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
SETD2	29072	broad.mit.edu	37	3	47164342	47164342	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:47164342G>A	ENST00000409792.3	-	3	1826	c.1784C>T	c.(1783-1785)tCa>tTa	p.S595L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACTACCTTTTGAACAAGGTGT	0.308000			"""N, F, S, Mis"""		clear cell renal carcinoma								8	45					0	0	0.058154	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174876	207174876	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:207174876A>G	ENST00000374423.3	+	5	6010	c.5624A>G	c.(5623-5625)aAg>aGg	p.K1875R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1875							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGGAAAAAAAAGGTTACCTGG	0.418000													8	44					0	0	0.038147	0	0
DNAH9	1770	broad.mit.edu	37	17	11573107	11573107	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:11573107C>T	ENST00000262442.3	+	17	3417	c.3349C>T	c.(3349-3351)Cac>Tac	p.H1117Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.H1117Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1117	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACGTCACTCACAGGTACAA	0.408000													13	122					0	0	0.020292	0	0
TRIM51	84767	broad.mit.edu	37	11	55653198	55653198	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:55653198G>C	ENST00000449290.2	+	2	386	c.294G>C	c.(292-294)gaG>gaC	p.E98D		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	98						intracellular	zinc ion binding	p.E98D(1)									TGCACAGAGAGACAAAGAAGA	0.488000													3	43					0	0	0.004672	0	0
SOS2	6655	broad.mit.edu	37	14	50655318	50655318	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:50655318C>G	ENST00000216373.5	-	5	885	c.611G>C	c.(610-612)aGa>aCa	p.R204T	SOS2_ENST00000543680.1_Missense_Mutation_p.R204T	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	204	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GATTTCAGTTCTGACAAGATC	0.358000													7	38					0	0	0.029380	0	0
ATP6V0E2	155066	broad.mit.edu	37	7	149575776	149575776	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:149575776C>T	ENST00000456496.2	+	3	1260	c.309C>T	c.(307-309)atC>atT	p.I103I	ATP6V0E2_ENST00000421974.2_Intron|ATP6V0E2_ENST00000495408.1_3'UTR|ATP6V0E2_ENST00000425642.2_Silent_p.I54I|ATP6V0E2_ENST00000479613.1_Silent_p.I54I|ATP6V0E2_ENST00000606024.1_Intron|ATP6V0E2_ENST00000464662.1_Silent_p.I54I	NM_145230.2	NP_660265.2	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	54					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			GCTGGCTCATCGCCATCCTGG	0.642000													7	28					0	0	0.029380	0	0
FGF22	27006	broad.mit.edu	37	19	643502	643502	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:643502G>T	ENST00000215530.5	+	3	442	c.411G>T	c.(409-411)caG>caT	p.Q137H	FGF22_ENST00000586042.2_Missense_Mutation_p.A130S|FGF22_ENST00000166133.3_Missense_Mutation_p.Q96H	NM_020637.1	NP_065688.1	Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22	137					cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity	p.Q137H(1)		endometrium(1)|lung(1)|prostate(1)	3		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCCGCGGCCAGCCCATGTTCC	0.721000													4	17					0.00024832	0.000260736	0.009096	1	0
TTLL8	164714	broad.mit.edu	37	22	50479626	50479626	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr22:50479626C>T	ENST00000266182.6	-	8	910	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	TTLL8_ENST00000440475.1_Intron					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CTGCCTGTCTCGGGCTGTGGG	0.567000													4	79					0	0	0.021553	0	0
ITIH6	347365	broad.mit.edu	37	X	54784515	54784515	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:54784515C>T	ENST00000218436.6	-	8	2021	c.1992G>A	c.(1990-1992)gtG>gtA	p.V664V		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	664					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										ACTTTGGTTTCACAGGCCTTG	0.527000													11	68					0	0	0.069234	0	0
SHROOM3	57619	broad.mit.edu	37	4	77476765	77476765	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:77476765G>A	ENST00000296043.6	+	2	1125	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	58	PDZ.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAAGCAGGTCGAAGAAGGGGG	0.602000													5	36					0	0	0.014758	0	0
SAT1	6303	broad.mit.edu	37	X	23803921	23803921	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:23803921G>A	ENST00000379270.4	+	6	643	c.464G>A	c.(463-465)aGa>aAa	p.R155K	SAT1_ENST00000379254.1_Missense_Mutation_p.R127K|SAT1_ENST00000489394.1_3'UTR	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	155	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	GAGGGTTGGAGACTGTTCAAG	0.428000													15	67					0	0	0.024245	0	0
MYRF	745	broad.mit.edu	37	11	61551037	61551037	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:61551037C>T	ENST00000278836.5	+	23	3180	c.3084C>T	c.(3082-3084)atC>atT	p.I1028I	MYRF_ENST00000265460.5_Silent_p.I988I|MYRF_ENST00000389602.4_Silent_p.I414I|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CGATGTCCATCACCTCCCAGT	0.617000													9	110					0	0	0.047766	0	0
NLRP1	22861	broad.mit.edu	37	17	5462454	5462454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:5462454C>T	ENST00000345221.3	-	4	2116	c.1562G>A	c.(1561-1563)tGg>tAg	p.W521*	NLRP1_ENST00000354411.3_Nonsense_Mutation_p.W521*|NLRP1_ENST00000262467.5_Nonsense_Mutation_p.W521*|NLRP1_ENST00000269280.4_Nonsense_Mutation_p.W521*|NLRP1_ENST00000577119.1_Nonsense_Mutation_p.W521*|NLRP1_ENST00000572272.1_Nonsense_Mutation_p.W521*|NLRP1_ENST00000571307.1_5'UTR	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	521	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)				CCAGGACACCCAGGGCACAAG	0.478000													7	94					0	0	0.038147	0	0
USP35	57558	broad.mit.edu	37	11	77924770	77924770	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:77924770G>C	ENST00000529308.1	+	11	3229	c.2968G>C	c.(2968-2970)Gat>Cat	p.D990H	USP35_ENST00000526425.1_Missense_Mutation_p.D721H|USP35_ENST00000530267.1_Missense_Mutation_p.D558H|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Missense_Mutation_p.D576H	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	990					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GAGGGGCTTTGATGAAGACAA	0.587000													5	51					0	0	0.014758	0	0
CCNK	8812	broad.mit.edu	37	14	99959906	99959906	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:99959906C>T	ENST00000389879.5	+	3	376	c.253C>T	c.(253-255)Cat>Tat	p.H85Y	CCNK_ENST00000555049.1_Missense_Mutation_p.H85Y|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	85					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CTATATGTTTCATTCCTTCAA	0.318000													8	70					0	0	0.047766	0	0
XPOT	11260	broad.mit.edu	37	12	64812808	64812808	+	Silent	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:64812808C>G	ENST00000332707.5	+	6	952	c.423C>G	c.(421-423)ctC>ctG	p.L141L		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	141	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.L141L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GAGTAGATCTCTACCTGCGAA	0.398000													4	266					0	0	0.014758	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12862203	12862203	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:12862203C>A	ENST00000379672.5	+	16	1812	c.1512C>A	c.(1510-1512)taC>taA	p.Y504*	ARHGAP44_ENST00000340825.3_Nonsense_Mutation_p.Y504*|ARHGAP44_ENST00000262444.9_Nonsense_Mutation_p.Y504*	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	504					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGGAGTTTTACAAAAAGGATG	0.572000													3	20					0.00909568	0.0093501	0.009096	1	0
