mit.edu	37	14	22294132	22294132	+	RNA	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:22294132C>T	ENST00000390432.2	+	0	272																											AACACAAAGTCGAACGGAAGA	0.478000													36	43					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32207330	32207330	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:32207330C>T	ENST00000346541.3	+	5	992	c.455C>T	c.(454-456)aCa>aTa	p.T152I	CBFA2T2_ENST00000342704.5_Missense_Mutation_p.T143I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.T123I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.T152I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.T162I|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.T123I|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.T123I	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	152	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CAGAACTCAACAGTGACAATT	0.333000													17	41					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6692405	6692405	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:6692405C>T	ENST00000309577.6	-	26	4182	c.4019G>A	c.(4018-4020)cGt>cAt	p.R1340H	CHD4_ENST00000357008.2_Missense_Mutation_p.R1340H|CHD4_ENST00000544040.1_Missense_Mutation_p.R1333H|CHD4_ENST00000544484.1_Missense_Mutation_p.R1337H|CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1340					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GACCTGTTTACGGATTCTTTT	0.567000													62	151					0	0	1	0	0
SCCPDH	51097	broad.mit.edu	37	1	246929383	246929383	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:246929383A>G	ENST00000366510.3	+	11	1502	c.1126A>G	c.(1126-1128)Ata>Gta	p.I376V		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	376						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GGCTACCCCCATAGCTATGGT	0.403000													45	97					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7728108	7728108	+	Silent	SNP	A	A	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:7728108A>C	ENST00000486284.1	+	10	3037	c.2763A>C	c.(2761-2763)acA>acC	p.T921T	GRM7_ENST00000403881.1_Intron|GRM7_ENST00000402647.2_Silent_p.T921T|GRM7_ENST00000357716.4_Intron|GRM7_ENST00000389336.4_Intron	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	0					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCCCACCAACAGTATAGCTTT	0.323000													7	18					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													6	57					0	0	1	0	0
GBA2	57704	broad.mit.edu	37	9	35737883	35737883	+	Silent	SNP	G	G	A	rs143345363	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:35737883G>A	ENST00000378094.4	-	16	2880	c.2367C>T	c.(2365-2367)aaC>aaT	p.N789N	GBA2_ENST00000378103.3_Silent_p.N789N|GBA2_ENST00000378088.1_Silent_p.N90N|GBA2_ENST00000545786.1_Silent_p.N795N			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	789					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGCCTGGACGTTCAGCTCAA	0.547000													17	42					0	0	1	0	0
COLCA1	399948	broad.mit.edu	37	11	111166902	111166902	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:111166902C>T	ENST00000532918.1	-	2	2707	c.302G>A	c.(301-303)aGa>aAa	p.R101K	C11orf92_ENST00000540738.1_Missense_Mutation_p.R101K|C11orf92_ENST00000355430.4_Missense_Mutation_p.R101K																endometrium(1)|large_intestine(1)|lung(1)	3						ATCTAGTTTTCTGAAATCGCT	0.453000													20	82					0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	210968862	210968862	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:210968862C>A	ENST00000281772.9	-	4	1657	c.1394G>T	c.(1393-1395)aGc>aTc	p.S465I	KANSL1L_ENST00000452086.1_Missense_Mutation_p.S465I|KANSL1L_ENST00000418791.1_Missense_Mutation_p.S465I|KANSL1L_ENST00000457374.1_Missense_Mutation_p.S465I	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	465																	TAAAGTAGGGCTGCTTGGTGA	0.393000													13	32					0.000151284	0.000155332	1	1	0
ZNF628	89887	broad.mit.edu	37	19	55994845	55994845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:55994845G>A	ENST00000391718.2	+	3	2838	c.2273G>A	c.(2272-2274)cGg>cAg	p.R758Q	ZNF628_ENST00000598519.1_Missense_Mutation_p.R762Q			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	758	Gly-rich.					nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CAGGGCCCGCGGGCAGTGGGG	0.756000													3	6					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27421969	27421969	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:27421969C>T	ENST00000527372.1	-	29	4674	c.4494G>A	c.(4492-4494)ctG>ctA	p.L1498L	MYO18A_ENST00000531253.1_Silent_p.L1498L|MYO18A_ENST00000354329.4_Silent_p.L1498L|MYO18A_ENST00000533112.1_Silent_p.L1498L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1498					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTTGCTGCTTCAGGCTGAAAG	0.632000													8	19					0	0	1	0	0
CTSW	1521	broad.mit.edu	37	11	65650578	65650578	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:65650578G>A	ENST00000528419.1	+	8	788	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	CTSW_ENST00000307886.3_Missense_Mutation_p.V262M			P56202	CATW_HUMAN	cathepsin W	262					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CCCCATCACCGTGACCATCAA	0.612000													67	186					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43258544	43258544	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:43258544G>A	ENST00000404209.4	-	5	1280	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.S273F|PSG8_ENST00000401467.2_Missense_Mutation_p.S302F|PSG8_ENST00000306511.4_Missense_Mutation_p.S395F	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	395	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTTACGAACAGAGCAAGCATA	0.448000													92	219					0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45391455	45391455	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:45391455C>T	ENST00000252483.5	+	9	1436	c.1436C>T	c.(1435-1437)cCg>cTg	p.P479L	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	479					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCCCCCATCCCGGTGCCTCCA	0.597000													26	53					0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19036128	19036128	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:19036128G>A	ENST00000263196.7	-	7	1078	c.831C>T	c.(829-831)aaC>aaT	p.N277N	DGCR2_ENST00000537045.1_Silent_p.N236N|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	277	VWFC.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CATCCACCACGTTGTCCTTGA	0.527000													132	272					0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121687599	121687599	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:121687599C>T	ENST00000324774.5	-	13	2142	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	CAMKK2_ENST00000446440.2_Silent_p.P438P|CAMKK2_ENST00000412367.2_Silent_p.P438P|CAMKK2_ENST00000404169.3_Silent_p.P438P|CAMKK2_ENST00000392474.2_Silent_p.P438P|CAMKK2_ENST00000347034.2_Silent_p.P438P|CAMKK2_ENST00000545538.1_Silent_p.P225P|CAMKK2_ENST00000337174.3_Silent_p.P438P|CAMKK2_ENST00000402834.4_Silent_p.P438P|CAMKK2_ENST00000538733.1_Silent_p.P438P|CAMKK2_ENST00000392473.2_Silent_p.P438P	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	438	Protein kinase.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTTGATTTCCGGCACCACGA	0.602000													124	59					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32954000	32954000	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:32954000G>T	ENST00000321639.5	+	3	980	c.652G>T	c.(652-654)Gtg>Ttg	p.V218L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	218						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCCGGGGAAGTGCTCAGCAT	0.657000													49	91					9.55421e-19	1.148e-18	1	1	0
MTMR11	10903	broad.mit.edu	37	1	149901586	149901586	+	Silent	SNP	G	G	A	rs146993077		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:149901586G>A	ENST00000439741.2	-	16	2120	c.1870C>T	c.(1870-1872)Ctg>Ttg	p.L624L	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Silent_p.L552L|MTMR11_ENST00000406732.3_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	624	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TACCCAGGCAGCAGCAGCCCT	0.597000													60	106					0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47395006	47395006	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:47395006G>A	ENST00000362063.2	-	2	400	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	ZNF652_ENST00000430262.2_Missense_Mutation_p.R28C	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TGACCACGACGGCTATCTTCT	0.468000													14	25					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62297385	62297385	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:62297385C>A	ENST00000318100.4	+	7	1394	c.567C>A	c.(565-567)agC>agA	p.S189R	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S189R|RTEL1_ENST00000370018.3_Missense_Mutation_p.S189R|RTEL1_ENST00000360203.5_Missense_Mutation_p.S189R|RTEL1_ENST00000508582.2_Missense_Mutation_p.S213R			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	189	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGCTGGCCAGCCCCATCCTGG	0.602000													12	38					0.00010058	0.000103618	1	1	0
RGPD8	727851	broad.mit.edu	37	2	113146071	113146071	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:113146071C>T	ENST00000302558.3	-	20	4642	c.4451G>A	c.(4450-4452)aGa>aAa	p.R1484K	RGPD8_ENST00000409750.1_Missense_Mutation_p.R1344K	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TGGTGACTCTCTGGGAGTGCT	0.408000													84	183					0	0	1	0	0
CWC25	54883	broad.mit.edu	37	17	36977261	36977261	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:36977261C>T	ENST00000225428.4	-	2	381	c.84G>A	c.(82-84)caG>caA	p.Q28Q	CWC25_ENST00000536127.1_5'UTR	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	28										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CCTCATGCTTCTGCTCGGCCT	0.537000													46	88					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184595926	184595926	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:184595926G>A	ENST00000334690.6	+	6	823	c.621G>A	c.(619-621)gtG>gtA	p.V207V	TRAPPC11_ENST00000511409.1_3'UTR|TRAPPC11_ENST00000357207.4_Silent_p.V207V	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	207																	TCAGAAGAGTGAAATCTCATA	0.308000													19	38					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135048772	135048772	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:135048772G>A	ENST00000541284.1	-	11	2004	c.1674C>T	c.(1672-1674)gaC>gaT	p.D558D	CNOT4_ENST00000451834.1_Silent_p.D555D|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000423368.2_Intron	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	238					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CCCTTAGCCCGTCCTGCCATT	0.423000													55	63					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26750726	26750726	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:26750726G>A	ENST00000272371.2	-	3	327	c.201C>T	c.(199-201)ttC>ttT	p.F67F	OTOF_ENST00000403946.3_Silent_p.F67F	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	67					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGTAGTTGAAAACCTGAA	0.577000													33	79					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67225048	67225048	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:67225048C>T	ENST00000438189.2	+	5	575	c.231C>T	c.(229-231)ggC>ggT	p.G77G	CABP4_ENST00000325656.5_Silent_p.G182G			P57796	CABP4_HUMAN	calcium binding protein 4	182					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CTGCAGTGGGCGGCCGTGTGG	0.622000													4	9					0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1519990	1519990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:1519990C>T	ENST00000571650.1	-	3	540	c.234G>A	c.(232-234)tgG>tgA	p.W78*	SLC43A2_ENST00000301335.4_Nonsense_Mutation_p.W78*|SLC43A2_ENST00000382147.4_Nonsense_Mutation_p.W78*			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	78					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GGCAGCTGAGCCAGCCGTTCA	0.592000													15	58					0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145151100	145151100	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:145151100C>A	ENST00000318911.4	+	3	473	c.400C>A	c.(400-402)Cac>Aac	p.H134N		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	134	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCTACCGCCACCTGGTGGG	0.627000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	197					3.94839e-29	4.88773e-29	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141116402	141116402	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:141116402C>A	ENST00000389484.3	-	73	12216	c.11245G>T	c.(11245-11247)Gat>Tat	p.D3749Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3749	LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACAGTGATCTTCATCTGAA	0.383000										TSP Lung(27;0.18)			39	90					6.5261e-18	7.78064e-18	1	1	0
KRI1	65095	broad.mit.edu	37	19	10675657	10675657	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:10675657C>T	ENST00000312962.6	-	3	259	c.240G>A	c.(238-240)aaG>aaA	p.K80K	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Silent_p.K76K	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	80										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGTCCTTCTTCTTCAACAAGG	0.488000											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	112					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46500302	46500302	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:46500302G>T	ENST00000361297.2	+	29	4244	c.3961G>T	c.(3961-3963)Ggt>Tgt	p.G1321C	MAST2_ENST00000372009.2_Intron|MAST2_ENST00000372008.1_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1321					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTCCCTCCACGGTCTGGCACC	0.657000													40	95					8.16277e-20	9.86603e-20	1	1	0
INPP5B	3633	broad.mit.edu	37	1	38353958	38353958	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:38353958A>C	ENST00000373023.2	-	10	1189	c.1096T>G	c.(1096-1098)Tgg>Ggg	p.W366G	INPP5B_ENST00000458109.2_Missense_Mutation_p.W49G|INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373027.1_Missense_Mutation_p.W122G|INPP5B_ENST00000373026.1_Missense_Mutation_p.W366G|INPP5B_ENST00000373024.3_Missense_Mutation_p.W286G	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	366					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGCTCAGCCACAGCCGGAGG	0.483000													9	106					0	0	1	0	0
PVALB	5816	broad.mit.edu	37	22	37211254	37211254	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:37211254C>G	ENST00000216200.5	-	3	142	c.87G>C	c.(85-87)aaG>aaC	p.K29N	PVALB_ENST00000404171.1_5'UTR|PVALB_ENST00000417718.2_Missense_Mutation_p.K29N	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	29							calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TTTGGAAGAACTTTTTGTGGT	0.517000													13	59					0	0	1	0	0
MEGF9	1955	broad.mit.edu	37	9	123370118	123370118	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:123370118C>T	ENST00000373930.3	-	5	1369	c.1258G>A	c.(1258-1260)Ggt>Agt	p.G420S	MEGF9_ENST00000426959.1_Missense_Mutation_p.G457S	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	420	Laminin EGF-like 5.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						ATGCACTCACCACTCTCGGGC	0.453000													5	212					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179525601	179525601	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:179525601G>A	ENST00000467460.1	-	14	1867	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	PEX5L_ENST00000485199.1_Missense_Mutation_p.R478C|PEX5L_ENST00000476138.1_Missense_Mutation_p.R470C|PEX5L_ENST00000472994.1_Missense_Mutation_p.R454C|PEX5L_ENST00000468741.1_Missense_Mutation_p.R321C|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.R489C|PEX5L_ENST00000464614.1_Missense_Mutation_p.R405C|PEX5L_ENST00000392649.3_Missense_Mutation_p.R405C|PEX5L_ENST00000263962.8_Missense_Mutation_p.R511C	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	513					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCCCCGAGGCGGTTCCATAGT	0.522000													46	112					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429690	57429690	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:57429690C>A	ENST00000371100.4	+	1	1922	c.1370C>A	c.(1369-1371)gCg>gAg	p.A457E	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.A457E|GNAS_ENST00000371102.4_Missense_Mutation_p.A457E|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.R394R	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GACTCCGGGGCGGCCCCTGAC	0.781000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	2					0.115264	0.11602	1	1	0
ACTN4	81	broad.mit.edu	37	19	39214921	39214921	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:39214921C>T	ENST00000252699.2	+	15	1893	c.1817C>T	c.(1816-1818)tCg>tTg	p.S606L	ACTN4_ENST00000390009.3_Missense_Mutation_p.S387L|ACTN4_ENST00000424234.2_Missense_Mutation_p.S216L	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	606					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCAAGCTGTCGGGCAGCAAC	0.652000													17	35					0	0	1	0	0
ZNF595	152687	broad.mit.edu	37	4	59391	59391	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:59391C>T	ENST00000509152.2	+	2	257	c.72C>T	c.(70-72)gcC>gcT	p.A24A	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.A24A					zinc finger protein 595									p.A24A(2)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGGACCCTGCCCAGCAGAATT	0.428000													30	506					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65499223	65499223	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:65499223C>A	ENST00000261883.4	-	4	487	c.321G>T	c.(319-321)caG>caT	p.Q107H		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	107					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						CATGGACCACCTGGCCAGTGC	0.622000													24	34					1.64293e-13	1.87154e-13	1	1	0
TNFRSF1B	7133	broad.mit.edu	37	1	12251047	12251047	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:12251047C>T	ENST00000376259.3	+	3	301	c.212C>T	c.(211-213)tCg>tTg	p.S71L	TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.S71L|TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	71					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	ACCAAGACCTCGGACACCGTG	0.587000													31	182					0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44417630	44417630	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:44417630G>C	ENST00000269973.5	-	10	3048	c.1958C>G	c.(1957-1959)tCa>tGa	p.S653*	ZNF45_ENST00000589703.1_Nonsense_Mutation_p.S653*|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	653					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						GATAAGACTTGAGCTCCAACT	0.448000													29	58					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36484801	36484801	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:36484801C>G	ENST00000342292.4	-	11	4671	c.4651G>C	c.(4651-4653)Gac>Cac	p.D1551H		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1551						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGGAATTGTCTAGACATGGG	0.537000													58	105					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101606077	101606077	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:101606077C>T	ENST00000284395.5	+	33	5826	c.5426C>T	c.(5425-5427)tCc>tTc	p.S1809F	LRRK1_ENST00000388948.3_Missense_Mutation_p.S1812F|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1812					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GAGGGGGACTCCATCGCGGAC	0.627000													15	48					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25453369	25453369	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:25453369G>A	ENST00000255324.5	+	35	4870	c.4818G>A	c.(4816-4818)caG>caA	p.Q1606Q	RNF17_ENST00000381921.1_Silent_p.Q1564Q|RNF17_ENST00000339524.3_Silent_p.Q616Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1606					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACGATGAACAGCATCCAGTTC	0.398000													15	39					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227313	39227313	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:39227313C>T	ENST00000340369.3	-	2	3852	c.3624G>A	c.(3622-3624)ggG>ggA	p.G1208G	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1208							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCATCGCCTTCCCTGGTGGCC	0.692000													25	19					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112151205	112151205	+	Missense_Mutation	SNP	G	G	A	rs149154604		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:112151205G>A	ENST00000457016.1	+	9	1228	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	APC_ENST00000257430.4_Missense_Mutation_p.R283Q|APC_ENST00000508376.2_Missense_Mutation_p.R283Q			P25054	APC_HUMAN	adenomatous polyposis coli	283	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAACTACACGAATGGACCAT	0.383000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			24	52					0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75512699	75512699	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:75512699C>T	ENST00000332272.4	-	3	1207	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	CHST6_ENST00000390664.2_Missense_Mutation_p.R343H|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	343					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGCACGCGGCGGATCTTGGC	0.652000													32	66					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	27					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110596374	110596374	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:110596374G>A	ENST00000369795.3	+	21	2376	c.2354G>A	c.(2353-2355)cGg>cAg	p.R785Q	STRIP1_ENST00000369796.1_Missense_Mutation_p.R690Q	NM_033088.2	NP_149079.2			striatin interacting protein 1									p.R785Q(1)									CGCTATGACCGGGCCCACAGC	0.587000											OREG0013647	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	46					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110644382	110644382	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:110644382G>C	ENST00000338081.3	-	3	955	c.784C>G	c.(784-786)Ctg>Gtg	p.L262V	DCX_ENST00000356915.2_Missense_Mutation_p.L181V|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.L181V|DCX_ENST00000356220.3_Missense_Mutation_p.L181V|DCX_ENST00000488120.1_Missense_Mutation_p.L181V	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	262	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						ATGGTAACCAGCTTGGGGCGC	0.527000													25	10					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14273691	14273691	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:14273691G>A	ENST00000340736.6	-	6	1234	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	LPHN1_ENST00000361434.3_Missense_Mutation_p.R308C|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	313	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATGCCGAGCGCTTGTCGTAA	0.622000													8	23					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139642946	139642946	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:139642946C>A	ENST00000303045.6	-	50	4101	c.3655G>T	c.(3655-3657)Ggg>Tgg	p.G1219W	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1199W|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1219	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)			ACAGGTGACCCTTGGATTCCT	0.468000										HNSCC(7;0.00092)			47	125					2.74224e-37	3.44323e-37	1	1	0
CWC25	54883	broad.mit.edu	37	17	36977254	36977254	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:36977254C>T	ENST00000225428.4	-	2	388	c.91G>A	c.(91-93)Gag>Aag	p.E31K	CWC25_ENST00000536127.1_5'UTR	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	31										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CGCTCAGCCTCATGCTTCTGC	0.542000													49	95					0	0	1	0	0
KATNA1	11104	broad.mit.edu	37	6	149959596	149959596	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:149959596G>T	ENST00000367411.2	-	2	346	c.88C>A	c.(88-90)Cag>Aag	p.Q30K	KATNA1_ENST00000335643.8_Missense_Mutation_p.Q30K|KATNA1_ENST00000335647.5_Missense_Mutation_p.Q30K	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	30	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGAACTCCCTGATAATAGACC	0.398000													57	123					5.73376e-24	7.027e-24	1	1	0
ZNF292	23036	broad.mit.edu	37	6	87969527	87969527	+	Silent	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:87969527T>C	ENST00000369577.3	+	8	6223	c.6180T>C	c.(6178-6180)atT>atC	p.I2060I	ZNF292_ENST00000339907.4_Silent_p.I2055I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TACAAGTGATTACAGTTACTT	0.358000													4	10					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413860	179413860	+	Silent	SNP	T	T	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:179413860T>G	ENST00000589042.1	-	339	92717	c.92493A>C	c.(92491-92493)acA>acC	p.T30831T	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.T21766T|TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.T21958T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Silent_p.T29190T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.T21891T|TTN_ENST00000342992.6_Silent_p.T28263T|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29190	Fibronectin type-III 124.						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)			TTGATGTGTCTGTTACTTTGA	0.448000													13	34					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98609011	98609011	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:98609011C>T	ENST00000359863.4	+	71	11357	c.11148C>T	c.(11146-11148)gaC>gaT	p.D3716D	TRRAP_ENST00000355540.3_Silent_p.D3687D|TRRAP_ENST00000446306.3_Silent_p.D3705D	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3716	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACATAAACGACGCGACTGGAG	0.507000													26	69					0	0	1	0	0
GSKIP	51527	broad.mit.edu	37	14	96851867	96851867	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:96851867G>A	ENST00000556095.1	+	4	2078	c.266G>A	c.(265-267)gGc>gAc	p.G89D	GSKIP_ENST00000438650.1_Missense_Mutation_p.G89D|GSKIP_ENST00000555181.1_Missense_Mutation_p.G89D|GSKIP_ENST00000554182.1_Missense_Mutation_p.G89D	NM_001271904.1	NP_001258833.1			GSK3B interacting protein																		TAGGTGGTAGGCTATGCTTTT	0.403000													4	50					0	0	1	0	0
ASB6	140459	broad.mit.edu	37	9	132400246	132400246	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:132400246G>A	ENST00000277458.4	-	6	1254	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	ASB6_ENST00000277459.4_3'UTR|ASB6_ENST00000450050.2_Silent_p.F284F	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	363	SOCS box.				intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GCCTCAAGGAGAAGTGGAGGG	0.592000													20	51					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139610998	139610998	+	Silent	SNP	T	T	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:139610998T>G	ENST00000303045.6	-	61	4775	c.4329A>C	c.(4327-4329)ccA>ccC	p.P1443P	COL22A1_ENST00000435777.1_Silent_p.P1423P|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1443	Collagen-like 14.|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)			CTGGAGGCCCTGGGGGTCCAA	0.632000										HNSCC(7;0.00092)			29	61					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166908346	166908346	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:166908346T>G	ENST00000423058.2	-	6	864	c.847A>C	c.(847-849)Acc>Ccc	p.T283P	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.T283P|SCN1A_ENST00000303395.4_Missense_Mutation_p.T283P|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.T283P	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	283						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GAAGCATTGGTGGGAGGCCAT	0.393000													10	28					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32137238	32137238	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:32137238G>A	ENST00000373672.3	-	48	3644	c.3128C>T	c.(3127-3129)tCc>tTc	p.S1043F	COL16A1_ENST00000271069.6_Missense_Mutation_p.S1043F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1043	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGGACCCGGGGAGCCCCTCAT	0.607000													15	29					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60545113	60545113	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:60545113G>T	ENST00000400324.4	-	16	2052	c.1832C>A	c.(1831-1833)cCt>cAt	p.P611H	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P611H|DIAPH3_ENST00000400319.1_Missense_Mutation_p.P541H|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P565H|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P600H|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P611H	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	611	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGGTGGTGGAGGCACAGGACC	0.557000													20	54					1.50039e-11	1.67498e-11	1	1	0
CLIP3	25999	broad.mit.edu	37	19	36515441	36515441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:36515441G>A	ENST00000360535.4	-	7	1002	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.R259W	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	259					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGAAGCGTCCGCAGCTCCTTG	0.602000													28	60					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54891629	54891629	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:54891629G>A	ENST00000356805.4	+	33	6741	c.6460G>A	c.(6460-6462)Gct>Act	p.A2154T		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2154					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGTCAACGGCGCTACAGAACA	0.592000													5	285					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62964362	62964362	+	RNA	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:62964362C>T	ENST00000430983.1	-	0	1730					NR_026903.1																						AACAGTCAGGCATTTTATTAT	0.398000													22	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179441117	179441117	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:179441117G>A	ENST00000589042.1	-	326	69966	c.69742C>T	c.(69742-69744)Cat>Tat	p.H23248Y	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H14183Y|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H14375Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H21607Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H14308Y|TTN_ENST00000342992.6_Missense_Mutation_p.H20680Y|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21607	Fibronectin type-III 68.						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)			TCAGTGACATGCGGATTTGAA	0.403000													17	22					0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6925525	6925525	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:6925525A>C	ENST00000011653.4	+	6	1169	c.911A>C	c.(910-912)aAa>aCa	p.K304T		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	304	Ig-like C2-type 2.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CTTGAAGCGAAAACAGGAAAG	0.622000													7	22					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003855	122003855	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:122003855C>T	ENST00000498619.1	+	7	3522	c.3084C>T	c.(3082-3084)tgC>tgT	p.C1028C	CASR_ENST00000296154.5_Silent_p.C1018C|CASR_ENST00000490131.1_Silent_p.C1018C	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1018					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGCTGCAGTGCGGGGAAACGG	0.602000													26	42					0	0	1	0	0
