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
BTN2A3P	0	broad.mit.edu	37	6	26426723	26426723	+	RNA	SNP	G	G	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:26426723G>C	ENST00000466808.2	+	0	1039																											TGCTCGGCCAGAAGAAAGAAA	0.512000													39	385					0	0	1	0	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													9	462					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													4	142					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145311839	145311839	+	Missense_Mutation	SNP	A	A	T	rs58277049		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:145311839A>T	ENST00000369338.1	+	10	1278	c.1088A>T	c.(1087-1089)cAg>cTg	p.Q363L	NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000342960.5_Intron			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	636										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGGACTCACAGGATAGATGT	0.473000													5	167					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179989793	179989793	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:179989793G>C	ENST00000367607.3	+	12	3302	c.2884G>C	c.(2884-2886)Gat>Cat	p.D962H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	962						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTCTAGCTCTGATATGCAAGC	0.468000													66	348					0	0	1	0	0
AC068831.10	0	broad.mit.edu	37	15	91573251	91573251	+	RNA	SNP	T	T	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr15:91573251T>C	ENST00000557804.1	+	0	243				AC068831.10_ENST00000556904.1_RNA|AC068831.10_ENST00000501381.3_RNA																							GATACATCTATGATATACATG	0.353000													7	68					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35317808	35317808	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:35317808G>A	ENST00000374748.1	-	17	1860	c.1547C>T	c.(1546-1548)gCg>gTg	p.A516V	CUL2_ENST00000602371.1_Missense_Mutation_p.A459V|CUL2_ENST00000374742.1_Missense_Mutation_p.A516V|CUL2_ENST00000374751.3_Missense_Mutation_p.A516V|CUL2_ENST00000537177.1_Missense_Mutation_p.A535V|CUL2_ENST00000374746.1_Missense_Mutation_p.A516V|CUL2_ENST00000374749.3_Missense_Mutation_p.A516V			Q13617	CUL2_HUMAN	cullin 2	516					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAGAGGCCACGCACCAGCCTA	0.318000													18	127					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608	by1000genomes	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	704					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657000													6	80					0	0	1	0	0
PCDHGB1	0	broad.mit.edu	37	5	140729951	140729951	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:140729951G>A	ENST00000523390.1	+	1	124	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGCCAACGGCTCACGGGT	0.527000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	92					0	0	1	0	0
SEC13	6396	broad.mit.edu	37	3	10354280	10354280	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:10354280G>A	ENST00000397117.1	-	4	848	c.257C>T	c.(256-258)gCg>gTg	p.A86V	SEC13_ENST00000337354.4_Missense_Mutation_p.A103V|SEC13_ENST00000397109.3_Missense_Mutation_p.A86V|SEC13_ENST00000350697.3_Missense_Mutation_p.A100V|SEC13_ENST00000383801.2_Missense_Mutation_p.A146V			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	100					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						GTCGTGTCCCGCATGCTCGTG	0.592000													6	417					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													5	188					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26743709	26743709	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr22:26743709C>T	ENST00000529632.2	+	11	2433	c.2237C>T	c.(2236-2238)tCg>tTg	p.S746L	SEZ6L_ENST00000404234.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S746L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.S519L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S519L|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000248933.6_Missense_Mutation_p.S746L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	746	Sushi 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GACTCCTGCTCGGATTTACCC	0.517000													29	223					0	0	1	0	0
DEFB119	245932	broad.mit.edu	37	20	29978252	29978252	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:29978252A>G	ENST00000339144.3	-	1	141	c.35T>C	c.(34-36)cTg>cCg	p.L12P	DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000376321.3_Missense_Mutation_p.L12P|DEFB119_ENST00000376315.2_Missense_Mutation_p.L12P			Q8N690	DB119_HUMAN	defensin, beta 119	12					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTCTATGGCCAGAAGGATGGC	0.547000													46	352					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037148	129037148	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:129037148G>A	ENST00000274487.4	+	20	3149	c.3004G>A	c.(3004-3006)Gcc>Acc	p.A1002T	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1002	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAGACAAGTGGCCTGTACCCA	0.532000													32	262					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29822208	29822208	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:29822208G>A	ENST00000375398.2	-	10	1537	c.1088C>T	c.(1087-1089)cCa>cTa	p.P363L	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.P363L			O95425	SVIL_HUMAN	supervillin	363					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCCACGGATTGGCTGTCGTGT	0.557000													24	242					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839311	15839311	+	Missense_Mutation	SNP	C	C	T	rs139469467		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:15839311C>T	ENST00000305899.3	+	1	478	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCTGGTGGCTCGGTCATGGGG	0.592000													5	257					0	0	1	0	0
PAX6	5080	broad.mit.edu	37	11	31823124	31823124	+	Silent	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:31823124G>A	ENST00000419022.1	-	7	852	c.384C>T	c.(382-384)aaC>aaT	p.N128N	PAX6_ENST00000379115.4_Silent_p.N128N|PAX6_ENST00000241001.8_Silent_p.N114N|PAX6_ENST00000379111.2_Silent_p.N114N|PAX6_ENST00000379123.5_Silent_p.N114N|PAX6_ENST00000379129.2_Silent_p.N128N|PAX6_ENST00000379107.2_Silent_p.N128N|PAX6_ENST00000379132.3_Silent_p.N114N	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	114	Paired.		R -> C (in FOVHYP; isolated).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GTATGTTATCGTTGGTACAGA	0.512000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				30	253					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													10	560					0	0	1	0	0
HSD17B12	51144	broad.mit.edu	37	11	43852525	43852525	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:43852525G>T	ENST00000278353.4	+	7	620		c.e7-1		RP11-613D13.5_ENST00000499066.2_RNA|HSD17B12_ENST00000529261.1_Splice_Site	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12						long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						CTCTCTTGCAGATGACACAAT	0.428000													26	270					3.11337e-16	3.67944e-16	1	1	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													6	175					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000													19	72					0	0	1	0	0
