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
PLCH2	9651	broad.mit.edu	37	1	2435767	2435767	+	Silent	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr1:2435767C>T	ENST00000419816.2	+	22	3640	c.3366C>T	c.(3364-3366)tcC>tcT	p.S1122S	PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378486.3_Silent_p.S1122S|PLCH2_ENST00000378488.3_Silent_p.S1086S			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1122					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CCGTGTACTCCGATGCCACGG	0.662000													10	18					0	0	0.411799	0	0
UBE3B	89910	broad.mit.edu	37	12	109972426	109972426	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr12:109972426C>T	ENST00000342494.3	+	28	3641	c.3046C>T	c.(3046-3048)Cgg>Tgg	p.R1016W	UBE3B_ENST00000434735.2_Missense_Mutation_p.R1016W	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1016	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CAGCGTCCTCCGGGGCTTCTT	0.632000													6	22					0	0	0.248553	0	0
TRAF5	7188	broad.mit.edu	37	1	211526711	211526711	+	Nonsense_Mutation	SNP	A	A	T	rs141533849	byFrequency	TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr1:211526711A>T	ENST00000336184.2	+	2	190	c.130A>T	c.(130-132)Aaa>Taa	p.K44*	TRAF5_ENST00000367004.3_Nonsense_Mutation_p.K44*|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000261464.5_Nonsense_Mutation_p.K44*|TRAF5_ENST00000427925.2_Nonsense_Mutation_p.K44*	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	44					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		AGAGCGCTACAAATGTGCCTT	0.567000													14	91					0	0	0.500413	0	0
MTX2	10651	broad.mit.edu	37	2	177191598	177191598	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr2:177191598T>A	ENST00000392529.2	+	6	629	c.224T>A	c.(223-225)cTt>cAt	p.L75H	MTX2_ENST00000249442.6_Missense_Mutation_p.L85H|MTX2_ENST00000443241.1_Missense_Mutation_p.L29H			O75431	MTX2_HUMAN	metaxin 2	85					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			GTATCAGAACTTGGTCCAATA	0.284000													3	51					0	0	0.150653	0	0
GATA6	2627	broad.mit.edu	37	18	19751577	19751577	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr18:19751577G>A	ENST00000269216.3	+	2	749	c.472G>A	c.(472-474)Ggt>Agt	p.G158S	GATA6_ENST00000581694.1_Missense_Mutation_p.G158S	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	158					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.G158S(1)		NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CTCCAGCCAGGGTCCGGCCGC	0.751000													6	11					0	0	0.217242	0	0
OR5D16	390144	broad.mit.edu	37	11	55606597	55606597	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr11:55606597C>A	ENST00000378396.1	+	1	370	c.370C>A	c.(370-372)Cac>Aac	p.H124N		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GGCCTATGACCACTTTGTGGC	0.438000													27	67					1.77063e-15	2.11662e-15	0.693898	1	0
C9orf131	138724	broad.mit.edu	37	9	35045640	35045640	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr9:35045640C>A	ENST00000312292.5	+	2	3061	c.3014C>A	c.(3013-3015)cCc>cAc	p.P1005H	C9orf131_ENST00000421362.2_Missense_Mutation_p.P957H|C9orf131_ENST00000354479.5_Missense_Mutation_p.P932H	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	1005										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACTGCTCTTCCCCAGCTGCTT	0.592000													10	38					0.000673444	0.000737244	0.361761	1	0
RASL10B	91608	broad.mit.edu	37	17	34062322	34062322	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr17:34062322G>A	ENST00000268864.3	+	2	496	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	40	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCGCCCGCCGCCTTTACCTG	0.632000													22	33					0	0	0.654019	0	0
SEC22A	26984	broad.mit.edu	37	3	122964752	122964752	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr3:122964752A>G	ENST00000309934.4	+	4	1444	c.548A>G	c.(547-549)cAg>cGg	p.Q183R	SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000492595.1_Missense_Mutation_p.Q183R	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	183					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		CCAGCTCACCAGCGACTGGAA	0.373000													68	126					0	0	0.870114	0	0
EAF1	85403	broad.mit.edu	37	3	15473685	15473685	+	Missense_Mutation	SNP	A	A	G	rs17857248		TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr3:15473685A>G	ENST00000396842.2	+	3	715	c.290A>G	c.(289-291)tAt>tGt	p.Y97C	EAF1_ENST00000432764.2_Intron	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	97				Y -> F (in Ref. 2; AAH41329).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						ACTGGTGAATATGTGCTGGAA	0.418000													60	80					0	0	0.870114	0	0
OSGIN1	29948	broad.mit.edu	37	16	83998759	83998759	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr16:83998759C>G	ENST00000343939.2	+	7	1213	c.830C>G	c.(829-831)tCc>tGc	p.S277C	OSGIN1_ENST00000361711.3_Missense_Mutation_p.S194C|OSGIN1_ENST00000393306.1_Missense_Mutation_p.S194C			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	277					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						AACTTTGTGTCCGGTGCTGTA	0.642000													20	99					0	0	0.624587	0	0
OSGIN1	29948	broad.mit.edu	37	16	83994336	83994336	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr16:83994336G>T	ENST00000343939.2	+	5	999	c.616G>T	c.(616-618)Ggc>Tgc	p.G206C	OSGIN1_ENST00000565123.1_Missense_Mutation_p.G123C|OSGIN1_ENST00000361711.3_Missense_Mutation_p.G123C|OSGIN1_ENST00000393306.1_Missense_Mutation_p.G123C			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	206					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CGTGGTTCTGGGCCGGAACCT	0.652000													4	37					0.0381472	0.0396731	0.278610	1	0