SYCP2L	221711	broad.mit.edu	37	6	10903148	10903148	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr6:10903148G>C	ENST00000283141.6	+	8	889	c.593G>C	c.(592-594)cGa>cCa	p.R198P	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.R39P	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	198						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GCTGTCCCTCGAGAAGAGAGA	0.388000													5	40					0	0	0.021553	0	0
MEFV	4210	broad.mit.edu	37	16	3304457	3304457	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr16:3304457C>T	ENST00000219596.1	-	2	650	c.611G>A	c.(610-612)cGc>cAc	p.R204H	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	204					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGCGTTTCTGCGCAGCCGGAC	0.766000													4	27					0	0	0.014758	0	0
OAZ2	4947	broad.mit.edu	37	15	64982656	64982656	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr15:64982656G>A	ENST00000326005.6	-	4	502	c.270C>T	c.(268-270)gtC>gtT	p.V90V	OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560837.1_5'UTR|OAZ2_ENST00000560258.2_Silent_p.V90V			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	90					polyamine metabolic process|regulation of cellular amino acid metabolic process	cytosol|nucleus	ornithine decarboxylase inhibitor activity|protein binding									L-Ornithine(DB00129)	CCCAAGAAGAGACCTTCACCT	0.507000													21	104					0	0	0.062417	0	0
ADCY3	109	broad.mit.edu	37	2	25043595	25043595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:25043595G>A	ENST00000260600.5	-	20	4101	c.3250C>T	c.(3250-3252)Cag>Tag	p.Q1084*	CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Nonsense_Mutation_p.Q671*|CENPO_ENST00000473706.1_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1084					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGACATACCTGAATGTTGCCC	0.597000													9	73					0	0	0.047766	0	0
CDH8	1006	broad.mit.edu	37	16	62055210	62055210	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr16:62055210T>C	ENST00000577390.1	-	2	1052	c.98A>G	c.(97-99)aAt>aGt	p.N33S	CDH8_ENST00000577730.1_Missense_Mutation_p.N33S|CDH8_ENST00000299345.6_Missense_Mutation_p.N33S|CDH8_ENST00000584337.1_Missense_Mutation_p.N33S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	33					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTGAGACTGATTCATCGGAGC	0.443000													14	68					0	0	0.105934	0	0
SVEP1	79987	broad.mit.edu	37	9	113169875	113169875	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr9:113169875C>T	ENST00000401783.2	-	38	8341	c.8005G>A	c.(8005-8007)Gct>Act	p.A2669T	SVEP1_ENST00000297826.5_Missense_Mutation_p.A595T|SVEP1_ENST00000374469.1_Missense_Mutation_p.A2646T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2669	Sushi 21.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAATGTGTAGCAGGAGACTCC	0.453000													56	195					0	0	0.048971	0	0
CARKD	55739	broad.mit.edu	37	13	111287916	111287916	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr13:111287916C>G	ENST00000309957.2	+	8	767	c.753C>G	c.(751-753)atC>atG	p.I251M	CARKD_ENST00000458711.2_Missense_Mutation_p.I120M|CARKD_ENST00000424185.2_Missense_Mutation_p.I141M|CARKD_ENST00000470164.2_3'UTR	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	251	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						AGCGCGACATCCTCTCCAACG	0.622000													4	52					0	0	0.014758	0	0
S100A7	6278	broad.mit.edu	37	1	153431379	153431379	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:153431379C>T	ENST00000368723.3	-	2	221	c.111G>A	c.(109-111)aaG>aaA	p.K37K	S100A7_ENST00000368722.1_Silent_p.K37K	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	37	EF-hand 1.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAAGTTCTCCTTCATCATCG	0.473000													9	90					0	0	0.069234	0	0
ZAK	51776	broad.mit.edu	37	2	174104208	174104208	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:174104208C>G	ENST00000375213.3	+	16	1421	c.1343C>G	c.(1342-1344)cCa>cGa	p.P448R	MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.P448R	NM_016653.2	NP_057737.2																					CACTTGAAACCAGGAACTGGC	0.388000													8	48					0	0	0.038147	0	0
VEPH1	79674	broad.mit.edu	37	3	157177889	157177889	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:157177889C>T	ENST00000494677.1	-	5	1132	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000537559.1_Intron|VEPH1_ENST00000468233.1_Missense_Mutation_p.E204K	NM_001167915.1	NP_001161387.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	0						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTCTTGCTTCCCACAAACCA	0.393000													4	67					0	0	0.009096	0	0
CDNF	441549	broad.mit.edu	37	10	14862117	14862117	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:14862117C>T	ENST00000378442.1	-	6	623	c.120G>A	c.(118-120)atG>atA	p.M40I	CDNF_ENST00000378441.2_5'UTR			Q49AH0	CDNF_HUMAN	cerebral dopamine neurotrophic factor	142						extracellular region	growth factor activity			breast(2)|large_intestine(2)|lung(1)	5						CTGCCACTCTCATCTTCCGCA	0.443000													25	101					0	0	0.099896	0	0
AGO3	192669	broad.mit.edu	37	1	36479255	36479255	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:36479255G>C	ENST00000373191.4	+	10	1523	c.1174G>C	c.(1174-1176)Gat>Cat	p.D392H	AGO3_ENST00000246314.6_Missense_Mutation_p.D158H	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		TTATGAAACAGATCCATTTGT	0.393000													7	90					0	0	0.029380	0	0
NOX1	27035	broad.mit.edu	37	X	100117563	100117563	+	Splice_Site	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:100117563C>T	ENST00000372966.3	-	6	695		c.e6-1		NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Splice_Site|NOX1_ENST00000217885.5_Splice_Site	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1						angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACTCCACTGTCTGTGAAAGGA	0.463000													28	240					0	0	0.030593	0	0
GAD2	2572	broad.mit.edu	37	10	26575364	26575364	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:26575364G>A	ENST00000376261.3	+	13	1830	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	GAD2_ENST00000259271.3_Missense_Mutation_p.A443T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	443					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGGAGACAAGGCCTTACAGTG	0.438000													23	60					0	0	0.069288	0	0
FMN2	56776	broad.mit.edu	37	1	240370553	240370553	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:240370553C>G	ENST00000319653.9	+	5	2671	c.2441C>G	c.(2440-2442)cCa>cGa	p.P814R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	814	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCACCACCTCCATCCCTTCTG	0.527000													7	66					0	0	0.029380	0	0
ACE	1636	broad.mit.edu	37	17	61573862	61573862	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:61573862C>T	ENST00000577647.1	+	12	1811	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V	ACE_ENST00000421982.2_Intron|ACE_ENST00000428043.1_Intron|ACE_ENST00000290866.4_Missense_Mutation_p.A1163V|ACE_ENST00000413513.3_Intron|ACE_ENST00000490216.2_Missense_Mutation_p.A589V|ACE_ENST00000290863.6_Missense_Mutation_p.A589V			P12821	ACE_HUMAN	angiotensin I converting enzyme	1163	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCCAAGGAGGCCGGGCAGCGC	0.627000													5	41					0	0	0.021553	0	0
SSRP1	6749	broad.mit.edu	37	11	57099146	57099146	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:57099146C>G	ENST00000278412.2	-	9	1485	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	407					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCTCACCTCTCAATGCTGCTG	0.532000													8	41					0	0	0.038147	0	0
FANCD2	2177	broad.mit.edu	37	3	10088287	10088287	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:10088287C>T	ENST00000287647.3	+	15	1251	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	FANCD2_ENST00000383807.1_Silent_p.F386F|FANCD2_ENST00000383806.1_Silent_p.F386F|FANCD2_ENST00000419585.1_Silent_p.F386F	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	386					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGATGCTTTTCATCATCTATA	0.373000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	39					0	0	0.058154	0	0