UGP2	7360	broad.mit.edu	37	2	64117237	64117237	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:64117237T>C	ENST00000337130.5	+	9	1813	c.1337T>C	c.(1336-1338)tTt>tCt	p.F446S	UGP2_ENST00000394417.2_Missense_Mutation_p.F435S|UGP2_ENST00000467648.2_Missense_Mutation_p.F435S|UGP2_ENST00000445915.2_Missense_Mutation_p.F455S	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	446					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CTAAGAAGATTTGAAAGTATA	0.303000													21	165					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:1266085C>G	ENST00000447027.1	+	31	8042	c.7984C>G	c.(7984-7986)Ccc>Gcc	p.P2662A	MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617000													4	188					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													3	36					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120770369	120770369	+	Silent	SNP	A	A	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:120770369A>G	ENST00000378164.2	-	21	3010	c.2712T>C	c.(2710-2712)taT>taC	p.Y904Y	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	904					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCAGTTCTTCATAACTTCTGT	0.289000													42	397					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186																											GTCCAACCTGCACTCGCGTGG	0.602000													11	39					0	0	1	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190779	39190779	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:39190779T>C	ENST00000344363.5	-	1	328	c.295A>G	c.(295-297)Agt>Ggt	p.S99G		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	109						extracellular region|keratin filament	structural constituent of epidermis	p.S99G(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACAGCTCCACTGCTGCCCTCC	0.652000													5	127					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48367243	48367243	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:48367243C>T	ENST00000380518.3	-	54	4575	c.4411G>A	c.(4411-4413)Gga>Aga	p.G1471R	COL2A1_ENST00000337299.6_Missense_Mutation_p.G1402R|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1471	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCGGGCCCTCCTATGTCCATG	0.527000													37	379					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36383988	36383988	+	Silent	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:36383988G>A	ENST00000373204.4	+	17	2442	c.2229G>A	c.(2227-2229)gaG>gaA	p.E743E	AGO1_ENST00000373206.1_Silent_p.E668E	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		ACCCATTTGAGTTTGACTTCT	0.478000													15	735					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141044614	141044614	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:141044614G>A	ENST00000239440.4	-	19	2740	c.2675C>T	c.(2674-2676)aCg>aTg	p.T892M	ARAP3_ENST00000513878.1_Missense_Mutation_p.T554M|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.T794M	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	892					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GTTCCATGCCGTGAAGTCCAG	0.657000											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	142					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													7	424					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32783787	32783787	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:32783787A>T	ENST00000380250.3	+	33	4837	c.4341A>T	c.(4339-4341)aaA>aaT	p.K1447N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACAATGAGAAATGGAGCAACA	0.463000													58	290					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14280893	14280893	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:14280893G>T	ENST00000341243.5	+	1	121		c.e1+1		MKL2_ENST00000572567.1_Splice_Site|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000571589.1_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2						cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCAAGGAAGGTCAGTCTGTC	0.478000													5	64					0.000602214	0.000626303	1	1	0
ATP1A2	477	broad.mit.edu	37	1	160098814	160098814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:160098814C>T	ENST00000361216.3	+	10	1350	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.R421*|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	421					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGCCCTGTCTCGAATTGCTGG	0.562000													7	77					0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55672738	55672738	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:55672738C>T	ENST00000527223.2	-	7	917	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	DNAAF3_ENST00000391720.4_Missense_Mutation_p.V285I|DNAAF3_ENST00000524407.2_Missense_Mutation_p.V238I|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Missense_Mutation_p.V184I	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	238																	TCAAAGGCGACGCCTGTGTCC	0.657000													10	99					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731000													5	132					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88365930	88365930	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:88365930G>A	ENST00000518476.1	+	10	1270	c.1219G>A	c.(1219-1221)Gtc>Atc	p.V407I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	407								p.V407I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGAGATTAGCGTCCTTCTTCA	0.323000													20	134					0	0	1	0	0
KLC2	64837	broad.mit.edu	37	11	66034032	66034032	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:66034032T>A	ENST00000394065.2	+	13	2457	c.1439T>A	c.(1438-1440)cTc>cAc	p.L480H	KLC2_ENST00000421552.1_Intron|KLC2_ENST00000417856.1_Intron|KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394067.2_Intron|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000316924.5_Intron			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	0					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAAGCTTCCCTCCAGCATGCC	0.647000													10	129					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736000													5	127					0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52695732	52695732	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:52695732C>A	ENST00000293525.5	+	1	84	c.32C>A	c.(31-33)gCc>gAc	p.A11D	KRT86_ENST00000423955.2_Missense_Mutation_p.A11D|KRT86_ENST00000544024.1_Missense_Mutation_p.A11D	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	11	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTGGCCGCGCCTTCAGCTGC	0.667000													7	393					0.00198382	0.0020468	1	1	0