RYR2	6262	broad.mit.edu	37	1	237753108	237753108	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr1:237753108G>A	ENST00000366574.2	+	30	3931	c.3614G>A	c.(3613-3615)tGt>tAt	p.C1205Y	RYR2_ENST00000360064.6_Missense_Mutation_p.C1203Y|RYR2_ENST00000542537.1_Missense_Mutation_p.C1189Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1205	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATACCTGTGTGTAGCCTTGGA	0.388000													5	51					0	0	0.217242	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30881636	30881636	+	Silent	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr12:30881636G>A	ENST00000251071.5	-	8	2478	c.1728C>T	c.(1726-1728)agC>agT	p.S576S	CAPRIN2_ENST00000395805.2_Silent_p.S576S|CAPRIN2_ENST00000417045.1_Silent_p.S576S|CAPRIN2_ENST00000308433.5_Silent_p.S243S|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000298892.5_Silent_p.S576S	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	576					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTGGTATGAGGCTTGCTGTAG	0.428000													59	44					0	0	0.870114	0	0
ATP13A4	84239	broad.mit.edu	37	3	193182868	193182868	+	Missense_Mutation	SNP	G	G	A	rs148750067		TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr3:193182868G>A	ENST00000342695.4	-	12	1644	c.1322C>T	c.(1321-1323)gCg>gTg	p.A441V	ATP13A4_ENST00000295548.3_Missense_Mutation_p.A441V|ATP13A4_ENST00000392443.3_Missense_Mutation_p.A422V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	441					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CGGAGGAACCGCAATTGTGAT	0.507000													28	28					0	0	0.779181	0	0
DNAH11	8701	broad.mit.edu	37	7	21730401	21730401	+	Silent	SNP	A	A	G			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr7:21730401A>G	ENST00000328843.6	+	36	5995	c.5964A>G	c.(5962-5964)gaA>gaG	p.E1988E	DNAH11_ENST00000409508.3_Silent_p.E1981E			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1988	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCTTGGGGAAGCTATCACAC	0.363000									Kartagener syndrome				46	265					0	0	0.870114	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206816	142206816	+	RNA	SNP	G	G	A	rs138999874	by1000genomes	TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr7:142206816G>A	ENST00000426318.2	-	0	100																											CTGTAATAGAGAACAACAGAC	0.522000													5	44					0	0	0.361761	0	0
ARHGAP6	395	broad.mit.edu	37	X	11206861	11206861	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chrX:11206861C>T	ENST00000337414.4	-	4	1936	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.R152Q|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.R152Q|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R355Q|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R387Q|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.R164Q|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.R180Q	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	355					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCTCCTAGCCCGAGGAGCCGG	0.478000													13	61					0	0	0.457914	0	0
NAV1	89796	broad.mit.edu	37	1	201778380	201778380	+	Silent	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr1:201778380C>T	ENST00000367296.4	+	21	4716	c.4296C>T	c.(4294-4296)atC>atT	p.I1432I	NAV1_ENST00000367302.1_Silent_p.I1385I|NAV1_ENST00000295624.6_Silent_p.I1429I|NAV1_ENST00000367297.4_Silent_p.I1424I|NAV1_ENST00000367300.3_Silent_p.I1372I|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Silent_p.I1038I	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1432					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CGCAGCACATCATCAAAGGGG	0.517000													47	101					0	0	0.870114	0	0
FAM19A1	407738	broad.mit.edu	37	3	68055862	68055862	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr3:68055862C>A	ENST00000478136.1	+	2	583	c.93C>A	c.(91-93)ttC>ttA	p.F31L	FAM19A1_ENST00000496687.1_Missense_Mutation_p.F31L	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	31						endoplasmic reticulum|extracellular region		p.F31F(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		AGCACACTTTCCAGCAGCATC	0.498000													52	100					3.36121e-32	4.21163e-32	0.870114	1	0
NMUR2	56923	broad.mit.edu	37	5	151784061	151784061	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr5:151784061G>A	ENST00000255262.3	-	1	779	c.614C>T	c.(613-615)aCg>aTg	p.T205M	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	205					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.T205M(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTTGATGACCGTACAGGTGGC	0.542000													7	258					0	0	0.307466	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333829	28333829	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr6:28333829G>T	ENST00000377255.3	+	7	1681	c.1384G>T	c.(1384-1386)Gcc>Tcc	p.A462S	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.A462S|ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.A314S	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	462				QGEAWKSRMESQLENVETPMS -> TGRGWKVGWKASWKML KLPCP (in Ref. 5; AAB16813).	positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GCAGGGAGAGGCCTGGAAAAG	0.438000													12	22					0.000219431	0.000242775	0.457914	1	0