SEMA4G	57715	broad.mit.edu	37	10	102737432	102737432	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:102737432C>T	ENST00000210633.3	+	4	458	c.380C>T	c.(379-381)tCt>tTt	p.S127F	SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.S127F|SEMA4G_ENST00000370250.4_Missense_Mutation_p.S127F			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	127	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CGGCTCAATTCTACCCACCTC	0.557000													18	86					0	0	0.049695	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830511	7830511	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:7830511C>T	ENST00000359059.5	+	3	257	c.139C>T	c.(139-141)Ctt>Ttt	p.L47F	CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000595496.1_Missense_Mutation_p.L47F|CLEC4M_ENST00000248228.4_Intron|CLEC4M_ENST00000394122.2_Intron|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000327325.5_Intron|CLEC4M_ENST00000596707.1_Missense_Mutation_p.L47F	NM_001144906.1|NM_001144907.1	NP_001138378.1|NP_001138379.1	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	68					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						agttcCTTTTCTTCTTGGCCC	0.502000													3	79					0	0	0.009096	0	0
ATR	545	broad.mit.edu	37	3	142285095	142285095	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:142285095C>G	ENST00000350721.4	-	3	281	c.160G>C	c.(160-162)Gaa>Caa	p.E54Q	ATR_ENST00000383101.3_Missense_Mutation_p.E54Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	54					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTACAAGTTCTACAGCAACT	0.388000								Other conserved DNA damage response genes					3	48					0	0	0.004672	0	0
GHR	2690	broad.mit.edu	37	5	42711358	42711358	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:42711358A>G	ENST00000230882.4	+	7	858	c.668A>G	c.(667-669)gAt>gGt	p.D223G	GHR_ENST00000357703.3_Missense_Mutation_p.D201G|GHR_ENST00000537449.1_Missense_Mutation_p.D36G	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	223	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTGAAAGTGGATAAGGAATAT	0.398000													45	83					0	0	0.039052	0	0
OR4D2	124538	broad.mit.edu	37	17	56247069	56247069	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:56247069C>G	ENST00000545221.1	+	1	53	c.53C>G	c.(52-54)tCg>tGg	p.S18W		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTGGGGCTCTCGCAGACTCGG	0.468000													11	89					0	0	0.080935	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2																						CTCTTGTACTAGAAACAGACC	0.552000													5	54					0	0	0.038147	0	0
FGA	2243	broad.mit.edu	37	4	155506821	155506821	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:155506821G>A	ENST00000302053.3	-	5	1838	c.1760C>T	c.(1759-1761)aCg>aTg	p.T587M	FGA_ENST00000403106.3_Missense_Mutation_p.T587M	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	587					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTTGTAACTCGTGCTACTAGT	0.433000													28	75					0	0	0.108266	0	0
TMEM104	54868	broad.mit.edu	37	17	72832494	72832494	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:72832494G>A	ENST00000335464.5	+	10	1321	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.E387K|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	387						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CTTCCACCGCGAGGGCGGCAC	0.632000													4	104					0	0	0.009096	0	0
ZFR2	23217	broad.mit.edu	37	19	3823275	3823275	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:3823275G>A	ENST00000262961.4	-	8	1350	c.1340C>T	c.(1339-1341)gCg>gTg	p.A447V		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	447						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CACCGGCTGCGCATCAGAGCA	0.617000													40	68					0	0	0.111260	0	0
TEX13A	56157	broad.mit.edu	37	X	104464968	104464968	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:104464968A>T	ENST00000372578.3	-	2	225	c.114T>A	c.(112-114)aaT>aaA	p.N38K	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.N38K|TEX13A_ENST00000372575.1_Missense_Mutation_p.N38K|IL1RAPL2_ENST00000344799.4_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	38						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						ATAAGGATATATTCTCAAGAT	0.572000													6	36					0	0	0.021553	0	0
BPTF	2186	broad.mit.edu	37	17	65888058	65888058	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:65888058C>T	ENST00000321892.4	+	7	2402	c.2341C>T	c.(2341-2343)Cgg>Tgg	p.R781W	BPTF_ENST00000335221.5_Missense_Mutation_p.R781W|BPTF_ENST00000424123.3_Missense_Mutation_p.R642W|BPTF_ENST00000306378.6_Missense_Mutation_p.R655W			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	781					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CACCAGATTGCGGAATCCAGA	0.478000													9	21					0	0	0.058154	0	0
RYR1	6261	broad.mit.edu	37	19	38985060	38985060	+	Missense_Mutation	SNP	G	G	A	rs147197176		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:38985060G>A	ENST00000355481.4	+	39	6474	c.6343G>A	c.(6343-6345)Gag>Aag	p.E2115K	RYR1_ENST00000360985.3_Missense_Mutation_p.E2115K|RYR1_ENST00000359596.3_Missense_Mutation_p.E2115K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2115	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGAGCCCCGAGCTGGTGCG	0.667000													3	36					0	0	0.009096	0	0
GPR20	2843	broad.mit.edu	37	8	142367126	142367126	+	Missense_Mutation	SNP	C	C	T	rs150478338		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:142367126C>T	ENST00000377741.3	-	2	988	c.898G>A	c.(898-900)Gtc>Atc	p.V300I		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	300						integral to plasma membrane	G-protein coupled receptor activity	p.V300I(1)		NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CCACTGGTGACGAAGCAGTAG	0.647000													7	70					0	0	0.047766	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22434185	22434185	+	RNA	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:22434185G>C	ENST00000390442.3	+	0	294																											TAACAAAGAAGATGGAAGGTT	0.438000													32	182					0	0	0.037714	0	0
TTN	7273	broad.mit.edu	37	2	179437281	179437281	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:179437281C>T	ENST00000589042.1	-	326	73802	c.73578G>A	c.(73576-73578)ctG>ctA	p.L24526L	TTN_ENST00000591111.1_Silent_p.L22885L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.L15586L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L15461L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.L15653L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.L21958L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22885	Fibronectin type-III 78.						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)			CTTTTACCTTCAGATCCTGTG	0.433000													6	70					0	0	0.029380	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102449517	102449517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:102449517C>T	ENST00000360184.4	+	6	1287	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	375	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATATCCTATTCAGAGGGCACT	0.418000													10	58					0	0	0.080935	0	0
CLDN9	9080	broad.mit.edu	37	16	3063730	3063730	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr16:3063730G>C	ENST00000445369.2	+	1	1274	c.367G>C	c.(367-369)Gtc>Ctc	p.V123L		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	123					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CACCGCGGGGGTCATCCTCCT	0.657000													13	85					0	0	0.020292	0	0