SON	6651	broad.mit.edu	37	21	34922087	34922087	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr21:34922087G>T	ENST00000356577.4	+	3	1025	c.550G>T	c.(550-552)Gca>Tca	p.A184S	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.A184S|SON_ENST00000381679.4_Missense_Mutation_p.A184S|SON_ENST00000290239.6_Missense_Mutation_p.A184S	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	184					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGAATCCCCTGCAGTTGTGCT	0.448000											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	36	278					2.91434e-09	3.29447e-09	1	1	0
GPX5	2880	broad.mit.edu	37	6	28501886	28501886	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:28501886C>T	ENST00000412168.2	+	5	697	c.608C>T	c.(607-609)aCg>aTg	p.T203M	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	203					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CACCGGGCTACGGTCAGCTCA	0.522000													34	277					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	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													16	170					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			14	123					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285438	16285438	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:16285438C>G	ENST00000302182.3	+	2	609	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V	UBB_ENST00000535788.1_Missense_Mutation_p.L73V|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Missense_Mutation_p.L73V|UBB_ENST00000395837.1_Missense_Mutation_p.L73V	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	73	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		GGTCCTGCGTCTGAGAGGTGG	0.547000													39	275					0	0	1	0	0
ARNTL	406	broad.mit.edu	37	11	13408297	13408297	+	Silent	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:13408297G>T	ENST00000401424.1	+	20	2272	c.1746G>T	c.(1744-1746)ccG>ccT	p.P582P	ARNTL_ENST00000403482.3_Silent_p.P623P|ARNTL_ENST00000389707.4_Silent_p.P624P|ARNTL_ENST00000396441.3_Silent_p.P624P|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000361003.4_Silent_p.P507P|ARNTL_ENST00000403290.1_Silent_p.P625P|ARNTL_ENST00000403510.3_Silent_p.P581P	NM_001030273.1	NP_001025444.1	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	625					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TGCCATGGCCGCTGTAAACAC	0.468000													28	305					1.7367e-05	1.83553e-05	1	1	0
MYH15	22989	broad.mit.edu	37	3	108110745	108110745	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:108110745C>A	ENST00000273353.3	-	38	5408	c.5352G>T	c.(5350-5352)aaG>aaT	p.K1784N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1784						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGGTGTCTTGCTTCTTCTTCA	0.428000													59	487					5.82218e-30	7.07368e-30	1	1	0
AC024560.3	0	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													7	335					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21846540	21846540	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:21846540G>A	ENST00000434536.1	+	16	1943	c.1841G>A	c.(1840-1842)cGt>cAt	p.R614H	XPO7_ENST00000252512.9_Missense_Mutation_p.R605H|XPO7_ENST00000433566.4_Missense_Mutation_p.R606H			Q9UIA9	XPO7_HUMAN	exportin 7	605					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TACTGGGGCCGTTGTGAACCA	0.448000													11	101					0	0	1	0	0
AC226119.5	0	broad.mit.edu	37	4	3954855	3954855	+	RNA	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:3954855G>T	ENST00000281228.8	-	0	143				FAM86EP_ENST00000313946.8_RNA																							AAAATATCCCGCCGCAGCTCA	0.493000													6	266					0.00621372	0.00626188	1	1	0
TCF4	6925	broad.mit.edu	37	18	53017618	53017618	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr18:53017618C>T	ENST00000354452.3	-	8	1132	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	TCF4_ENST00000564999.1_Missense_Mutation_p.R174Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R150Q|TCF4_ENST00000564403.2_Missense_Mutation_p.R174Q|TCF4_ENST00000566286.1_Missense_Mutation_p.R172Q|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000568740.1_Missense_Mutation_p.R149Q|TCF4_ENST00000561992.1_Missense_Mutation_p.R44Q|TCF4_ENST00000570177.2_Missense_Mutation_p.R44Q|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000565018.2_Missense_Mutation_p.R174Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R44Q|TCF4_ENST00000537578.1_Missense_Mutation_p.R150Q|TCF4_ENST00000568673.1_Missense_Mutation_p.R150Q|TCF4_ENST00000356073.4_Missense_Mutation_p.R174Q|TCF4_ENST00000564228.1_Missense_Mutation_p.R103Q|TCF4_ENST00000544241.2_Missense_Mutation_p.R103Q|TCF4_ENST00000398339.1_Missense_Mutation_p.R276Q|TCF4_ENST00000543082.1_Missense_Mutation_p.R132Q	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	174					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGAACTTTTCGAACTTTCTT	0.368000													24	122					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	99045355	99045355	+	Silent	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:99045355C>T	ENST00000254898.5	+	17	2898	c.2667C>T	c.(2665-2667)gaC>gaT	p.D889D	MATN2_ENST00000524308.1_Silent_p.D848D|MATN2_ENST00000522025.2_Silent_p.D605D|MATN2_ENST00000521689.1_Silent_p.D870D|MATN2_ENST00000520016.1_Silent_p.D889D|RPL30_ENST00000518164.1_Intron	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	889						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TTGAAGAAGACAATCTTTTAC	0.358000													3	49					0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182027016	182027016	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:182027016C>T	ENST00000339948.3	-	2	337	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCCTCTTTTTCGGCCTCCCCA	0.577000													38	279					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43847747	43847747	+	Missense_Mutation	SNP	C	C	T	rs150619594		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:43847747C>T	ENST00000389420.3	-	12	1722	c.1723G>A	c.(1723-1725)Gga>Aga	p.G575R	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G575R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	575	TSP type-1 1.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTTCGATTCCGCCTCCACAT	0.418000													4	51					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072532	197072532	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:197072532G>A	ENST00000367409.4	-	18	6105	c.5849C>T	c.(5848-5850)gCg>gTg	p.A1950V	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1950	IQ 12.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CACCAGTACCGCATGACGGAG	0.393000													7	613					0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105150764	105150764	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:105150764G>T	ENST00000303694.5	+	3	681	c.242G>T	c.(241-243)cGg>cTg	p.R81L	CHST11_ENST00000549260.1_Missense_Mutation_p.R76L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	81					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CACCAGATGCGGCGGGACCAG	0.567000													21	239					5.26018e-13	6.05153e-13	1	1	0