USP13	8975	broad.mit.edu	37	3	179478937	179478937	+	Silent	SNP	C	C	G			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr3:179478937C>G	ENST00000263966.3	+	17	2457	c.1986C>G	c.(1984-1986)gcC>gcG	p.A662A	USP13_ENST00000496897.1_Silent_p.A597A	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	662	UBA 1.				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.A662A(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TGCAGCTGGCCGAGATGGGTT	0.498000													11	147					0	0	0.457914	0	0
AGAP1	116987	broad.mit.edu	37	2	236626271	236626271	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr2:236626271A>T	ENST00000409538.1	+	3	1584	c.1088A>T	c.(1087-1089)cAg>cTg	p.Q363L	AGAP1_ENST00000336665.5_Missense_Mutation_p.Q98L|AGAP1_ENST00000304032.7_Missense_Mutation_p.Q98L|AGAP1_ENST00000409457.1_Missense_Mutation_p.Q98L			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	98	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACATATGTCCAGGAGGAGTCT	0.453000													22	35					0	0	0.667858	0	0
CBS	875	broad.mit.edu	37	21	44479397	44479397	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr21:44479397C>T	ENST00000398165.3	-	13	1421	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	CBS_ENST00000359624.3_Missense_Mutation_p.D388N|CBS_ENST00000398168.1_Missense_Mutation_p.D388N|CBS_ENST00000352178.5_Missense_Mutation_p.D388N|CBS_ENST00000398158.1_Missense_Mutation_p.D388N|CBS_ENST00000544202.1_Missense_Mutation_p.D300N	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	388					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	ATCCACCTGTCGCTCAGGAAC	0.687000													17	29					0	0	0.592651	0	0
ARAP2	116984	broad.mit.edu	37	4	36149176	36149176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr4:36149176C>A	ENST00000303965.4	-	18	3682	c.3193G>T	c.(3193-3195)Gag>Tag	p.E1065*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1065	PH 4.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTACTTAGCTCTTGCAGTCTT	0.388000													12	27					3.27435e-08	3.82621e-08	0.457914	1	0
CCDC15	80071	broad.mit.edu	37	11	124873844	124873844	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr11:124873844G>T	ENST00000529051.1	+	12	2555	c.2296G>T	c.(2296-2298)Gat>Tat	p.D766Y	CCDC15_ENST00000344762.5_Missense_Mutation_p.D766Y			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	766						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TAAAGAAGAAGATAAGAAAGA	0.358000													3	10					2.56e-06	2.92571e-06	0.150653	1	0
XPO1	7514	broad.mit.edu	37	2	61726958	61726958	+	Silent	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr2:61726958G>A	ENST00000401558.2	-	7	1207	c.480C>T	c.(478-480)agC>agT	p.S160S	XPO1_ENST00000406957.1_Silent_p.S160S|XPO1_ENST00000404992.2_Silent_p.S160S	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	160	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AGAGACTTTCGCTGGTCCTAC	0.358000			Mis		CLL								18	52					0	0	0.592651	0	0
CHST4	10164	broad.mit.edu	37	16	71570803	71570803	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr16:71570803G>T	ENST00000338482.5	+	3	566	c.223G>T	c.(223-225)Gcc>Tcc	p.A75S	CHST4_ENST00000539698.3_Missense_Mutation_p.A75S|CHST4_ENST00000572450.1_Missense_Mutation_p.A75S|ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	75					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GATGGAGCCCGCCTGGCACGT	0.587000													13	46					6.31663e-08	7.29921e-08	0.479597	1	0
NOD1	10392	broad.mit.edu	37	7	30494771	30494771	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr7:30494771C>T	ENST00000222823.4	-	5	883	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	NOD1_ENST00000423334.2_Missense_Mutation_p.V120M	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	120					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GTGTTGACCACGACTTTGCTC	0.617000													5	163					0	0	0.217242	0	0
PDAP1	11333	broad.mit.edu	37	7	99002494	99002494	+	Silent	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr7:99002494C>T	ENST00000350498.3	-	2	376	c.96G>A	c.(94-96)caG>caA	p.Q32Q		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	32					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	CCCTGGCCTTCTGCTTCTCAG	0.607000													8	33					0	0	0.361761	0	0
KMT2C	58508	broad.mit.edu	37	7	151932943	151932943	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr7:151932943A>C	ENST00000355193.2	-	16	2946	c.2728T>G	c.(2728-2730)Tca>Gca	p.S910A	KMT2C_ENST00000262189.6_Missense_Mutation_p.S910A					lysine (K)-specific methyltransferase 2C																		TTCAGCTTTGACCTGCCTCGG	0.483000													6	141					0	0	0.248553	0	0
HLA-A	3105	broad.mit.edu	37	6	29912337	29912337	+	Missense_Mutation	SNP	G	G	T	rs41550912		TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr6:29912337G>T	ENST00000396634.1	+	7	1297	c.956G>T	c.(955-957)gGa>gTa	p.G319V	HLA-A_ENST00000376809.5_Missense_Mutation_p.G319V|HLA-A_ENST00000376806.5_Missense_Mutation_p.G319V|HLA-A_ENST00000376802.2_Intron			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	319					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			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						GTTCTCCTTGGAGCTGTGATC	0.592000									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)			3	44					6.4e-05	7.15699e-05	0.115264	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													7	29					0	0	0.278610	0	0