NAPA	8775	broad.mit.edu	37	19	48018174	48018174	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:48018174C>T	ENST00000263354.3	-	1	323	c.24G>A	c.(22-24)gcG>gcA	p.A8A	NAPA_ENST00000593785.1_5'UTR|NAPA_ENST00000595227.1_Silent_p.A8A	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	8					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CCATCGCCTCCGCTTCCTTCC	0.652000													16	18					0	0	0.028581	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37474742	37474742	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:37474742A>T	ENST00000002125.4	+	9	1120	c.1080A>T	c.(1078-1080)ttA>ttT	p.L360F	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.L262F	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		ACACATTTTTAAAAAATATGG	0.343000													9	51					0	0	0.047766	0	0
LRRC14B	389257	broad.mit.edu	37	5	195216	195216	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:195216C>T	ENST00000328278.3	+	2	1321	c.1293C>T	c.(1291-1293)ccC>ccT	p.P431P		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	431										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						ACTGCTACCCCGAGGGTGCCG	0.672000													25	119					0	0	0.091800	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													8	79					0	0	0.038147	0	0
IMPDH1	3614	broad.mit.edu	37	7	128034977	128034977	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:128034977C>G	ENST00000338791.6	-	14	1866	c.1516G>C	c.(1516-1518)Gag>Cag	p.E506Q	IMPDH1_ENST00000470772.1_Missense_Mutation_p.E420Q|IMPDH1_ENST00000496200.1_Missense_Mutation_p.E396Q|IMPDH1_ENST00000354269.5_Missense_Mutation_p.E496Q|IMPDH1_ENST00000419067.2_Missense_Mutation_p.E473Q|IMPDH1_ENST00000378717.4_Missense_Mutation_p.E437Q|IMPDH1_ENST00000480861.1_Missense_Mutation_p.E416Q|IMPDH1_ENST00000343214.4_Missense_Mutation_p.E396Q|IMPDH1_ENST00000348127.6_Missense_Mutation_p.E470Q	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	421					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CTGCTCTTCTCCATGGCATCC	0.637000													3	62					0	0	0.009096	0	0
TRIM67	440730	broad.mit.edu	37	1	231344791	231344791	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:231344791G>T	ENST00000444294.3	+	8	2770	c.1912G>T	c.(1912-1914)Gtg>Ttg	p.V638L	TRIM67_ENST00000366652.2_Missense_Mutation_p.V640L|TRIM67_ENST00000449018.3_Missense_Mutation_p.V578L|TRIM67_ENST00000366653.5_Missense_Mutation_p.V640L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	640	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CGACCGGGTGGTGCTGGGCAC	0.612000													5	112					1.23904e-05	1.31985e-05	0.014758	1	0
FGD4	121512	broad.mit.edu	37	12	32793362	32793362	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:32793362G>A	ENST00000427716.2	+	17	2620	c.2196G>A	c.(2194-2196)ctG>ctA	p.L732L	FGD4_ENST00000546442.1_Silent_p.L639L|FGD4_ENST00000534526.2_Silent_p.L869L|FGD4_ENST00000531134.1_Silent_p.L817L|FGD4_ENST00000525053.1_Silent_p.L844L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	732	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AGAAGTGGCTGAAAGTCATCC	0.493000													5	67					0	0	0.014758	0	0
ESRRG	2104	broad.mit.edu	37	1	216737739	216737739	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:216737739G>A	ENST00000391890.3	-	7	1153	c.636C>T	c.(634-636)ctC>ctT	p.L212L	ESRRG_ENST00000359162.2_Intron|ESRRG_ENST00000408911.3_Intron|ESRRG_ENST00000366937.1_Silent_p.L240L|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000493748.1_Intron|ESRRG_ENST00000360012.3_Intron|ESRRG_ENST00000493603.1_Intron|ESRRG_ENST00000487276.1_Intron|ESRRG_ENST00000366940.2_Intron|ESRRG_ENST00000366938.2_Intron|ESRRG_ENST00000361525.3_Intron|ESRRG_ENST00000361395.2_Intron	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	234					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GATCAGACCAGAGCACTACAA	0.413000													4	68					0	0	0.021553	0	0
GFPT1	2673	broad.mit.edu	37	2	69565126	69565126	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:69565126C>T	ENST00000357308.4	-	15	1564	c.1386G>A	c.(1384-1386)gtG>gtA	p.V462V	GFPT1_ENST00000361060.4_Silent_p.V444V	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	462	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TTGTGATCCCCACAGTTAAAG	0.448000													52	90					0	0	0.048971	0	0
HLTF	6596	broad.mit.edu	37	3	148768099	148768099	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:148768099C>G	ENST00000310053.5	-	15	1730	c.1537G>C	c.(1537-1539)Gat>Cat	p.D513H	HLTF_ENST00000494055.1_Missense_Mutation_p.D513H|HLTF_ENST00000465259.1_Missense_Mutation_p.D512H|HLTF_ENST00000392912.2_Missense_Mutation_p.D513H	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	513	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTAATACGATCAGGACCATAA	0.299000													6	114					0	0	0.021553	0	0
AHDC1	27245	broad.mit.edu	37	1	27876046	27876046	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:27876046G>A	ENST00000374011.2	-	6	3549	c.2581C>T	c.(2581-2583)Cgc>Tgc	p.R861C	AHDC1_ENST00000247087.5_Missense_Mutation_p.R861C|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	861							DNA binding			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)		GACTCTGGGCGAGAGGCTGAG	0.652000													5	53					0	0	0.014758	0	0
PDGFRB	5159	broad.mit.edu	37	5	149500844	149500844	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:149500844G>A	ENST00000261799.4	-	17	2855	c.2386C>T	c.(2386-2388)Cca>Tca	p.P796S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	796	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTAGCACTGGAGACTCGTTG	0.562000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								5	60					0	0	0.014758	0	0
IMPDH1	3614	broad.mit.edu	37	7	128034398	128034398	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:128034398C>G	ENST00000338791.6	-	16	2062	c.1712G>C	c.(1711-1713)gGa>gCa	p.G571A	IMPDH1_ENST00000470772.1_Missense_Mutation_p.G485A|IMPDH1_ENST00000496200.1_Missense_Mutation_p.G461A|IMPDH1_ENST00000354269.5_Missense_Mutation_p.G561A|IMPDH1_ENST00000419067.2_Missense_Mutation_p.G538A|IMPDH1_ENST00000378717.4_Missense_Mutation_p.G502A|IMPDH1_ENST00000480861.1_Missense_Mutation_p.G481A|IMPDH1_ENST00000343214.4_Missense_Mutation_p.G461A|IMPDH1_ENST00000348127.6_Missense_Mutation_p.G535A	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	486					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CTTGAGCTCTCCTGAGTACAT	0.577000													3	43					0	0	0.004672	0	0
MYH10	4628	broad.mit.edu	37	17	8383453	8383453	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:8383453C>G	ENST00000360416.3	-	40	5710	c.5572G>C	c.(5572-5574)Gag>Cag	p.E1858Q	MYH10_ENST00000396239.1_Missense_Mutation_p.E1848Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1843Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1827Q|NDEL1_ENST00000299734.7_Intron	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1827					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AGCTGCTCCTCCAGCTGCCCA	0.522000													6	92					0	0	0.021553	0	0
FITM2	128486	broad.mit.edu	37	20	42935537	42935537	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr20:42935537G>A	ENST00000396825.3	-	2	537	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	173					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						ACCTCATGCAGCACAGACATC	0.557000													3	38					0	0	0.004672	0	0
INPP5J	27124	broad.mit.edu	37	22	31529912	31529912	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr22:31529912C>T	ENST00000331075.5	+	13	2577	c.2528C>T	c.(2527-2529)tCc>tTc	p.S843F	INPP5J_ENST00000412277.2_Missense_Mutation_p.S776F|INPP5J_ENST00000405300.1_Missense_Mutation_p.S476F|INPP5J_ENST00000404390.3_Missense_Mutation_p.S475F|INPP5J_ENST00000400294.2_Missense_Mutation_p.S476F|INPP5J_ENST00000401755.1_Missense_Mutation_p.S208F|INPP5J_ENST00000404453.1_Missense_Mutation_p.S208F|INPP5J_ENST00000402238.1_Missense_Mutation_p.S182F			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	843	Ser-rich.					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						TCGCTGCCTTCCTCGGAGTTG	0.652000													6	12					0	0	0.047766	0	0