ACOT8	10005	broad.mit.edu	37	20	44472344	44472344	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:44472344C>G	ENST00000217455.4	-	5	753	c.663G>C	c.(661-663)aaG>aaC	p.K221N		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	221					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				AGCAGTGCATCTTCATGTCGC	0.612000													29	57					0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25824781	25824781	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:25824781A>G	ENST00000374343.4	+	11	1998	c.1819A>G	c.(1819-1821)Atc>Gtc	p.I607V	TMEM57_ENST00000399763.3_Missense_Mutation_p.I249V|TMEM57_ENST00000399766.3_Missense_Mutation_p.I380V	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	607						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGATCAGGAAATCAAGGACCT	0.522000													18	49					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307541	54307541	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:54307541A>C	ENST00000545554.1	+	1	2441	c.2441A>C	c.(2440-2442)aAa>aCa	p.K814T	UNC13C_ENST00000537900.1_Missense_Mutation_p.K814T|UNC13C_ENST00000260323.11_Missense_Mutation_p.K814T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	814					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)		GTATGGAACAAAAGCACACAG	0.423000													14	40					0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79350279	79350279	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:79350279C>A	ENST00000233735.1	+	6	542	c.439C>A	c.(439-441)Cag>Aag	p.Q147K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	147	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						TATAGGATTCCAGAAATGGAA	0.428000													19	31					1.40151e-16	1.64852e-16	1	1	0
RUNX1T1	862	broad.mit.edu	37	8	92998496	92998496	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:92998496T>A	ENST00000523629.1	-	9	1589	c.1135A>T	c.(1135-1137)Agg>Tgg	p.R379W	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R342W|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R390W|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R352W|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R342W|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R379W|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R342W|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R352W	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	379	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGACACCGCCTTAGTACGGTG	0.473000													27	69					0	0	1	0	0
B4GALT7	11285	broad.mit.edu	37	5	177031391	177031391	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:177031391G>A	ENST00000029410.5	+	2	373	c.262G>A	c.(262-264)Gca>Aca	p.A88T		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	88					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAAGAAGACGCATCCTGGGG	0.711000													12	25					0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	556881	556881	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:556881G>A	ENST00000329451.3	-	8	992	c.930C>T	c.(928-930)tcC>tcT	p.S310S		NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	310										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-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;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGCTTGCTCGGAGGAAGCGC	0.701000													7	13					0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132630581	132630581	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:132630581C>A	ENST00000315480.4	+	11	1146	c.988C>A	c.(988-990)Cgc>Agc	p.R330S	USP20_ENST00000372429.3_Missense_Mutation_p.R330S|USP20_ENST00000358355.1_Missense_Mutation_p.R330S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	330					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GATGAAGGACCGCAAGTTCTC	0.667000													25	92					7.33532e-06	7.73864e-06	1	1	0
CRTAM	56253	broad.mit.edu	37	11	122726431	122726431	+	Silent	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:122726431T>C	ENST00000227348.4	+	5	566	c.519T>C	c.(517-519)gaT>gaC	p.D173D		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	173	Ig-like C2-type.		D -> G (in dbSNP:rs35136295).		cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TTGAAACTGATGGGAAGAAAT	0.423000													24	60					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	239975189	239975189	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:239975189G>A	ENST00000345617.3	-	26	3973	c.3182C>T	c.(3181-3183)tCg>tTg	p.S1061L	HDAC4_ENST00000543185.1_Missense_Mutation_p.S645L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1061	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CACGGACAGCGAGGCCATGGC	0.657000													28	65					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70271437	70271437	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:70271437G>A	ENST00000301843.8	+	13	1163		c.e13-1		CTTN_ENST00000538675.1_Splice_Site|CTTN_ENST00000376561.3_Splice_Site|CTTN_ENST00000346329.3_Splice_Site	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin							cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGTCTCTGCAGAATGCGTCAA	0.552000													7	14					0	0	1	0	0
PSMC5	5705	broad.mit.edu	37	17	61908487	61908487	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:61908487G>A	ENST00000310144.6	+	8	1079	c.771G>A	c.(769-771)tcG>tcA	p.S257S	PSMC5_ENST00000580864.1_Silent_p.S249S|PSMC5_ENST00000581882.1_Silent_p.S249S|PSMC5_ENST00000375812.4_Silent_p.S249S	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	257					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TCGGCTCCTCGCGGCTGGAGG	0.572000													38	96					0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20244461	20244461	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:20244461A>C	ENST00000361479.5	+	12	2483	c.2415A>C	c.(2413-2415)caA>caC	p.Q805H	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.Q805H	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	805					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GTAGTGTACAAGCTGTAGTTC	0.388000													32	64					0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1118413	1118413	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:1118413G>A	ENST00000379290.1	+	11	1247	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	TTLL10_ENST00000379289.1_Silent_p.A358A|TTLL10_ENST00000379288.3_Silent_p.A285A			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	358	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)		GGCCTCAGGCGCGGGTGGTGC	0.726000													7	16					0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51011396	51011396	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:51011396G>T	ENST00000360719.2	-	11	1397	c.1260C>A	c.(1258-1260)gcC>gcA	p.A420A	CPT1B_ENST00000405237.3_Silent_p.A420A|CPT1B_ENST00000457250.1_Silent_p.A386A|CPT1B_ENST00000395650.2_Silent_p.A420A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.A217A|CPT1B_ENST00000312108.7_Silent_p.A420A|CPT1B_ENST00000440709.1_Intron	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	420					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCTCATCCAGGGCCACGAAGA	0.587000													59	130					2.22609e-26	2.75013e-26	1	1	0
CLEC17A	388512	broad.mit.edu	37	19	14705582	14705582	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:14705582G>A	ENST00000547437.1	+	7	450	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	CLEC17A_ENST00000417570.1_Missense_Mutation_p.A125T|CLEC17A_ENST00000397439.2_Missense_Mutation_p.A108T	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	125						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										CCTGGACCTCGCCGCTGTCAC	0.527000													9	30					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54912400	54912400	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:54912400C>A	ENST00000284061.3	+	2	424	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	DGKE_ENST00000572810.1_Missense_Mutation_p.L82M|C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	82					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GCAGCACATTCTGCAGGGCGC	0.642000													26	49					3.28513e-13	3.72841e-13	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20649509	20649509	+	RNA	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:20649509G>T	ENST00000428453.1	-	0	2689																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CGAATCCTCTGCTGAGGGCTG	0.577000													43	144					1.0442e-30	1.30313e-30	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32689676	32689676	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:32689676G>A	ENST00000421745.2	+	25	5175	c.5041G>A	c.(5041-5043)Gtg>Atg	p.V1681M		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1681					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTCCAACCCAGTGGCTGCCCC	0.493000													8	15					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133657316	133657316	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:133657316C>A	ENST00000310926.4	-	12	1920	c.1647G>T	c.(1645-1647)aaG>aaT	p.K549N	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.K473N	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	549					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TGGCAAATGACTTTTCCTCCT	0.552000													54	95					1.54886e-18	1.85742e-18	1	1	0
OR4A5	81318	broad.mit.edu	37	11	51411544	51411544	+	Silent	SNP	A	A	G	rs5011061		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:51411544A>G	ENST00000319760.6	-	1	904	c.852T>C	c.(850-852)taT>taC	p.Y284Y		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TTCTCAACGTATATATTAAAG	0.323000													17	22					0	0	1	0	0
SHQ1	55164	broad.mit.edu	37	3	72890301	72890301	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:72890301C>A	ENST00000325599.8	-	4	520	c.381G>T	c.(379-381)tgG>tgT	p.W127C	SHQ1_ENST00000463369.1_Missense_Mutation_p.W99C	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	127					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GCTCAATTTCCCAATCAAACT	0.388000													27	32					1.26454e-06	1.34563e-06	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19666658	19666658	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:19666658G>A	ENST00000284885.3	-	21	2448	c.2415C>T	c.(2413-2415)ggC>ggT	p.G805G		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	805	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCAGTCGGCCGCCATAATACA	0.562000													49	99					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798422	185798422	+	Silent	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:185798422C>A	ENST00000302277.6	+	3	942	c.348C>A	c.(346-348)cgC>cgA	p.R116R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	116						intracellular	zinc ion binding	p.R116R(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CACTCCAACGCCTGCACAAGC	0.403000													11	27					0.00829132	0.00844257	1	1	0
PARM1	25849	broad.mit.edu	37	4	75938152	75938152	+	Silent	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:75938152T>C	ENST00000307428.7	+	2	773	c.561T>C	c.(559-561)acT>acC	p.T187T	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	187					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCAACCCACTGGAGCTCCAA	0.567000													106	171					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48380126	48380126	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:48380126C>T	ENST00000380518.3	-	23	1684	c.1520G>A	c.(1519-1521)gGa>gAa	p.G507E	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G438E	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	507	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AACTCTTTCTCCAGGGGGACC	0.632000													8	1					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854694	53854694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:53854694C>T	ENST00000458035.1	+	4	883	c.766C>T	c.(766-768)Cga>Tga	p.R256*	ZNF845_ENST00000595091.1_Nonsense_Mutation_p.R256*	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATCAAAAGCGATATCTTGC	0.388000													15	49					0	0	1	0	0
DMRTA1	63951	broad.mit.edu	37	9	22447589	22447589	+	Silent	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:22447589C>G	ENST00000325870.1	+	1	750	c.525C>G	c.(523-525)ggC>ggG	p.G175G		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	175					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CATCCGGGGGCGGCGGCAGAG	0.746000													5	8					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185320135	185320135	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:185320135C>T	ENST00000393593.3	-	7	835	c.628G>A	c.(628-630)Gac>Aac	p.D210N		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	210					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GGCTGCTCGTCGCTCTCAGTG	0.567000													36	69					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155783569	155783569	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:155783569G>A	ENST00000437809.1	-	10	1430	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	GON4L_ENST00000271883.5_Silent_p.I436I|GON4L_ENST00000361040.5_Silent_p.I436I|GON4L_ENST00000368331.1_Silent_p.I436I|GON4L_ENST00000471341.1_5'UTR			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	436					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.I436I(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGATGTGCCTGATGGCTGGTG	0.473000													16	32					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16824587	16824587	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:16824587T>C	ENST00000355661.3	-	15	2099	c.2089A>G	c.(2089-2091)Atc>Gtc	p.I697V	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.I697V|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.I697V			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	697					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCACAGAAGATGCTCAGTTTG	0.463000													36	60					0	0	1	0	0
IGLV2-33	28811	broad.mit.edu	37	22	22930912	22930912	+	RNA	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:22930912C>T	ENST00000390302.2	+	0	165																											CCTGGACAGTCGGTCACCATC	0.547000													6	268					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780452	88780452	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:88780452G>T	ENST00000418177.2	-	2	956	c.589C>A	c.(589-591)Cag>Aag	p.Q197K	GRM5_ENST00000393294.3_Missense_Mutation_p.Q197K|GRM5_ENST00000393297.1_Missense_Mutation_p.Q197K|GRM5_ENST00000305432.5_Missense_Mutation_p.Q197K|GRM5_ENST00000305447.4_Missense_Mutation_p.Q197K|GRM5_ENST00000455756.2_Missense_Mutation_p.Q197K			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	197					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTTGCCTGCTGAGCATCTGAA	0.458000													20	56					1.2644e-06	1.34563e-06	1	1	0
SLC29A4	222962	broad.mit.edu	37	7	5330374	5330374	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:5330374C>T	ENST00000396872.2	+	3	342	c.181C>T	c.(181-183)Cca>Tca	p.P61S	SLC29A4_ENST00000297195.4_Missense_Mutation_p.P61S|SLC29A4_ENST00000406453.3_Missense_Mutation_p.P61S	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	61					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		ATTGGACGAGCCAGTGCCCGA	0.612000													31	47					0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84213311	84213311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:84213311C>T	ENST00000567759.1	-	14	2028	c.1846G>A	c.(1846-1848)Gac>Aac	p.D616N	TAF1C_ENST00000570117.1_Missense_Mutation_p.D284N|TAF1C_ENST00000541676.1_Missense_Mutation_p.D523N|TAF1C_ENST00000378541.4_Missense_Mutation_p.D616N|TAF1C_ENST00000341690.6_Missense_Mutation_p.D522N|TAF1C_ENST00000566732.1_Missense_Mutation_p.D590N	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	616					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGTTGGGTGTCGCCAGGAGGC	0.667000													8	24					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129019947	129019947	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:129019947C>T	ENST00000274487.4	+	18	2926	c.2781C>T	c.(2779-2781)tgC>tgT	p.C927C	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	927	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGGAAGATTGCGATGCCACTT	0.403000													17	30					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169581488	169581488	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:169581488C>T	ENST00000263686.6	-	6	965	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	SELP_ENST00000367786.2_Missense_Mutation_p.G310R|SELP_ENST00000367788.2_Intron|SELP_ENST00000367793.2_Intron|SELP_ENST00000367792.2_Missense_Mutation_p.G310R|SELP_ENST00000367791.2_Missense_Mutation_p.G310R|SELP_ENST00000367794.2_Missense_Mutation_p.G310R|SELP_ENST00000458599.2_Missense_Mutation_p.G310R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	310	Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTCCATACCCCCGAGGCTGTG	0.488000													39	71					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504910	18504910	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:18504910C>T	ENST00000380548.4	+	2	486	c.147C>T	c.(145-147)tgC>tgT	p.C49C	ADAMTSL1_ENST00000276935.6_Silent_p.C49C|ADAMTSL1_ENST00000327883.7_Silent_p.C49C|ADAMTSL1_ENST00000380570.4_Silent_p.C49C|ADAMTSL1_ENST00000380566.4_Silent_p.C49C|ADAMTSL1_ENST00000431052.2_Silent_p.C49C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	49	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.C49C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CACGCACCTGCGGGGGTGGGG	0.617000													16	46					0	0	1	0	0
CCT6A	908	broad.mit.edu	37	7	56128584	56128584	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:56128584C>T	ENST00000275603.4	+	11	1517	c.1298C>T	c.(1297-1299)gCa>gTa	p.A433V	CCT6A_ENST00000540286.1_Missense_Mutation_p.A402V|CCT6A_ENST00000462133.1_3'UTR|CCT6A_ENST00000335503.3_Missense_Mutation_p.A388V	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	433					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAGGGCAGGGCACAGCTTGGA	0.493000													23	43					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22294383	22294383	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:22294383C>T	ENST00000324559.8	+	19	2400	c.2083C>T	c.(2083-2085)Ctt>Ttt	p.L695F	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	695						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTGGCTCCTCTTCTTGCTCT	0.378000													15	47					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88241840	88241840	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:88241840A>G	ENST00000418177.2	-	10	3926	c.3559T>C	c.(3559-3561)Tcg>Ccg	p.S1187P	GRM5_ENST00000393297.1_Missense_Mutation_p.S917P|GRM5_ENST00000305432.5_Missense_Mutation_p.S1155P|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000305447.4_Missense_Mutation_p.S1187P|GRM5_ENST00000455756.2_Missense_Mutation_p.S1155P			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1187					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CAGAGGGCCGACTCGGACACT	0.587000													17	32					0	0	1	0	0
MATN1	4146	broad.mit.edu	37	1	31191679	31191679	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:31191679C>T	ENST00000373765.4	-	3	602	c.567G>A	c.(565-567)cgG>cgA	p.R189R	MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000454613.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	189	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGATCTGCCGCAGCGTGG	0.672000													14	24					0	0	1	0	0
ALG5	29880	broad.mit.edu	37	13	37539850	37539850	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:37539850C>A	ENST00000239891.3	-	8	701	c.635G>T	c.(634-636)cGt>cTt	p.R212L	ALG5_ENST00000413537.2_3'UTR|ALG5_ENST00000443765.1_Missense_Mutation_p.R182L	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	212					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	p.R212H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GAGAAGAGTACGGAAGTAAGA	0.393000													17	47					5.03518e-11	5.60073e-11	1	1	0
JMJD1C	221037	broad.mit.edu	37	10	64977085	64977085	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:64977085T>C	ENST00000399262.2	-	5	778	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	JMJD1C_ENST00000399251.1_5'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.Y5C|JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000402544.1_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	187					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATTTAAGGAATAAGGACCTTA	0.363000													12	30					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7619527	7619527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:7619527C>T	ENST00000221249.6	+	24	2869	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	PNPLA6_ENST00000545201.2_Missense_Mutation_p.T786M|PNPLA6_ENST00000450331.3_Missense_Mutation_p.T813M|PNPLA6_ENST00000414982.3_Missense_Mutation_p.T861M|PNPLA6_ENST00000600737.1_Missense_Mutation_p.T851M	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	852					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCTCGCTGACGCCCTGGACC	0.672000													32	88					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85645602	85645602	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:85645602T>C	ENST00000322366.6	-	45	7774	c.7367A>G	c.(7366-7368)gAa>gGa	p.E2456G	WDFY3_ENST00000295888.4_Missense_Mutation_p.E2473G			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2473						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATAGTGTCTTCCCCATGCTC	0.428000													55	122					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154197682	154197682	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:154197682G>A	ENST00000428931.1	+	2	250	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	UBAP2L_ENST00000271877.7_Missense_Mutation_p.R28Q|UBAP2L_ENST00000361546.2_Missense_Mutation_p.R28Q|UBAP2L_ENST00000343815.6_Missense_Mutation_p.R28Q	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	28					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACAAGCAGCGGCCACAGGTA	0.463000													18	43					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128776216	128776216	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:128776216G>C	ENST00000280333.6	+	3	244	c.135G>C	c.(133-135)tgG>tgC	p.W45C		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	45	SH3.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GTTTAGGGTGGTACCGAGGTT	0.388000													45	96					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27128606	27128606	+	Silent	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:27128606G>C	ENST00000335625.5	+	6	1287	c.399G>C	c.(397-399)acG>acC	p.T133T	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Silent_p.T133T|GABRA5_ENST00000400081.3_Silent_p.T133T|GABRA5_ENST00000557449.1_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	133					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCCCAGACACGTTCTTCCACA	0.577000													29	61					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29797377	29797377	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:29797377T>C	ENST00000428701.1	+	5	980	c.802T>C	c.(802-804)Tgg>Cgg	p.W268R	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Missense_Mutation_p.W268R|HLA-G_ENST00000376818.3_Missense_Mutation_p.W176R|HLA-G_ENST00000376828.2_Missense_Mutation_p.W273R	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	268	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CTTCCAGAAGTGGGCAGCTGT	0.617000													56	104					0	0	1	0	0
MPLKIP	136647	broad.mit.edu	37	7	40174042	40174042	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:40174042C>G	ENST00000306984.5	-	1	216	c.125G>C	c.(124-126)cGa>cCa	p.R42P		NM_138701.3	NP_619646.1	Q8TAP9	TTDN1_HUMAN	M-phase specific PLK1 interacting protein	42					cell division|mitosis	microtubule organizing center|nucleus											GTACCCGTCTCGAGGGGAGGG	0.731000													3	6					0	0	1	0	0
GLOD4	51031	broad.mit.edu	37	17	679028	679028	+	Silent	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:679028A>G	ENST00000301329.6	-	4	478	c.393T>C	c.(391-393)agT>agC	p.S131S	GLOD4_ENST00000301328.5_Silent_p.S146S|GLOD4_ENST00000536578.1_Silent_p.S122S	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	146						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACTGAGGCAGACTGCGATTCT	0.483000													13	64					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117618156	117618156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:117618156C>T	ENST00000369466.3	+	5	994	c.950C>T	c.(949-951)cCg>cTg	p.P317L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	317					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CAAGAGCGGCCGGAGACCCAC	0.612000													14	27					0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85666413	85666413	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:85666413G>A	ENST00000310298.4	+	20	2326	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	PDE8A_ENST00000557957.1_Missense_Mutation_p.E620K|PDE8A_ENST00000339708.5_Missense_Mutation_p.E646K|PDE8A_ENST00000394553.1_Missense_Mutation_p.E692K			O60658	PDE8A_HUMAN	phosphodiesterase 8A	692	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GGCAACACTAGAAGAAAATGG	0.433000													23	57					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81688766	81688766	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:81688766C>T	ENST00000550584.2	-	23	3068	c.2773G>A	c.(2773-2775)Gtg>Atg	p.V925M	PPFIA2_ENST00000443686.3_Missense_Mutation_p.V826M|PPFIA2_ENST00000549325.1_Missense_Mutation_p.V910M|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.V851M|PPFIA2_ENST00000548586.1_Missense_Mutation_p.V925M|PPFIA2_ENST00000541017.1_Missense_Mutation_p.V142M|PPFIA2_ENST00000333447.7_Missense_Mutation_p.V910M|PPFIA2_ENST00000552948.1_Missense_Mutation_p.V925M|PPFIA2_ENST00000541570.2_Missense_Mutation_p.V492M|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000550359.2_Missense_Mutation_p.V772M|PPFIA2_ENST00000549396.1_Missense_Mutation_p.V925M	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	851										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						CCACTCTTCACGTTGGCTCGG	0.413000													20	13					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67052865	67052865	+	Missense_Mutation	SNP	G	G	A	rs61763970		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:67052865G>A	ENST00000308595.5	+	21	2304	c.2014G>A	c.(2014-2016)Gtg>Atg	p.V672M	ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	672					activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCGCTCGCCCGTGGTGGAGCT	0.622000													6	30					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5688930	5688930	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:5688930G>A	ENST00000396847.3	-	5	991	c.756C>T	c.(754-756)ggC>ggT	p.G252G	TRIM5_ENST00000396855.3_Silent_p.G252G|TRIM5_ENST00000380034.3_Silent_p.G252G|TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000380027.1_Silent_p.G252G|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Intron			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	252					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTTTTATGACGCCATCCACAC	0.398000													16	47					0	0	1	0	0
LIN7C	55327	broad.mit.edu	37	11	27523058	27523058	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:27523058G>A	ENST00000278193.2	-	3	232	c.212C>T	c.(211-213)gCg>gTg	p.A71V	LIN7C_ENST00000524596.1_Intron	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	71					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction		p.A71V(1)		endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						AGTAGCGTTCGCTCTCACTTC	0.313000													19	47					0	0	1	0	0
AP4M1	9179	broad.mit.edu	37	7	99704297	99704297	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:99704297C>A	ENST00000429084.1	+	15	1333	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H	AP4M1_ENST00000422582.1_Missense_Mutation_p.P257H|AP4M1_ENST00000421755.1_Missense_Mutation_p.P385H|AP4M1_ENST00000359593.4_Missense_Mutation_p.P385H			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	385	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCCCAGGGCCCCCAGGACCT	0.687000													26	88					4.22769e-11	4.71108e-11	1	1	0
ZNRF3	84133	broad.mit.edu	37	22	29442737	29442737	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:29442737G>C	ENST00000544604.2	+	6	953	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	ZNRF3_ENST00000332811.4_Missense_Mutation_p.E160Q|ZNRF3_ENST00000406323.3_Missense_Mutation_p.E160Q|ZNRF3_ENST00000402174.1_Missense_Mutation_p.E160Q	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	260						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCAGGCTCTAGAGAAGATGGA	0.577000													66	131					0	0	1	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356920	104356920	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:104356920G>A	ENST00000374806.1	-	1	363	c.293C>T	c.(292-294)gCg>gTg	p.A98V	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	95	EF-hand 3.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	AATGCTGAACGCAAACCTCAA	0.532000													4	122					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559652	140559652	+	Silent	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140559652A>G	ENST00000239444.2	+	1	2282	c.2037A>G	c.(2035-2037)ccA>ccG	p.P679P		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		679					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)			AGGCTGCCCCAGCCCAGGGCC	0.677000													7	89					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27422004	27422004	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:27422004C>T	ENST00000527372.1	-	29	4639	c.4459G>A	c.(4459-4461)Gag>Aag	p.E1487K	MYO18A_ENST00000531253.1_Missense_Mutation_p.E1487K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1487K|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1487K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1487					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ATGTCCTTCTCCCGCTGCAGC	0.637000													4	10					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119045286	119045286	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:119045286G>A	ENST00000409109.1	+	6	1561	c.974G>A	c.(973-975)cGc>cAc	p.R325H	NLRX1_ENST00000525863.1_Missense_Mutation_p.R325H|NLRX1_ENST00000409265.4_Missense_Mutation_p.R325H|NLRX1_ENST00000292199.2_Missense_Mutation_p.R325H|NLRX1_ENST00000409991.1_Missense_Mutation_p.R325H			Q86UT6	NLRX1_HUMAN	NLR family member X1	325	NACHT.|Required for interaction with MAVS.			R -> C (in Ref. 4; BAG53014).	innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TTCCAGCTCCGCCTCAACCAG	0.602000													55	104					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104427657	104427657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:104427657G>A	ENST00000297579.5	+	1	716	c.439G>A	c.(439-441)Gcc>Acc	p.A147T	DCAF13_ENST00000519682.1_5'UTR|DCAF13_ENST00000521971.1_5'UTR|DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000521716.1_5'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTGGAGTCCGGCCGGAAGAGC	0.567000													12	34					0	0	1	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971008	31971008	+	Silent	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:31971008A>G	ENST00000334897.3	-	1	211	c.186T>C	c.(184-186)taT>taC	p.Y62Y		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	62						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						GGTGTCCTCAATAGTAGTAGC	0.552000													19	38					0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25621434	25621434	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:25621434C>T	ENST00000262394.2	+	1	329	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	WSB1_ENST00000581185.1_Missense_Mutation_p.P5S|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000579733.1_Missense_Mutation_p.P5S|WSB1_ENST00000583193.1_Missense_Mutation_p.P5S|WSB1_ENST00000348811.2_Missense_Mutation_p.P5S|WSB1_ENST00000427287.2_Missense_Mutation_p.P5S	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	5					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GGCCAGCTTTCCCCCGAGGGT	0.627000													41	107					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39554995	39554995	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:39554995C>T	ENST00000537403.1	-	3	1395	c.193G>A	c.(193-195)Gca>Aca	p.A65T	SEC23A_ENST00000307712.6_Missense_Mutation_p.A267T|SEC23A_ENST00000536508.1_Missense_Mutation_p.A141T|SEC23A_ENST00000545328.2_Missense_Mutation_p.A238T			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	267					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	p.A267T(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		ATGGAAAGTGCCACCCCAGAG	0.488000													47	48					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562134	11562134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:11562134C>T	ENST00000294484.6	+	2	1223	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A362V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	362					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGGACCTGGCGGACATCCGG	0.627000													15	46					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	167760330	167760330	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:167760330C>G	ENST00000409195.1	+	2	427	c.338C>G	c.(337-339)gCc>gGc	p.A113G	XIRP2_ENST00000295237.9_Missense_Mutation_p.A113G|XIRP2_ENST00000409043.1_Missense_Mutation_p.A113G|XIRP2_ENST00000409756.2_Missense_Mutation_p.A113G|XIRP2_ENST00000420519.1_Missense_Mutation_p.A113G|XIRP2_ENST00000409728.1_Missense_Mutation_p.A113G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTTCCATTGCCCTTGATGAG	0.498000													22	55					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40629508	40629508	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:40629508T>A	ENST00000298910.7	+	4	486	c.428T>A	c.(427-429)cTa>cAa	p.L143Q	LRRK2_ENST00000343742.2_Missense_Mutation_p.L143Q	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	143					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GATCTCCTCCTAACTTCAGGT	0.294000													11	40					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38889169	38889169	+	Silent	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:38889169C>A	ENST00000359357.3	+	69	10152	c.9898C>A	c.(9898-9900)Cgg>Agg	p.R3300R	DNAH8_ENST00000449981.2_Silent_p.R3517R|DNAH8_ENST00000441566.1_Silent_p.R3264R					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAGGAAGGCCGGTTAGCAGT	0.458000													10	18					7.48243e-07	7.98993e-07	1	1	0