PGAM2	5224	broad.mit.edu	37	7	44102401	44102401	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr7:44102401C>T	ENST00000297283.3	-	3	781	c.724G>A	c.(724-726)Gcc>Acc	p.A242T		NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	242					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						GCCTCCATGGCCTTCCGCACC	0.622000													18	63					0	0	0.608945	0	0
KIAA1377	57562	broad.mit.edu	37	11	101868365	101868365	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr11:101868365C>A	ENST00000263468.8	+	11	3615	c.3345C>A	c.(3343-3345)gaC>gaA	p.D1115E	KIAA1377_ENST00000537689.1_Missense_Mutation_p.D916E	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1115							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCTGCAGAGACAAGAGATAAT	0.428000													17	49					3.6726e-16	4.44129e-16	0.667858	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr16:90162462A>G	ENST00000564451.1	+	0	1815				TUBB8P7_ENST00000567960.1_RNA														p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522000													4	100					0	0	0.150653	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475890	140475890	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr5:140475890G>T	ENST00000194155.4	+	1	1664	c.1516G>T	c.(1516-1518)Gtc>Ttc	p.V506F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		506	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCTCCCTGGTCTCCATCAA	0.701000													25	184					1.56442e-22	1.9369e-22	0.760397	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													4	50					0	0	0.184627	0	0
TTF1	7270	broad.mit.edu	37	9	135266209	135266209	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr9:135266209C>T	ENST00000334270.2	-	7	2036	c.1997G>A	c.(1996-1998)cGt>cAt	p.R666H		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	666	Myb-like 2.				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CCAAGCACCACGATTTCTTTC	0.368000													18	44					0	0	0.639603	0	0
C8orf47	203111	broad.mit.edu	37	8	99102050	99102050	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr8:99102050G>A	ENST00000318528.3	+	2	1164	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	269	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TGTAACACCAGAAGTATTGGA	0.443000													7	76					0	0	0.278610	0	0
MISP	126353	broad.mit.edu	37	19	758028	758028	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr19:758028G>A	ENST00000215582.6	+	2	1185	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H		NM_173481.2	NP_775752.1			mitotic spindle positioning																		GAGACACAGCGTGAGGAAGAC	0.701000													5	10					0	0	0.184627	0	0
CSMD1	64478	broad.mit.edu	37	8	3245155	3245155	+	Silent	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr8:3245155G>A	ENST00000602557.1	-	19	3201	c.2646C>T	c.(2644-2646)aaC>aaT	p.N882N	CSMD1_ENST00000602723.1_Silent_p.N882N|CSMD1_ENST00000537824.1_Silent_p.N881N|CSMD1_ENST00000520002.1_Silent_p.N882N|CSMD1_ENST00000400186.3_Silent_p.N882N|CSMD1_ENST00000542608.1_Silent_p.N881N|CSMD1_ENST00000539096.1_Silent_p.N881N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	882	Sushi 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCGATGGCCGTTCACAGGGA	0.562000													6	2					0	0	0.248553	0	0
ATP2B2	491	broad.mit.edu	37	3	10491052	10491052	+	Missense_Mutation	SNP	C	C	T	rs149328739		TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr3:10491052C>T	ENST00000397077.1	-	4	751	c.176G>A	c.(175-177)cGc>cAc	p.R59H	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R59H|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R59H|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R59H|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R59H			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	59					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGTTTTGAGGCGCCGGCAGAT	0.562000													4	37					0	0	0.150653	0	0
GAS8	2622	broad.mit.edu	37	16	90102839	90102839	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr16:90102839G>T	ENST00000268699.4	+	6	723	c.601G>T	c.(601-603)Gac>Tac	p.D201Y	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Missense_Mutation_p.D176Y	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	201	Microtubule-binding.				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GGACGAACTCGACTTGCGGAG	0.532000													3	46					0.150653	0.153607	0.150653	1	0
CYP27A1	1593	broad.mit.edu	37	2	219677417	219677417	+	Silent	SNP	C	C	T	rs143600636	byFrequency	TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr2:219677417C>T	ENST00000258415.4	+	4	1216	c.789C>T	c.(787-789)ccC>ccT	p.P263P		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	263					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	p.P263P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GGACTCGCCCCGTGCTGCCTT	0.567000													43	307					0	0	0.870114	0	0
MB21D2	151963	broad.mit.edu	37	3	192516439	192516439	+	Silent	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr3:192516439G>A	ENST00000392452.2	-	2	1532	c.1212C>T	c.(1210-1212)cgC>cgT	p.R404R		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	404										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CCGGGTCTGAGCGCACAGAGG	0.577000													5	38					0	0	0.217242	0	0