GRIA2	2891	broad.mit.edu	37	4	158242702	158242702	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:158242702C>T	ENST00000296526.7	+	6	1158	c.833C>T	c.(832-834)tCa>tTa	p.S278L	GRIA2_ENST00000393815.2_Missense_Mutation_p.S231L|GRIA2_ENST00000507898.1_Missense_Mutation_p.S231L|GRIA2_ENST00000449365.1_Missense_Mutation_p.S231L|GRIA2_ENST00000264426.9_Missense_Mutation_p.S278L	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	278					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.S278L(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GAAAGATGGTCAACACTGGAA	0.368000													10	91					0	0	0.069234	0	0
HUWE1	10075	broad.mit.edu	37	X	53674496	53674496	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:53674496C>T	ENST00000342160.3	-	5	623	c.166G>A	c.(166-168)Gac>Aac	p.D56N	HUWE1_ENST00000218328.8_Missense_Mutation_p.D56N|HUWE1_ENST00000262854.6_Missense_Mutation_p.D56N			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	56					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCAACAGGTCCACCCAGTGA	0.483000													19	229					0	0	0.049695	0	0
COX19	90639	broad.mit.edu	37	7	1015111	1015111	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:1015111A>T	ENST00000344111.3	-	1	124	c.35T>A	c.(34-36)tTc>tAc	p.F12Y		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	12						cytosol				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		CCGCGGCTGGAAGCTCTTGGT	0.701000													3	15					0	0	0.009096	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33065901	33065901	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:33065901G>A	ENST00000373510.4	+	5	1436	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	ZBTB8OS_ENST00000341885.5_Missense_Mutation_p.H62Y|RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GCACTTGAGTGAAGATGAGAA	0.423000													4	36					0	0	0.014758	0	0
CNPY2	10330	broad.mit.edu	37	12	56704786	56704786	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:56704786C>T	ENST00000273308.4	-	5	1001	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R154Q|RP11-977G19.11_ENST00000549565.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	154	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding	p.R154Q(1)		large_intestine(2)|lung(2)	4						GTCAGCCTCTCGGGAAAAGAA	0.478000													7	106					0	0	0.038147	0	0
SETD2	29072	broad.mit.edu	37	3	47164195	47164195	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:47164195T>A	ENST00000409792.3	-	3	1973	c.1931A>T	c.(1930-1932)gAt>gTt	p.D644V		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCATGGCTATCATGTGTTAT	0.313000			"""N, F, S, Mis"""		clear cell renal carcinoma								4	64					0	0	0.009096	0	0
LEPR	3953	broad.mit.edu	37	1	66067602	66067602	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:66067602C>T	ENST00000349533.6	+	10	1547	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	LEPR_ENST00000371058.1_Silent_p.I454I|LEPR_ENST00000371059.3_Silent_p.I454I|LEPR_ENST00000371060.3_Silent_p.I454I|LEPR_ENST00000344610.8_Silent_p.I454I|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	454					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CCAGTACAATCCAGTCACTTG	0.328000													11	74					0	0	0.069234	0	0
MAGI2	9863	broad.mit.edu	37	7	77885755	77885755	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:77885755C>T	ENST00000354212.4	-	10	1805	c.1552G>A	c.(1552-1554)Gac>Aac	p.D518N	MAGI2_ENST00000419488.1_Missense_Mutation_p.D518N|MAGI2_ENST00000536571.1_Missense_Mutation_p.D350N|MAGI2_ENST00000522391.1_Missense_Mutation_p.D518N|MAGI2_ENST00000535697.1_Missense_Mutation_p.D355N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	518						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTAGCAGGGTCTTCAGGATCA	0.473000													3	31					0	0	0.004672	0	0
MDH1B	130752	broad.mit.edu	37	2	207615717	207615717	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:207615717C>T	ENST00000374412.3	-	6	1268	c.993G>A	c.(991-993)gaG>gaA	p.E331E	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Silent_p.E331E|MDH1B_ENST00000449792.1_Silent_p.E233E	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	331					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AAATGGCACTCTCATATCTGT	0.353000													11	69					0	0	0.093190	0	0
OR51A2	401667	broad.mit.edu	37	11	4976751	4976751	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:4976751G>C	ENST00000380371.1	-	1	192	c.193C>G	c.(193-195)Ctt>Gtt	p.L65V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACATGGAAAGAAAATAGTAC	0.438000													10	68					0	0	0.058154	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675202	54675202	+	Silent	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:54675202C>G	ENST00000546500.1	+	2	663	c.48C>G	c.(46-48)ctC>ctG	p.L16L	RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000340913.6_Silent_p.L16L|HNRNPA1_ENST00000330752.8_Silent_p.L16L|HNRNPA1_ENST00000547276.1_Silent_p.L16L			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	16	Globular A domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGAGGAAGCTCTTCATTGGAG	0.493000													9	91					0	0	0.047766	0	0
EXD1	161829	broad.mit.edu	37	15	41476734	41476734	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr15:41476734G>A	ENST00000314992.5	-	10	1130	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	EXD1_ENST00000458580.2_Missense_Mutation_p.R372C	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	314					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTCTCCCTGCGCTGCTTCTGG	0.453000													24	65					0	0	0.083992	0	0
GZMA	3001	broad.mit.edu	37	5	54403737	54403737	+	Missense_Mutation	SNP	C	C	T	rs150441571	byFrequency	TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:54403737C>T	ENST00000274306.6	+	3	366	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	111	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CCCAGCCACACGCGAAGGTGA	0.443000													6	62					0	0	0.021553	0	0
RALYL	138046	broad.mit.edu	37	8	85785593	85785593	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:85785593C>T	ENST00000521268.1	+	7	1751	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	RALYL_ENST00000518566.1_Missense_Mutation_p.R205C|RALYL_ENST00000517638.1_Missense_Mutation_p.R229C|RALYL_ENST00000521695.1_Missense_Mutation_p.R216C|RALYL_ENST00000523850.1_Missense_Mutation_p.R143C|RALYL_ENST00000522455.1_Missense_Mutation_p.R216C|RALYL_ENST00000521376.1_Missense_Mutation_p.R127C	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	216							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CTTGCTAGGGCGCCTGGAGAA	0.423000													3	12					0	0	0.004672	0	0
ASAP1	50807	broad.mit.edu	37	8	131129204	131129204	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:131129204C>A	ENST00000357668.1	-	20	1945	c.1918G>T	c.(1918-1920)Gtt>Ttt	p.V640F	ASAP1_ENST00000518721.1_Missense_Mutation_p.V640F			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	640					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TAGTGTAGAACTGTGTTTCCC	0.383000													33	67					1.62565e-12	1.77015e-12	0.050027	1	0
SDK1	221935	broad.mit.edu	37	7	3991530	3991530	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:3991530G>A	ENST00000404826.2	+	7	1267	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	SDK1_ENST00000389531.3_Silent_p.A376A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	376	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGCCAGGGCGACGGCCTTTC	0.577000													3	32					0	0	0.009096	0	0