VWA3B	200403	broad.mit.edu	37	2	98736107	98736107	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:98736107C>T	ENST00000477737.1	+	4	627	c.423C>T	c.(421-423)tgC>tgT	p.C141C	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Silent_p.C141C	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	141										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						TGGAACAGTGCGTCACCATAG	0.517000													76	171					0	0	1	0	0
APH1A	51107	broad.mit.edu	37	1	150241169	150241169	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:150241169G>A	ENST00000360244.4	-	1	534	c.42C>T	c.(40-42)ttC>ttT	p.F14F	APH1A_ENST00000414276.2_Silent_p.F14F|C1orf54_ENST00000369102.1_5'UTR|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000369109.3_Silent_p.F14F	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	14					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	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)			AGGCCGGGCCGAACGCGACGA	0.662000													6	20					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181353	140181353	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140181353T>C	ENST00000522353.2	+	1	571	c.571T>C	c.(571-573)Tcc>Ccc	p.S191P	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S191P|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAATTAAATCCCTTGGACT	0.363000													25	70					0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100183210	100183210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:100183210G>T	ENST00000328526.5	-	1	688	c.123C>A	c.(121-123)aaC>aaA	p.N41K	XKRX_ENST00000372956.2_Missense_Mutation_p.N28K|XKRX_ENST00000468904.1_Missense_Mutation_p.N28K	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	28						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TAAATCGGGGGTTGGCTCCAC	0.443000													4	121					0.150653	0.150899	1	1	0
PLCB3	5331	broad.mit.edu	37	11	64027601	64027601	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:64027601C>T	ENST00000540288.1	+	14	1729	c.1626C>T	c.(1624-1626)ggC>ggT	p.G542G	PLCB3_ENST00000325234.5_Silent_p.G475G|PLCB3_ENST00000279230.6_Silent_p.G542G	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	542					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GTGACGAGGGCCTGAACCGAG	0.592000													8	18					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196681514	196681514	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:196681514C>T	ENST00000312428.6	-	51	9699	c.9599G>A	c.(9598-9600)cGc>cAc	p.R3200H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3200					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R3200L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAGCCCATGCGGGTGGTGTC	0.438000													4	84					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:7578176C>A	ENST00000420246.2	-	6	805		c.e6+1		TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		GCAAACCAGACCTCAGGCGGC	0.527000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	15					2.79863e-10	3.09058e-10	1	1	0
GZF1	64412	broad.mit.edu	37	20	23345441	23345441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:23345441C>T	ENST00000338121.5	+	2	498	c.421C>T	c.(421-423)Caa>Taa	p.Q141*	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Nonsense_Mutation_p.Q141*			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	141					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TTTGGAGTTGCAAAATTTCTC	0.483000													5	97					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801741	148801741	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:148801741G>A	ENST00000378061.2	-	4	1354	c.1222C>T	c.(1222-1224)Cac>Tac	p.H408Y		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	408					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTCCCGTGTGAACTCTGATG	0.532000													48	68					0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48081042	48081042	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:48081042C>A	ENST00000348904.3	+	3	379	c.167C>A	c.(166-168)cCt>cAt	p.P56H	C7orf57_ENST00000430738.1_Missense_Mutation_p.P101H|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000539619.1_Missense_Mutation_p.P56H|C7orf57_ENST00000420324.1_Missense_Mutation_p.P101H	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	56										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GAGAACCTGCCTGGGACTCGG	0.577000													20	25					8.10497e-08	8.74596e-08	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208391083	208391083	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:208391083A>G	ENST00000367033.3	-	2	942	c.185T>C	c.(184-186)gTc>gCc	p.V62A		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	62	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCCCACATAGACGGCCCCCGT	0.582000													45	95					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45024569	45024569	+	RNA	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:45024569G>T	ENST00000454753.1	-	0	1247							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGACCTCACAGGCATAGGGCC	0.642000													23	28					2.52088e-20	3.05893e-20	1	1	0
MRPL24	79590	broad.mit.edu	37	1	156708372	156708372	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:156708372C>T	ENST00000361531.2	-	2	261	c.125G>A	c.(124-126)cGc>cAc	p.R42H	MRPL24_ENST00000368211.4_Missense_Mutation_p.R42H			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	42	Poly-Arg.				translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AACCACTGGGCGCCGCCTGAT	0.582000													31	74					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17964479	17964479	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:17964479C>T	ENST00000361221.3	+	19	2183	c.2024C>T	c.(2023-2025)aCg>aTg	p.T675M	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.T636M|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.T636M|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.T378M|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.T670M|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.T433M|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.T448M	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	675					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTCATCAGCACGCTGCACGGC	0.622000													3	10					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139281659	139281659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:139281659G>A	ENST00000406875.3	-	12	2615	c.2521C>T	c.(2521-2523)Cgc>Tgc	p.R841C	HIPK2_ENST00000342645.6_Intron|HIPK2_ENST00000428878.2_Missense_Mutation_p.R814C	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	841	Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ATGGCACAGCGGGGAGGTGTG	0.627000													26	35					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84745264	84745264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:84745264C>T	ENST00000372142.2	+	11	1677	c.1403C>T	c.(1402-1404)aCa>aTa	p.T468I	NRG3_ENST00000404576.2_Missense_Mutation_p.T469I|NRG3_ENST00000556918.1_Missense_Mutation_p.T495I|NRG3_ENST00000404547.1_Missense_Mutation_p.T689I|NRG3_ENST00000372141.2_Missense_Mutation_p.T665I|NRG3_ENST00000537893.1_Missense_Mutation_p.T315I|NRG3_ENST00000545131.1_Missense_Mutation_p.T315I	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	689					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.T468K(1)|p.T665K(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGCGAAAACACAGCCTTTCTC	0.488000													19	51					0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4624492	4624492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:4624492G>A	ENST00000300747.5	-	3	794	c.505C>T	c.(505-507)Cga>Tga	p.R169*		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	169					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTGGCAGTTCGTTTCCTTTCA	0.522000													9	111					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079969	29079969	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:29079969T>C	ENST00000377169.1	+	1	302	c.302T>C	c.(301-303)aTg>aCg	p.M101T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCTGGTTGCATGATTCAACTT	0.488000													59	129					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45281403	45281403	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:45281403G>T	ENST00000270279.3	+	1	278	c.215G>T	c.(214-216)gGt>gTt	p.G72V	CBLC_ENST00000341505.4_Missense_Mutation_p.G72V	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	72	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				ggccccgggggtcccggcggc	0.721000			M		AML								5	13					1.23904e-05	1.29824e-05	1	1	0
ERCC6	2074	broad.mit.edu	37	10	50691445	50691445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:50691445C>T	ENST00000355832.5	-	9	2017	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	ERCC6_ENST00000542458.1_Missense_Mutation_p.E17K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	647	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGTGTCCTTCGTCCAAGATC	0.408000								Direct reversal of damage;Nucleotide excision repair (NER)					24	57					0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100567163	100567163	+	RNA	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:100567163G>C	ENST00000548404.2	-	0	738				GOLGA2B_ENST00000397112.4_RNA																							AGCGTGTCCAGAGGGACCTGT	0.512000													9	11					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161571	90161571	+	RNA	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:90161571A>G	ENST00000567960.1	+	0	307				TUBB8P7_ENST00000564451.1_RNA																							CAACTGGGCCAAGGGACGCTA	0.577000													3	55					0	0	1	0	0
TRAP1	10131	broad.mit.edu	37	16	3739110	3739110	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:3739110G>A	ENST00000246957.5	-	3	364	c.276C>T	c.(274-276)gcC>gcT	p.A92A	TRAP1_ENST00000538171.1_Silent_p.A39A	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	92					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TCTTTGTCTCGGCCTGGAACT	0.438000													22	40					0	0	1	0	0
NQO1	1728	broad.mit.edu	37	16	69745127	69745127	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:69745127T>C	ENST00000320623.5	-	6	1088	c.577A>G	c.(577-579)Att>Gtt	p.I193V	NQO1_ENST00000564043.1_Missense_Mutation_p.I172V|NQO1_ENST00000561500.1_Missense_Mutation_p.I155V|NQO1_ENST00000439109.2_Missense_Mutation_p.I121V|NQO1_ENST00000379046.2_Missense_Mutation_p.I155V|NQO1_ENST00000379047.3_Missense_Mutation_p.I159V	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	193					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	GTGTGCCCAATGCTATATGTC	0.463000													65	169					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99478762	99478762	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:99478762C>T	ENST00000547776.2	-	16	2565	c.2566G>A	c.(2566-2568)Gga>Aga	p.G856R	ANKS1B_ENST00000549025.2_Missense_Mutation_p.G25R|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G82R|ANKS1B_ENST00000546568.1_Missense_Mutation_p.G82R|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G856R|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G432R|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G82R|ANKS1B_ENST00000547446.1_Missense_Mutation_p.G51R|ANKS1B_ENST00000550693.2_Missense_Mutation_p.G82R|ANKS1B_ENST00000332712.7_Missense_Mutation_p.G82R|ANKS1B_ENST00000549558.2_Missense_Mutation_p.G82R	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	856	SAM 1.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTAAGGATTCCAATTTCCAAC	0.378000													10	6					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59727981	59727981	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:59727981G>C	ENST00000361421.1	-	7	1528	c.1308C>G	c.(1306-1308)caC>caG	p.H436Q		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	436						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TGAGCGGCTGGTGCTGCTGCA	0.577000													25	43					0	0	1	0	0
GNAT3	346562	broad.mit.edu	37	7	80091852	80091852	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:80091852G>A	ENST00000398291.3	-	6	779	c.686C>T	c.(685-687)gCc>gTc	p.A229V	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	229					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CATGTCATAGGCACTAAGTGC	0.398000													26	59					0	0	1	0	0
RHBDD3	25807	broad.mit.edu	37	22	29656597	29656597	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:29656597G>A	ENST00000216085.7	-	6	1125	c.701C>T	c.(700-702)cCc>cTc	p.P234L		NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	234						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						TCCAGGGATGGGAGGCCTGGA	0.667000													8	12					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119281277	119281277	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:119281277G>T	ENST00000338891.7	-	18	3857	c.3414C>A	c.(3412-3414)ttC>ttA	p.F1138L	FAM184A_ENST00000521531.1_Missense_Mutation_p.F1054L|FAM184A_ENST00000352896.5_Missense_Mutation_p.F969L|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.F934L	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1138										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTCAGAATGTGAAGTACCGGG	0.428000													19	39					2.98393e-07	3.19744e-07	1	1	0
RUNDC3B	154661	broad.mit.edu	37	7	87369141	87369141	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:87369141G>A	ENST00000338056.3	+	6	955	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E165K|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E165K	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	182	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGTCTTGGGTGAAGAAGCAAA	0.303000													15	29					0	0	1	0	0
SCAMP2	10066	broad.mit.edu	37	15	75142895	75142895	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:75142895C>T	ENST00000268099.9	-	6	701	c.592G>A	c.(592-594)Gcc>Acc	p.A198T		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	198					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CAAAGGAAGGCACAGGGAGTG	0.562000													52	153					0	0	1	0	0
STK32C	282974	broad.mit.edu	37	10	134038745	134038745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:134038745G>A	ENST00000368622.1	-	7	898	c.517C>T	c.(517-519)Cga>Tga	p.R173*	STK32C_ENST00000368625.4_Nonsense_Mutation_p.R303*			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	290	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		ACCCATCCTCGCAGCAGCTCA	0.662000													9	24					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31308946	31308946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:31308946C>T	ENST00000544665.3	+	13	1539	c.1468C>T	c.(1468-1470)Cag>Tag	p.Q490*	ITGAM_ENST00000287497.8_Nonsense_Mutation_p.Q490*	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	490					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCGAGGGGGCCAGGTGTCCGT	0.706000													55	95					0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35196408	35196408	+	Silent	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:35196408C>A	ENST00000274938.7	+	3	226	c.226C>A	c.(226-228)Cga>Aga	p.R76R	SCUBE3_ENST00000394681.1_Silent_p.R76R	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	76	EGF-like 2; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TGAGTGCGAGCGAGAGGATAA	0.537000													12	20					0.00010058	0.000103618	1	1	0
RNF20	56254	broad.mit.edu	37	9	104302630	104302630	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:104302630T>C	ENST00000389120.3	+	3	365	c.275T>C	c.(274-276)aTt>aCt	p.I92T		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	92					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCACTATTGATTGTCAACCGA	0.408000													6	147					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187549880	187549880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:187549880G>C	ENST00000441802.2	-	8	4570	c.4361C>G	c.(4360-4362)cCt>cGt	p.P1454R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1454	Cadherin 12.				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						AGAAAACTGAGGACGATGGTC	0.333000										HNSCC(5;0.00058)			7	21					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25486971	25486971	+	RNA	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:25486971G>A	ENST00000453082.2	+	0	2156				SNORD115-39_ENST00000363694.1_RNA	NR_003343.1																						TTACGCTGAGGCCCAGCCTAG	0.488000													102	239					0	0	1	0	0
FOXF1	2294	broad.mit.edu	37	16	86546540	86546540	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:86546540G>A	ENST00000262426.4	+	2	1032	c.989G>A	c.(988-990)cGg>cAg	p.R330Q		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	330					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GGCATCCCGCGGTATCACTCG	0.632000													20	39					0	0	1	0	0
TMED5	50999	broad.mit.edu	37	1	93645724	93645724	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:93645724C>T	ENST00000370282.3	-	1	561	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	TMED5_ENST00000370280.1_Missense_Mutation_p.A26T|TMED5_ENST00000479918.1_Missense_Mutation_p.A26T|CCDC18_ENST00000343253.7_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	26					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		GTGAAGCCGGCCGCCCCAGGC	0.667000													33	76					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298689	125298689	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:125298689C>T	ENST00000538699.1	-	2	1299	c.1219G>A	c.(1219-1221)Ggc>Agc	p.G407S	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G407S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	407										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CAGCCTCTGCCGCAGGCAAGC	0.607000													58	39					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53580430	53580430	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:53580430C>T	ENST00000371494.4	-	3	558	c.431_splice	c.e3+1	p.R144_splice	SLC1A7_ENST00000371491.4_Splice_Site_p.R144_splice|RP11-334A14.8_ENST00000439621.1_RNA	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	144						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R144Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CAATAGTTACCGGATGAGGTC	0.657000													17	32					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68686347	68686347	+	Splice_Site	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:68686347T>C	ENST00000361320.4	+	1	582		c.e1+2		CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3							integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AAAGGATGGGTATGTTTTGTC	0.388000													55	133					0	0	1	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149376823	149376823	+	RNA	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:149376823G>A	ENST00000415338.1	-	0	1061																											AAGACCCTGCGAGGCAGGAAC	0.502000													4	24					0	0	1	0	0
PCOLCE	5118	broad.mit.edu	37	7	100205710	100205710	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:100205710C>T	ENST00000223061.5	+	9	1614	c.1334C>T	c.(1333-1335)gCt>gTt	p.A445V		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	445					multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGCGGGCTGCTGCGTCCCAG	0.562000													32	63					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482180	140482180	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140482180G>C	ENST00000231130.2	+	1	1947	c.1947G>C	c.(1945-1947)gaG>gaC	p.E649D		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		649	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATGGCGAGCCTCCGCGCT	0.716000													31	73					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43897177	43897177	+	Missense_Mutation	SNP	G	G	C	rs76392948		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:43897177G>C	ENST00000562955.1	+	34	4900	c.4900G>C	c.(4900-4902)Gag>Cag	p.E1634Q	SZT2_ENST00000372442.1_Missense_Mutation_p.E792Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1691						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTGGCTATTGAGACCACCAT	0.468000													44	98					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40778128	40778128	+	Silent	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:40778128C>G	ENST00000381782.2	+	7	1383	c.888C>G	c.(886-888)gtC>gtG	p.V296V	NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Silent_p.V296V	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATGATGATGTCTTAATGGTCA	0.338000													13	41					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24566860	24566860	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:24566860G>A	ENST00000535378.1	-	15	2872	c.2230C>T	c.(2230-2232)Ctg>Ttg	p.L744L	KIAA0319_ENST00000543707.1_Silent_p.L753L|KIAA0319_ENST00000430948.2_Silent_p.L708L|KIAA0319_ENST00000537886.1_Silent_p.L753L|KIAA0319_ENST00000378214.3_Silent_p.L753L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	753	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CGGATCCACAGATAGGACACA	0.488000													27	66					0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24546501	24546501	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:24546501C>T	ENST00000397016.2	+	16	1749	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	CPNE6_ENST00000537691.1_Missense_Mutation_p.R535W|CPNE6_ENST00000216775.2_Missense_Mutation_p.R480W			O95741	CPNE6_HUMAN	copine VI (neuronal)	480	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CTCTGACATGCGGCTGCTGGA	0.627000													37	23					0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30255303	30255303	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:30255303G>A	ENST00000417547.1	+	3	385	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	FSHB_ENST00000254122.3_Missense_Mutation_p.G116S|FSHB_ENST00000533718.1_Missense_Mutation_p.G116S	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	116					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	TACTGTGCGAGGCCTGGGGCC	0.507000													7	37					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11332360	11332360	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:11332360G>A	ENST00000315872.6	-	32	4525	c.4077C>T	c.(4075-4077)gcC>gcT	p.A1359A	ROCK2_ENST00000401753.1_Silent_p.A1116A	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1359					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GAGATGATCGGGCAAAAGGGT	0.428000													62	177					0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42813763	42813763	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:42813763G>T	ENST00000499536.2	+	1	838	c.27G>T	c.(25-27)caG>caT	p.Q9H	PRR19_ENST00000341747.3_Missense_Mutation_p.Q9H|PRR19_ENST00000598490.1_Missense_Mutation_p.Q9H			A6NJB7	PRR19_HUMAN	proline rich 19	9										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CAGTCTCCCAGCCTTTTCAGC	0.567000													49	64					3.21987e-24	3.96193e-24	1	1	0
NCAPD3	23310	broad.mit.edu	37	11	134073581	134073581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:134073581G>A	ENST00000534548.2	-	11	1500	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	479					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACTCTCCGACGCACTGGTAAC	0.488000													11	35					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1730164	1730164	+	Silent	SNP	C	C	T	rs142409115	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:1730164C>T	ENST00000313288.4	+	4	1141	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	345						centrosome		p.G345G(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TATCTGATGGCGCCACCAGCA	0.592000													10	53					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55519218	55519218	+	Silent	SNP	C	C	T	rs151071926		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:55519218C>T	ENST00000219070.4	+	4	1046	c.537C>T	c.(535-537)ggC>ggT	p.G179G	MMP2_ENST00000437642.2_Silent_p.G129G|MMP2_ENST00000570308.1_Silent_p.G103G|MMP2_ENST00000543485.1_Silent_p.G103G	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	179	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CAGAGCATGGCGATGGATACC	0.567000													40	105					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056117	26056117	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:26056117C>T	ENST00000343677.2	-	1	582	c.540G>A	c.(538-540)gcG>gcA	p.A180A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	180					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A180A(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGGGCTTCGCAACCTTGG	0.542000													59	117					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64521785	64521785	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:64521785G>T	ENST00000164139.3	-	9	1430	c.1032C>A	c.(1030-1032)tcC>tcA	p.S344S	PYGM_ENST00000377432.3_Silent_p.S256S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	344					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGATGGCCAGGGAGGGGTGGG	0.622000													31	67					8.16721e-17	9.66217e-17	1	1	0
NAV2	89797	broad.mit.edu	37	11	19914110	19914110	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:19914110C>A	ENST00000396085.1	+	6	1262	c.901C>A	c.(901-903)Cca>Aca	p.P301T	NAV2_ENST00000360655.4_Missense_Mutation_p.P237T|NAV2_ENST00000527559.2_Missense_Mutation_p.P253T|NAV2_ENST00000349880.4_Missense_Mutation_p.P301T|NAV2_ENST00000396087.3_Missense_Mutation_p.P324T|NAV2_ENST00000540292.1_Missense_Mutation_p.P255T	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	324						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGTCACCTCCCCACCCCCACC	0.527000													18	39					5.35267e-07	5.72567e-07	1	1	0
NLRP14	338323	broad.mit.edu	37	11	7064059	7064059	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:7064059T>G	ENST00000299481.4	+	4	1148	c.802T>G	c.(802-804)Ttt>Gtt	p.F268V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	268	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAACTTTGCCTTTGAAGAACC	0.478000													4	102					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75435995	75435995	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:75435995C>T	ENST00000297784.5	+	20	2541	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F	TMC1_ENST00000396237.3_Silent_p.F667F|TMC1_ENST00000340019.3_Silent_p.F667F|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	667					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GTGGTCCATTCAGGTCTCTTG	0.468000													50	129					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111114	55111114	+	Silent	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:55111114C>A	ENST00000314721.2	+	1	488	c.438C>A	c.(436-438)gcC>gcA	p.A146A		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGGTGGTGGCCATGATTGGAG	0.463000													25	74					8.24728e-16	9.64539e-16	1	1	0
HINFP	25988	broad.mit.edu	37	11	119003380	119003380	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:119003380A>G	ENST00000350777.2	+	7	827	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	HINFP_ENST00000527410.1_Missense_Mutation_p.Y255C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	255					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGAATCACTATAAGTGCCCT	0.572000													73	123					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141088	239141088	+	RNA	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:239141088C>T	ENST00000456601.1	+	0	764																											GATCAGATTGCGCGGTCTCTT	0.493000													26	39					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100479781	100479781	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:100479781G>A	ENST00000395996.1	+	24	3696	c.3585G>A	c.(3583-3585)acG>acA	p.T1195T	VPS13B_ENST00000358544.2_Silent_p.T1195T|VPS13B_ENST00000357162.2_Silent_p.T1195T			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1195					protein transport			p.T1195T(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGCTTGCTACGGGACCTGATA	0.433000													43	93					0	0	1	0	0
ABHD11	83451	broad.mit.edu	37	7	73151895	73151895	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:73151895C>A	ENST00000222800.3	-	3	528	c.459G>T	c.(457-459)caG>caT	p.Q153H	ABHD11_ENST00000437775.2_Missense_Mutation_p.Q146H|ABHD11_ENST00000458339.1_Missense_Mutation_p.Q153H|ABHD11_ENST00000395147.4_Missense_Mutation_p.Q153H	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	153							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGCTCACCCTCTGTAGTGCCA	0.617000													4	16					0.00909568	0.00924627	1	1	0
POTEF	728378	broad.mit.edu	37	2	130877830	130877830	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:130877830C>T	ENST00000357462.5	-	1	352	c.259G>A	c.(259-261)Gac>Aac	p.D87N	POTEF_ENST00000360967.5_Missense_Mutation_p.D87N|POTEF_ENST00000409914.2_Missense_Mutation_p.D87N|POTEF_ENST00000361163.4_Missense_Mutation_p.D87N			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	87						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCAGAGTCGTCGTGGTCTCCA	0.602000													10	391					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126883110	126883110	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:126883110C>T	ENST00000339582.2	-	2	957	c.149G>A	c.(148-150)gGt>gAt	p.G50D	GRM8_ENST00000358373.3_Missense_Mutation_p.G50D|GRM8_ENST00000405249.1_Missense_Mutation_p.G50D|GRM8_ENST00000444921.2_Missense_Mutation_p.G50D			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	50					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGGGAAGAGACCCCCCAAAAT	0.517000										HNSCC(24;0.065)			25	40					0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13884786	13884786	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:13884786G>A	ENST00000327606.3	-	2	912	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	244					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TACTTGGGCAGAATGTCATCA	0.527000													23	65					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56349243	56349243	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:56349243G>T	ENST00000340482.3	-	10	2075	c.1899C>A	c.(1897-1899)gcC>gcA	p.A633A	MPO_ENST00000225275.3_Silent_p.A601A			P05164	PERM_HUMAN	myeloperoxidase	601					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	AGCGCCTCCAGGCATTGTATC	0.582000													37	87					1.96642e-18	2.34899e-18	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20649625	20649625	+	RNA	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:20649625C>T	ENST00000428453.1	-	0	2573																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCCACCCGTCCTCTCCCAGCT	0.572000													38	152					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39068690	39068690	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:39068690C>T	ENST00000379907.4	+	12	1207	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	ADAM32_ENST00000437682.2_Intron|ADAM32_ENST00000519315.1_Intron	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	360	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AGACTTTTAGCAGTTGCAGTT	0.333000													12	22					0	0	1	0	0