SEMA3A	10371	broad.mit.edu	37	7	83591024	83591024	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr7:83591024A>G	ENST00000265362.3	-	17	2293	c.1979T>C	c.(1978-1980)cTt>cCt	p.L660P	SEMA3A_ENST00000436949.1_Missense_Mutation_p.L660P	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	660	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TACCTTAAGAAGAGTTTGTAT	0.428000													46	12					0	0	0.870114	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43803247	43803247	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr21:43803247G>A	ENST00000291532.3	-	8	1632	c.677C>T	c.(676-678)tCg>tTg	p.S226L	TMPRSS3_ENST00000433957.2_Missense_Mutation_p.S226L|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.S224L|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.S310L|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.S226L	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	226	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGGCCACTGCGAGAGCAAGGA	0.597000													7	26					0	0	0.335167	0	0
GATM	2628	broad.mit.edu	37	15	45660357	45660357	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr15:45660357A>G	ENST00000396659.3	-	4	925	c.586T>C	c.(586-588)Tac>Cac	p.Y196H	GATM_ENST00000558336.1_Missense_Mutation_p.Y196H	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	196					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	ATTGACCTGTACGCTCGGTAC	0.493000													20	21					0	0	0.667858	0	0
C1orf35	79169	broad.mit.edu	37	1	228290021	228290021	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr1:228290021G>C	ENST00000272139.4	-	5	671	c.437C>G	c.(436-438)tCt>tGt	p.S146C	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	146										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				CGTGAACACAGACAGCCCCAG	0.706000													5	32					0	0	0.248553	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831630	7831630	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr19:7831630C>A	ENST00000327325.5	+	5	991	c.873C>A	c.(871-873)gaC>gaA	p.D291E	CLEC4M_ENST00000597522.1_Missense_Mutation_p.D199E|CLEC4M_ENST00000596363.1_Missense_Mutation_p.D263E|CLEC4M_ENST00000248228.4_Missense_Mutation_p.D269E|CLEC4M_ENST00000359059.5_Missense_Mutation_p.D224E|CLEC4M_ENST00000357361.2_Missense_Mutation_p.D291E|CLEC4M_ENST00000334806.5_Missense_Mutation_p.D240E|CLEC4M_ENST00000394122.2_Missense_Mutation_p.D279E|CLEC4M_ENST00000595496.1_Missense_Mutation_p.D155E|CLEC4M_ENST00000596707.1_Missense_Mutation_p.D224E	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	291	C-type lectin.		D -> N (in dbSNP:rs2277998).		cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						ACTGGCACGACTCCGTCACCG	0.597000													23	73					6.07407e-21	7.43181e-21	0.717897	1	0
GEMIN5	25929	broad.mit.edu	37	5	154306962	154306962	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr5:154306962T>C	ENST00000285873.7	-	7	1138	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	355					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCATTGATGTAGAAAGTAAT	0.393000													11	43					0	0	0.479597	0	0
TRIOBP	11078	broad.mit.edu	37	22	38150920	38150920	+	Nonsense_Mutation	SNP	C	C	T	rs142929031		TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr22:38150920C>T	ENST00000406386.3	+	13	5671	c.5416C>T	c.(5416-5418)Cag>Tag	p.Q1806*	TRIOBP_ENST00000407319.2_Nonsense_Mutation_p.Q93*|TRIOBP_ENST00000403663.2_Nonsense_Mutation_p.Q93*|RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1806	PH.				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)					CTCTACTTCGCAGTGGAAGAA	0.527000													5	21					0	0	0.248553	0	0
OCM	654231	broad.mit.edu	37	7	5922210	5922210	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr7:5922210T>G	ENST00000242104.5	+	2	240	c.148T>G	c.(148-150)Ttc>Gtc	p.F50V	OCM_ENST00000416608.1_Missense_Mutation_p.F50V	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin	50	EF-hand 1.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		TGTTTTCCGGTTCATAGACAA	0.507000													11	206					0	0	0.361761	0	0
ADCY2	108	broad.mit.edu	37	5	7757636	7757636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr5:7757636G>A	ENST00000338316.4	+	16	2120	c.2031G>A	c.(2029-2031)tgG>tgA	p.W677*	ADCY2_ENST00000537121.1_Nonsense_Mutation_p.W497*	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	677					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCGCCCCTGGCCACGGATCT	0.507000													22	63					0	0	0.624587	0	0
TP53	7157	broad.mit.edu	37	17	7577130	7577130	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr17:7577130A>C	ENST00000420246.2	-	8	940	c.808T>G	c.(808-810)Ttt>Gtt	p.F270V	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.F270V|TP53_ENST00000359597.4_Missense_Mutation_p.F270V|TP53_ENST00000445888.2_Missense_Mutation_p.F270V|TP53_ENST00000269305.4_Missense_Mutation_p.F270V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	270	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (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.F270L(15)|p.0?(8)|p.F270V(7)|p.F270I(5)|p.S269_F270>I(2)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.S269fs*75(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.S269_F270insX(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)		CGCACCTCAAAGCTGTTCCGT	0.537000		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)			5	5					0	0	0.184627	0	0