SNX2	6643	broad.mit.edu	37	5	122163297	122163297	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:122163297G>A	ENST00000379516.2	+	14	1573	c.1465G>A	c.(1465-1467)Gtt>Att	p.V489I	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.V372I	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	489					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	p.V489I(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TTTTAAAACCGTTATCATCAA	0.299000													14	135					0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395482	49395482	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:49395482G>C	ENST00000419783.1	-	1	551	c.230C>G	c.(229-231)cCg>cGg	p.P77R	GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	77					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CTGGTTGCACGGGAAGCCGAG	0.726000													4	96					0	0	1	0	0
CSAG4	0	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													7	296					0.00307968	0.00315243	1	1	0
MZF1	7593	broad.mit.edu	37	19	59073841	59073841	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:59073841C>G	ENST00000215057.2	-	6	2363	c.1803G>C	c.(1801-1803)gaG>gaC	p.E601D	MZF1_ENST00000599369.1_Missense_Mutation_p.E601D|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_3'UTR	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	601					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCTGGCCACACTCGGGGCAGG	0.662000													9	52					0	0	1	0	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													5	70					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479899	4479899	+	Silent	SNP	G	G	A	rs145147639		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:4479899G>A	ENST00000237837.1	-	3	511	c.366C>T	c.(364-366)aaC>aaT	p.N122N		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	122					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTCGTACCCGTTTTCCAGCG	0.607000													62	463					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510911	48510911	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:48510911C>A	ENST00000446524.1	+	1	643	c.567C>A	c.(565-567)gaC>gaA	p.D189E		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCTGCACTGACACCCATGCTA	0.438000													41	475					9.62906e-15	1.12773e-14	1	1	0
ANKRD24	170961	broad.mit.edu	37	19	4219626	4219626	+	Silent	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:4219626C>T	ENST00000600132.1	+	19	3318	c.3042C>T	c.(3040-3042)caC>caT	p.H1014H	ANKRD24_ENST00000318934.4_Silent_p.H1014H|ANKRD24_ENST00000262970.5_Silent_p.H1104H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1014										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGAGCGACACGCAGCCGAGG	0.652000													43	345					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20801641	20801641	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:20801641G>A	ENST00000359062.3	+	13	2625	c.2585G>A	c.(2584-2586)cGt>cAt	p.R862H	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	862	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TATAACGATCGTTCAGTTTTG	0.363000													39	338					0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65408965	65408965	+	Silent	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:65408965C>T	ENST00000394224.3	+	2	869	c.573C>T	c.(571-573)aaC>aaT	p.N191N	SIPA1_ENST00000394227.3_Silent_p.N191N|SIPA1_ENST00000527525.1_Silent_p.N191N|SIPA1_ENST00000534313.1_Silent_p.N191N	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	191					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CACTGCCCAACGCGGCCGTGT	0.637000													27	270					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	299380	299380	+	Silent	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:299380G>T	ENST00000390665.3	-	12	1554	c.1536C>A	c.(1534-1536)atC>atA	p.I512I		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	512					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGCCACCAGGATGTCGTACT	0.692000													8	110					5.18039e-06	5.61209e-06	1	1	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													6	299					0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140866041	140866041	+	Missense_Mutation	SNP	G	G	A	rs79933965		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:140866041G>A	ENST00000310546.2	+	3	1496	c.752G>A	c.(751-753)cGc>cAc	p.R251H	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	251	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCCCTGGGCCGCCAGCGCCTG	0.617000													15	181					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622673	38622673	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:38622673C>T	ENST00000413689.1	-	17	3170	c.2977G>A	c.(2977-2979)Gca>Aca	p.A993T	SCN5A_ENST00000443581.1_Missense_Mutation_p.A993T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A993T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A993T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A993T|SCN5A_ENST00000333535.4_Missense_Mutation_p.A993T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A993T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A993T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A993T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A993T	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	993					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCAAGGGCTGCGGGCTTCTGA	0.692000													10	68					0	0	1	0	0
LRRC45	201255	broad.mit.edu	37	17	79983019	79983019	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:79983019T>G	ENST00000306688.3	+	4	839	c.497T>G	c.(496-498)cTa>cGa	p.L166R	LRRC45_ENST00000583383.1_3'UTR	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	166						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GAGCTGGCCCTAGCCCTGAAG	0.687000													10	73					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R					ankyrin repeat domain 36C									p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383000													3	77					0	0	1	0	0
FOXD3	27022	broad.mit.edu	37	1	63789346	63789346	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:63789346C>T	ENST00000371116.2	+	1	617	c.617C>T	c.(616-618)cCg>cTg	p.P206L	RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	206					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCCGCGAGCCGGGCAACCCG	0.632000													66	525					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													10	560					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	276					0	0	1	0	0
FGFBP1	9982	broad.mit.edu	37	4	15938187	15938187	+	Silent	SNP	C	C	T	rs11550451		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:15938187C>T	ENST00000382333.1	-	3	363	c.69G>A	c.(67-69)ggG>ggA	p.G23G	FGFBP1_ENST00000259988.2_Silent_p.G23G	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	23					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CTTTTTTTTTCCCCTCCACCA	0.517000													7	382					0	0	1	0	0