SPATA19	219938	broad.mit.edu	37	11	133715268	133715268	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:133715268C>T	ENST00000299140.3	-	1	128	c.74G>A	c.(73-75)aGt>aAt	p.S25N	SPATA19_ENST00000532889.1_Missense_Mutation_p.S25N	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	25					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GCTTACCGAACTGGTTATTGG	0.423000													20	43					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89811661	89811661	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:89811661G>A	ENST00000310775.7	+	10	873	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	FANCI_ENST00000300027.8_Missense_Mutation_p.E263K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	263					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCCATCAGGTGAACTTCGTCA	0.428000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				35	94					0	0	1	0	0
PRPF4B	8899	broad.mit.edu	37	6	4049263	4049263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:4049263G>A	ENST00000337659.6	+	8	2049	c.1949G>A	c.(1948-1950)cGg>cAg	p.R650Q	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R636Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	650						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	p.R139L(1)|p.R650L(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GCTCGTCTTCGGGCCGCTGGC	0.408000													15	26					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51629383	51629383	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:51629383C>G	ENST00000440804.3	+	3	813	c.746C>G	c.(745-747)aCa>aGa	p.T249R	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.T249R	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	249	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGAGACGGCACAGGTAGGATG	0.597000													14	81					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151265717	151265717	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:151265717G>A	ENST00000367321.3	+	14	1810	c.1536G>A	c.(1534-1536)acG>acA	p.T512T		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	512	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ATGAAAACACGCAAACAGATA	0.468000													5	15					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85664916	85664916	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:85664916C>T	ENST00000322366.6	-	37	6417	c.6010G>A	c.(6010-6012)Gaa>Aaa	p.E2004K	WDFY3_ENST00000295888.4_Missense_Mutation_p.E2004K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2004						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTTTGAAATTCTTTTTGCTGA	0.323000													22	62					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124790324	124790324	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:124790324T>C	ENST00000334705.7	+	5	673	c.427T>C	c.(427-429)Tca>Cca	p.S143P	FAM91A1_ENST00000521166.1_Missense_Mutation_p.S143P	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	143										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TCAGTGTAGATCATCAAAAGT	0.299000													11	21					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73011953	73011953	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:73011953G>A	ENST00000313375.3	-	9	1209	c.1162C>T	c.(1162-1164)Ccc>Tcc	p.P388S	MLXIPL_ENST00000429400.2_Missense_Mutation_p.P388S|MLXIPL_ENST00000434326.1_Missense_Mutation_p.P295S|MLXIPL_ENST00000354613.1_Missense_Mutation_p.P388S|MLXIPL_ENST00000414749.2_Missense_Mutation_p.P388S|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P295S	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	388	Poly-Pro.				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACAGGAGGGGGTGGGAGCCGG	0.672000													10	12					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	98900392	98900392	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:98900392G>A	ENST00000254898.5	+	2	295	c.64G>A	c.(64-66)Gag>Aag	p.E22K	MATN2_ENST00000521689.1_Missense_Mutation_p.E22K|MATN2_ENST00000520016.1_Missense_Mutation_p.E22K|MATN2_ENST00000524308.1_Missense_Mutation_p.E22K|MATN2_ENST00000522025.2_Intron	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	22						proteinaceous extracellular matrix	calcium ion binding	p.E22K(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CCTCCCTGCCGAGGCCAGGGA	0.627000													15	22					0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78426800	78426800	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:78426800G>A	ENST00000274353.5	+	8	1189	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.R208Q	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	361					protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GCCTCAGGCCGGCCATACAAC	0.532000													77	87					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29997177	29997177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:29997177C>T	ENST00000308893.4	+	15	3030	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	TAOK2_ENST00000416441.2_Missense_Mutation_p.R490W|TAOK2_ENST00000543033.1_Missense_Mutation_p.R663W|TAOK2_ENST00000279394.3_Missense_Mutation_p.R663W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	663					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGACCTGCTGCGGGAGGTAGG	0.592000													18	24					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125587272	125587272	+	Silent	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:125587272T>C	ENST00000316519.6	+	6	824	c.618T>C	c.(616-618)tcT>tcC	p.S206S	AACS_ENST00000261686.6_Silent_p.S206S	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	206					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TCATCTTCTCTGTGGAGGCTG	0.502000													160	93					0	0	1	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647499	33647499	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:33647499C>A	ENST00000558425.1	-	2	100	c.101G>T	c.(100-102)gGg>gTg	p.G34V																								CAGGGACCCCCCAGGCTGTAC	0.567000													49	111					1.98717e-13	2.25948e-13	1	1	0
DNM2	1785	broad.mit.edu	37	19	10923013	10923013	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:10923013T>C	ENST00000314646.5	+	15	1795	c.1631T>C	c.(1630-1632)gTg>gCg	p.V544A	DNM2_ENST00000389253.4_Missense_Mutation_p.V544A|DNM2_ENST00000359692.6_Missense_Mutation_p.V540A|DNM2_ENST00000355667.6_Missense_Mutation_p.V544A|DNM2_ENST00000585892.1_Missense_Mutation_p.V544A|DNM2_ENST00000408974.4_Missense_Mutation_p.V540A			P50570	DYN2_HUMAN	dynamin 2	544	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TACTGGTTTGTGCTGACTGCC	0.622000			"""F, N, Splice, Mis, O"""		ETP ALL								10	9					0	0	1	0	0
OXSM	54995	broad.mit.edu	37	3	25832847	25832847	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:25832847C>T	ENST00000280701.3	+	2	435	c.336C>T	c.(334-336)atC>atT	p.I112I	OXSM_ENST00000449808.1_Intron|OXSM_ENST00000420173.2_Silent_p.I112I	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	112					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AATCAGATATCAAGTCCATGT	0.453000													24	20					0	0	1	0	0
MAB21L1	4081	broad.mit.edu	37	13	36050199	36050199	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:36050199G>A	ENST00000379919.4	-	1	633	c.77C>T	c.(76-78)gCc>gTc	p.A26V	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	26					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TTTGGCAATGGCAGCTTTCCT	0.502000													38	94					0	0	1	0	0
F12	2161	broad.mit.edu	37	5	176829388	176829388	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:176829388T>C	ENST00000253496.3	-	14	1801	c.1753A>G	c.(1753-1755)Agc>Ggc	p.S585G		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	585	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATCCCCAGCTGATGATGCCT	0.632000									Hereditary Angioedema				7	29					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36464327	36464327	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:36464327G>C	ENST00000265748.2	+	17	2906	c.2685G>C	c.(2683-2685)aaG>aaC	p.K895N	ANLN_ENST00000396068.2_Missense_Mutation_p.K858N	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	895	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCCTTGATAAGAAGAAAAAAA	0.294000													6	21					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71575657	71575657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:71575657C>T	ENST00000304743.2	+	34	7084	c.6638C>T	c.(6637-6639)gCg>gTg	p.A2213V	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.A2102V|PCNX_ENST00000238570.5_Missense_Mutation_p.A2141V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2213						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCTTTCTTGCGACAGAGGGA	0.567000													34	33					0	0	1	0	0
MGME1	92667	broad.mit.edu	37	20	17970729	17970729	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:17970729C>A	ENST00000377704.4	+	3	745	c.659C>A	c.(658-660)tCa>tAa	p.S220*	MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377709.1_Missense_Mutation_p.Q258K|MGME1_ENST00000377710.5_Missense_Mutation_p.Q338K					mitochondrial genome maintenance exonuclease 1																		CCAGAATATTCAGAAACCAGA	0.413000													27	28					9.65021e-13	1.0912e-12	1	1	0
UBASH3B	84959	broad.mit.edu	37	11	122666900	122666900	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:122666900C>T	ENST00000284273.5	+	8	1525	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	384	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCCCCAGAAGCGATGCCTTTT	0.547000											OREG0021442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	91					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10301888	10301888	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:10301888C>T	ENST00000403437.2	-	30	4145	c.4051G>A	c.(4051-4053)Gag>Aag	p.E1351K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1351					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCTCTTCCTCATACTGTTCC	0.572000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				54	128					0	0	1	0	0
JMJD6	23210	broad.mit.edu	37	17	74720008	74720008	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:74720008G>A	ENST00000445478.2	-	3	854	c.651C>T	c.(649-651)ctC>ctT	p.L217L	JMJD6_ENST00000397625.4_Silent_p.L217L|JMJD6_ENST00000585429.1_Silent_p.L217L	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	217	JmjC.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCACTTTGATGAGTTCCCTGG	0.542000													43	84					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32972342	32972342	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:32972342C>T	ENST00000544455.1	+	27	9919	c.9692C>T	c.(9691-9693)tCa>tTa	p.S3231L	BRCA2_ENST00000380152.3_Missense_Mutation_p.S3231L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3231					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTCCTTTATCACTTTGTATG	0.343000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			26	83					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61566564	61566564	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:61566564G>T	ENST00000398571.2	-	18	2742	c.2666C>A	c.(2665-2667)tCg>tAg	p.S889*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	889					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S889L(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACATACTAACGAACAAAGAAG	0.289000													15	22					3.27435e-08	3.54577e-08	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72822363	72822363	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:72822363G>A	ENST00000268489.5	-	10	10484	c.9812C>T	c.(9811-9813)aCg>aTg	p.T3271M	ZFHX3_ENST00000397992.5_Missense_Mutation_p.T2357M	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3271					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)				GGCTGAGATCGTGGCTGCAGT	0.602000													45	94					0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53077370	53077370	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:53077370G>T	ENST00000540331.1	+	3	393	c.168G>T	c.(166-168)cgG>cgT	p.R56R	ZNF701_ENST00000391785.3_5'UTR|ZNF701_ENST00000301093.2_Silent_p.R56R|ZNF701_ENST00000478039.1_3'UTR	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	211	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AAAAAACACGGAAGAGGAAGA	0.433000													21	58					0.000229342	0.000234302	1	1	0
OR10G9	219870	broad.mit.edu	37	11	123894262	123894262	+	Silent	SNP	G	G	A	rs139965523		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:123894262G>A	ENST00000375024.1	+	1	543	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGATGCACCGCCCATCCTGA	0.542000													75	130					0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78612017	78612017	+	Missense_Mutation	SNP	G	G	A	rs34067120		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:78612017G>A	ENST00000396137.4	+	10	3316	c.2854G>A	c.(2854-2856)Gat>Aat	p.D952N	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	952					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		ACTTCTACCCGATACAGACCC	0.418000													12	19					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74593273	74593273	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:74593273C>T	ENST00000253159.8	+	9	1414	c.1216C>T	c.(1216-1218)Cca>Tca	p.P406S	ZNF236_ENST00000320610.9_Missense_Mutation_p.P408S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	406					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTCTTCAATTCCAGCTGCAGC	0.483000													38	39					0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31488684	31488684	+	Silent	SNP	G	G	A	rs149594870		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:31488684G>A	ENST00000394863.3	+	11	1303	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	TGFB1I1_ENST00000361773.3_Silent_p.P374P|TGFB1I1_ENST00000394858.2_Silent_p.P374P|TGFB1I1_ENST00000567607.1_Silent_p.P374P	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	391	LIM zinc-binding 3.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						AGGGCCGCCCGTTGTGCGAGA	0.682000													14	16					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27900722	27900722	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:27900722G>A	ENST00000326019.6	+	8	1976	c.1694G>A	c.(1693-1695)aGg>aAg	p.R565K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	565						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TTTGAACTGAGGAAAGAACAA	0.353000													15	43					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170042112	170042112	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:170042112G>C	ENST00000284637.9	-	8	1716	c.1375C>G	c.(1375-1377)Cgg>Ggg	p.R459G	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	459	Interaction with AKT2 (By similarity).|SH3 3.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCCTCTTTCCGAGGAGTGTAT	0.403000													19	48					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21904050	21904050	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:21904050G>T	ENST00000374840.3	+	12	1734	c.1484G>T	c.(1483-1485)gGc>gTc	p.G495V	ALPL_ENST00000374832.1_Missense_Mutation_p.G495V|ALPL_ENST00000540617.1_Missense_Mutation_p.G440V|ALPL_ENST00000539907.1_Missense_Mutation_p.G418V|ALPL_ENST00000425315.2_Missense_Mutation_p.G495V|ALPL_ENST00000374829.1_Missense_Mutation_p.G141V|ALPL_ENST00000374830.1_Missense_Mutation_p.G141V	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	495					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.G495D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GCCAACCTCGGCCACTGTGCT	0.687000													18	28					1.50039e-11	1.67498e-11	1	1	0
SNORD115-44	100033818	broad.mit.edu	37	15	25496064	25496064	+	RNA	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:25496064C>T	ENST00000365391.1	+	0	59					NR_003359.1																						AAAAATCATGCTCAATAGGAT	0.517000													117	321					0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76868871	76868871	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:76868871G>T	ENST00000372702.3	-	1	108	c.45C>A	c.(43-45)gcC>gcA	p.A15A	DUSP13_ENST00000372700.3_Silent_p.A15A|DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000491677.2_5'UTR			Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	15						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGCAAGGCGTGGCTTTGTCCT	0.632000													16	44					4.7546e-09	5.17611e-09	1	1	0
ARHGAP29	9411	broad.mit.edu	37	1	94650429	94650429	+	Splice_Site	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:94650429T>C	ENST00000260526.6	-	18	2290	c.2109_splice	c.e18+1	p.Q703_splice	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	703	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATAATGTACCTGTAGACACAA	0.333000													11	29					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38188813	38188813	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:38188813G>A	ENST00000373048.4	-	10	1859	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	EPHA10_ENST00000427468.2_Silent_p.F620F|EPHA10_ENST00000330210.7_Silent_p.F115F|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Silent_p.F115F	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	620						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGGGTCCAGGAATGTGCGAC	0.597000													21	51					0	0	1	0	0
TRMU	55687	broad.mit.edu	37	22	46749737	46749737	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:46749737G>T	ENST00000290846.4	+	8	1186	c.846G>T	c.(844-846)aaG>aaT	p.K282N	TRMU_ENST00000381019.3_Missense_Mutation_p.K282N	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	282						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TGGTGGAGAAGGACAGCGTCA	0.582000													22	58					3.6726e-16	4.31162e-16	1	1	0
CDO1	1036	broad.mit.edu	37	5	115146921	115146921	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:115146921A>T	ENST00000250535.4	-	3	896	c.340T>A	c.(340-342)Tcc>Acc	p.S114T	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	114					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	ATCTCATTGGATTTTTTGTCA	0.403000													56	145					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30982757	30982757	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:30982757C>T	ENST00000262519.8	+	13	3761	c.3075C>T	c.(3073-3075)ggC>ggT	p.G1025G		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1025	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACTCAGATGGCGAAAATGACA	0.552000													47	130					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102296086	102296086	+	RNA	SNP	C	C	A	rs151047229		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:102296086C>A	ENST00000561463.1	+	0	4132																											CTCGTGGAGGCGTCGGCAGAG	0.607000													3	10					0.115264	0.11602	1	1	0
B3GNT6	192134	broad.mit.edu	37	11	76750627	76750627	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:76750627C>T	ENST00000533140.1	+	2	170	c.32C>T	c.(31-33)gCc>gTc	p.A11V	B3GNT6_ENST00000421061.1_Missense_Mutation_p.A11V|B3GNT6_ENST00000354301.5_Missense_Mutation_p.A11V			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	11					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						TCCCTGACTGCCAAGACTCTG	0.642000											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	158					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553159	106553159	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:106553159C>T	ENST00000369096.4	+	5	1358	c.1124C>T	c.(1123-1125)gCt>gTt	p.A375V	PRDM1_ENST00000369091.2_Missense_Mutation_p.A339V|PRDM1_ENST00000369089.3_Missense_Mutation_p.A241V	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	375					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GACTCCTACGCTTACTTGAAC	0.642000			"""D, N, Mis, F, S"""		DLBCL								27	63					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18276463	18276463	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:18276463G>T	ENST00000377369.2	+	7	1425	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	SLC39A12_ENST00000377374.4_Silent_p.G384G|SLC39A12_ENST00000539911.1_Silent_p.G250G|SLC39A12_ENST00000377371.3_Silent_p.G384G	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	384					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCATGCTGGGGACAGCGCTGG	0.562000													31	22					1.08312e-15	1.25954e-15	1	1	0
FMO1	2326	broad.mit.edu	37	1	171254589	171254589	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:171254589G>A	ENST00000354841.4	+	8	1636	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.R439Q|FMO1_ENST00000367750.3_Missense_Mutation_p.R502Q			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	502					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.R502Q(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCAAAGCTCGAGTTGTACAA	0.433000													18	27					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400649	43400649	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:43400649G>T	ENST00000244533.3	+	1	1161	c.802G>T	c.(802-804)Ggc>Tgc	p.G268C	ABCC10_ENST00000372530.4_Missense_Mutation_p.G311C|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	311						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCTACTGGTGGGCTTCCTGGA	0.612000													25	56					2.39556e-15	2.77001e-15	1	1	0
MEGF8	1954	broad.mit.edu	37	19	42848890	42848890	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:42848890G>T	ENST00000334370.4	+	12	2637	c.2002G>T	c.(2002-2004)Gtc>Ttc	p.V668F	MEGF8_ENST00000251268.6_Missense_Mutation_p.V668F	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	718						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCTGTCTTCGTCACGTCCCT	0.677000													22	64					1.10923e-09	1.21837e-09	1	1	0
GON4L	54856	broad.mit.edu	37	1	155796641	155796641	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:155796641G>A	ENST00000437809.1	-	3	806	c.684C>T	c.(682-684)ctC>ctT	p.L228L	GON4L_ENST00000271883.5_Silent_p.L228L|GON4L_ENST00000361040.5_Silent_p.L228L|GON4L_ENST00000368331.1_Silent_p.L228L|GON4L_ENST00000471341.1_5'UTR			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	228					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGGAATGAAGAGTCCACCAT	0.398000													23	56					0	0	1	0	0
MS4A15	219995	broad.mit.edu	37	11	60541334	60541334	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:60541334G>A	ENST00000405633.3	+	6	602	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	MS4A15_ENST00000337911.4_Missense_Mutation_p.V82M|MS4A15_ENST00000528170.1_Missense_Mutation_p.V134M	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	175						integral to membrane	receptor activity	p.V82M(1)		breast(1)|large_intestine(2)|lung(3)	6						CTATCTGGCCGTGCTTACTAT	0.577000													48	99					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15172092	15172092	+	Silent	SNP	A	A	G	rs140541523	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:15172092A>G	ENST00000355694.2	-	20	2010	c.1776T>C	c.(1774-1776)gaT>gaC	p.D592D	TTC39B_ENST00000380850.4_Silent_p.D645D|TTC39B_ENST00000512701.1_Silent_p.D658D|TTC39B_ENST00000507993.1_Silent_p.D493D|TTC39B_ENST00000507285.1_Silent_p.D493D|TTC39B_ENST00000297615.5_Silent_p.D589D	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	592							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CCAGGGAGTAATCTTTGTAGT	0.398000													25	39					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59934430	59934430	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:59934430G>A	ENST00000259008.2	-	4	635	c.368C>T	c.(367-369)tCa>tTa	p.S123L	BRIP1_ENST00000577598.1_Missense_Mutation_p.S123L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	123	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTGACAAGTTGATGAAGTGCC	0.338000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					38	104					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42767544	42767544	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:42767544G>T	ENST00000330714.3	+	7	1086	c.902G>T	c.(901-903)aGg>aTg	p.R301M	MX2_ENST00000543692.1_3'UTR|MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	301					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CTAATGGACAGGGGCACTGAG	0.507000													16	43					7.07596e-05	7.33892e-05	1	1	0
NUP54	53371	broad.mit.edu	37	4	77057545	77057545	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:77057545G>A	ENST00000264883.3	-	4	456	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	NUP54_ENST00000514987.1_Nonsense_Mutation_p.Q58*|NUP54_ENST00000458189.2_Intron|NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000515460.1_5'UTR	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	106	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TGTGTAGGCTGACTGAAGAGA	0.418000													18	54					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5353062	5353062	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:5353062G>A	ENST00000399537.4	-	27	7808	c.7460C>T	c.(7459-7461)cCg>cTg	p.P2487L	TNRC18_ENST00000430969.1_Missense_Mutation_p.P2487L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2487							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCCCGCCCCCGGATCCTCCCG	0.697000													9	20					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47753777	47753777	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:47753777C>T	ENST00000398545.4	-	8	1636	c.1519G>A	c.(1519-1521)Gca>Aca	p.A507T		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	507										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CTGGGGCATGCCTTGCGCATG	0.438000													25	15					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7909801	7909801	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:7909801C>T	ENST00000254854.4	+	4	1297	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	383					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.R383R(1)		skin(1)	1		Prostate(122;0.157)				CCGCCACATCCGGGATGCGCA	0.672000													22	47					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153245424	153245424	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:153245424G>A	ENST00000281708.4	-	11	2996	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L	FBXW7_ENST00000393956.3_Silent_p.L413L|FBXW7_ENST00000296555.5_Silent_p.L471L|FBXW7_ENST00000603841.1_Silent_p.L589L|FBXW7_ENST00000263981.5_Silent_p.L509L|FBXW7_ENST00000603548.1_Silent_p.L589L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	589					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TATTGTCTTTGAGTTCCATTC	0.408000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								13	34					0	0	1	0	0
EXTL2	2135	broad.mit.edu	37	1	101339656	101339656	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:101339656C>A	ENST00000370114.3	-	5	2271	c.835G>T	c.(835-837)Ggc>Tgc	p.G279C	EXTL2_ENST00000370113.3_Missense_Mutation_p.G279C|EXTL2_ENST00000535414.1_Missense_Mutation_p.G266C	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	279					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		CCAGAATAGCCACTGTTGGTT	0.388000													13	34					0.00010058	0.000103618	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25304613	25304613	+	RNA	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:25304613G>A	ENST00000549804.2	+	0	98																											GGGTGCCGAAGGTCTTTAAGG	0.502000													19	35					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242011234	242011234	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:242011234G>C	ENST00000310397.8	+	26	3758	c.3758G>C	c.(3757-3759)aGa>aCa	p.R1253T	SNED1_ENST00000401884.1_Missense_Mutation_p.R1253T|SNED1_ENST00000405547.3_Missense_Mutation_p.R1253T|SNED1_ENST00000342631.6_Missense_Mutation_p.R1253T	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1253					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GTGGACGGCAGAGGAAGAGTG	0.672000													4	16					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649624	20649624	+	RNA	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:20649624C>T	ENST00000428453.1	-	0	2574																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ATCCACCCGTCCTCTCCCAGC	0.572000													40	153					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123256095	123256095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:123256095G>A	ENST00000358487.5	-	13	2086	c.1814C>T	c.(1813-1815)tCa>tTa	p.S605L	FGFR2_ENST00000369059.1_Missense_Mutation_p.S491L|FGFR2_ENST00000478859.1_Missense_Mutation_p.S377L|FGFR2_ENST00000346997.2_Missense_Mutation_p.S603L|FGFR2_ENST00000360144.3_Missense_Mutation_p.S517L|FGFR2_ENST00000369056.1_Missense_Mutation_p.S606L|FGFR2_ENST00000369061.4_Missense_Mutation_p.S493L|FGFR2_ENST00000351936.6_Missense_Mutation_p.S603L|FGFR2_ENST00000457416.2_Missense_Mutation_p.S606L|FGFR2_ENST00000369060.4_Missense_Mutation_p.S489L|FGFR2_ENST00000356226.4_Missense_Mutation_p.S488L|FGFR2_ENST00000357555.5_Missense_Mutation_p.S516L	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	605	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTAGGTGCATGACACCAAGTC	0.517000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				106	251					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42559958	42559958	+	Silent	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:42559958T>C	ENST00000372901.1	+	3	666	c.408T>C	c.(406-408)caT>caC	p.H136H	UBR2_ENST00000372903.2_Silent_p.H136H|UBR2_ENST00000372899.1_Silent_p.H136H			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	136					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACAGAGATCATCGATATAGGG	0.308000													30	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179586717	179586717	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:179586717C>A	ENST00000589042.1	-	78	22897	c.22673G>T	c.(22672-22674)gGa>gTa	p.G7558V	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G7241V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6314V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7241	Ig-like 57.						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)			ATAGTTTCCTCCAGGACGGAT	0.418000													53	119					3.07002e-29	3.80806e-29	1	1	0
SAMD11	148398	broad.mit.edu	37	1	874667	874667	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:874667T>C	ENST00000342066.3	+	7	616	c.533T>C	c.(532-534)cTg>cCg	p.L178P		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	178						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCGCTGCTGCTGCCGCGGGAG	0.692000													7	12					0	0	1	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99512851	99512851	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:99512851G>A	ENST00000535714.1	-	4	817	c.12C>T	c.(10-12)gcC>gcT	p.A4A	PGPEP1L_ENST00000378919.6_Silent_p.A58A|RP11-654A16.3_ENST00000559468.1_RNA	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	58					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						TCGCCTTGGCGGCGGTGTCCA	0.612000													61	120					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65396297	65396297	+	Silent	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:65396297C>A	ENST00000355703.3	+	24	4358	c.3819C>A	c.(3817-3819)gcC>gcA	p.A1273A		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1273						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CAGACTCGGCCATGCTGTTCG	0.677000													11	14					6.81908e-15	7.85537e-15	1	1	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858798	149858798	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:149858798G>A	ENST00000331380.2	+	1	274	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	92					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCGCAACGACGAGGAACTGAA	0.597000													37	73					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													3	31					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328134	3328134	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:3328134C>A	ENST00000378398.3	+	10	1458	c.1376C>A	c.(1375-1377)gCc>gAc	p.A459D	PRDM16_ENST00000514189.1_Missense_Mutation_p.A459D|PRDM16_ENST00000442529.2_Missense_Mutation_p.A458D|PRDM16_ENST00000378391.2_Missense_Mutation_p.A458D|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.A459D|PRDM16_ENST00000270722.5_Missense_Mutation_p.A458D|PRDM16_ENST00000441472.2_Missense_Mutation_p.A458D			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	458	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCATCTTTGCCCCGGGCCTG	0.617000			T	EVI1	"""MDS, AML"""								29	97					1.88708e-17	2.24548e-17	1	1	0