EIF3I	8668	broad.mit.edu	37	1	32696570	32696570	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr1:32696570G>C	ENST00000373586.1	+	10	918	c.846G>C	c.(844-846)aaG>aaC	p.K282N		NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	282						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				GAAGAGTCAAGGGTCACTTTG	0.468000													17	36					0	0	0.539581	0	0
TRIM59	286827	broad.mit.edu	37	3	160155919	160155919	+	Silent	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr3:160155919G>A	ENST00000309784.4	-	3	1238	c.1053C>T	c.(1051-1053)caC>caT	p.H351H	RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_Intron	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	351						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGGTTATGATGTGTTGGTTGA	0.284000													16	26					0	0	0.539581	0	0
PLEKHF1	79156	broad.mit.edu	37	19	30164947	30164947	+	Silent	SNP	C	C	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr19:30164947C>A	ENST00000436066.3	+	2	667	c.201C>A	c.(199-201)atC>atA	p.I67I	PLEKHF1_ENST00000592810.1_Silent_p.I67I	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	67	PH.				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			ATGGCAGCATCGTGCTCAACA	0.602000													6	124					0.27861	0.281315	0.278610	1	0
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567000										HNSCC(15;0.026)			8	482					0	0	0.361761	0	0
RGPD3	653489	broad.mit.edu	37	2	107040265	107040265	+	Silent	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr2:107040265C>T	ENST00000409886.3	-	20	4245	c.4158G>A	c.(4156-4158)caG>caA	p.Q1386Q	RGPD3_ENST00000304514.7_Silent_p.Q1386Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1386	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TATCATAATTCTGTAAAATCT	0.343000													23	194					0	0	0.706142	0	0
GC	2638	broad.mit.edu	37	4	72634047	72634047	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr4:72634047C>T	ENST00000273951.8	-	3	575	c.232G>A	c.(232-234)Ggg>Agg	p.G78R	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.G78R|GC_ENST00000504199.1_Missense_Mutation_p.G97R	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	78	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GGGTCAGCCCCTTCCGCACAG	0.527000													4	33					0	0	0.150653	0	0
ZNF536	9745	broad.mit.edu	37	19	31039823	31039823	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr19:31039823C>G	ENST00000355537.3	+	4	3444	c.3297C>G	c.(3295-3297)caC>caG	p.H1099Q		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1099					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGACCGGCCACGTGGACCCTG	0.542000													26	12					0	0	0.740014	0	0
VDAC3	7419	broad.mit.edu	37	8	42262390	42262390	+	Silent	SNP	A	A	G			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr8:42262390A>G	ENST00000392935.3	+	9	854	c.711A>G	c.(709-711)aaA>aaG	p.K237K	VDAC3_ENST00000022615.4_Silent_p.K236K|VDAC3_ENST00000521158.1_Silent_p.K237K|VDAC3_ENST00000522572.1_Intron	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	236					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	CTTAGGCTAAAGTAAATAATG	0.378000													29	109					0	0	0.760397	0	0
IVD	3712	broad.mit.edu	37	15	40703778	40703778	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr15:40703778A>G	ENST00000249760.2	+	6	918	c.575A>G	c.(574-576)aAc>aGc	p.N192S	IVD_ENST00000479013.2_Missense_Mutation_p.N165S|IVD_ENST00000487418.2_Missense_Mutation_p.N195S	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	192					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CTGAATGGCAACAAGTTCTGG	0.522000													40	21					0	0	0.870114	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93155572	93155572	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr12:93155572T>A	ENST00000344636.3	+	9	929	c.745T>A	c.(745-747)Ttc>Atc	p.F249I		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	249	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CTTCAATGATTTCCTCTTAGT	0.333000													8	9					0	0	0.335167	0	0
TRPM1	4308	broad.mit.edu	37	15	31362264	31362264	+	Silent	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr15:31362264G>A	ENST00000542188.1	-	3	613	c.300C>T	c.(298-300)ttC>ttT	p.F100F	TRPM1_ENST00000397795.2_Silent_p.F61F|TRPM1_ENST00000256552.6_Silent_p.F83F|TRPM1_ENST00000559179.1_Silent_p.F61F	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	61					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CGCCACCCTGGAATTCAAGAA	0.507000													13	490					0	0	0.457914	0	0
ZNF704	619279	broad.mit.edu	37	8	81733777	81733777	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr8:81733777A>T	ENST00000327835.3	-	2	284	c.53T>A	c.(52-54)aTg>aAg	p.M18K		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	18						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TTGATGAGACATTTTTTTACC	0.418000													36	273					0	0	0.847076	0	0
SEMA5A	9037	broad.mit.edu	37	5	9063108	9063108	+	Silent	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr5:9063108G>A	ENST00000382496.5	-	18	3074	c.2409C>T	c.(2407-2409)ggC>ggT	p.G803G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	803	TSP type-1 5.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGTTCCGAATGCCCCTGCTGC	0.582000													10	57					0	0	0.435327	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136313805	136313805	+	Silent	SNP	T	T	C			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr9:136313805T>C	ENST00000371929.3	+	22	3261	c.2817T>C	c.(2815-2817)ccT>ccC	p.P939P	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.P908P|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.P939P	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	939	TSP type-1 5.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CAAGCAAGCCTGGGAGCCGGC	0.642000													11	23					0	0	0.387290	0	0