DDX60L	91351	broad.mit.edu	37	4	169300950	169300950	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:169300950G>C	ENST00000511577.1	-	31	4395	c.4148C>G	c.(4147-4149)tCt>tGt	p.S1383C	DDX60L_ENST00000260184.7_Missense_Mutation_p.S1383C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1383							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCTCTTAAAAGACAGCAATGA	0.323000													6	30					0	0	0.021553	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347664	140347664	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:140347664C>T	ENST00000289269.5	+	1	1845	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		438	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAACATCACGGTGACAGCC	0.552000													26	93					0	0	0.099896	0	0
DGKB	1607	broad.mit.edu	37	7	14378223	14378223	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:14378223C>T	ENST00000403951.2	-	23	2461	c.2042G>A	c.(2041-2043)cGa>cAa	p.R681Q	DGKB_ENST00000407950.1_Missense_Mutation_p.R673Q|DGKB_ENST00000406247.3_Missense_Mutation_p.R681Q|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.R680Q|DGKB_ENST00000258767.5_Missense_Mutation_p.R681Q|DGKB_ENST00000399322.3_Missense_Mutation_p.R681Q|DGKB_ENST00000444700.2_Missense_Mutation_p.R662Q			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	681					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.R681Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TCGATGGCTTCGTCTTTTCTT	0.398000													13	98					0	0	0.093190	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904513	144904513	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:144904513G>A	ENST00000370490.1	+	1	4825	c.570G>A	c.(568-570)ggG>ggA	p.G190G	SLITRK2_ENST00000428560.2_Silent_p.G190G|SLITRK2_ENST00000413937.2_Silent_p.G190G|SLITRK2_ENST00000434188.2_Silent_p.G190G|SLITRK2_ENST00000447897.2_Silent_p.G190G			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	190						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTCAGGGGGAATAGGCTAA	0.468000													11	144					0	0	0.080935	0	0
ADSSL1	122622	broad.mit.edu	37	14	105208279	105208279	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:105208279C>T	ENST00000332972.5	+	9	1176	c.1017C>T	c.(1015-1017)ggC>ggT	p.G339G	ADSSL1_ENST00000330877.2_Silent_p.G296G	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	296					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	ACGTGTATGGCGTGGTGAAAG	0.637000													4	99					0	0	0.009096	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150311256	150311256	+	RNA	SNP	C	C	A	rs140965541	by1000genomes	TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:150311256C>A	ENST00000520773.1	-	0	2065																											AGTATGAATTCTTTGATGTAT	0.383000													3	21					0.004672	0.00483651	0.004672	1	0
PACSIN2	11252	broad.mit.edu	37	22	43308053	43308053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr22:43308053C>A	ENST00000263246.3	-	2	235	c.34G>T	c.(34-36)Gaa>Taa	p.E12*	PACSIN2_ENST00000407585.1_Nonsense_Mutation_p.E12*|PACSIN2_ENST00000337959.4_Nonsense_Mutation_p.E12*|PACSIN2_ENST00000403744.3_Nonsense_Mutation_p.E12*|PACSIN2_ENST00000402229.1_Nonsense_Mutation_p.E12*	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	12	FCH.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CTGGACACTTCTACTCCAACG	0.468000													7	44					8.12818e-05	8.59599e-05	0.029380	1	0
NAB2	4665	broad.mit.edu	37	12	57485439	57485439	+	Silent	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:57485439G>C	ENST00000300131.3	+	2	993	c.615G>C	c.(613-615)tcG>tcC	p.S205S	NAB2_ENST00000357680.4_Silent_p.S205S|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Silent_p.S205S	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	205					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGCTGGCTCGCCCCCCTTCT	0.726000													6	35					0	0	0.058154	0	0
NOLC1	9221	broad.mit.edu	37	10	103917061	103917061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr10:103917061C>T	ENST00000405356.1	+	3	527	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	NOLC1_ENST00000488254.2_Nonsense_Mutation_p.Q99*|NOLC1_ENST00000603742.1_Intron|NOLC1_ENST00000605788.1_Nonsense_Mutation_p.Q98*			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	98	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GGAGGAAGTTCAAGGGCCTCC	0.517000													6	45					0	0	0.029380	0	0
OR52A5	390054	broad.mit.edu	37	11	5153246	5153246	+	Silent	SNP	G	G	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:5153246G>T	ENST00000307388.1	-	1	626	c.627C>A	c.(625-627)atC>atA	p.I209I		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.(=)(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAAACCCTAGGATTGCAAAGG	0.418000													7	53					2.0095e-06	2.15618e-06	0.029380	1	0
CA8	767	broad.mit.edu	37	8	61139461	61139461	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:61139461T>C	ENST00000317995.4	-	5	811	c.547A>G	c.(547-549)Act>Gct	p.T183A	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	183					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				AGGATTTCAGTCACAGCCTTC	0.363000													3	82					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179595271	179595271	+	Missense_Mutation	SNP	C	C	G	rs72648946	by1000genomes	TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:179595271C>G	ENST00000589042.1	-	61	18213	c.17989G>C	c.(17989-17991)Gca>Cca	p.A5997P	TTN_ENST00000591111.1_Missense_Mutation_p.A5680P|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A4753P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5680	Ig-like 41.						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)			TTGTGCCCTGCCTTATTTGTG	0.383000													13	113					0	0	0.105934	0	0
LRBA	987	broad.mit.edu	37	4	151392835	151392835	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:151392835C>T	ENST00000535741.1	-	43	7081	c.6608G>A	c.(6607-6609)cGa>cAa	p.R2203Q	LRBA_ENST00000507224.1_Missense_Mutation_p.R2203Q|LRBA_ENST00000510413.1_Missense_Mutation_p.R2203Q|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Missense_Mutation_p.R2214Q			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2214	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTGTTGCCATCGCTGGGTCAT	0.328000													11	100					0	0	0.020292	0	0
MAP4	4134	broad.mit.edu	37	3	47951012	47951012	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:47951012G>A	ENST00000426837.2	-	10	5037	c.4950C>T	c.(4948-4950)ctC>ctT	p.L1650L	MAP4_ENST00000360240.6_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000264724.11_Silent_p.L240L|MAP4_ENST00000395734.3_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	1007					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CACAAAAACTGAGCTTTTGTG	0.383000													30	198					0	0	0.045705	0	0
RYR1	6261	broad.mit.edu	37	19	38951142	38951142	+	Silent	SNP	C	C	A	rs142548565		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:38951142C>A	ENST00000355481.4	+	20	2619	c.2488C>A	c.(2488-2490)Cgg>Agg	p.R830R	RYR1_ENST00000360985.3_Silent_p.R830R|RYR1_ENST00000359596.3_Silent_p.R830R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	830					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R830W(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGTATCGACGGGAGGGGCC	0.632000													16	112					6.72482e-11	7.26874e-11	0.024245	1	0
MDN1	23195	broad.mit.edu	37	6	90440541	90440541	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr6:90440541G>A	ENST00000369393.3	-	35	5159	c.5044C>T	c.(5044-5046)Cag>Tag	p.Q1682*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.Q1682*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1682					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCATTTTTCTGATATTCTGTA	0.378000													6	42					0	0	0.029380	0	0