PCDHGA3	0	broad.mit.edu	37	5	140725483	140725483	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:140725483C>T	ENST00000253812.6	+	1	1883	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGCGCACGGCGCGAGCC	0.697000													30	274					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			7	79					0.00621372	0.00626188	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													19	266					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140637837	140637837	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr9:140637837G>T	ENST00000460843.1	+	5	865	c.838G>T	c.(838-840)Gtt>Ttt	p.V280F	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.V249F|EHMT1_ENST00000462484.1_Missense_Mutation_p.V280F	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	280					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.V249F(2)|p.V280F(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		cttgccttttgttttAGCAGC	0.358000													11	110					1.08611e-07	1.19656e-07	1	1	0
KCNIP2	30819	broad.mit.edu	37	10	103590842	103590842	+	Silent	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:103590842G>A	ENST00000358038.3	-	2	507	c.156C>T	c.(154-156)ccC>ccT	p.P52P	KCNIP2_ENST00000461105.1_Silent_p.P52P|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000356640.2_Silent_p.P52P|KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000353068.3_Intron|KCNIP2_ENST00000348850.5_Intron	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	52					clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CACTGACTGAGGGCAGGGCTT	0.637000													13	82					0	0	1	0	0
AC226119.5	0	broad.mit.edu	37	4	3954857	3954857	+	RNA	SNP	C	C	A	rs17410899		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:3954857C>A	ENST00000281228.8	-	0	141				FAM86EP_ENST00000313946.8_RNA																							AATATCCCGCCGCAGCTCAGA	0.488000													6	270					1.76689e-08	1.96322e-08	1	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													7	571					0	0	1	0	0
BTN3A1	0	broad.mit.edu	37	6	26406286	26406286	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:26406286T>C	ENST00000289361.6	+	3	603	c.235T>C	c.(235-237)Tat>Cat	p.Y79H	BTN3A1_ENST00000476549.2_Missense_Mutation_p.Y79H|BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y79H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y79H	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	79	Ig-like V-type 1.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGTGAACGTGTATGCAGATGG	0.562000													48	412					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5419762	5419762	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr18:5419762C>T	ENST00000341928.2	-	12	1794	c.1454G>A	c.(1453-1455)cGg>cAg	p.R485Q	EPB41L3_ENST00000400111.3_Missense_Mutation_p.R503Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R485Q|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R503Q|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R503Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	485	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ccccttcctccgtttgtcctc	0.552000													31	206					0	0	1	0	0
ESR2	0	broad.mit.edu	37	14	64727336	64727336	+	Silent	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr14:64727336G>A	ENST00000557772.1	-	4	782	c.783C>T	c.(781-783)gaC>gaT	p.D261D	ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Silent_p.D261D|ESR2_ENST00000554572.1_Silent_p.D261D|ESR2_ENST00000553796.1_Silent_p.D261D|ESR2_ENST00000542956.1_Silent_p.D261D|ESR2_ENST00000353772.3_Silent_p.D261D|ESR2_ENST00000555278.1_Silent_p.D261D|ESR2_ENST00000357782.2_Silent_p.D261D|ESR2_ENST00000341099.4_Silent_p.D261D|ESR2_ENST00000267525.6_Silent_p.D261D	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	261	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.D261D(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GGCTCAGGGCGTCCAGCAGCA	0.682000													56	190					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													7	189					0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101574269	101574269	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:101574269C>A	ENST00000326172.5	+	8	1736	c.1621C>A	c.(1621-1623)Cag>Aag	p.Q541K	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.Q419K|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.Q441K	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	541	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GGGAAGTAATCAGTTTGTGGA	0.413000													39	299					4.0492e-12	4.61751e-12	1	1	0
MCAM	4162	broad.mit.edu	37	11	119182040	119182040	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:119182040G>A	ENST00000392814.1	-	7	2075	c.1346C>T	c.(1345-1347)aCg>aTg	p.T449M	MCAM_ENST00000264036.4_Missense_Mutation_p.T500M			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	500	Ig-like C2-type 3.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GTTGGAGGCCGTGCATTCAAC	0.617000													4	144					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	434517	434517	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:434517G>T	ENST00000316418.5	+	12	1772	c.1728G>T	c.(1726-1728)tgG>tgT	p.W576C	AHRR_ENST00000506456.1_Missense_Mutation_p.W414C|AHRR_ENST00000512529.1_Missense_Mutation_p.W404C|AHRR_ENST00000505113.1_Missense_Mutation_p.W558C	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	558	Needed for transcriptional repression (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCAGGTGTGGCTGGGGGCCA	0.607000													10	146					4.3838e-07	4.78903e-07	1	1	0
CEP350	9857	broad.mit.edu	37	1	179989235	179989235	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:179989235G>T	ENST00000367607.3	+	12	2744	c.2326G>T	c.(2326-2328)Gaa>Taa	p.E776*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	776						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAAGGATTTTGAATCTATTTT	0.403000													42	319					3.61848e-18	4.31562e-18	1	1	0
CTC-260E6.6	0	broad.mit.edu	37	19	20368699	20368699	+	RNA	SNP	C	C	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:20368699C>T	ENST00000593655.1	-	0	199																											agccttgtttctcccttagct	0.453000													9	62					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													7	92					0	0	1	0	0
CXorf36	79742	broad.mit.edu	37	X	45011191	45011191	+	Silent	SNP	G	G	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrX:45011191G>A	ENST00000398000.2	-	5	1082	c.1008C>T	c.(1006-1008)agC>agT	p.S336S	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	336						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						AAACCAGGCAGCTAAAAATGT	0.542000													4	13					0	0	1	0	0
B4GALT2	8704	broad.mit.edu	37	1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-	rs72406230		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)del	p.S65del	B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685													8	365	---	---	---	---					