UGT2B28	54490	broad.mit.edu	37	4	70152481	70152481	+	Silent	SNP	A	A	G	rs141618560		TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr4:70152481A>G	ENST00000335568.5	+	3	884	c.882A>G	c.(880-882)gaA>gaG	p.E294E	UGT2B28_ENST00000511240.1_Silent_p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	294					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E294E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AAATGGAGGAATTTGTACAGA	0.393000													4	103					0	0	0.217242	0	0
TAF3	83860	broad.mit.edu	37	10	8007192	8007192	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr10:8007192G>T	ENST00000344293.5	+	3	1925	c.1719G>T	c.(1717-1719)aaG>aaT	p.K573N		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	573	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GGGAAACAAAGTATCCCTGGA	0.378000													3	37					0.115264	0.118688	0.115264	1	0
TTN	7273	broad.mit.edu	37	2	179484783	179484783	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr2:179484783A>T	ENST00000589042.1	-	249	46585	c.46361T>A	c.(46360-46362)cTg>cAg	p.L15454Q	TTN_ENST00000460472.2_Missense_Mutation_p.L6389Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L13813Q|TTN_ENST00000342992.6_Missense_Mutation_p.L12886Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L6581Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L6514Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13813	Fibronectin type-III 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCATCATCCAGCCTGCAATC	0.368000													10	32					0	0	0.387290	0	0
MB21D2	151963	broad.mit.edu	37	3	192516440	192516440	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr3:192516440C>T	ENST00000392452.2	-	2	1531	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	404										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CGGGTCTGAGCGCACAGAGGA	0.572000													5	39					0	0	0.217242	0	0
OR2W5	441932	broad.mit.edu	37	1	247655175	247655175	+	RNA	SNP	T	T	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr1:247655175T>A	ENST00000522351.1	+	0	806							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CACAGTGGTCTCTCTCTTCTA	0.537000													53	117					0	0	0.870114	0	0
DDX25	29118	broad.mit.edu	37	11	125788530	125788530	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr11:125788530G>A	ENST00000263576.6	+	10	1201	c.1046G>A	c.(1045-1047)cGa>cAa	p.R349Q	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	349	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TAGACTCGTCGAAACGCTAAG	0.537000													18	22					0	0	0.592651	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510125	77510125	+	Silent	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr1:77510125C>T	ENST00000477717.1	+	3	733	c.498C>T	c.(496-498)acC>acT	p.T166T		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	166					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GCCAGGGCACCGTGTTCATCT	0.637000													21	63					0	0	0.639603	0	0
FASN	2194	broad.mit.edu	37	17	80041455	80041455	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr17:80041455A>G	ENST00000306749.2	-	31	5497	c.5279T>C	c.(5278-5280)tTg>tCg	p.L1760S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1760	Enoyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GTGCGTAGCCAAGCACCTCAC	0.622000													9	11					0	0	0.307466	0	0
ECE2	9718	broad.mit.edu	37	3	184009886	184009886	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr3:184009886G>A	ENST00000402825.3	+	19	2512	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	ECE2_ENST00000357474.5_Missense_Mutation_p.E766K|ECE2_ENST00000404464.3_Missense_Mutation_p.E720K|ECE2_ENST00000359140.4_Missense_Mutation_p.E691K|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	838	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGCTCTCACGAGGGGCTGGT	0.667000													12	56					0	0	0.411799	0	0
ARMC8	25852	broad.mit.edu	37	3	137942330	137942330	+	Silent	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr3:137942330C>T	ENST00000469044.1	+	4	565	c.294C>T	c.(292-294)gtC>gtT	p.V98V	ARMC8_ENST00000481646.1_Silent_p.V84V|ARMC8_ENST00000393058.3_Silent_p.V88V|ARMC8_ENST00000358441.2_Silent_p.V84V|ARMC8_ENST00000538260.1_Silent_p.V98V|ARMC8_ENST00000489213.1_Silent_p.V56V|ARMC8_ENST00000461822.1_Silent_p.V98V|ARMC8_ENST00000471453.1_Silent_p.V84V|ARMC8_ENST00000485396.1_Silent_p.V56V|ARMC8_ENST00000491704.1_Silent_p.V56V|ARMC8_ENST00000470821.1_Silent_p.V98V	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	98							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						AAAACAATGTCAAGTCTCTAC	0.418000													17	99					0	0	0.539581	0	0
THSD7A	221981	broad.mit.edu	37	7	11486888	11486888	+	Silent	SNP	A	A	G			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr7:11486888A>G	ENST00000423059.3	-	12	3020	c.2769T>C	c.(2767-2769)ggT>ggC	p.G923G	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	923	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCCTAACTGCACCACAGTCTC	0.502000										HNSCC(18;0.044)			16	50					0	0	0.575678	0	0