NUTM2G	441457	broad.mit.edu	37	9	99697715	99697715	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:99697715G>A	ENST00000354649.3	+	3	1534	c.819G>A	c.(817-819)atG>atA	p.M273I	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.M273I	NM_001045477.2	NP_001038942.1			NUT family member 2G																		TTGACCGGATGATTTTCTACG	0.652000													36	89					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61103347	61103347	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:61103347A>G	ENST00000196169.3	+	11	2497	c.1709A>G	c.(1708-1710)aAc>aGc	p.N570S	TDRD3_ENST00000377881.2_Missense_Mutation_p.N570S|TDRD3_ENST00000535286.1_Missense_Mutation_p.N663S|TDRD3_ENST00000377894.2_Missense_Mutation_p.N570S	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	570	Tudor.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TGGGAAGACAACAAGGTATGG	0.333000													32	63					0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91491102	91491102	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:91491102T>C	ENST00000394275.2	+	14	2367	c.1532T>C	c.(1531-1533)cTg>cCg	p.L511P	UNC45A_ENST00000418476.2_Missense_Mutation_p.L526P	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	526					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACTCTCAAACTGGCTAAGCAG	0.572000													13	36					0	0	1	0	0
ZNF772	400720	broad.mit.edu	37	19	57985623	57985623	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:57985623C>A	ENST00000343280.4	-	5	749	c.489G>T	c.(487-489)caG>caT	p.Q163H	ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.Q51H|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.Q122H	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GGTGTGTTTCCTGGTGCTCAG	0.517000													24	63					4.87955e-14	5.58964e-14	1	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820331	159820331	+	RNA	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:159820331C>A	ENST00000497452.1	-	0	517																											AGACCCCCTCCCAACATGATC	0.463000													7	29					8.12818e-05	8.41603e-05	1	1	0
FOXK2	3607	broad.mit.edu	37	17	80559213	80559213	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:80559213C>T	ENST00000335255.5	+	9	1995	c.1821C>T	c.(1819-1821)caC>caT	p.H607H	FOXK2_ENST00000529652.1_3'UTR	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	607					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TGGCAACACACGCATCCGCAT	0.627000													22	58					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30791983	30791983	+	Silent	SNP	A	A	G	rs143104022	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:30791983A>G	ENST00000383096.3	-	20	2297	c.2115T>C	c.(2113-2115)caT>caC	p.H705H	CCDC178_ENST00000403303.1_Silent_p.H705H|CCDC178_ENST00000402325.1_Silent_p.H705H|CCDC178_ENST00000300227.8_Silent_p.H667H|CCDC178_ENST00000579947.1_Silent_p.H705H|CCDC178_ENST00000583930.1_Silent_p.H705H|CCDC178_ENST00000406524.2_Silent_p.H705H|CCDC178_ENST00000579916.1_Intron					coiled-coil domain containing 178																		CAGTTTGTGCATGTTCCCTTT	0.323000													3	9					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130982471	130982471	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:130982471G>T	ENST00000341179.7	+	6	792	c.700G>T	c.(700-702)Gtg>Ttg	p.V234L	DNM1_ENST00000372923.3_Missense_Mutation_p.V234L|DNM1_ENST00000486160.1_Missense_Mutation_p.V234L|DNM1_ENST00000475805.1_Missense_Mutation_p.V234L|DNM1_ENST00000393594.3_Missense_Mutation_p.V234L	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	234					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						CTACATTGGAGTGGTGAACCG	0.567000													47	107					2.43139e-17	2.88757e-17	1	1	0
PIK3CD	5293	broad.mit.edu	37	1	9775659	9775659	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:9775659T>C	ENST00000536656.1	+	4	410	c.202T>C	c.(202-204)Tat>Cat	p.Y68H	PIK3CD_ENST00000377346.4_Missense_Mutation_p.Y68H|PIK3CD_ENST00000361110.2_Missense_Mutation_p.Y68H			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	68					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCGAGGCCTATGTGTTCAC	0.647000													23	49					0	0	1	0	0
TMEM126A	84233	broad.mit.edu	37	11	85365269	85365269	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:85365269C>T	ENST00000304511.2	+	3	358	c.249C>T	c.(247-249)taC>taT	p.Y83Y	TMEM126A_ENST00000528105.1_Silent_p.Y13Y|TMEM126A_ENST00000532180.1_Silent_p.Y13Y	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN	transmembrane protein 126A	83						integral to membrane|mitochondrion				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ACTTAACTTACAGATGTTTTG	0.378000													18	59					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44422003	44422003	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:44422003C>A	ENST00000372343.3	+	3	1495	c.833C>A	c.(832-834)aCa>aAa	p.T278K	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	278					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TACGTGAACACACTCCTGAAA	0.532000													10	20					2.68362e-12	3.02338e-12	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139606317	139606317	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:139606317G>T	ENST00000303045.6	-	63	5004	c.4558C>A	c.(4558-4560)Cca>Aca	p.P1520T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1500T|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1520	Collagen-like 15.|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)			GGACGACCTGGCTCCCCCATG	0.647000										HNSCC(7;0.00092)			26	36					2.79863e-10	3.09058e-10	1	1	0
XPO5	57510	broad.mit.edu	37	6	43492366	43492366	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:43492366C>A	ENST00000265351.7	-	31	3530	c.3320G>T	c.(3319-3321)aGg>aTg	p.R1107M	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	1107					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CTCCAGGTACCTGGGGCGCTG	0.483000													31	78					6.53348e-20	7.91234e-20	1	1	0
FNDC1	84624	broad.mit.edu	37	6	159653322	159653322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:159653322G>A	ENST00000297267.9	+	11	1978	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q	FNDC1_ENST00000340366.6_Missense_Mutation_p.R530Q	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	593						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCGCTGCCCCGAAGGGAAGGC	0.697000													6	14					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76231057	76231057	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:76231057G>T	ENST00000298832.9	+	19	1855	c.1650G>T	c.(1648-1650)gaG>gaT	p.E550D	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.E564D|TTLL5_ENST00000554510.1_Missense_Mutation_p.E59D|TTLL5_ENST00000556893.1_Missense_Mutation_p.E101D	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	550					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGTCTCTGGAGGTGCGAAAAC	0.502000													35	26					4.11147e-13	4.65765e-13	1	1	0
MZF1	7593	broad.mit.edu	37	19	59073882	59073882	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:59073882G>A	ENST00000215057.2	-	6	2322	c.1762C>T	c.(1762-1764)Ctc>Ttc	p.L588F	AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.L588F|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	588					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TGTACGCGGAGATGCTGCGTG	0.682000													9	18					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78011321	78011321	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:78011321C>T	ENST00000435339.2	+	2	1360	c.955C>T	c.(955-957)Cag>Tag	p.Q319*	LPAR4_ENST00000373301.2_Nonsense_Mutation_p.Q319*	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	319						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGAATCCTTTCAGAAGTCCTT	0.428000													45	24					0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135917545	135917545	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:135917545C>T	ENST00000372097.5	+	2	548	c.225C>T	c.(223-225)tgC>tgT	p.C75C	GTF3C5_ENST00000342018.8_Silent_p.C75C|GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000372095.5_Intron|GTF3C5_ENST00000372099.6_Silent_p.C66C|GTF3C5_ENST00000372108.5_Silent_p.C75C	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	75						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ACCCAGTGTGCGCCAACCGCT	0.612000													33	79					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114136094	114136094	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:114136094C>T	ENST00000356116.1	+	1	139	c.27C>T	c.(25-27)ctC>ctT	p.L9L	ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000354273.4_5'UTR|ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000393081.1_Intron	NM_016234.3	NP_057318.2	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CACCCTGTCTCTGGAGGAACC	0.617000													47	119					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109797107	109797107	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:109797107C>G	ENST00000297459.3	-	2	399	c.221G>C	c.(220-222)aGt>aCt	p.S74T	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	74					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CTGAAGAGTACTGTTTTGCAG	0.502000													45	107					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125872376	125872376	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:125872376C>T	ENST00000393434.2	-	7	1118	c.769G>A	c.(769-771)Gag>Aag	p.E257K	ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E257K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E267K|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.E156K|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.E82K|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.E257K	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	257					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCGTCTCCCTCGGGCACCAGG	0.537000													29	67					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181764067	181764067	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:181764067C>T	ENST00000526775.1	+	44	6074	c.5909C>T	c.(5908-5910)tCg>tTg	p.S1970L	CACNA1E_ENST00000358338.5_Missense_Mutation_p.S1921L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S1983L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2032L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S1989L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2013L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1596L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2032					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.S1989L(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCAAATTCCTCGTGGTTGGAG	0.527000													16	42					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5153527	5153527	+	Missense_Mutation	SNP	G	G	C	rs144879674	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:5153527G>C	ENST00000252321.3	+	1	443	c.214G>C	c.(214-216)Gac>Cac	p.D72H		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	72	2 X 11 AA tandem repeat of D-[SP]-G-V-R- P-L-P-P-L-P.					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TCCGCTGCCGGACCCGGGAGT	0.751000													4	4					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126432787	126432787	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:126432787C>A	ENST00000525144.2	-	2	325	c.76G>T	c.(76-78)Gga>Tga	p.G26*	KIRREL3-AS1_ENST00000548204.1_RNA|KIRREL3_ENST00000529097.2_Nonsense_Mutation_p.G26*|KIRREL3_ENST00000533026.2_5'UTR|KIRREL3_ENST00000525704.2_Nonsense_Mutation_p.G26*	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	26					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		AGACAGCATCCTCTCTTCTGG	0.567000													20	61					1.40151e-16	1.64852e-16	1	1	0
AK9	221264	broad.mit.edu	37	6	109867141	109867141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:109867141C>T	ENST00000424296.2	-	26	3230	c.3154G>A	c.(3154-3156)Gcc>Acc	p.A1052T	AK9_ENST00000355283.1_Missense_Mutation_p.A131T|AK9_ENST00000341338.6_Missense_Mutation_p.A131T	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		TCTTGTTTGGCAGCTTGCTCG	0.353000													22	47					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148895683	148895683	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:148895683C>A	ENST00000264613.6	-	17	3224	c.2962G>T	c.(2962-2964)Ggc>Tgc	p.G988C		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	988	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATTTCATTGCCCATTCCCATC	0.418000													33	65					1.26612e-14	1.4558e-14	1	1	0
FAM71A	149647	broad.mit.edu	37	1	212798649	212798649	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:212798649G>A	ENST00000294829.3	+	1	861	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	144										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CCTGAAGTTCGCCACTGGCAG	0.507000													39	111					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54784137	54784137	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:54784137C>T	ENST00000218436.6	-	8	2399	c.2370G>A	c.(2368-2370)tcG>tcA	p.S790S		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	790	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GTTGGGGGTGCGATGGAGCAC	0.547000													46	22					0	0	1	0	0
OCEL1	79629	broad.mit.edu	37	19	17339665	17339665	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:17339665G>A	ENST00000215061.4	+	6	770	c.726G>A	c.(724-726)ctG>ctA	p.L242L	OCEL1_ENST00000601529.1_3'UTR|OCEL1_ENST00000597836.1_Silent_p.L186L	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	242										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						AGGGTAAACTGAGGCATCTCA	0.572000													30	55					0	0	1	0	0
SVIP	258010	broad.mit.edu	37	11	22848833	22848833	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:22848833C>T	ENST00000354193.4	-	3	255	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	SVIP_ENST00000533774.1_5'UTR	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	47						Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						TTTTCTTGCACAGATTGAACA	0.348000													32	72					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80043275	80043275	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:80043275C>T	ENST00000306749.2	-	24	4344	c.4126G>A	c.(4126-4128)Gcg>Acg	p.A1376T		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1376					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CTCTCCCACGCGTCCTGTGGG	0.731000													5	22					0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67206256	67206256	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:67206256G>A	ENST00000393893.1	-	11	1333	c.1230C>T	c.(1228-1230)aaC>aaT	p.N410N	CORO1B_ENST00000341356.5_Silent_p.N410N|CORO1B_ENST00000539724.1_5'UTR	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	410					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CAGACAACACGTTGCGCCGGC	0.706000													5	10					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48626818	48626818	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:48626818T>A	ENST00000435803.1	+	57	14598	c.14574T>A	c.(14572-14574)agT>agA	p.S4858R	ABCA13_ENST00000544596.1_Missense_Mutation_p.S588R	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4858	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCACCTACAGTGGGGGAACCA	0.532000													6	17					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187629214	187629214	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:187629214T>A	ENST00000441802.2	-	2	1977	c.1768A>T	c.(1768-1770)Act>Tct	p.T590S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	590	Cadherin 5.				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						GCAGAAACAGTGGTTATTTGC	0.393000										HNSCC(5;0.00058)			8	22					0	0	1	0	0
BIRC5	332	broad.mit.edu	37	17	76212113	76212113	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:76212113G>A	ENST00000301633.4	+	3	419	c.288G>A	c.(286-288)acG>acA	p.T96T	AC087645.1_ENST00000600484.1_Intron|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000350051.3_Intron|BIRC5_ENST00000592734.1_Intron	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	74					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			ggcggatcacgaggtcaggag	0.557000													7	19					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37255248	37255248	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:37255248T>C	ENST00000233099.5	-	24	3766	c.3671A>G	c.(3670-3672)gAt>gGt	p.D1224G	HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1224G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1224							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CATGGTATCATCATCCATCTC	0.408000													8	53					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6103232	6103232	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:6103232G>C	ENST00000261405.5	-	37	6648	c.6394C>G	c.(6394-6396)Ctt>Gtt	p.L2132V		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2132	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCGGGGACAAGACACTGCTCC	0.582000													12	35					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968077	99968077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:99968077G>A	ENST00000298999.3	+	5	509	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.R69Q|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		CCGGAGGCTCGAAGACTAAAT	0.353000													35	65					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7091526	7091526	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:7091526C>A	ENST00000299481.4	+	11	3331	c.2985C>A	c.(2983-2985)taC>taA	p.Y995*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	995					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGTTGGAATACTGTGGTTTGA	0.378000													12	29					1.08611e-07	1.1679e-07	1	1	0
SOHLH2	54937	broad.mit.edu	37	13	36744834	36744834	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:36744834G>A	ENST00000379881.3	-	10	1179	c.1091C>T	c.(1090-1092)aCt>aTt	p.T364I	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.T441I|SOHLH2_ENST00000554962.1_Missense_Mutation_p.T441I	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		ATATCTGACAGTATGCAAGGA	0.428000													42	93					0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6459602	6459602	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:6459602G>A	ENST00000265983.3	-	5	574	c.474C>T	c.(472-474)ggC>ggT	p.G158G	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	158					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		AGAAGAGGACGCCTTCAGCTT	0.502000													69	144					0	0	1	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67069096	67069096	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:67069096C>T	ENST00000447274.2	+	13	2400	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.L496F|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.L146F|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.L409F|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.L409F|ANKRD13D_ENST00000504236.1_3'UTR			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	409										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCAGAGCCTGCTTGAAGCGGG	0.662000													28	58					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480776	57480776	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:57480776C>T	ENST00000371236.2	-	12	1487	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	DAB1_ENST00000371231.1_Silent_p.Q441Q|DAB1_ENST00000439789.2_Silent_p.Q322Q|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.Q408Q|DAB1_ENST00000420954.2_Silent_p.Q406Q|DAB1_ENST00000414851.2_Silent_p.Q390Q			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	441					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCCCATTTTCTGCCTGGGCT	0.617000													32	56					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31364661	31364661	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:31364661T>G	ENST00000355683.5	-	16	2313	c.2098A>C	c.(2098-2100)Ata>Cta	p.I700L	STRN3_ENST00000357479.5_Missense_Mutation_p.I784L	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	784					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GCACTAGCTATATATGCTTTT	0.378000													6	12					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46760000	46760000	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:46760000G>A	ENST00000262738.3	-	34	8927	c.8928C>T	c.(8926-8928)tgC>tgT	p.C2976C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2976					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGTGATGGCGCAGTCGGGGC	0.697000													18	53					0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4500478	4500478	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:4500478G>A	ENST00000262375.6	+	10	1396	c.1319G>A	c.(1318-1320)gGc>gAc	p.G440D	DNAJA3_ENST00000431375.2_Missense_Mutation_p.G287D|DNAJA3_ENST00000355296.4_Missense_Mutation_p.G440D	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	440					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						ACGGTGAACGGCGTCACCCTC	0.607000													5	10					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70866892	70866892	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:70866892C>T	ENST00000393567.2	-	80	13908	c.13758G>A	c.(13756-13758)gaG>gaA	p.E4586E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4586										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAAAAGAAACCTCCATGCCTG	0.428000													6	16					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44798983	44798983	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:44798983C>A	ENST00000309315.4	+	7	1040	c.917C>A	c.(916-918)cCt>cAt	p.P306H	ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P274H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P306H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P306H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P274H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	306	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTTCCTACCCTGGGCACAGG	0.672000													38	76					6.29468e-14	7.19727e-14	1	1	0
CDH4	1002	broad.mit.edu	37	20	60511926	60511926	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:60511926C>A	ENST00000360469.5	+	16	2764	c.2676C>A	c.(2674-2676)gaC>gaA	p.D892E	CDH4_ENST00000543233.1_Missense_Mutation_p.D818E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	892					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGACCAAGACTACGATTACC	0.592000													16	46					1.37285e-15	1.59344e-15	1	1	0
MARCKS	4082	broad.mit.edu	37	6	114181119	114181119	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:114181119C>T	ENST00000368635.4	+	2	744	c.363C>T	c.(361-363)gcC>gcT	p.A121A		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	121					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CGCCCACGGCCGCGGAGGGAG	0.751000													8	6					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89811724	89811724	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:89811724G>A	ENST00000310775.7	+	10	936	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	FANCI_ENST00000300027.8_Missense_Mutation_p.E284K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	284					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATTGGACTATGAACTAGGCAG	0.403000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				51	93					0	0	1	0	0
MAGED2	10916	broad.mit.edu	37	X	54841145	54841145	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:54841145C>A	ENST00000375068.1	+	11	1556	c.1323C>A	c.(1321-1323)ttC>ttA	p.F441L	MAGED2_ENST00000375058.1_Missense_Mutation_p.F441L|MAGED2_ENST00000375060.1_Missense_Mutation_p.F356L|MAGED2_ENST00000375053.2_Missense_Mutation_p.F441L|MAGED2_ENST00000375062.4_Missense_Mutation_p.F356L|MAGED2_ENST00000218439.4_Missense_Mutation_p.F441L|MAGED2_ENST00000396224.1_Missense_Mutation_p.F441L|MAGED2_ENST00000347546.3_Missense_Mutation_p.F385L|MAGED2_ENST00000343474.6_Missense_Mutation_p.F423L			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	441	MAGE.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						AATATGAGTTCTTCTGGGGCC	0.478000													21	14					9.95505e-16	1.16205e-15	1	1	0
PCNXL2	80003	broad.mit.edu	37	1	233313604	233313604	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:233313604G>C	ENST00000258229.8	-	17	3451	c.3217C>G	c.(3217-3219)Caa>Gaa	p.Q1073E	PCNXL2_ENST00000488780.2_Missense_Mutation_p.Q206E	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1073						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCCAGATTTTGATGTAAAAAT	0.433000													23	34					0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45537531	45537531	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:45537531C>T	ENST00000221452.8	+	10	1387	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	RELB_ENST00000505236.1_Missense_Mutation_p.R410W|RELB_ENST00000540120.1_Missense_Mutation_p.R413W	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	413	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GAAGCGGAAACGGGGGATGCC	0.512000													27	44					0	0	1	0	0
MPV17	4358	broad.mit.edu	37	2	27534804	27534804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:27534804G>A	ENST00000357186.6	-	5	1485	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	MPV17_ENST00000402310.1_Intron|MPV17_ENST00000233545.2_Nonsense_Mutation_p.Q142*|MPV17_ENST00000380044.1_Nonsense_Mutation_p.Q142*|MPV17_ENST00000405076.1_Nonsense_Mutation_p.Q79*|MPV17_ENST00000405983.1_Nonsense_Mutation_p.Q157*|MPV17_ENST00000402722.1_Intron|MPV17_ENST00000403262.2_Nonsense_Mutation_p.Q142*			P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	142					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGCTAACTGCACAGCAGGC	0.532000													10	34					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31673039	31673039	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:31673039C>T	ENST00000340552.4	+	15	2204	c.1974C>T	c.(1972-1974)gaC>gaT	p.D658D	LIMK2_ENST00000406516.1_Silent_p.D601D|LIMK2_ENST00000333611.4_Intron|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000331728.4_Intron|LIMK2_ENST00000467301.1_Intron	NM_001031801.1	NP_001026971.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	0						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TGCTGGTTGACTGTTACAAAC	0.567000													23	59					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64984670	64984670	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:64984670C>A	ENST00000394156.3	-	12	2347	c.1894_splice	c.e12+1	p.G632_splice	CDH11_ENST00000566827.1_Splice_Site_p.V506_splice|CDH11_ENST00000268603.4_Splice_Site_p.V632_splice			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	0					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCGCCCTTACCCAGGAGAATG	0.617000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			14	35					2.31682e-05	2.41516e-05	1	1	0
PRRT1	80863	broad.mit.edu	37	6	32117130	32117130	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:32117130C>T	ENST00000211413.5	-	4	914	c.790G>A	c.(790-792)Gct>Act	p.A264T	PRRT1_ENST00000375150.2_Missense_Mutation_p.A183T|PRRT1_ENST00000375152.2_Missense_Mutation_p.A183T|PRRT1_ENST00000467780.1_5'UTR	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	264					response to biotic stimulus	integral to membrane		p.A264T(1)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TCGCGTGAAGCGATCTCGGCC	0.652000													6	14					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82337412	82337412	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:82337412G>T	ENST00000376520.4	+	19	2957	c.2129G>T	c.(2128-2130)gGg>gTg	p.G710V	TLE4_ENST00000376544.3_Missense_Mutation_p.G609V|TLE4_ENST00000376552.2_Missense_Mutation_p.G678V|TLE4_ENST00000376534.4_Missense_Mutation_p.G315V|TLE4_ENST00000265284.6_Missense_Mutation_p.G653V|TLE4_ENST00000376537.4_Missense_Mutation_p.G710V			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTTGCAGTGGGGATGGAGAAC	0.478000													17	41					9.16793e-09	9.96302e-09	1	1	0
C19orf12	83636	broad.mit.edu	37	19	30199207	30199207	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:30199207C>A	ENST00000323670.9	-	2	253	c.114G>T	c.(112-114)atG>atT	p.M38I	C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000392278.2_Missense_Mutation_p.M49I|C19orf12_ENST00000592153.1_Missense_Mutation_p.M38I	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	38						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CGACGAAGGCCATGGCCCCTG	0.612000													29	66					7.38237e-10	8.13783e-10	1	1	0
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167																											AGGTTCTTGCGCAGAATTCTG	0.383000													3	21					0.115264	0.11602	1	1	0
FCGRT	2217	broad.mit.edu	37	19	50029365	50029365	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:50029365G>A	ENST00000221466.5	+	7	1573	c.1087G>A	c.(1087-1089)Gcc>Acc	p.A363T	FCGRT_ENST00000596975.1_Missense_Mutation_p.A271T|FCGRT_ENST00000599988.1_Missense_Mutation_p.A97T|FCGRT_ENST00000426395.3_Missense_Mutation_p.A363T	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	363					antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TGTGATTCCAGCCACCGCCTG	0.582000													46	106					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144997785	144997785	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:144997785C>T	ENST00000322810.4	-	31	6892	c.6723G>A	c.(6721-6723)gcG>gcA	p.A2241A	PLEC_ENST00000356346.3_Silent_p.A2090A|PLEC_ENST00000398774.2_Silent_p.A2072A|PLEC_ENST00000436759.2_Silent_p.A2131A|PLEC_ENST00000527096.1_Silent_p.A2127A|PLEC_ENST00000354589.3_Silent_p.A2104A|PLEC_ENST00000345136.3_Silent_p.A2104A|PLEC_ENST00000357649.2_Silent_p.A2108A|PLEC_ENST00000354958.2_Silent_p.A2082A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2241	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGACTGCGCCGCCTCACGCT	0.756000													14	12					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98232133	98232133	+	Silent	SNP	G	G	A	rs145690756		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:98232133G>A	ENST00000430669.2	-	13	2196	c.1611C>T	c.(1609-1611)cgC>cgT	p.R537R	PTCH1_ENST00000437951.1_Silent_p.R537R|PTCH1_ENST00000429896.2_Silent_p.R452R|PTCH1_ENST00000331920.6_Silent_p.R603R|PTCH1_ENST00000375274.2_Silent_p.R602R|PTCH1_ENST00000421141.1_Silent_p.R452R|PTCH1_ENST00000418258.1_Silent_p.R452R			Q13635	PTC1_HUMAN	patched 1	603	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.R602R(2)|p.R603R(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TCCTGTCCTCGCGTCGATATA	0.438000													54	105					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102337234	102337234	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:102337234G>A	ENST00000395065.3	-	9	940	c.839C>T	c.(838-840)gCg>gTg	p.A280V	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.A191V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	280						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GCTTCTGTCCGCACACTTCTC	0.522000													4	114					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10328246	10328246	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:10328246C>T	ENST00000377086.1	+	7	847	c.645C>T	c.(643-645)agC>agT	p.S215S	KIF1B_ENST00000263934.6_Silent_p.S215S|KIF1B_ENST00000377081.1_Silent_p.S215S|KIF1B_ENST00000377093.4_Silent_p.S215S|KIF1B_ENST00000377083.1_Silent_p.S215S			O60333	KIF1B_HUMAN	kinesin family member 1B	215	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAACAAGTAGCCGTTCCCACG	0.433000													10	16					0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94340739	94340739	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:94340739C>T	ENST00000299001.6	+	14	1984	c.1773C>T	c.(1771-1773)atC>atT	p.I591I	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	591	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGATGAGTATCGCCACCAAGA	0.448000													20	45					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19377681	19377681	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:19377681C>A	ENST00000550708.1	+	1	160	c.88C>A	c.(88-90)Caa>Aaa	p.Q30K		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTATACTCCAAGGTTTCAC	0.413000													29	83					1.2476e-16	1.47313e-16	1	1	0