DPYS	1807	broad.mit.edu	37	8	105456608	105456608	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:105456608G>A	ENST00000351513.2	-	4	793	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	221					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCTCTGGGCGGCACAGCTCG	0.542000													6	56					0	0	0.021553	0	0
CFH	3075	broad.mit.edu	37	1	196712601	196712601	+	Silent	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:196712601G>A	ENST00000367429.4	+	20	3393	c.3153G>A	c.(3151-3153)ccG>ccA	p.P1051P		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1051	Sushi 18.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTGTGAATCCGCCCACAGTAC	0.368000													7	52					0	0	0.029380	0	0
GEMIN5	25929	broad.mit.edu	37	5	154287226	154287226	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr5:154287226C>G	ENST00000285873.7	-	16	2395	c.2320G>C	c.(2320-2322)Gag>Cag	p.E774Q		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	774					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACACCATTCTCAACAGGTCCT	0.498000													14	101					0	0	0.105934	0	0
KCNK9	51305	broad.mit.edu	37	8	140631260	140631260	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:140631260C>T	ENST00000520439.1	-	2	429	c.366G>A	c.(364-366)ctG>ctA	p.L122L	KCNK9_ENST00000303015.1_Silent_p.L122L			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	122						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGAACATGACCAGTGTCAGCG	0.597000													4	23					0	0	0.009096	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8656945	8656945	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:8656945C>G	ENST00000270328.4	-	13	1896	c.1630G>C	c.(1630-1632)Gag>Cag	p.E544Q	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.Q34H|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E544Q			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	544	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCACACCCTCTGGGCGCGAC	0.687000													3	19					0	0	0.004672	0	0
LRRK2	120892	broad.mit.edu	37	12	40704384	40704384	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:40704384C>T	ENST00000298910.7	+	31	4527	c.4469C>T	c.(4468-4470)gCc>gTc	p.A1490V		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1490	Roc.				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)				TTTGTGAATGCCACCGAGGAA	0.433000													4	171					0	0	0.014758	0	0
OR10G4	390264	broad.mit.edu	37	11	123887072	123887072	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:123887072T>C	ENST00000320891.4	+	1	791	c.791T>C	c.(790-792)aTg>aCg	p.M264T		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		CCAGGCTCCATGGATGCCATG	0.517000													18	55					0	0	0.038395	0	0
STX18	53407	broad.mit.edu	37	4	4543567	4543567	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr4:4543567C>T	ENST00000306200.2	-	1	188	c.125G>A	c.(124-126)aGc>aAc	p.S42N	STX18_ENST00000505286.1_Missense_Mutation_p.S42N	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	42					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		GGGCCGGGGGCTCCGGCGGAA	0.701000													3	18					0	0	0.009096	0	0
SCEL	8796	broad.mit.edu	37	13	78214885	78214885	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr13:78214885A>G	ENST00000535157.1	+	29	1957	c.1787A>G	c.(1786-1788)gAa>gGa	p.E596G	SCEL_ENST00000349847.3_Missense_Mutation_p.E638G|SCEL_ENST00000377246.3_Missense_Mutation_p.E618G	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	638					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ATTTTAGATGAATTACAAATT	0.279000													7	93					0	0	0.047766	0	0
PDAP1	11333	broad.mit.edu	37	7	98998040	98998040	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:98998040C>T	ENST00000350498.3	-	4	501	c.221G>A	c.(220-222)cGc>cAc	p.R74H		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	74					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	AACGCCTTTGCGCTTTTGCTA	0.557000													7	35					0	0	0.029380	0	0
LIN28B	389421	broad.mit.edu	37	6	105526438	105526438	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr6:105526438G>A	ENST00000345080.4	+	4	736	c.533G>A	c.(532-534)gGa>gAa	p.G178E		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	178					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AGTTCTCAGGGAAGACAGGAA	0.547000													3	26					0	0	0.004672	0	0
SI	6476	broad.mit.edu	37	3	164724661	164724661	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr3:164724661A>C	ENST00000264382.3	-	37	4411	c.4349T>G	c.(4348-4350)gTt>gGt	p.V1450G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1450	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTAATGCAAAACTGATGTTCC	0.358000										HNSCC(35;0.089)			10	32					0	0	0.069234	0	0
TMEM246	84302	broad.mit.edu	37	9	104239327	104239327	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr9:104239327C>T	ENST00000374851.1	-	4	1195	c.48G>A	c.(46-48)cgG>cgA	p.R16R	TMEM246_ENST00000374848.3_Silent_p.R16R|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374847.1_Silent_p.R16R|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	16						integral to membrane											AGGAGAGTCGCCGCAGCCTCC	0.562000													9	33					0	0	0.058154	0	0
SVEP1	79987	broad.mit.edu	37	9	113171187	113171187	+	Silent	SNP	A	A	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr9:113171187A>G	ENST00000401783.2	-	38	7029	c.6693T>C	c.(6691-6693)tgT>tgC	p.C2231C	SVEP1_ENST00000297826.5_Silent_p.C157C|SVEP1_ENST00000374469.1_Silent_p.C2208C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2231	Sushi 14.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGCCCGGGTTACACTGATACC	0.473000													28	132					0	0	0.034045	0	0
MIR320A	407037	broad.mit.edu	37	8	22102500	22102500	+	RNA	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:22102500C>T	ENST00000385302.1	-	0	56					NR_029714.1																						GCCCTCTCAACCCAGCTTTTC	0.647000													9	48					0	0	0.069234	0	0
SAFB	6294	broad.mit.edu	37	19	5667168	5667168	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr19:5667168C>G	ENST00000292123.5	+	18	2553	c.2446C>G	c.(2446-2448)Ccc>Gcc	p.P816A	SAFB_ENST00000454510.1_Missense_Mutation_p.P747A|SAFB_ENST00000588852.1_Missense_Mutation_p.P816A|SAFB_ENST00000538656.1_Missense_Mutation_p.P658A|SAFB_ENST00000592224.1_Missense_Mutation_p.P815A|SAFB_ENST00000433404.1_Missense_Mutation_p.P646A	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	816	Arg-rich.|Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GCTGCCTCCTCCCCCCAGGTT	0.697000													3	22					0	0	0.004672	0	0
MYCBP2	23077	broad.mit.edu	37	13	77759426	77759426	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr13:77759426C>G	ENST00000407578.2	-	32	4797	c.4531G>C	c.(4531-4533)Gaa>Caa	p.E1511Q	MYCBP2_ENST00000544440.2_Missense_Mutation_p.E1473Q|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E1473Q	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCAACTCCTTCTGATAAAATT	0.378000													14	366					0	0	0.105934	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220567	118220567	+	Silent	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:118220567T>C	ENST00000402510.2	-	11	4625	c.4626A>G	c.(4624-4626)caA>caG	p.Q1542Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1542										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCCTGCTCTGTTGCTTATCTG	0.498000													16	94					0	0	0.043863	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73020920	73020920	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr11:73020920T>C	ENST00000263674.3	+	1	1587	c.1237T>C	c.(1237-1239)Tgg>Cgg	p.W413R		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	413					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TTCTGGGGGCTGGGGCGTGTA	0.652000													6	42					0	0	0.029380	0	0