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:150551492_150551494delTCC	ENST00000369026.2	-	1	572_574	c.513_515delGGA	c.(511-516)gac>ga	p.ED171del	MCL1_ENST00000307940.3_In_Frame_Del_p.ED171del	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	171	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAACTCGTCCTCCTCCTCCT	0.635													9	439	---	---	---	---					
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:156694023delG	ENST00000313146.6	-	2	1647	c.865delC	c.(865-867)tcfs	p.L289fs	ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCCGGTTGAGGGGGGGGATA	0.557													11	381	---	---	---	---					
CEP350	9857	broad.mit.edu	37	1	179989588	179989594	+	Frame_Shift_Del	DEL	TCAGAAG	TCAGAAG	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:179989588_179989594delTCAGAAG	ENST00000367607.3	+	12	3097_3103	c.2679_2685delTCAGAAG	c.(2677-2685)atfs	p.IQK893fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	893						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTGCCAGAATTCAGAAGATGCTGGGAA	0.425													34	280	---	---	---	---					
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)del	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443													9	376	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agt>ag	p.SS117del	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													8	488	---	---	---	---					
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)del	p.K1310del	OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576													10	333	---	---	---	---					
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)cafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473													9	205	---	---	---	---					
SLC20A1	6574	broad.mit.edu	37	2	113416607	113416608	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:113416607_113416608delAG	ENST00000272542.3	+	7	1523_1524	c.984_985delAG	c.(982-987)ccagfs	p.PE328fs	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	328					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.R332fs*14(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGGAAGCTCCAGAGAGAGAGAG	0.515													9	376	---	---	---	---					
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cag>ca	p.QTG371del	PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	371						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													7	27	---	---	---	---					
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)acafs	p.T289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381													7	228	---	---	---	---					
COL5A2	1290	broad.mit.edu	37	2	189943835	189943836	+	Splice_Site	INS	-	-	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:189943835_189943836insA	ENST00000374866.3	-	15	1235		c.e15-2			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGCTTCACCCTAAAAAAAAATG	0.381													10	259	---	---	---	---					
GTF3C3	9330	broad.mit.edu	37	2	197649613	197649614	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:197649613_197649614insT	ENST00000263956.3	-	8	1170_1171	c.1081_1082insA	c.(1081-1083)ttcfs	p.F361fs	GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	361						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCTTCTGAAGTTTTTTTTTCC	0.337													8	242	---	---	---	---					
EFHD1	80303	broad.mit.edu	37	2	233546363	233546365	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr2:233546363_233546365delGGA	ENST00000264059.3	+	4	1131_1133	c.654_656delGGA	c.(652-657)cgg>cg	p.RE218del	EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	218							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGCGGAAGCGGGAGGAGGAGGAG	0.547													10	428	---	---	---	---					
TMEM40	55287	broad.mit.edu	37	3	12790156	12790158	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:12790156_12790158delGAG	ENST00000314124.7	-	3	563_565	c.207_209delCTC	c.(205-210)tca>tc	p.SS69del	TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	69	Ser-rich.					integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TGCTATACCTgaggaggaggagg	0.394													7	496	---	---	---	---					
GPX1	2876	broad.mit.edu	37	3	49395674	49395676	+	In_Frame_Del	DEL	GCC	GCC	-	rs56041243		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:49395674_49395676delGCC	ENST00000419783.1	-	1	357_359	c.36_38delGGC	c.(34-39)gcc>gc	p.AA12del	GPX1_ENST00000419349.1_In_Frame_Del_p.AA12del|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	12					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	p.A12_A13delAA(1)		breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CACCGACTGGgccgccgccgccg	0.690													9	9	---	---	---	---					
MST1	4485	broad.mit.edu	37	3	49723322	49723327	+	In_Frame_Del	DEL	GCGCTG	GCGCTG	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr3:49723322_49723327delGCGCTG	ENST00000449682.2	-	10	1577_1582	c.1216_1221delCAGCGC	c.(1216-1221)del	p.QR406del	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	392	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGGACCAGCGCTGGCACTGGACA	0.704													10	646	---	---	---	---					
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	RNA	DEL	A	A	-	rs145239076		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413													7	25	---	---	---	---					
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:71554620_71554622delGAG	ENST00000254803.2	+	1	425_427	c.226_228delGAG	c.(226-228)del	p.E81del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	81	Glu-rich.				brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567													7	192	---	---	---	---					
PKD2	5311	broad.mit.edu	37	4	88986559	88986559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:88986559delA	ENST00000237596.2	+	11	2218	c.2152delA	c.(2152-2154)aafs	p.K719fs	PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000511337.1_3'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	719	EF-hand domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACTAAAACTGAAAAAAAATAC	0.383													7	446	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190878555	190878556	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr4:190878555_190878556insA	ENST00000226798.4	+	6	657_658	c.435_436insA	c.(433-438)ggaaatfs	p.N146fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	146					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCACTTAGGGGAAAATGGCTTT	0.351													10	93	---	---	---	---					