CCDC7	221016	broad.mit.edu	37	10	32740782	32740782	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:32740782C>T	ENST00000545067.1	+	2	508	c.212C>T	c.(211-213)tCg>tTg	p.S71L	CCDC7_ENST00000535327.1_Missense_Mutation_p.S71L|CCDC7_ENST00000539197.1_Missense_Mutation_p.S71L|CCDC7_ENST00000362006.5_Missense_Mutation_p.S71L|CCDC7_ENST00000537047.1_Missense_Mutation_p.S71L|CCDC7_ENST00000277657.6_Missense_Mutation_p.S71L			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	71										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				CCCATTCCATCGAGTAAGACA	0.368000													6	14					0	0	1	0	0
ANXA4	307	broad.mit.edu	37	2	70047928	70047928	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:70047928G>A	ENST00000394295.4	+	12	1129	c.881G>A	c.(880-882)gGa>gAa	p.G294E	ANXA4_ENST00000536030.1_Missense_Mutation_p.G210E|ANXA4_ENST00000409920.1_Missense_Mutation_p.G272E	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	292					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						AGACTCTATGGAAAGTCTCTG	0.478000													31	66					0	0	1	0	0
CXXC5	51523	broad.mit.edu	37	5	139060660	139060660	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:139060660C>T	ENST00000302517.3	+	2	1266	c.552C>T	c.(550-552)agC>agT	p.S184S	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Silent_p.S184S	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	184					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGATGAGCGAGGCGGGTG	0.652000													14	36					0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27374287	27374287	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:27374287G>A	ENST00000395762.2	+	11	1873	c.1614G>A	c.(1612-1614)gaG>gaA	p.E538E	IL4R_ENST00000380922.3_Silent_p.E523E|IL4R_ENST00000543915.2_Silent_p.E538E|IL4R_ENST00000170630.2_Silent_p.E538E	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	538	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AGCTCTCTGAGCCAACCACTG	0.647000													30	49					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100345978	100345978	+	RNA	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:100345978C>T	ENST00000542585.1	+	0	1282				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTGAAGACAACGCCCATCCCT	0.582000													21	51					0	0	1	0	0
RNASE9	390443	broad.mit.edu	37	14	21025078	21025078	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:21025078A>T	ENST00000557068.1	-	4	1876	c.151T>A	c.(151-153)Ttt>Att	p.F51I	RNASE9_ENST00000338904.3_Missense_Mutation_p.F51I|RNASE9_ENST00000554964.1_Missense_Mutation_p.F51I|RNASE9_ENST00000553706.1_Missense_Mutation_p.F56I|RNASE9_ENST00000553541.1_Missense_Mutation_p.F51I|RNASE9_ENST00000557209.1_Missense_Mutation_p.F56I|RNASE9_ENST00000429244.2_Missense_Mutation_p.F51I|RNASE9_ENST00000556208.1_Missense_Mutation_p.F56I|RNASE9_ENST00000404716.3_Missense_Mutation_p.F56I|RNASE9_ENST00000555230.1_Missense_Mutation_p.F51I			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	51						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.F51I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GTACTAAAAAATTTTTCCAAA	0.403000													26	62					0	0	1	0	0
AGTRAP	57085	broad.mit.edu	37	1	11810281	11810281	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:11810281G>T	ENST00000510878.1	+	4	440	c.406G>T	c.(406-408)Ggc>Tgc	p.G136C	AGTRAP_ENST00000314340.5_3'UTR|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000400895.2_3'UTR|AGTRAP_ENST00000376629.4_3'UTR|AGTRAP_ENST00000376637.3_3'UTR			Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	0						cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGCCCCGGGCCTTCCTCG	0.637000													7	14					1.26484e-09	1.38681e-09	1	1	0
MADD	8567	broad.mit.edu	37	11	47345332	47345332	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:47345332C>T	ENST00000342922.4	+	28	4668	c.4311C>T	c.(4309-4311)tgC>tgT	p.C1437C	MADD_ENST00000402799.1_Silent_p.C1394C|MADD_ENST00000402192.2_Silent_p.C1436C|MADD_ENST00000395344.3_Silent_p.C1390C|MADD_ENST00000395336.3_Silent_p.C1496C|MADD_ENST00000405573.2_Silent_p.C306C|MADD_ENST00000407859.3_Silent_p.C1414C|MADD_ENST00000311027.5_Silent_p.C1496C|MADD_ENST00000349238.3_Silent_p.C1457C|MADD_ENST00000406482.1_Silent_p.C1394C	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1496					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGGTGTTGTGCTTGTGGCGTA	0.488000													13	39					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22866731	22866731	+	Silent	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:22866731T>C	ENST00000283645.4	+	17	2473	c.2343T>C	c.(2341-2343)ttT>ttC	p.F781F	TUBGCP5_ENST00000453949.2_Silent_p.F781F	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	781					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CTATATCTTTTGAAAATGTTG	0.338000													5	17					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30941236	30941236	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:30941236G>A	ENST00000298139.5	+	10	1540	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	431	2 X 27 AA tandem repeats of H-L-S-P-N-D- N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L- K.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAATGATAATGAAAACGATAC	0.284000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				6	33					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141542697	141542697	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:141542697C>T	ENST00000220592.5	-	18	2401	c.2289G>A	c.(2287-2289)tcG>tcA	p.S763S	AGO2_ENST00000519980.1_Silent_p.S729S	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CGTGATAGTGCGAAGGCCTGC	0.468000													21	43					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170965697	170965697	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:170965697C>A	ENST00000367759.4	+	14	1541	c.1387C>A	c.(1387-1389)Cag>Aag	p.Q463K	MROH9_ENST00000367758.3_Missense_Mutation_p.Q463K	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TGGACTGCAACAGGTGGATAT	0.428000													40	62					3.38236e-24	4.15353e-24	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60909061	60909061	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:60909061G>T	ENST00000252999.3	-	23	2840	c.2774C>A	c.(2773-2775)cCt>cAt	p.P925H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	925	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAAAGGTCAGGGGAGGTCAG	0.667000													10	23					0.000151284	0.000155332	1	1	0
AP5Z1	9907	broad.mit.edu	37	7	4824655	4824655	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:4824655C>T	ENST00000348624.4	+	7	1001	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	AP5Z1_ENST00000401897.1_Missense_Mutation_p.R303C	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	303					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										GTACTGCCAGCGCCTCATTGA	0.692000													15	25					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49669695	49669695	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:49669695G>A	ENST00000561648.1	-	4	3421	c.3368C>T	c.(3367-3369)cCc>cTc	p.P1123L	ZNF423_ENST00000562520.1_Missense_Mutation_p.P1063L|ZNF423_ENST00000262383.2_Missense_Mutation_p.P1123L|ZNF423_ENST00000567169.1_Missense_Mutation_p.P1006L|ZNF423_ENST00000563137.2_Missense_Mutation_p.P1063L|ZNF423_ENST00000535559.1_Missense_Mutation_p.P1006L|ZNF423_ENST00000562871.1_Missense_Mutation_p.P1063L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1123					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ACTGCACTCGGGGCAACGGAG	0.716000													29	71					0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102477342	102477342	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:102477342G>T	ENST00000260228.2	-	6	889	c.877C>A	c.(877-879)Cct>Act	p.P293T	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	293					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)		CAGAGGTCAGGGATGGATGGC	0.552000													16	47					2.23348e-06	2.3685e-06	1	1	0
GLTPD2	388323	broad.mit.edu	37	17	4692356	4692356	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:4692356C>G	ENST00000331264.7	+	1	103	c.50C>G	c.(49-51)tCa>tGa	p.S17*		NM_001014985.2	NP_001014985.2			glycolipid transfer protein domain containing 2									p.S17L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						TTCAGCCACTCAATTCCTCTC	0.662000													15	30					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114437899	114437899	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:114437899C>T	ENST00000369569.1	-	10	2288	c.2008G>A	c.(2008-2010)Gca>Aca	p.A670T	AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.A502T|AP4B1_ENST00000256658.4_Missense_Mutation_p.A670T	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	670					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTACTCATTGCGATGGTCTGG	0.502000													34	51					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153912155	153912155	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:153912155G>C	ENST00000361217.4	-	12	2147	c.1729C>G	c.(1729-1731)Ctg>Gtg	p.L577V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	577	dDENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCCTTGAGCAGACAGGCCATG	0.622000													57	124					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113301669	113301669	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:113301669G>A	ENST00000297405.5	-	57	9317	c.9073C>T	c.(9073-9075)Cgt>Tgt	p.R3025C	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2985C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2955C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2856C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3025	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAAGGGAACGCTTTCCTGTG	0.468000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	40					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	62					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79193748	79193748	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:79193748C>T	ENST00000269392.4	-	2	356	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	AZI1_ENST00000575907.1_Missense_Mutation_p.A37T|AZI1_ENST00000450824.2_Missense_Mutation_p.A37T|AZI1_ENST00000374782.3_Missense_Mutation_p.A37T	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	37					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTGGTGGTGGCGGCACTGCCA	0.682000													45	101					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71212388	71212388	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:71212388C>T	ENST00000418814.2	+	12	1537	c.923C>T	c.(922-924)gCg>gTg	p.A308V	FAM135A_ENST00000361499.3_Missense_Mutation_p.A308V|FAM135A_ENST00000505868.1_Missense_Mutation_p.A308V|FAM135A_ENST00000370479.3_Missense_Mutation_p.A291V|FAM135A_ENST00000505769.1_Missense_Mutation_p.A308V|FAM135A_ENST00000457062.2_Missense_Mutation_p.A291V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	308										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATGAATCTTGCGCAACTTTGC	0.333000													26	78					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196817840	196817840	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:196817840C>A	ENST00000346964.2	-	16	1892	c.1703G>T	c.(1702-1704)aGt>aTt	p.S568I	DLG1_ENST00000448528.2_Missense_Mutation_p.S568I|DLG1_ENST00000443183.1_Missense_Mutation_p.S452I|DLG1_ENST00000422288.1_Missense_Mutation_p.S517I|DLG1_ENST00000419354.1_Missense_Mutation_p.S568I|DLG1_ENST00000452595.1_Missense_Mutation_p.S452I|DLG1_ENST00000392382.2_Missense_Mutation_p.S535I|DLG1_ENST00000450955.1_Missense_Mutation_p.S535I|DLG1_ENST00000357674.4_Missense_Mutation_p.S535I|DLG1_ENST00000314062.3_Missense_Mutation_p.S517I	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	568					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGAACTAATACTACTATTCAT	0.318000													28	60					4.2108e-06	4.45764e-06	1	1	0
LRRC14	9684	broad.mit.edu	37	8	145745914	145745914	+	Missense_Mutation	SNP	C	C	T	rs148279627		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:145745914C>T	ENST00000292524.1	+	3	768	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	LRRC14_ENST00000529022.1_Missense_Mutation_p.R208C	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	208										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTGCCCATGCGCAACACTGT	0.682000													41	88					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443199	150443199	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:150443199A>G	ENST00000401000.4	+	10	1762	c.1697A>G	c.(1696-1698)tAt>tGt	p.Y566C	RPRD2_ENST00000539519.1_Missense_Mutation_p.Y566C|RPRD2_ENST00000369068.4_Missense_Mutation_p.Y592C|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	592	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGCTTCAACTATTCTCCTAAC	0.483000													13	28					0	0	1	0	0
SGSH	6448	broad.mit.edu	37	17	78184432	78184432	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:78184432C>T	ENST00000326317.6	-	8	1414	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q	SGSH_ENST00000534910.1_Missense_Mutation_p.R240Q	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	443					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTGGGGGTCCCGGCTCCGGTC	0.657000													14	34					0	0	1	0	0
TFPT	29844	broad.mit.edu	37	19	54611507	54611507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:54611507C>T	ENST00000391757.1	-	5	449	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391759.1_Silent_p.A156A|TFPT_ENST00000391758.1_Silent_p.A147A			P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	144					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	p.A156A(1)		large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					GCTCATTCTCCGCATTGCCTG	0.682000			T	TCF3	pre-B ALL								5	14					0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72832602	72832602	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:72832602G>T	ENST00000335464.5	+	10	1429	c.1267G>T	c.(1267-1269)Ggc>Tgc	p.G423C	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.G423C	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	423						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GTCCCTGGTGGGCATCACAGG	0.672000													23	63					1.10923e-09	1.21837e-09	1	1	0
COL6A5	256076	broad.mit.edu	37	3	130095261	130095261	+	Silent	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:130095261T>C	ENST00000265379.6	+	3	743	c.249T>C	c.(247-249)caT>caC	p.H83H	COL6A5_ENST00000432398.2_Silent_p.H83H			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	83	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTGAATTCCATCTGAGCACCT	0.498000													9	17					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32206079	32206079	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:32206079G>A	ENST00000373658.3	-	12	2199	c.1858C>T	c.(1858-1860)Cgc>Tgc	p.R620C	BAI2_ENST00000440175.2_Missense_Mutation_p.R262C|BAI2_ENST00000257070.4_Missense_Mutation_p.R620C|BAI2_ENST00000398538.1_Missense_Mutation_p.R608C|BAI2_ENST00000398547.1_Missense_Mutation_p.R553C|BAI2_ENST00000398556.3_Missense_Mutation_p.R568C|BAI2_ENST00000373655.2_Missense_Mutation_p.R620C|BAI2_ENST00000398542.1_Missense_Mutation_p.R553C|BAI2_ENST00000527361.1_Missense_Mutation_p.R620C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	620					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGCAGGCTGCGCACCACCTGC	0.607000													4	22					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100916256	100916256	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:100916256G>A	ENST00000393437.3	-	5	1829	c.1190C>T	c.(1189-1191)gCt>gTt	p.A397V	LONRF2_ENST00000409647.1_Missense_Mutation_p.A154V	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	397					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CTTTAAGCCAGCGCTGGGTGC	0.448000													23	55					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20874441	20874441	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:20874441T>C	ENST00000262715.5	-	3	726	c.686A>G	c.(685-687)gAc>gGc	p.D229G	TEP1_ENST00000556935.1_Missense_Mutation_p.D229G	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	229	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGATTCAGAGTCTCCAGAGGT	0.493000													29	62					0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10188573	10188573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:10188573C>T	ENST00000535335.1	+	3	1274	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	KLF11_ENST00000305883.1_Missense_Mutation_p.A370V|KLF11_ENST00000540845.1_Missense_Mutation_p.A353V	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	370					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TTGCCCCTTGCCCCTGCTCCA	0.587000											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	93					0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137228188	137228188	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:137228188C>T	ENST00000508638.1	+	3	208	c.153C>T	c.(151-153)aaC>aaT	p.N51N	PKD2L2_ENST00000290431.5_Silent_p.N51N|PKD2L2_ENST00000508883.1_Silent_p.N51N|PKD2L2_ENST00000502810.1_Silent_p.N51N|PKD2L2_ENST00000350250.4_Silent_p.N17N	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	51						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGATGGTAAACCCACATATGT	0.308000													11	32					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79364379	79364379	+	RNA	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:79364379C>G	ENST00000444841.1	-	0	255																											TCATGCTCTTCATTAAAGTAG	0.562000													20	25					0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70641656	70641656	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:70641656C>T	ENST00000370952.3	-	7	893	c.814G>A	c.(814-816)Gta>Ata	p.V272I		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	272								p.V272I(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TTTTCACCTACGTGCAATTCC	0.313000													22	39					0	0	1	0	0
RAB40B	10966	broad.mit.edu	37	17	80615805	80615805	+	Silent	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:80615805C>A	ENST00000571995.1	-	6	902	c.771G>T	c.(769-771)gtG>gtT	p.V257V	RAB40B_ENST00000538809.2_3'UTR|RAB40B_ENST00000269347.6_Silent_p.V78V	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	257					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GGACGAGCTTCACTTTGCGGA	0.572000													55	136					8.95456e-52	1.12897e-51	1	1	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605932	1605932	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:1605932C>G	ENST00000382171.2	-	1	581	c.548G>C	c.(547-549)tGc>tCc	p.C183S	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	183	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCCTTGCAGCCTCCACA	0.682000													4	63					0	0	1	0	0
CNIH3	149111	broad.mit.edu	37	1	224804897	224804897	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:224804897G>A	ENST00000272133.3	+	1	903	c.21G>A	c.(19-21)gcG>gcA	p.A7A		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	7					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CTTTCGCTGCGTTCTGCTACA	0.597000													133	304					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197065192	197065192	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:197065192G>T	ENST00000367409.4	-	19	9179	c.8923C>A	c.(8923-8925)Cta>Ata	p.L2975I	ASPM_ENST00000367408.1_Missense_Mutation_p.L640I|ASPM_ENST00000294732.7_Missense_Mutation_p.L1390I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2975	IQ 35.				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						AATATAGCTAGATATTCTTTG	0.353000													39	108					5.43694e-19	6.5585e-19	1	1	0
MYO18A	399687	broad.mit.edu	37	17	27422023	27422023	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:27422023C>A	ENST00000527372.1	-	29	4620	c.4440G>T	c.(4438-4440)caG>caT	p.Q1480H	MYO18A_ENST00000531253.1_Missense_Mutation_p.Q1480H|MYO18A_ENST00000354329.4_Missense_Mutation_p.Q1480H|MYO18A_ENST00000533112.1_Missense_Mutation_p.Q1480H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1480					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCTTCTCCCGCTGCAGCTTCT	0.632000													3	8					0.150653	0.150899	1	1	0
ACTN2	88	broad.mit.edu	37	1	236906324	236906324	+	Silent	SNP	G	G	A	rs143566058		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:236906324G>A	ENST00000366578.4	+	11	1402	c.1236G>A	c.(1234-1236)acG>acA	p.T412T	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Silent_p.T412T|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	412					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.T412T(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGGCCTCAACGCACGAGACTT	0.502000													20	52					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219540175	219540175	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:219540175G>A	ENST00000295709.3	+	5	692	c.413G>A	c.(412-414)gGc>gAc	p.G138D	STK36_ENST00000440309.1_Missense_Mutation_p.G138D|STK36_ENST00000392105.3_Missense_Mutation_p.G138D|STK36_ENST00000392106.2_Missense_Mutation_p.G138D	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	138	Protein kinase.				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)		AAGGGTGGTGGCATCAAGCTC	0.458000													29	76					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33612946	33612946	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:33612946A>G	ENST00000321505.4	+	11	4019	c.3839A>G	c.(3838-3840)aAa>aGa	p.K1280R	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.K1286R|KIAA1549L_ENST00000265654.5_Intron					KIAA1549-like																		AAGACCGCCAAATCCACTGAA	0.512000													25	60					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139620195	139620195	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:139620195C>T	ENST00000303045.6	-	57	4462	c.4016G>A	c.(4015-4017)gGc>gAc	p.G1339D	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1319D|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1339	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCTGAAGGGCCAGGCTCTCC	0.532000										HNSCC(7;0.00092)			14	43					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23866797	23866797	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:23866797G>A	ENST00000405093.3	-	16	1987	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G	MYH6_ENST00000356287.3_Silent_p.G639G	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	639	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTTTTTCTTGCCTCCTTTGC	0.562000													23	32					0	0	1	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086604	46086604	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:46086604G>T	ENST00000360770.3	-	1	240	c.200C>A	c.(199-201)cCc>cAc	p.P67H	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	67	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						GAAGCTCATGGGCACACACAC	0.627000													22	62					4.35082e-09	4.74494e-09	1	1	0
CEP104	9731	broad.mit.edu	37	1	3751648	3751648	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:3751648C>A	ENST00000378230.3	-	11	1650	c.1326G>T	c.(1324-1326)gaG>gaT	p.E442D	CEP104_ENST00000460038.1_5'UTR	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	442						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TACAATAGGCCTCAGCAACCT	0.418000													6	16					2.0095e-06	2.13466e-06	1	1	0
ADCY1	107	broad.mit.edu	37	7	45688285	45688285	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:45688285G>A	ENST00000297323.7	+	5	1059	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	ADCY1_ENST00000432715.1_Missense_Mutation_p.R121H	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	346					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|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CACTGTCGCCGCATCAAGATT	0.587000													21	45					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18276462	18276462	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:18276462G>A	ENST00000377369.2	+	7	1424	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E	SLC39A12_ENST00000377374.4_Missense_Mutation_p.G384E|SLC39A12_ENST00000539911.1_Missense_Mutation_p.G250E|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G384E	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	384					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCCATGCTGGGGACAGCGCTG	0.562000													31	22					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35804289	35804289	+	Missense_Mutation	SNP	C	C	T	rs73031735	by1000genomes	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:35804289C>T	ENST00000392213.3	+	11	1972	c.1813C>T	c.(1813-1815)Cgg>Tgg	p.R605W	MAG_ENST00000537831.2_Missense_Mutation_p.R580W|MAG_ENST00000361922.4_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	605					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTGGGGAAACGGCCCACCAA	0.632000													21	70					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67836150	67836150	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:67836150C>T	ENST00000255674.6	-	12	1916	c.1630G>A	c.(1630-1632)Gca>Aca	p.A544T	RTTN_ENST00000437017.1_Missense_Mutation_p.A544T|RTTN_ENST00000454359.1_Missense_Mutation_p.A544T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	544							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACGGCCTCTGCAGTTCGTTTA	0.353000													24	40					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115956325	115956325	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:115956325G>A	ENST00000238256.3	-	10	1106	c.989C>T	c.(988-990)tCa>tTa	p.S330L		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	330					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GAAAGGTATTGATGTGGGTGG	0.443000													23	55					0	0	1	0	0
SLC30A4	7782	broad.mit.edu	37	15	45783053	45783053	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:45783053G>T	ENST00000261867.4	-	4	879	c.565C>A	c.(565-567)Ctg>Atg	p.L189M	RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	189					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	p.L189L(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TACACCAACAGCACACTAATC	0.333000													19	28					4.35082e-09	4.74494e-09	1	1	0
ABCC12	94160	broad.mit.edu	37	16	48138103	48138103	+	Silent	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:48138103A>G	ENST00000311303.3	-	20	3195	c.2850T>C	c.(2848-2850)gcT>gcC	p.A950A	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Intron	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	950	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTAAAAGGACAGCAGGAAACA	0.483000													25	68					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791242	110791242	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:110791242A>G	ENST00000327908.3	+	4	1552	c.788A>G	c.(787-789)cAa>cGa	p.Q263R	LRIT3_ENST00000409621.2_Missense_Mutation_p.Q263R|LRIT3_ENST00000594814.1_Missense_Mutation_p.Q446R|LRIT3_ENST00000379920.3_Missense_Mutation_p.Q401R			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	401	Ig-like.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CAGCTCCACCAAGGTGGGAAA	0.463000													29	57					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165434	51165434	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:51165434C>T	ENST00000293441.1	-	23	6292	c.6274G>A	c.(6274-6276)Gct>Act	p.A2092T	SHANK1_ENST00000391814.1_Missense_Mutation_p.A2100T|SHANK1_ENST00000391813.1_Missense_Mutation_p.A1479T|SHANK1_ENST00000359082.3_Missense_Mutation_p.A2083T|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2092					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGAGGTTTAGCGCCAAACGGC	0.672000													21	56					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93074777	93074777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:93074777G>A	ENST00000396218.1	-	1	414	c.4C>T	c.(4-6)Cct>Tct	p.P2S	RUNX1T1_ENST00000436581.2_Intron|RUNX1T1_ENST00000523629.1_Intron|RUNX1T1_ENST00000360348.2_Intron|RUNX1T1_ENST00000265814.3_Intron|RUNX1T1_ENST00000520724.1_Intron|RUNX1T1_ENST00000522163.1_5'UTR|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P2S	NM_004349.3	NP_004340.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	0					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AACTCACCAGGCATCCTTGAA	0.488000													64	159					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13364886	13364886	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:13364886G>T	ENST00000254508.5	-	34	4773	c.4691C>A	c.(4690-4692)cCc>cAc	p.P1564H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1564					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)					GGTCTGGATGGGGTGGAGGTG	0.592000													59	75					7.75977e-34	9.72347e-34	1	1	0
THSD1	55901	broad.mit.edu	37	13	52971385	52971385	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:52971385G>A	ENST00000349258.4	-	3	1547	c.1003C>T	c.(1003-1005)Cta>Tta	p.L335L	THSD1_ENST00000258613.4_Silent_p.L335L|THSD1_ENST00000544466.1_Intron	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	335						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCTGAATTAGCATGCACTCC	0.303000													11	48					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621570	171621570	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:171621570C>A	ENST00000037502.5	-	1	241	c.182G>T	c.(181-183)tGc>tTc	p.C61F		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	61					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTGCTCTGGGCAGCTGGATTC	0.577000													25	48					7.87624e-14	8.98887e-14	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103040868	103040868	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:103040868T>C	ENST00000375735.2	+	33	5144	c.5000T>C	c.(4999-5001)cTg>cCg	p.L1667P	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L1667P|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1667	AAA 1 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TATACTCCACTGACAGACAAG	0.388000													3	30					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744051	140744051	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140744051C>A	ENST00000518069.1	+	1	154	c.154C>A	c.(154-156)Ctt>Att	p.L52I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCAAGGACCTTGGGCTGGA	0.652000													36	72					5.04308e-16	5.90926e-16	1	1	0
DAAM2	23500	broad.mit.edu	37	6	39832810	39832810	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:39832810G>A	ENST00000538976.1	+	5	570	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000274867.4_Missense_Mutation_p.V130M|DAAM2_ENST00000398904.2_Missense_Mutation_p.V130M	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	130	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GAACCAAGTCGTGGAAGACCT	0.557000											OREG0017416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	12					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100340390	100340390	+	RNA	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:100340390C>G	ENST00000341853.1	-	0	536					NR_003260.1																						GCCGACTCCTCCATGAGTGTC	0.582000													7	20					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179192463	179192463	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:179192463C>T	ENST00000292599.3	+	2	715	c.452C>T	c.(451-453)tCt>tTt	p.S151F	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	151					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGCCATCTCTTCCAATGGA	0.612000													20	52					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12343295	12343295	+	Silent	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:12343295A>G	ENST00000358136.3	+	21	5266	c.5136A>G	c.(5134-5136)tcA>tcG	p.S1712S	VPS13D_ENST00000356315.4_Silent_p.S1712S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1712					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTTGCCCCTCAGTGTCCAATG	0.463000													27	71					0	0	1	0	0