MROH9	80133	broad.mit.edu	37	1	170952646	170952646	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr1:170952646T>G	ENST00000367759.4	+	9	854	c.700T>G	c.(700-702)Ttt>Gtt	p.F234V	MROH9_ENST00000367758.3_Missense_Mutation_p.F234V	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		ACCCAAGGAGTTTCAACAAGA	0.358000													6	21					0	0	0.021553	0	0
GRM3	2913	broad.mit.edu	37	7	86415655	86415655	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:86415655C>T	ENST00000361669.2	+	3	1646	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R183C|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.R181C|GRM3_ENST00000536043.1_Missense_Mutation_p.R55C	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	183					synaptic transmission	integral to plasma membrane		p.R183C(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGATAAGTCGCGCTATGATTA	0.562000													45	74					0	0	0.045515	0	0
MAVS	57506	broad.mit.edu	37	20	3844977	3844977	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr20:3844977A>C	ENST00000428216.2	+	6	828	c.700A>C	c.(700-702)Acc>Ccc	p.T234P	MAVS_ENST00000416600.2_Missense_Mutation_p.T93P|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	234					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGCCCGTTCCACCCCCAGGGC	0.632000													8	73					0	0	0.030593	0	0
GPR64	10149	broad.mit.edu	37	X	19014210	19014210	+	Missense_Mutation	SNP	C	C	T	rs142899178	byFrequency	TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chrX:19014210C>T	ENST00000379878.3	-	26	2868	c.2627G>A	c.(2626-2628)cGg>cAg	p.R876Q	GPR64_ENST00000379873.2_Missense_Mutation_p.R892Q|GPR64_ENST00000357544.3_Missense_Mutation_p.R862Q|GPR64_ENST00000379876.1_Missense_Mutation_p.R868Q|GPR64_ENST00000340581.3_Missense_Mutation_p.R773Q|GPR64_ENST00000360279.4_Missense_Mutation_p.R870Q|GPR64_ENST00000354791.3_Missense_Mutation_p.R876Q|GPR64_ENST00000357991.3_Missense_Mutation_p.R889Q|GPR64_ENST00000356606.4_Missense_Mutation_p.R878Q|GPR64_ENST00000379869.3_Missense_Mutation_p.R892Q	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	892					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					ACAAAGATACCGCCTCCATTG	0.363000													20	186					0	0	0.076483	0	0
FAM71F2	346653	broad.mit.edu	37	7	128317777	128317777	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:128317777G>C	ENST00000480462.1	+	3	631	c.525G>C	c.(523-525)caG>caC	p.Q175H	FAM71F2_ENST00000378704.3_Missense_Mutation_p.Q166H|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Intron			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	175										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						AAATTCTGCAGAAAGGCCTGT	0.488000													4	43					0	0	0.009096	0	0
CHRNA2	1135	broad.mit.edu	37	8	27319264	27319264	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:27319264T>C	ENST00000407991.1	-	7	2080	c.1472A>G	c.(1471-1473)gAg>gGg	p.E491G	CHRNA2_ENST00000520933.2_Missense_Mutation_p.E491G|CHRNA2_ENST00000240132.2_Missense_Mutation_p.E476G	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	491						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	CTTCCAGTCCTCCTTCACCTG	0.592000													3	61					0	0	0.009096	0	0
EGFR	1956	broad.mit.edu	37	7	55220268	55220268	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:55220268T>C	ENST00000275493.2	+	6	835	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P	EGFR_ENST00000342916.3_Missense_Mutation_p.S220P|EGFR_ENST00000442591.1_Missense_Mutation_p.S220P|EGFR_ENST00000454757.2_Missense_Mutation_p.S167P|EGFR_ENST00000420316.2_Missense_Mutation_p.S220P|EGFR_ENST00000455089.1_Missense_Mutation_p.S175P|EGFR_ENST00000344576.2_Missense_Mutation_p.S220P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	220					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCAGCAGTGCTCCGGGCGCTG	0.597000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5	589					0	0	0.029380	0	0
C12orf50	160419	broad.mit.edu	37	12	88420320	88420320	+	Silent	SNP	G	G	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr12:88420320G>T	ENST00000298699.2	-	3	258	c.78C>A	c.(76-78)atC>atA	p.I26I	C12orf50_ENST00000550553.1_Silent_p.I26I	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	26										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGTGATAAAAGATACAGCTGA	0.363000													6	39					0.0215528	0.0220018	0.021553	1	0
TSHZ2	128553	broad.mit.edu	37	20	51871898	51871898	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr20:51871898T>C	ENST00000371497.5	+	2	2788	c.1901T>C	c.(1900-1902)tTc>tCc	p.F634S	TSHZ2_ENST00000329613.6_Missense_Mutation_p.F631S|TSHZ2_ENST00000603338.2_Missense_Mutation_p.F631S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	634					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGCGATTCTTTCCGCAAAAGT	0.517000													20	92					0	0	0.049695	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													3	103					0	0	0.004672	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489551	133489551	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:133489551C>T	ENST00000409261.1	-	17	5575	c.5202G>A	c.(5200-5202)tcG>tcA	p.S1734S	NCKAP5_ENST00000317721.6_Silent_p.S1734S|NCKAP5_ENST00000409213.1_Silent_p.S415S|NCKAP5_ENST00000405974.3_Silent_p.S415S|NCKAP5_ENST00000473859.1_5'UTR	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1734							protein binding	p.S254S(1)|p.S1734S(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGCGTCCTGTCGAGCGATTTC	0.547000													4	35					0	0	0.009096	0	0
NRDE2	55051	broad.mit.edu	37	14	90756719	90756719	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr14:90756719C>T	ENST00000354366.3	-	10	2307	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	NRDE2_ENST00000357904.3_Missense_Mutation_p.R461H	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CCTATCCATGCGGCCAACACA	0.488000													3	36					0	0	0.004672	0	0
KIAA2026	158358	broad.mit.edu	37	9	5923143	5923143	+	Silent	SNP	C	C	T			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr9:5923143C>T	ENST00000399933.3	-	8	2852	c.2853G>A	c.(2851-2853)aaG>aaA	p.K951K	KIAA2026_ENST00000381461.2_Silent_p.K921K	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	951										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ACTTTGCCTTCTTCCTTGGAG	0.388000													16	149					0	0	0.024245	0	0
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6775133	6775133	+	RNA	DEL	T	T	-	rs138405905		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr7:6775133delT	ENST00000486256.1	+	0	833					NR_002217.1																						GTCATGTAAGTTTTTTTTTTT	0.403													2	4	---	---	---	---					
POTEA	340441	broad.mit.edu	37	8	43216290	43216290	+	RNA	DEL	A	A	-			TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr8:43216290delA	ENST00000522175.2	+	0	1543							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAAGTGGCCGAAAAAAAAATG	0.284													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578183	7578184	+	Frame_Shift_Ins	INS	-	-	GGCT	rs72661118		TCGA-DQ-5624-01A-01D-1870-08	TCGA-DQ-5624-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01282192-5bb6-44d6-bbc7-33a42eba416b	9e114c4e-112f-48f3-8420-e7f4170b1221	g.chr17:7578183_7578184insGGCT	ENST00000420246.2	-	6	797_798	c.665_666insAGCC	c.(664-666)cccfs	p.-221fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.-221fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.-221fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.-221fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.-221fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.-221fs	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.?(11)|p.0?(8)|p.P222P(5)|p.P222L(5)|p.P223fs*1(3)|p.Y220_P223delYEPP(1)|p.P130fs*1(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.P222Q(1)|p.P222fs*24(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)		AGACCTCAGGCGGCTCATAGGG	0.554		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)			7	14	---	---	---	---