RBM27	54439	broad.mit.edu	37	5	145647320	145647320	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr5:145647320delA	ENST00000265271.5	+	15	2606	c.2440delA	c.(2440-2442)aafs	p.K816fs	RBM27_ENST00000506502.1_Frame_Shift_Del_p.K761fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	816					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.K816fs*5(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAGTGCTTAAAAAAAAACA	0.348													7	246	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30570264	30570266	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:30570264_30570266delGGA	ENST00000376511.2	-	19	2712_2714	c.2160_2162delTCC	c.(2158-2163)cca>cc	p.PP720del		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	720	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCTCGGAATggaggaggaggag	0.670													7	247	---	---	---	---					
SYNGAP1	8831	broad.mit.edu	37	6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)del	p.H966del	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645													11	771	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5430009	5430011	+	In_Frame_Del	DEL	AAG	AAG	-	rs34840801		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:5430009_5430011delAAG	ENST00000399434.2	-	3	528_530	c.370_372delCTT	c.(370-372)del	p.L124del	TNRC18_ENST00000430969.1_Intron|TNRC18_ENST00000399537.4_Intron			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	0							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aaaaaaaaaaaaGCCAGCATCCT	0.547													7	50	---	---	---	---					
HOXA11	3207	broad.mit.edu	37	7	27222462	27222462	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:27222462delT	ENST00000006015.3	-	2	966	c.895delA	c.(895-897)ttfs	p.I299fs		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	299					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TCTCTGTTAATTTTTTTTTCC	0.448			T	NUP98	CML								9	374	---	---	---	---					
DLX6	1750	broad.mit.edu	37	7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-132)ccc>cGCCcc	p.43_44insR	DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000437541.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698													7	17	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-	rs71973809		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr7:100384030_100384033delTTGT	ENST00000542585.1	+	0	7124				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505													4	4	---	---	---	---					
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aafs	p.K107fs	MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274													7	238	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457	byFrequency	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gcc>gc	p.AA339del	ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													13	482	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)ggfs	p.R2703fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining					8	1065	---	---	---	---					
TBC1D31	93594	broad.mit.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TTTTCTTACAGTTTTTTTTTCA	0.322													7	194	---	---	---	---					
NFIL3	4783	broad.mit.edu	37	9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)ggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423													7	854	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													10	211	---	---	---	---					
AGAP11	119385	broad.mit.edu	37	10	88753099	88753100	+	RNA	INS	-	-	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:88753099_88753100insT	ENST00000444431.1	+	0	64				RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AATGAGTTTACTTTTTTTTTTA	0.307													10	116	---	---	---	---					
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:105048271_105048273delGAG	ENST00000369849.4	+	3	1394_1396	c.1345_1347delGAG	c.(1345-1347)del	p.E454del		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	454	Poly-Glu.|Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458													11	368	---	---	---	---					
FRG2B	441581	broad.mit.edu	37	10	135438960	135438960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr10:135438960delC	ENST00000443774.1	-	4	532	c.483delG	c.(481-483)agfs	p.R161fs	FRG2B_ENST00000425520.1_Frame_Shift_Del_p.R160fs			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	160						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGGCCCGAGACCTATGCCGCT	0.557													15	897	---	---	---	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)agc>a	p.TS290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													9	474	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594													8	192	---	---	---	---					
NAV2	89797	broad.mit.edu	37	11	19901475	19901477	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:19901475_19901477delAGC	ENST00000396085.1	+	5	933_935	c.572_574delAGC	c.(571-576)aag>a	p.KQ191del	NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	191	CH.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCCGATACAagcagcagcagca	0.611													7	374	---	---	---	---					
ACTN3	89	broad.mit.edu	37	11	66321927	66321928	+	RNA	INS	-	-	A	rs141435934		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:66321927_66321928insA	ENST00000513398.1	+	0	566				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						gaccctgtctcaaaaaaaaaaa	0.540													7	7	---	---	---	---					
CD3G	917	broad.mit.edu	37	11	118220583	118220583	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr11:118220583delA	ENST00000532917.1	+	3	273	c.205delA	c.(205-207)aafs	p.K71fs	CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	71	Ig-like.				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AACTGAAGATAAAAAAAAATG	0.403													9	230	---	---	---	---					
TMBIM4	51643	broad.mit.edu	37	12	66531936	66531937	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:66531936_66531937insA	ENST00000358230.3	-	7	640_641	c.520_521insT	c.(520-522)tagfs	p.*174fs	TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	174						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TATCTCACTATAAAAAAAAAAC	0.351													9	173	---	---	---	---					
RP11-478C19.2	0	broad.mit.edu	37	12	110868215	110868216	+	RNA	DEL	GT	GT	-	rs113592903		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr12:110868215_110868216delGT	ENST00000550231.1	-	0	97																											CAgtgtgtgcgtgtgtgtgtgt	0.490													9	16	---	---	---	---					
VPS36	51028	broad.mit.edu	37	13	52990060	52990061	+	Splice_Site	INS	-	-	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:52990060_52990061insA	ENST00000378060.4	-	14	1095		c.e14-2			NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)						cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		AGCAGCAACCTAAAAAAAAACA	0.396													10	475	---	---	---	---					
RP11-394A14.2	0	broad.mit.edu	37	13	64407210	64407211	+	RNA	INS	-	-	TACTGTCAG			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:64407210_64407211insTACTGTCAG	ENST00000607822.1	-	0	2159																											AGACCTTTATATAATTGCCAAA	0.366													12	799	---	---	---	---					
SLITRK5	26050	broad.mit.edu	37	13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tac>ta	p.YG717del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	717						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACAGCGTGTACGGCGGCGGCGGC	0.645													8	282	---	---	---	---					