BAG1	573	broad.mit.edu	37	9	33264312	33264312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:33264312C>A	ENST00000472232.3	-	1	447	c.361G>T	c.(361-363)Gag>Tag	p.E121*	BAG1_ENST00000379704.2_Nonsense_Mutation_p.E6*	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314.5	Q99933	BAG1_HUMAN	BCL2-associated athanogene	121	7 X 6 AA tandem repeat of E-E-X(4).				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			CGGGTCACCTCCTGGCTCCGA	0.647000													16	45					7.81268e-19	9.40585e-19	1	1	0
LSAMP	4045	broad.mit.edu	37	3	115805312	115805312	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:115805312G>A	ENST00000490035.1	-	2	746	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	LSAMP_ENST00000539563.1_Missense_Mutation_p.R80W	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	83	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		AGCTCAACCCGTGGGTCCAGA	0.502000													24	62					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1957085	1957085	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:1957085C>T	ENST00000378585.4	+	4	461	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	126						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		ACACCTTCATCGTGAACGCCA	0.632000													35	93					0	0	1	0	0
SAAL1	113174	broad.mit.edu	37	11	18105248	18105248	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:18105248C>A	ENST00000524803.1	-	10	1122	c.1073G>T	c.(1072-1074)cGg>cTg	p.R358L	SAAL1_ENST00000529318.1_Missense_Mutation_p.R360L|SAAL1_ENST00000300013.4_Missense_Mutation_p.R357L			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	358					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						TTGTAAGACCCGAATGAGGCT	0.363000													14	23					0.0242445	0.0245646	1	1	0
CCM2L	140706	broad.mit.edu	37	20	30602845	30602845	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:30602845C>A	ENST00000300415.8	+	2	182	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	CCM2L_ENST00000262659.8_Missense_Mutation_p.L57M					cerebral cavernous malformation 2-like																		CCAGATTCTGCTGTGTGACTA	0.617000													44	76					3.4345e-17	4.07101e-17	1	1	0
AGBL1	123624	broad.mit.edu	37	15	87531236	87531236	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:87531236C>A	ENST00000441037.2	+	23	3197	c.3102C>A	c.(3100-3102)ttC>ttA	p.F1034L	RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000389298.3_Missense_Mutation_p.F765L|AGBL1_ENST00000421325.2_Missense_Mutation_p.F1034L	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1034					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						catccaatttcctgccaaagc	0.333000													56	107					2.91325e-39	3.66544e-39	1	1	0
PTCHD4	442213	broad.mit.edu	37	6	48035979	48035979	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:48035979A>G	ENST00000543600.1	-	1	401	c.362T>C	c.(361-363)gTg>gCg	p.V121A	PTCHD4_ENST00000339488.4_Missense_Mutation_p.V138A			Q6ZW05	CF138_HUMAN	patched domain containing 4	138						integral to membrane	hedgehog receptor activity										CATTTCCAGCACGGCTCGGTG	0.493000													45	98					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100459110	100459110	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:100459110C>T	ENST00000354161.3	+	11	1565	c.1440C>T	c.(1438-1440)ggC>ggT	p.G480G	SLC12A9_ENST00000415287.1_Silent_p.G391G|SLC12A9_ENST00000540482.1_Silent_p.G480G|SLC12A9_ENST00000428758.1_Silent_p.G480G|SLC12A9_ENST00000275729.3_Silent_p.G391G	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	480						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGGCTGGTGGCTCCCTGCTCC	0.652000													54	119					0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22707310	22707310	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:22707310G>A	ENST00000454584.2	+	3	547	c.242G>A	c.(241-243)aGc>aAc	p.S81N	GAS2_ENST00000278187.3_Missense_Mutation_p.S81N|GAS2_ENST00000433790.1_Missense_Mutation_p.S81N|GAS2_ENST00000533092.1_3'UTR	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	81	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTCAAGGAGAGCATGGATGCT	0.383000													17	43					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89788984	89788984	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:89788984G>A	ENST00000289816.5	+	2	338	c.26G>A	c.(25-27)gGg>gAg	p.G9E	ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000443381.2_Missense_Mutation_p.G84E|ZNF276_ENST00000568064.1_Missense_Mutation_p.G9E	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCTGCCACGGGAAGTTTTCC	0.647000													25	85					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103061768	103061768	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:103061768C>T	ENST00000264260.2	+	9	1629	c.1040C>T	c.(1039-1041)aCc>aTc	p.T347I	IL18RAP_ENST00000409369.1_Missense_Mutation_p.T205I	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	347	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGAAACACAACCCAGTCCGTC	0.453000													11	43					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563815	140563815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140563815G>A	ENST00000361016.2	+	1	2836	c.1681G>A	c.(1681-1683)Gtg>Atg	p.V561M		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		561	Cadherin 5.				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)			CTCGCCCTTCGTGCTGTACCC	0.716000													31	19					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29797592	29797592	+	Splice_Site	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:29797592G>T	ENST00000428701.1	+	6	1073		c.e6-1		HLA-G_ENST00000376815.3_Splice_Site|HLA-G_ENST00000360323.6_Splice_Site|HLA-G_ENST00000376818.3_Splice_Site|HLA-G_ENST00000376828.2_Splice_Site	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G						antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TCCTTTCCCAGAGCAGTCTTC	0.582000													25	75					7.76418e-22	9.47755e-22	1	1	0
MIER2	54531	broad.mit.edu	37	19	307340	307340	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:307340G>A	ENST00000264819.4	-	13	1405	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TTGGGCTGGCGTCTGGCTCCG	0.687000													8	14					0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69179981	69179981	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:69179981G>A	ENST00000344157.4	-	17	2355	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	YTHDC1_ENST00000579690.1_Missense_Mutation_p.R682W|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R656W	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	674	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CTACTTCTCCGGCCACTGACA	0.483000													17	26					0	0	1	0	0
SIX5	147912	broad.mit.edu	37	19	46271377	46271377	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:46271377G>A	ENST00000317578.6	-	1	1107	c.726C>T	c.(724-726)ctC>ctT	p.L242L	AC074212.6_ENST00000590076.1_RNA|SIX5_ENST00000560168.1_Intron|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN	SIX homeobox 5	242						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGACCTGCGTGAGCGACAGGC	0.731000													11	18					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13221024	13221024	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:13221024G>A	ENST00000592062.1	-	9	1537	c.967C>T	c.(967-969)Cgt>Tgt	p.R323C	TRMT1_ENST00000357720.4_Missense_Mutation_p.R323C|TRMT1_ENST00000437766.1_Missense_Mutation_p.R323C|TRMT1_ENST00000221504.8_Missense_Mutation_p.R323C			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	323							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		ACAAAAACACGCACGTAGAAG	0.632000													25	64					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29867972	29867972	+	Silent	SNP	C	C	T	rs36093913	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:29867972C>T	ENST00000399218.4	-	4	643	c.588G>A	c.(586-588)ccG>ccA	p.P196P	GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000269209.6_Silent_p.P196P|RP11-344B2.2_ENST00000579580.1_RNA	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		AAATGAGGCACGGCATTTTGC	0.453000													15	21					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308546	140308546	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140308546G>T	ENST00000253807.2	+	1	2069	c.2069G>T	c.(2068-2070)tGt>tTt	p.C690F	PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.C690F|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTGGCTTGTATTTCCTTT	0.483000													38	114					2.2871e-25	2.81983e-25	1	1	0
KIAA0586	9786	broad.mit.edu	37	14	58943858	58943858	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:58943858T>C	ENST00000423743.3	+	21	2969	c.2711T>C	c.(2710-2712)aTg>aCg	p.M904T	KIAA0586_ENST00000354386.6_Missense_Mutation_p.M1001T|KIAA0586_ENST00000261244.5_Missense_Mutation_p.M872T|KIAA0586_ENST00000556134.1_Missense_Mutation_p.M933T|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	872										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAAGAAATAATGTCAAGAATT	0.398000													2	1					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145739865	145739865	+	Silent	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:145739865C>A	ENST00000428558.2	-	10	1706	c.1665G>T	c.(1663-1665)tcG>tcT	p.S555S	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	555	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGGTCATGCCCGAGTGTATGC	0.667000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				11	35					9.31168e-06	9.79002e-06	1	1	0
RALGDS	5900	broad.mit.edu	37	9	135985867	135985867	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:135985867C>G	ENST00000393160.3	-	3	492	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	RALGDS_ENST00000542690.1_Missense_Mutation_p.E173Q|RALGDS_ENST00000393157.3_Missense_Mutation_p.E101Q|RALGDS_ENST00000372047.3_Missense_Mutation_p.E102Q|RALGDS_ENST00000372050.3_Missense_Mutation_p.E102Q|RALGDS_ENST00000372062.3_Missense_Mutation_p.E85Q	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	102					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGGGCCGACTCATTCTCATAC	0.602000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								14	39					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44121770	44121770	+	Splice_Site	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:44121770T>C	ENST00000260665.7	-	36	3958		c.e36-2			NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing						mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGTTGATGCCTAGGAAATTAC	0.274000													22	50					0	0	1	0	0
PRR21	643905	broad.mit.edu	37	2	240982232	240982232	+	Silent	SNP	G	G	T	rs71420284		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:240982232G>T	ENST00000408934.1	-	1	167	c.168C>A	c.(166-168)acC>acA	p.T56T		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	56	Pro-rich.									NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AAGGGCCGTGGGTGAAGAGCC	0.592000													13	12					9.31168e-06	9.79002e-06	1	1	0
KCNAB3	9196	broad.mit.edu	37	17	7831114	7831114	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:7831114G>T	ENST00000303790.2	-	2	272	c.273C>A	c.(271-273)tcC>tcA	p.S91S	RP11-1099M24.7_ENST00000573621.1_3'UTR	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	91						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				GGCCAAGACAGGATACCCGAA	0.527000													65	189					3.28615e-30	4.09269e-30	1	1	0
PDS5A	23244	broad.mit.edu	37	4	39929663	39929663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:39929663C>T	ENST00000303538.8	-	3	799	c.260G>A	c.(259-261)cGt>cAt	p.R87H	PDS5A_ENST00000503396.1_Missense_Mutation_p.R87H	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	87					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TACAAGGAGACGCACATCTTT	0.418000													8	30					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121196339	121196339	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:121196339G>A	ENST00000392870.2	+	9	1244	c.915G>A	c.(913-915)gaG>gaA	p.E305E	GRK5_ENST00000369108.3_Silent_p.E200E	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	305	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCCACCGTGAGAACACCGTCT	0.597000													19	30					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30664127	30664127	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:30664127C>T	ENST00000542965.2	+	3	734	c.278C>T	c.(277-279)tCg>tTg	p.S93L	PRR14_ENST00000300835.4_Missense_Mutation_p.S93L			Q9BWN1	PRR14_HUMAN	proline rich 14	93	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCGCCTGCCTCGCCACCCCGG	0.632000													27	37					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13057631	13057631	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:13057631G>C	ENST00000506447.1	+	20	4236	c.4156G>C	c.(4156-4158)Gtc>Ctc	p.V1386L	CEP192_ENST00000325971.8_Missense_Mutation_p.V790L|CEP192_ENST00000430049.2_Missense_Mutation_p.V911L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	981										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGCTTGCTGTGTCGGGATCGC	0.512000													17	44					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147600793	147600793	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:147600793C>T	ENST00000361727.3	+	14	2751	c.2235C>T	c.(2233-2235)tgC>tgT	p.C745C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	745	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.C745C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTGTAACTGCGACGCGGACT	0.542000										HNSCC(39;0.1)			7	9					0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74685845	74685845	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:74685845C>G	ENST00000361070.4	-	3	791	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	RFWD3_ENST00000571750.1_Missense_Mutation_p.E232Q	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	232					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CCAGATTCCTCTGCCTGGTCA	0.448000													31	124					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184787912	184787912	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:184787912G>T	ENST00000367511.3	-	9	1226	c.1033C>A	c.(1033-1035)Cca>Aca	p.P345T	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	345					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCCAGGAATGGCTGCACACTC	0.522000													28	222					7.68411e-24	9.3985e-24	1	1	0
DOK3	79930	broad.mit.edu	37	5	176936826	176936826	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:176936826C>T	ENST00000357198.4	-	1	32	c.28G>A	c.(28-30)Gac>Aac	p.D10N	DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000501403.2_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	10						cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCACGCGCGTCTGATCGCAGT	0.711000													11	45					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50226346	50226346	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:50226346G>C	ENST00000284509.6	-	15	1462	c.1321C>G	c.(1321-1323)Caa>Gaa	p.Q441E	ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q441E	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	441					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTATCCGCTTGAGATTTGACT	0.358000													15	35					0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160160588	160160588	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:160160588G>A	ENST00000368079.3	+	1	304	c.29G>A	c.(28-30)cGg>cAg	p.R10Q	CASQ1_ENST00000368078.3_Missense_Mutation_p.R16Q	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	16						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCGGGTCTGCGGCTGGCACTG	0.617000													7	56					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123982862	123982862	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:123982862G>T	ENST00000306315.5	-	4	3650	c.3215C>A	c.(3214-3216)cCt>cAt	p.P1072H	ZNF608_ENST00000504926.1_Missense_Mutation_p.P645H	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1072						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGCCAGGGCAGGATGTCTTTG	0.478000													20	36					1.55795e-14	1.788e-14	1	1	0
CNOT11	55571	broad.mit.edu	37	2	101874386	101874386	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:101874386G>T	ENST00000289382.3	+	2	811	c.648G>T	c.(646-648)gtG>gtT	p.V216V		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		GCCAGTCTGTGGACATTAGTG	0.502000													38	69					1.96642e-18	2.34899e-18	1	1	0
EIF4A3	9775	broad.mit.edu	37	17	78115168	78115168	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:78115168G>C	ENST00000269349.3	-	4	543	c.322C>G	c.(322-324)Caa>Gaa	p.Q108E		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	108	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			ATCAAAGCTTGAGTTTCACGA	0.398000													26	70					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033787	110033787	+	Silent	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:110033787A>G	ENST00000369870.3	+	10	1617	c.1602A>G	c.(1600-1602)tcA>tcG	p.S534S	ATXN7L2_ENST00000459635.1_3'UTR	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	534										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTATCACCTCACCACTGCCTG	0.657000											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	31					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27876869	27876869	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:27876869delT	ENST00000374011.2	-	6	2726	c.1758delA	c.(1756-1758)aafs	p.K586fs	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Frame_Shift_Del_p.K586fs	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	586							DNA binding	p.K586fs*37(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCCGCCGTCGTTTTTTTACCT	0.647													38	111	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42047845	42047845	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:42047845delG	ENST00000372584.1	-	3	3638	c.2624delC	c.(2623-2625)ctfs	p.P875fs	HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.P875fs|HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.P875fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.P875fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	875	Acidic 2.|Glu/Pro-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGTTCCTTAGGGGGCGGCTC	0.592													7	175	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42048868	42048868	+	Frame_Shift_Del	DEL	G	G	-	rs151333512		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:42048868delG	ENST00000372584.1	-	3	2615	c.1601delC	c.(1600-1602)ctfs	p.P534fs	HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.P534fs|HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.P534fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.P534fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	534	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAGAGGCACAGGGGGGGCGGT	0.597													38	97	---	---	---	---					
RP5-947P14.1	0	broad.mit.edu	37	1	106623654	106623654	+	RNA	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:106623654delC	ENST00000437803.1	+	0	165																											CCGTGTAGGGCCCCCCGCTAG	0.657													6	7	---	---	---	---					
PRPF38B	55119	broad.mit.edu	37	1	109235395	109235396	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:109235395_109235396delTG	ENST00000370025.4	+	1	451_452	c.182_183delTG	c.(181-183)afs	p.M61fs	PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Frame_Shift_Del_p.M61fs|PRPF38B_ENST00000370021.1_5'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	61					mRNA processing|RNA splicing	spliceosomal complex		p.M61I(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		CTCAACCCCATGATCCTGACCA	0.584													35	103	---	---	---	---					
SLC16A4	9122	broad.mit.edu	37	1	110906426	110906427	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:110906426_110906427insA	ENST00000369779.4	-	9	1674_1675	c.1425_1426insT	c.(1423-1428)tttaccfs	p.T476fs	SLC16A4_ENST00000472422.2_Frame_Shift_Ins_p.T428fs|SLC16A4_ENST00000437429.2_Frame_Shift_Ins_p.L372fs|SLC16A4_ENST00000369781.4_Frame_Shift_Ins_p.T308fs|SLC16A4_ENST00000541986.1_Frame_Shift_Ins_p.T414fs	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	476						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.F475fs*12(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GCCAATGGTACAAAAAAAAAGG	0.391													12	65	---	---	---	---					
DUSP27	92235	broad.mit.edu	37	1	167096818	167096818	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:167096818delG	ENST00000361200.2	+	6	2616	c.2450delG	c.(2449-2451)agfs	p.R817fs	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Frame_Shift_Del_p.R817fs|DUSP27_ENST00000443333.1_Frame_Shift_Del_p.R817fs			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	817					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCAAAGTGAGGGGGACCAGC	0.552													18	74	---	---	---	---					
SMG7	9887	broad.mit.edu	37	1	183518987	183518987	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:183518987delC	ENST00000367537.3	+	21	3206	c.3011delC	c.(3010-3012)gcfs	p.A1004fs	SMG7_ENST00000515829.2_Frame_Shift_Del_p.A925fs|SMG7_ENST00000347615.2_Frame_Shift_Del_p.A971fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.A979fs|SMG7_ENST00000456731.2_Frame_Shift_Del_p.A883fs|SMG7_ENST00000507469.1_Frame_Shift_Del_p.A975fs			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	971	Ser-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCCTCAATGGCCCCCCAGGAA	0.428													26	72	---	---	---	---					
C1orf106	55765	broad.mit.edu	37	1	200881099	200881099	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:200881099delG	ENST00000367342.4	+	9	1933	c.1733delG	c.(1732-1734)cgfs	p.R578fs	C1orf106_ENST00000413687.2_Frame_Shift_Del_p.R493fs|C1orf106_ENST00000465162.1_3'UTR	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	578										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCGGCAGGCCGGGGGCTCAGC	0.716													2	4	---	---	---	---					
KCTD3	51133	broad.mit.edu	37	1	215793922	215793922	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:215793922delA	ENST00000259154.4	+	18	2704	c.2410delA	c.(2410-2412)aafs	p.K805fs	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	805						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TCCTCGGCATAAAAAAAGTGA	0.418													32	60	---	---	---	---					
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)cafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308													7	76	---	---	---	---					
EMILIN1	11117	broad.mit.edu	37	2	27302057	27302057	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:27302057delG	ENST00000380320.4	+	1	623	c.124delG	c.(124-126)ggfs	p.G43fs		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	43					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCAGCCCCGGGGGGCCCCA	0.682													12	28	---	---	---	---					
NLRC4	58484	broad.mit.edu	37	2	32449824	32449824	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:32449824delA	ENST00000404025.2	-	10	3281	c.2793delT	c.(2791-2793)ttfs	p.F931fs	NLRC4_ENST00000402280.1_Frame_Shift_Del_p.F931fs|NLRC4_ENST00000342905.6_Frame_Shift_Del_p.F266fs|NLRC4_ENST00000360906.5_Frame_Shift_Del_p.F931fs			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	931					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGTTCTTTCCAAAAAATGCAC	0.328													29	63	---	---	---	---					
NIFK-AS1	254128	broad.mit.edu	37	2	122466727	122466727	+	RNA	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:122466727delT	ENST00000419902.1	+	0	637					NR_037857.1																						TCACACCAGGtttttttttgt	0.468													7	9	---	---	---	---					
AOX1	316	broad.mit.edu	37	2	201477409	201477410	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:201477409_201477410insT	ENST00000374700.2	+	14	1582_1583	c.1341_1342insT	c.(1339-1344)gtttttfs	p.VF447fs	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	447					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.F448fs*10(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAATGAGAGTCTTTTTTGGAGA	0.470													37	81	---	---	---	---					
CCDC108	255101	broad.mit.edu	37	2	219875636	219875636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:219875636delT	ENST00000341552.5	-	25	4123	c.4040delA	c.(4039-4041)atfs	p.N1347fs	CCDC108_ENST00000441968.1_Frame_Shift_Del_p.N1347fs|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.N1347fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1347						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGATCAAAATTTTTTTCCTG	0.522													21	31	---	---	---	---					
GLB1L	79411	broad.mit.edu	37	2	220103853	220103853	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:220103853delG	ENST00000295759.7	-	11	1336	c.1023delC	c.(1021-1023)ccfs	p.P341fs	GLB1L_ENST00000356283.3_Frame_Shift_Del_p.P251fs|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Frame_Shift_Del_p.P341fs|GLB1L_ENST00000409640.1_Frame_Shift_Del_p.P251fs			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	341					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTTAGGTGTGGGGTCCCCTG	0.453													26	63	---	---	---	---					
ACSL3	2181	broad.mit.edu	37	2	223793637	223793638	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:223793637_223793638insA	ENST00000357430.3	+	13	2054_2055	c.1523_1524insA	c.(1522-1524)taafs	p.*508fs	ACSL3_ENST00000392066.3_Frame_Shift_Ins_p.*508fs	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	508					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GAAATCAAATTAAAAAACTGGG	0.322			T	ETV1	prostate								23	60	---	---	---	---					
HDAC4	9759	broad.mit.edu	37	2	240009285	240009285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:240009285delG	ENST00000345617.3	-	19	3190	c.2399delC	c.(2398-2400)ctfs	p.P800fs	HDAC4_ENST00000543185.1_Frame_Shift_Del_p.P384fs	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	800	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ATGGTGTCCAGGGGGGCGGAC	0.607													9	32	---	---	---	---					
PDCD1	5133	broad.mit.edu	37	2	242793362	242793363	+	Frame_Shift_Ins	INS	-	-	G	rs137861407	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:242793362_242793363insG	ENST00000334409.5	-	5	783_784	c.714_715insC	c.(712-717)cctgccfs	p.A239fs		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	239					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		ACACAGGGCACGGGGGGCTCCG	0.629													19	69	---	---	---	---					
SCN5A	6331	broad.mit.edu	37	3	38622626	38622626	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:38622626delG	ENST00000413689.1	-	17	3217	c.3024delC	c.(3022-3024)ccfs	p.P1008fs	SCN5A_ENST00000443581.1_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000333535.4_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000449557.2_Frame_Shift_Del_p.P1008fs	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1008					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCGGGGAGTAGGGGGTGGCAA	0.687													12	7	---	---	---	---					
PVRL3	25945	broad.mit.edu	37	3	110852821	110852822	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:110852821_110852822insA	ENST00000485303.1	+	6	1684_1685	c.1409_1410insA	c.(1408-1410)gaafs	p.E470fs	PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	470					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						CCAGACAGTGTAAAAAAAGAAA	0.337													16	21	---	---	---	---					
COL6A6	131873	broad.mit.edu	37	3	130318621	130318621	+	Frame_Shift_Del	DEL	C	C	-	rs112135798		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:130318621delC	ENST00000358511.6	+	19	4651	c.4620delC	c.(4618-4620)ggfs	p.G1540fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.G1540fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1540	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCTGGCCAGGCCCCCCCGGGA	0.498													19	53	---	---	---	---					
BCL6	604	broad.mit.edu	37	3	187447317	187447317	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:187447317delG	ENST00000406870.2	-	5	1242	c.876delC	c.(874-876)ccfs	p.P292fs	BCL6_ENST00000232014.4_Frame_Shift_Del_p.P292fs|BCL6_ENST00000450123.2_Frame_Shift_Del_p.P292fs|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	292					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AAGGGAAGTAGGGGGCATTTC	0.557			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								47	131	---	---	---	---					
ATP13A3	79572	broad.mit.edu	37	3	194140669	194140669	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:194140669delA	ENST00000439040.1	-	31	4132	c.3341delT	c.(3340-3342)tafs	p.L1114fs	ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.L1114fs			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1114					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		aaaaatatataaaaaaatCAC	0.299													15	39	---	---	---	---					
GABRG1	2565	broad.mit.edu	37	4	46060624	46060624	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:46060624delT	ENST00000295452.4	-	6	808	c.641delA	c.(640-642)atfs	p.N214fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	214					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTCAATTTCATTTTTAGGGTA	0.353													14	18	---	---	---	---					
NPFFR2	10886	broad.mit.edu	37	4	73013438	73013438	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:73013438delA	ENST00000308744.6	+	4	1576	c.1478delA	c.(1477-1479)gafs	p.E493fs	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Frame_Shift_Del_p.E394fs|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Frame_Shift_Del_p.E391fs	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	493					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CCTCATGGGGAAACCTTGCTT	0.378													37	78	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96171725	96171725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:96171725delG	ENST00000453304.1	-	5	1036	c.688delC	c.(688-690)gafs	p.R230fs	UNC5C_ENST00000504962.1_Frame_Shift_Del_p.R230fs|UNC5C_ENST00000506749.1_Frame_Shift_Del_p.R230fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	230	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCAGAGAGTCGGGCCTGCTTT	0.398													52	166	---	---	---	---					
ABCE1	6059	broad.mit.edu	37	4	146041093	146041093	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:146041093delT	ENST00000296577.4	+	11	1447	c.932delT	c.(931-933)atfs	p.I311fs	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	311	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GGCATAAACATTTTTTTGGAT	0.358													13	31	---	---	---	---					
PDGFC	56034	broad.mit.edu	37	4	157694008	157694008	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:157694008delG	ENST00000502773.1	-	4	1023	c.533delC	c.(532-534)ctfs	p.P178fs	PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000542208.1_Frame_Shift_Del_p.P23fs|PDGFC_ENST00000541126.1_Frame_Shift_Del_p.P15fs|PDGFC_ENST00000422544.2_Frame_Shift_Del_p.P178fs	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	178					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CAAAGCTGAAGGGGGTAGCAC	0.413													31	72	---	---	---	---					
FAM198B	51313	broad.mit.edu	37	4	159091486	159091487	+	In_Frame_Ins	INS	-	-	GCT			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:159091486_159091487insGCT	ENST00000393807.5	-	3	1329_1330	c.923_924insAGC	c.(922-924)gtg>gAGCtg	p.308_308V>EL	FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000296530.8_Intron	NM_001031700.2	NP_001026870.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	308						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGGAAAGACACGCTGCTGCTGC	0.455													10	31	---	---	---	---					
F11-AS1	285441	broad.mit.edu	37	4	187250454	187250454	+	RNA	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:187250454delC	ENST00000505103.1	-	0	153					NR_033900.1																						TCTTGTCACACCCCCCGGGAA	0.507													13	25	---	---	---	---					
LOC285696	285696	broad.mit.edu	37	5	17202758	17202758	+	RNA	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:17202758delT	ENST00000399760.2	-	0	971					NR_027253.1																						tattttttaattttttttttg	0.488													7	24	---	---	---	---					
RASA1	5921	broad.mit.edu	37	5	86564680	86564680	+	Frame_Shift_Del	DEL	C	C	-	rs145963639		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:86564680delC	ENST00000274376.6	+	1	976	c.412delC	c.(412-414)ccfs	p.P141fs		NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	141	Poly-Pro.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TCCCCCTCTGCCCCCTCCCCC	0.622													14	21	---	---	---	---					
PCDHA5	56143	broad.mit.edu	37	5	140202219	140202219	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140202219delG	ENST00000529859.1	+	1	859	c.859delG	c.(859-861)atfs	p.D287fs	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Frame_Shift_Del_p.D287fs|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Frame_Shift_Del_p.D287fs|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTTGACGATGTAAAGTC	0.318													9	37	---	---	---	---					
PCDHB13	56123	broad.mit.edu	37	5	140594607	140594607	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140594607delA	ENST00000341948.4	+	1	1099	c.912delA	c.(910-912)ctfs	p.L304fs		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		304	Cadherin 3.				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)			AAATTGAACTAAAAAAACAAC	0.388													46	101	---	---	---	---					
ADRA1B	147	broad.mit.edu	37	5	159398909	159398909	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:159398909delC	ENST00000306675.3	+	2	1096	c.973delC	c.(973-975)ccfs	p.P326fs		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	326					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	p.D327fs*134(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CACCCTGAAGCCCCCCGACGC	0.587													35	67	---	---	---	---					
F13A1	2162	broad.mit.edu	37	6	6197471	6197471	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:6197471delG	ENST00000264870.3	-	9	1466	c.1201delC	c.(1201-1203)agfs	p.Q401fs		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	401					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.Q401fs*4(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTATTTTCCTGGGGGGTGCTG	0.478													29	47	---	---	---	---					
SLC17A1	6568	broad.mit.edu	37	6	25801139	25801140	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:25801139_25801140insA	ENST00000244527.4	-	11	1362_1363	c.1247_1248insT	c.(1246-1248)tacfs	p.Y416fs	SLC17A1_ENST00000468082.1_Frame_Shift_Ins_p.Y362fs|SLC17A1_ENST00000476801.1_Frame_Shift_Ins_p.Y416fs|SLC17A1_ENST00000427328.1_Frame_Shift_Ins_p.Y362fs	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	416					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TCAATCCAGTCAAAGTGGAAGC	0.292													15	40	---	---	---	---					
POU3F2	5454	broad.mit.edu	37	6	99283622	99283622	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:99283622delG	ENST00000328345.5	+	1	1043	c.873delG	c.(871-873)gtfs	p.V291fs		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	291	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		AAGCGGACGTGGGGCTGGCTC	0.602													148	415	---	---	---	---					
ROS1	6098	broad.mit.edu	37	6	117681120	117681120	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:117681120delA	ENST00000368508.3	-	23	3698	c.3500delT	c.(3499-3501)tafs	p.L1167fs	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Frame_Shift_Del_p.L1162fs	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1167					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCCATATCTAAAAAAACTAT	0.353			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								21	56	---	---	---	---					
RAC1	5879	broad.mit.edu	37	7	6438326	6438327	+	Frame_Shift_Ins	INS	-	-	G	rs143643351		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:6438326_6438327insG	ENST00000356142.4	+	4	456_457	c.259_260insG	c.(259-261)gggfs	p.G87fs	RAC1_ENST00000348035.4_Intron|RAC1_ENST00000488373.1_Intron	NM_018890.3	NP_061485.1	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	75					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TATAACCTCCCGGGGCAAAGAC	0.396													7	28	---	---	---	---					
MACC1	346389	broad.mit.edu	37	7	20198752	20198752	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:20198752delT	ENST00000400331.5	-	5	1540	c.1232delA	c.(1231-1233)acfs	p.N411fs	MACC1_ENST00000332878.4_Frame_Shift_Del_p.N411fs|MACC1_ENST00000589011.1_Frame_Shift_Del_p.N411fs	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	411					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGGAGATATGTTTTTTCCACC	0.348													10	39	---	---	---	---					
DPY19L2P1	554236	broad.mit.edu	37	7	35131562	35131562	+	RNA	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:35131562delA	ENST00000436258.1	-	0	1811																											ACAGCATCTGAAAAAAAAGGA	0.368													8	32	---	---	---	---					
ZNF804B	219578	broad.mit.edu	37	7	88962805	88962806	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:88962805_88962806insA	ENST00000333190.4	+	4	1118_1119	c.509_510insA	c.(508-510)gaafs	p.E170fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	170						intracellular	zinc ion binding	p.G170E(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTCCTTAAAGGAAAAAATCTCC	0.446										HNSCC(36;0.09)			19	55	---	---	---	---					
CLDN15	24146	broad.mit.edu	37	7	100880799	100880799	+	Frame_Shift_Del	DEL	C	C	-	rs144226303		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:100880799delC	ENST00000401528.1	-	2	1189	c.64delG	c.(64-66)tgfs	p.V22fs	CLDN15_ENST00000433422.1_5'UTR|CLDN15_ENST00000308344.5_Frame_Shift_Del_p.V22fs	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	22					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					GGCAGAGTCACCCCCAGCATC	0.587													24	40	---	---	---	---					
KMT2E	55904	broad.mit.edu	37	7	104752943	104752944	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:104752943_104752944delTG	ENST00000334877.4	+	26	5148_5149	c.4614_4615delTG	c.(4612-4617)actgfs	p.TV1538fs	KMT2E_ENST00000311117.3_Frame_Shift_Del_p.TV1580fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.TV1580fs|SRPK2_ENST00000493638.1_Intron					lysine (K)-specific methyltransferase 2E																		CTCAACAAACTGTGTTTACATC	0.465													41	94	---	---	---	---					
DGKI	9162	broad.mit.edu	37	7	137128838	137128838	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:137128838delA	ENST00000453654.1	-	28	2316	c.1777delT	c.(1777-1779)ctfs	p.S594fs	DGKI_ENST00000288490.5_Frame_Shift_Del_p.S925fs|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Frame_Shift_Del_p.S907fs|DGKI_ENST00000424189.2_Frame_Shift_Del_p.S938fs			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	925					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCTTCTGAAGAGACTGGTGAC	0.294													4	8	---	---	---	---					
NOS3	4846	broad.mit.edu	37	7	150698398	150698398	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:150698398delG	ENST00000297494.3	+	11	1670	c.1313delG	c.(1312-1314)agfs	p.R438fs	NOS3_ENST00000467517.1_Frame_Shift_Del_p.R438fs|NOS3_ENST00000484524.1_Frame_Shift_Del_p.R438fs|NOS3_ENST00000461406.1_Frame_Shift_Del_p.R232fs	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	438	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CAGAAGGCCAGGGGGGGCTGC	0.617													43	47	---	---	---	---					
MTUS1	57509	broad.mit.edu	37	8	17513519	17513522	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:17513519_17513522delTGTT	ENST00000381869.3	-	8	3269_3272	c.2796_2799delAACA	c.(2794-2799)cafs	p.QT932fs	MTUS1_ENST00000400046.1_Frame_Shift_Del_p.QT58fs|MTUS1_ENST00000544260.1_Frame_Shift_Del_p.QT131fs|MTUS1_ENST00000262102.6_Frame_Shift_Del_p.QT986fs|MTUS1_ENST00000519263.1_Frame_Shift_Del_p.QT932fs|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000297488.6_Frame_Shift_Del_p.QT152fs|MTUS1_ENST00000381861.3_Frame_Shift_Del_p.QT233fs	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	986						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTTCATACACTGTTTGTAACTCAT	0.422													35	64	---	---	---	---					
RIPK2	8767	broad.mit.edu	37	8	90782147	90782148	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:90782147_90782148insAT	ENST00000220751.4	+	4	945_946	c.631_632insAT	c.(631-633)tatfs	p.Y211fs	RIPK2_ENST00000540020.1_Frame_Shift_Ins_p.Y74fs	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	211	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TATCAAGCACGATATATATAGG	0.381													27	136	---	---	---	---					
CNTLN	54875	broad.mit.edu	37	9	17135271	17135271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:17135271delG	ENST00000380647.3	+	1	292	c.208delG	c.(208-210)ggfs	p.G71fs	CNTLN_ENST00000380641.4_Frame_Shift_Del_p.G71fs|CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000425824.1_Frame_Shift_Del_p.G71fs|CNTLN_ENST00000262360.5_Frame_Shift_Del_p.G71fs			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	71						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GCGAGGGCCTGGGGGGGCAGC	0.687													10	17	---	---	---	---					
OR13C4	138804	broad.mit.edu	37	9	107288624	107288624	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:107288624delG	ENST00000277216.3	-	1	866	c.867delC	c.(865-867)ccfs	p.P289fs		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGTTTAACATGGGGGTCACAA	0.403													20	34	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139399552	139399552	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:139399552delG	ENST00000277541.6	-	26	4666	c.4591delC	c.(4591-4593)tgfs	p.L1531fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1531					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGTCGTACAGGGGGCTGTGG	0.726			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			12	36	---	---	---	---					
C1QL3	389941	broad.mit.edu	37	10	16562928	16562928	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:16562928delG	ENST00000298943.3	-	1	1076	c.137delC	c.(136-138)agfs	p.T46fs		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	46						collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCGGTCGGGCGTGGCAGCGGT	0.751													11	5	---	---	---	---					
MYO3A	53904	broad.mit.edu	37	10	26462760	26462760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:26462760delA	ENST00000265944.5	+	30	3733	c.3567delA	c.(3565-3567)ccfs	p.P1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.M1192fs*1(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAGACTCCAAAAAAAATGA	0.403													14	34	---	---	---	---					
ANKRD26	22852	broad.mit.edu	37	10	27337806	27337808	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:27337806_27337808delCAT	ENST00000376087.4	-	17	1901_1903	c.1736_1738delATG	c.(1735-1740)gga>g	p.DG579del	ANKRD26_ENST00000436985.2_In_Frame_Del_p.DG595del|ANKRD26_ENST00000376070.3_In_Frame_Del_p.DG136del	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	579	Poly-Asp.					centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGAATTAATCcatcatcatcatc	0.345													8	18	---	---	---	---					
CTNNA3	29119	broad.mit.edu	37	10	68940199	68940199	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:68940199delA	ENST00000433211.1	-	7	1097	c.923delT	c.(922-924)acfs	p.I308fs	CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Frame_Shift_Del_p.I308fs|CTNNA3_ENST00000545309.1_Frame_Shift_Del_p.I308fs	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	308					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGCCCCACTGATAATGGCTTC	0.473													27	57	---	---	---	---					
TALDO1	6888	broad.mit.edu	37	11	764345	764347	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:764345_764347delACA	ENST00000319006.3	+	7	1046_1048	c.893_895delACA	c.(892-897)cac>c	p.HN298del	TALDO1_ENST00000528097.1_In_Frame_Del_p.T298del			P37837	TALDO_HUMAN	transaldolase 1	298					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CGTTGGTTGCACAACGAGGACCA	0.557													23	64	---	---	---	---					
NR1H3	10062	broad.mit.edu	37	11	47282886	47282887	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:47282886_47282887insC	ENST00000467728.1	+	4	1832_1833	c.594_595insC	c.(592-597)tcccccfs	p.SP198fs	NR1H3_ENST00000405853.3_Frame_Shift_Ins_p.SP198fs|NR1H3_ENST00000527949.1_Frame_Shift_Ins_p.SP107fs|NR1H3_ENST00000395397.3_Frame_Shift_Ins_p.SP153fs|NR1H3_ENST00000405576.1_Frame_Shift_Ins_p.SP153fs|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Frame_Shift_Ins_p.SP198fs|NR1H3_ENST00000481889.2_Frame_Shift_Ins_p.SP153fs|NR1H3_ENST00000407404.1_Frame_Shift_Ins_p.SP198fs			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	198					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGGCTTCCTCACCCCCCCAAAT	0.594													11	52	---	---	---	---					
FADS2	9415	broad.mit.edu	37	11	61596024	61596024	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:61596024delG	ENST00000278840.4	+	1	792	c.162delG	c.(160-162)ccfs	p.P54fs	FADS2_ENST00000257261.6_Intron|FADS2_ENST00000522056.1_Intron|FADS2_ENST00000521849.1_Frame_Shift_Del_p.P54fs	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	54	Cytochrome b5 heme-binding.				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	p.Q57fs*22(1)		breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TCCAGCACCCGGGGGGCCAGC	0.607											OREG0021015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	70	---	---	---	---					
MRPL21	219927	broad.mit.edu	37	11	68664141	68664141	+	Frame_Shift_Del	DEL	C	C	-	rs140815939	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:68664141delC	ENST00000362034.2	-	4	247	c.238delG	c.(238-240)tgfs	p.V80fs	MRPL21_ENST00000450904.2_5'UTR|MRPL21_ENST00000567045.1_5'UTR	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	80					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACCTTCTTCACGACCTCTGCA	0.627													27	99	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89403521	89403522	+	RNA	INS	-	-	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:89403521_89403522insT	ENST00000532352.1	+	0	908							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTTTTGTTTTGTTTTTTTTCAA	0.332													10	19	---	---	---	---					
LOC643733	643733	broad.mit.edu	37	11	104774281	104774282	+	RNA	INS	-	-	A	rs34300286		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:104774281_104774282insA	ENST00000532510.1	-	0	3258																											TGCTGAACCTGAAAAAGAAAGT	0.436													11	12	---	---	---	---					
HYLS1	219844	broad.mit.edu	37	11	125770093	125770093	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:125770093delG	ENST00000425380.2	+	3	1611	c.830delG	c.(829-831)tgfs	p.W277fs	HYLS1_ENST00000356438.3_Frame_Shift_Del_p.W277fs|HYLS1_ENST00000526028.1_Frame_Shift_Del_p.W277fs|PUS3_ENST00000227474.3_Intron	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	277						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GCACTCCGTTGGGGTGTTCGT	0.428													13	47	---	---	---	---					
SRPR	6734	broad.mit.edu	37	11	126137087	126137087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:126137087delT	ENST00000332118.6	-	4	663	c.509delA	c.(508-510)agfs	p.K170fs	SRPR_ENST00000532259.1_Frame_Shift_Del_p.K142fs	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	170					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	p.K170fs*33(2)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTTGGCCCCCTTTTTTTTGCT	0.438													14	357	---	---	---	---					
DCP1B	196513	broad.mit.edu	37	12	2064701	2064701	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:2064701delT	ENST00000280665.6	-	6	627	c.548delA	c.(547-549)agfs	p.K183fs	DCP1B_ENST00000397173.4_Frame_Shift_Del_p.K81fs|DCP1B_ENST00000540622.1_Frame_Shift_Del_p.K57fs|DCP1B_ENST00000541700.1_Intron	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	183					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ACTGGTTATCTTTTTTGGCTC	0.378													43	110	---	---	---	---					
ATN1	1822	broad.mit.edu	37	12	7047140	7047141	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:7047140_7047141delGC	ENST00000356654.4	+	6	2664_2665	c.2427_2428delGC	c.(2425-2430)cagcfs	p.QR809fs	ATN1_ENST00000396684.2_Frame_Shift_Del_p.QR809fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	809	Ala/Arg-rich.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						AGGCCGAGCAGCGCGCGCGCGA	0.693											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49431874	49431874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:49431874delC	ENST00000301067.7	-	34	9264	c.9265delG	c.(9265-9267)tgfs	p.V3089fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.V2819fs*9(1)|p.V3089fs*9(1)									CCTGGCTCCACCCCCCGCAGC	0.622													19	19	---	---	---	---					
EIF4B	1975	broad.mit.edu	37	12	53400274	53400275	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:53400274_53400275insC	ENST00000262056.9	+	1	333_334	c.7_8insC	c.(7-9)ctcfs	p.L3fs	EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Frame_Shift_Ins_p.L3fs|EIF4B_ENST00000416762.3_Frame_Shift_Ins_p.L3fs	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	3					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CAACATGGCGGCCTCAGGTGAG	0.614													117	85	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57603503	57603503	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:57603503delC	ENST00000243077.3	+	80	12757	c.12291delC	c.(12289-12291)gtfs	p.V4097fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4097					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCATCGACGTCTTTGAGGATT	0.562													55	32	---	---	---	---					
HNF1A	6927	broad.mit.edu	37	12	121432115	121432115	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:121432115delG	ENST00000257555.6	+	4	1088	c.862delG	c.(862-864)ggfs	p.G288fs	HNF1A_ENST00000400024.2_Frame_Shift_Del_p.G288fs|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Frame_Shift_Del_p.G288fs|HNF1A_ENST00000544413.1_Frame_Shift_Del_p.G288fs|HNF1A_ENST00000543427.1_Frame_Shift_Del_p.G171fs|HNF1A_ENST00000402929.1_Frame_Shift_Del_p.G288fs			P20823	HNF1A_HUMAN	HNF1 homeobox A	288					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACGTACAGCGGGCCCCCCCC	0.672									Hepatic Adenoma, Familial Clustering of				6	13	---	---	---	---					
B3GALTL	145173	broad.mit.edu	37	13	31803392	31803392	+	Frame_Shift_Del	DEL	A	A	-	rs141154947		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:31803392delA	ENST00000343307.4	+	4	380	c.231delA	c.(229-231)ttfs	p.L77fs		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	77					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CAGAGCAGTTAAAAAAAAGCA	0.373													26	48	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41704811	41704811	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:41704811delA	ENST00000379485.1	-	1	2071	c.1837delT	c.(1837-1839)gcfs	p.C613fs	KBTBD6_ENST00000499385.2_Frame_Shift_Del_p.C547fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	613							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GCAGAGAGGCAAAAAAAGTTA	0.418													24	79	---	---	---	---					
EIF3J	8669	broad.mit.edu	37	15	44853282	44853284	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:44853282_44853284delGAT	ENST00000261868.5	+	8	850_852	c.712_714delGAT	c.(712-714)del	p.D239del	EIF3J_ENST00000535391.1_In_Frame_Del_p.D185del|EIF3J_ENST00000424492.3_In_Frame_Del_p.D190del	NM_003758.2	NP_003749.2	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3, subunit J	239						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		CACCATGAAAGATGATCTGGCAG	0.384													53	139	---	---	---	---					
NR2F2	7026	broad.mit.edu	37	15	96875743	96875743	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:96875743delA	ENST00000394166.3	+	1	1798	c.409delA	c.(409-411)aafs	p.K138fs	NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	138	Interaction with ZFPM2 (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CTGCCGCCTCAAAAAGTGCCT	0.612													43	71	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													2	4	---	---	---	---					
NLRP1	22861	broad.mit.edu	37	17	5462268	5462268	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:5462268delT	ENST00000345221.3	-	4	2302	c.1748delA	c.(1747-1749)agfs	p.K583fs	NLRP1_ENST00000262467.5_Frame_Shift_Del_p.K583fs|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.K583fs|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.K583fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Frame_Shift_Del_p.K583fs|NLRP1_ENST00000572272.1_Frame_Shift_Del_p.K583fs	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	583	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GAAAAGGGTCTTTTTTTGCCA	0.532													21	50	---	---	---	---					
MYH1	4619	broad.mit.edu	37	17	10419786	10419786	+	Frame_Shift_Del	DEL	C	C	-	rs147810417		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:10419786delC	ENST00000226207.5	-	3	268	c.174delG	c.(172-174)ggfs	p.G58fs	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	58	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGTCACCTTCCCCCCTTCCC	0.473													79	162	---	---	---	---					
FLCN	201163	broad.mit.edu	37	17	17120445	17120446	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:17120445_17120446insC	ENST00000285071.4	-	10	1567_1568	c.1113_1114insG	c.(1111-1116)ggaccafs	p.P372fs	RP11-45M22.4_ENST00000427497.3_Frame_Shift_Ins_p.T79fs	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	372					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATCACCTGGTTCCCCATGAGAA	0.525									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dubé syndrome				14	55	---	---	---	---					
RP11-160E2.17	0	broad.mit.edu	37	17	18988562	18988562	+	RNA	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:18988562delT	ENST00000442355.2	+	0	272																											CTGATGTGTGTTTTTTTTTTT	0.279													3	3	---	---	---	---					
KSR1	8844	broad.mit.edu	37	17	25910016	25910016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:25910016delC	ENST00000398988.3	+	5	899	c.454delC	c.(454-456)ccfs	p.P155fs	KSR1_ENST00000319524.6_Frame_Shift_Del_p.P292fs|KSR1_ENST00000509603.2_Frame_Shift_Del_p.P292fs|KSR1_ENST00000268763.6_Frame_Shift_Del_p.P155fs	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	290					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P292fs*22(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACCACGGACGCCCCCCCCACC	0.682													11	20	---	---	---	---					
ZNF207	7756	broad.mit.edu	37	17	30694866	30694866	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:30694866delC	ENST00000394670.4	+	10	1166	c.997delC	c.(997-999)ccfs	p.P334fs	ZNF207_ENST00000341711.6_Frame_Shift_Del_p.P235fs|ZNF207_ENST00000577908.1_Frame_Shift_Del_p.P334fs|ZNF207_ENST00000394673.2_Frame_Shift_Del_p.P303fs|ZNF207_ENST00000342555.6_Frame_Shift_Del_p.P337fs|ZNF207_ENST00000321233.6_Frame_Shift_Del_p.P318fs	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	318						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AACTACAGAACCCCCAAAGCC	0.423													10	106	---	---	---	---					
GAS2L2	246176	broad.mit.edu	37	17	34074112	34074112	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:34074112delG	ENST00000254466.6	-	5	1035	c.1008delC	c.(1006-1008)ccfs	p.P336fs	GAS2L2_ENST00000587565.1_Frame_Shift_Del_p.P320fs	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	336					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGATGGGGTGGGGGGCCTCA	0.632													25	64	---	---	---	---					
PIGW	284098	broad.mit.edu	37	17	34894126	34894127	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:34894126_34894127insA	ENST00000592983.1	+	2	1756_1757	c.1176_1177insA	c.(1174-1179)gataatfs	p.DN392fs	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Frame_Shift_Ins_p.DN392fs			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	392					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TACTGGGTGATATAATTTTGAG	0.337													20	52	---	---	---	---					
LOC146880	146880	broad.mit.edu	37	17	62754594	62754599	+	RNA	DEL	CAAATG	CAAATG	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:62754594_62754599delCAAATG	ENST00000400873.3	-	0	1703					NR_026899.1																						CATCCCTTTCCAAATGTCTTCCCATT	0.374													11	42	---	---	---	---					
RNF213	57674	broad.mit.edu	37	17	78263552	78263553	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:78263552_78263553insG	ENST00000582970.1	+	6	1171_1172	c.1028_1029insG	c.(1027-1029)gggfs	p.G343fs	RNF213_ENST00000319921.4_Frame_Shift_Ins_p.G343fs|RNF213_ENST00000456466.1_Frame_Shift_Ins_p.G343fs|RNF213_ENST00000508628.2_Frame_Shift_Ins_p.G392fs	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	343										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)			AAGAAGCCAGAGGGGAAGAACA	0.515													13	40	---	---	---	---					
CHAF1A	10036	broad.mit.edu	37	19	4423354	4423354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:4423354delA	ENST00000301280.5	+	6	1371	c.1270delA	c.(1270-1272)aafs	p.K425fs		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	425	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAAAAAGGAAAAAGGAAGA	0.483								Chromatin Structure					35	66	---	---	---	---					
TSPAN16	26526	broad.mit.edu	37	19	11422814	11422814	+	Splice_Site	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:11422814delG	ENST00000316737.1	+	6	753		c.e6-1		TSPAN16_ENST00000590327.1_Splice_Site|CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Splice_Site	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16							integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TGTTTCCTCAGGGCTGTTTCC	0.507													9	28	---	---	---	---					
PKN1	5585	broad.mit.edu	37	19	14562741	14562741	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:14562741delC	ENST00000242783.6	+	7	1236	c.1071delC	c.(1069-1071)cgfs	p.R357fs	PKN1_ENST00000342216.4_Frame_Shift_Del_p.R363fs	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	357	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	p.F360fs*2(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CAGACAGCCGCCCCCCCTTCC	0.667													12	27	---	---	---	---					
NOTCH3	4854	broad.mit.edu	37	19	15302405	15302405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:15302405delC	ENST00000263388.2	-	6	941	c.866delG	c.(865-867)gtfs	p.G289fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	289	EGF-like 7.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GAAGCAGGTACCCCCATTGTG	0.612													15	34	---	---	---	---					
LPAR2	9170	broad.mit.edu	37	19	19737403	19737403	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:19737403delG	ENST00000542587.1	-	5	1593	c.691delC	c.(691-693)gcfs	p.R231fs	LPAR2_ENST00000407877.3_Frame_Shift_Del_p.R231fs|LPAR2_ENST00000586703.1_Frame_Shift_Del_p.R231fs			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	231					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						TCTCGGTAGCGGGGGTGGCAG	0.617													51	134	---	---	---	---					
ZNF85	7639	broad.mit.edu	37	19	21132352	21132353	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:21132352_21132353insA	ENST00000601023.1	+	2	1501_1502	c.855_856insA	c.(853-858)tgaaaafs	p.*K285fs	ZNF85_ENST00000328178.8_Frame_Shift_Ins_p.*K344fs|ZNF85_ENST00000345030.6_Frame_Shift_Ins_p.*K311fs			Q03923	ZNF85_HUMAN	zinc finger protein 85	344						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CCTACAAATGTAAAAAATGTGG	0.376													16	45	---	---	---	---					
SUPT5H	6829	broad.mit.edu	37	19	39962359	39962359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:39962359delG	ENST00000599117.1	+	21	2306	c.1939delG	c.(1939-1941)ggfs	p.G648fs	SUPT5H_ENST00000402194.2_Frame_Shift_Del_p.G644fs|SUPT5H_ENST00000432763.2_Frame_Shift_Del_p.G648fs|SUPT5H_ENST00000359191.6_Frame_Shift_Del_p.G644fs|SUPT5H_ENST00000598725.1_Frame_Shift_Del_p.G648fs			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	648					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTGCTGGCTGGGGGCTCAAA	0.587													31	45	---	---	---	---					
MYPOP	339344	broad.mit.edu	37	19	46393941	46393942	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:46393941_46393942insG	ENST00000322217.5	-	3	1225_1226	c.1139_1140insC	c.(1138-1140)ccafs	p.P380fs		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	380	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						TCCGCTTGTGTGGGGGGGAGTC	0.644													11	23	---	---	---	---					
GLTSCR1	29998	broad.mit.edu	37	19	48197890	48197891	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:48197890_48197891insC	ENST00000396720.3	+	8	2996_2997	c.2802_2803insC	c.(2800-2805)gcccccfs	p.AP934fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	934							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		AGCCGGCAGCACCCCCCCCACC	0.673													28	23	---	---	---	---					
EMILIN3	90187	broad.mit.edu	37	20	39990829	39990829	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:39990829delC	ENST00000332312.3	-	4	1572	c.1380delG	c.(1378-1380)ggfs	p.G460fs		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	460						proteinaceous extracellular matrix		p.W461fs*31(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCACTCCCCACCCCCCCATGT	0.637													7	202	---	---	---	---					
AP001604.3	0	broad.mit.edu	37	21	28793489	28793490	+	RNA	INS	-	-	T	rs144948060		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:28793489_28793490insT	ENST00000420186.2	-	0	202																											atttttttttcttttttttttt	0.347													2	4	---	---	---	---					
BRWD1	54014	broad.mit.edu	37	21	40649223	40649223	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:40649223delA	ENST00000342449.3	-	11	1136	c.1058delT	c.(1057-1059)tgfs	p.L353fs	BRWD1_ENST00000380800.3_Frame_Shift_Del_p.L353fs|BRWD1_ENST00000333229.2_Frame_Shift_Del_p.L353fs	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCAAAACCCAAAAAATACAT	0.323													8	42	---	---	---	---					
KRTAP10-10	353333	broad.mit.edu	37	21	46057597	46057597	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:46057597delC	ENST00000380095.1	+	1	325	c.263delC	c.(262-264)tcfs	p.S88fs	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	88	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGCACCTCCTCCCcctgccag	0.642													57	147	---	---	---	---					
GAS2L1	10634	broad.mit.edu	37	22	29708273	29708273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:29708273delG	ENST00000406549.3	+	6	1302	c.1152delG	c.(1150-1152)atfs	p.M384fs	GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	393					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						GCCCTGGCATGGGGGGGCCAC	0.677													15	91	---	---	---	---					
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	RNA	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:42898666delC	ENST00000359906.2	+	0	409					NR_027786.1				serine hydrolase-like											endometrium(1)|large_intestine(1)	2						CCATATGGTGCCCCCCCCCCA	0.592													9	13	---	---	---	---					
PPP2R3B	28227	broad.mit.edu	37	X	302052	302052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:302052delT	ENST00000390665.3	-	9	1183	c.1165delA	c.(1165-1167)cafs	p.T389fs		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	389	EF-hand.				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGGTCGGTGTTTTTTTGTCT	0.567													7	612	---	---	---	---					
MAGED1	9500	broad.mit.edu	37	X	51637752	51637752	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:51637752delC	ENST00000375695.2	+	3	228	c.75delC	c.(73-75)cafs	p.H25fs	MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000375722.1_Intron	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	0					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CAGTCTGTCACCCCCTCCCCC	0.562										Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	11	---	---	---	---					
TAF7L	54457	broad.mit.edu	37	X	100538467	100538467	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:100538467delT	ENST00000372907.3	-	4	519	c.508delA	c.(508-510)ccfs	p.T170fs	TAF7L_ENST00000324762.6_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000356784.1_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000372905.2_Frame_Shift_Del_p.T84fs	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	170					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTATAAAAGGTTTTTTTATCA	0.393													96	48	---	---	---	---					
RNF128	79589	broad.mit.edu	37	X	105937256	105937256	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:105937256delT	ENST00000324342.3	+	1	189	c.24delT	c.(22-24)agfs	p.S8fs		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATAGGTCCAGTTTTTTTTGGC	0.343													14	7	---	---	---	---					
RBMY2EP	159125	broad.mit.edu	37	Y	23563322	23563323	+	RNA	DEL	AC	AC	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrY:23563322_23563323delAC	ENST00000444169.1	-	0	86					NR_001574.2																						ATATGAAAATacacacacacac	0.302													7	56	---	---	---	---