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr14:24633132_24633134delAGC	ENST00000396864.3	+	5	828_830	c.541_543delAGC	c.(541-543)del	p.S187del	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	187	Poly-Ser.				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.567													16	330	---	---	---	---					
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)del	p.A116del	SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478													9	257	---	---	---	---					
TLN2	83660	broad.mit.edu	37	15	63076122	63076123	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr15:63076122_63076123delCA	ENST00000472902.1	+	9	1201_1202	c.948_949delCA	c.(946-951)tgcafs	p.CT316fs	TLN2_ENST00000561311.1_Intron|TLN2_ENST00000306829.6_Intron			Q9Y4G6	TLN2_HUMAN	talin 2	0	FERM.|Interaction with PIP5K1C (By similarity).				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTTTAAGATGCACACACACACT	0.554													8	312	---	---	---	---					
CSPG4P5	0	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249																											TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586													13	67	---	---	---	---					
IL4R	3566	broad.mit.edu	37	16	27373787	27373789	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:27373787_27373789delGAG	ENST00000395762.2	+	11	1373_1375	c.1114_1116delGAG	c.(1114-1116)del	p.E376del	IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	376	Poly-Glu.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGTGGAGTGTGAGGAGGAGGAGG	0.591													7	295	---	---	---	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)ggg>g	p.DG57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532													7	1155	---	---	---	---					
CCDC135	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtg>gt	p.VE8del	CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	8						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591													8	398	---	---	---	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaa>ga	p.EE189del		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													11	365	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578484	7578485	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:7578484_7578485insA	ENST00000420246.2	-	5	577_578	c.445_446insT	c.(445-447)cacfs	p.H149fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.H149fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.H149fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.H149fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.H149fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.H149fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	149	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S149F(6)|p.S149fs*32(5)|p.S149P(4)|p.S149T(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.Q144fs*16(1)|p.S149fs*21(1)|p.D148fs*23(1)|p.S149fs*31(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.V143_S149del(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)		CGGGGGTGTGGAATCAACCCAC	0.604		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)			27	204	---	---	---	---					
KDM6B	23135	broad.mit.edu	37	17	7751859	7751861	+	In_Frame_Del	DEL	CAC	CAC	-	rs59627144		TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:7751859_7751861delCAC	ENST00000254846.5	+	11	2642_2644	c.2253_2255delCAC	c.(2251-2256)gtc>gt	p.VT751del	KDM6B_ENST00000448097.2_In_Frame_Del_p.VT751del	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	751	Pro-rich.|Thr-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGTCGCCGTcaccaccaccacc	0.650													10	132	---	---	---	---					
TMEM97	27346	broad.mit.edu	37	17	26653806	26653807	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:26653806_26653807insA	ENST00000226230.6	+	3	663_664	c.518_519insA	c.(517-519)aaafs	p.K173fs	TMEM97_ENST00000336687.6_Frame_Shift_Ins_p.K66fs|TMEM97_ENST00000583381.1_Frame_Shift_Ins_p.K66fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	173					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAAGAGAAAAGAAAAAAAAAAT	0.441													9	192	---	---	---	---					
SUZ12P	0	broad.mit.edu	37	17	29096087	29096087	+	RNA	DEL	T	T	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:29096087delT	ENST00000582557.1	+	0	1381																											ATATTGGTAATTTTTTTTTTT	0.343													7	64	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)tcfs	p.I91fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													7	405	---	---	---	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr18:12986927_12986929delTCC	ENST00000399892.2	+	9	1238_1240	c.1137_1139delTCC	c.(1135-1140)ctt>ct	p.LP379del	SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													11	170	---	---	---	---					
C19orf55	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atc>at	p.IS213del	C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	213	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631													8	914	---	---	---	---					
RP4-777D9.2	0	broad.mit.edu	37	20	21143813	21143814	+	RNA	INS	-	-	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:21143813_21143814insT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							AAGCCATTCAATTTTTTTTTTC	0.371													7	263	---	---	---	---					
SYCP2	10388	broad.mit.edu	37	20	58452518	58452519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr20:58452518_58452519insT	ENST00000357552.3	-	33	3296_3297	c.3071_3072insA	c.(3070-3072)atafs	p.I1024fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1024					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GATCTTTATAGTTTTTTTTTGT	0.327													7	197	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr22:36689419_36689421delCCT	ENST00000216181.5	-	30	4279_4281	c.4049_4051delAGG	c.(4048-4053)gcc>g	p.EA1350del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1350				E -> EE (in Ref. 7).	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.650			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				8	331	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38120323	38120325	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chr22:38120323_38120325delCCT	ENST00000406386.3	+	7	2015_2017	c.1760_1762delCCT	c.(1759-1764)gcc>g	p.AS587del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	587					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAA	0.596													11	1128	---	---	---	---					
RBMY2EP	0	broad.mit.edu	37	Y	23563322	23563323	+	RNA	DEL	AC	AC	-			TCGA-HZ-A77P-01A-11D-A33T-08	TCGA-HZ-A77P-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2c1de61-378f-4a8c-b062-44c00d0a4cfd	cd18be6d-031e-446d-a3ed-4ca43606c221	g.chrY:23563322_23563323delAC	ENST00000444169.1	-	0	86					NR_001574.2																						ATATGAAAATacacacacacac	0.302													7	39	---	---	---	---					