E2F7	144455	broad.mit.edu	37	12	77436892	77436892	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr12:77436892C>A	ENST00000322886.7	-	7	1311	c.1076G>T	c.(1075-1077)cGt>cTt	p.R359L	E2F7_ENST00000416496.2_Missense_Mutation_p.R359L	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	359					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GGCTGGTTTACGACCTCGCTC	0.463000													27	272					2.12542e-12	2.51185e-12	0.706142	1	0
RFX6	222546	broad.mit.edu	37	6	117199104	117199104	+	Silent	SNP	C	C	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr6:117199104C>A	ENST00000332958.2	+	2	385	c.369C>A	c.(367-369)ctC>ctA	p.L123L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	123					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AGACACAGCTCACGCTGCAGT	0.478000													6	19					0.00198382	0.00212698	0.248553	1	0
LCE2C	353140	broad.mit.edu	37	1	152648696	152648696	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr1:152648696G>A	ENST00000368783.1	+	2	260	c.205G>A	c.(205-207)Ggt>Agt	p.G69S	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	69	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGGGGCTGGTGGCTGCTC	0.667000													8	117					0	0	0.307466	0	0
XRN1	54464	broad.mit.edu	37	3	142116274	142116274	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr3:142116274G>A	ENST00000264951.4	-	20	2353	c.2236C>T	c.(2236-2238)Cag>Tag	p.Q746*	XRN1_ENST00000392981.2_Nonsense_Mutation_p.Q746*	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	746					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAAAGCTTCTGTGTTCCTGGA	0.353000													6	30					0	0	0.278610	0	0
ATG13	9776	broad.mit.edu	37	11	46685646	46685646	+	Splice_Site	SNP	G	G	A			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr11:46685646G>A	ENST00000528494.1	+	11	1192		c.e11+1		ATG13_ENST00000451945.1_Intron|ATG13_ENST00000359513.4_Intron|ATG13_ENST00000312040.4_Intron|ATG13_ENST00000434074.1_Intron|ATG13_ENST00000524625.1_Intron|ATG13_ENST00000529655.1_Intron|ATG13_ENST00000526508.1_Intron|ATG13_ENST00000530500.1_Intron	NM_001205119.1	NP_001192048.1	O75143	ATG13_HUMAN	autophagy related 13						autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TTCCCATCAAGTGAGTCCATA	0.423000													34	123					0	0	0.834066	0	0
NUF2	83540	broad.mit.edu	37	1	163298697	163298697	+	Splice_Site	SNP	A	A	C			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr1:163298697A>C	ENST00000271452.3	+	5	616	c.337_splice	c.e5+1	p.K113_splice	NUF2_ENST00000524800.1_Splice_Site_p.K113_splice|NUF2_ENST00000367900.3_Splice_Site_p.K113_splice|NUF2_ENST00000490881.1_3'UTR	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	113	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCTATGTCCAAGTAAGTGAGA	0.323000													7	59					0	0	0.307466	0	0
ATP1B2	482	broad.mit.edu	37	17	7558889	7558889	+	Silent	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr17:7558889C>T	ENST00000250111.4	+	6	1061	c.654C>T	c.(652-654)ccC>ccT	p.P218P		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	218					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		TCATGTTCCCCGCCAACGGCA	0.587000													5	57					0	0	0.217242	0	0
SLC35B2	347734	broad.mit.edu	37	6	44222572	44222572	+	Silent	SNP	G	G	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr6:44222572G>T	ENST00000393812.3	-	4	1313	c.1170C>A	c.(1168-1170)gtC>gtA	p.V390V	SLC35B2_ENST00000537814.1_Silent_p.V257V|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000538577.1_Silent_p.V297V	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	390					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCACCACAGTGACAGTGTGGC	0.602000													8	52					0.00621372	0.00652754	0.335167	1	0
RAD54L2	23132	broad.mit.edu	37	3	51671500	51671500	+	Silent	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr3:51671500C>T	ENST00000409535.1	+	10	1788	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L	RAD54L2_ENST00000296477.3_Silent_p.L249L	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	555						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCACAGTCTTCTGGAGGGCTT	0.542000													13	16					0	0	0.479597	0	0
TMBIM4	51643	broad.mit.edu	37	12	66531832	66531832	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr12:66531832C>T	ENST00000358230.3	-	7	745	c.625G>A	c.(625-627)Gag>Aag	p.E209K	TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000544599.1_Missense_Mutation_p.E32K|TMBIM4_ENST00000542724.1_Missense_Mutation_p.E178K|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000286424.7_Missense_Mutation_p.E256K	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	209						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)		AATACGTACTCTTCAGGTGAC	0.413000													17	188					0	0	0.575678	0	0
HRNR	388697	broad.mit.edu	37	1	152188597	152188597	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr1:152188597delC	ENST00000368801.2	-	3	5583	c.5508delG	c.(5506-5508)ggfs	p.G1836fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1836					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGAACCGGACCCATGTCGGC	0.612													21	174	---	---	---	---					
LOC339529	339529	broad.mit.edu	37	1	244142899	244142899	+	RNA	DEL	T	T	-	rs74162728		TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr1:244142899delT	ENST00000440494.1	+	0	235					NR_033883.1																						GCCAGGAGTGTGGGGGGGTGG	0.701													2	4	---	---	---	---					
SETD2	29072	broad.mit.edu	37	3	47164506	47164507	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr3:47164506_47164507delTC	ENST00000409792.3	-	3	1661_1662	c.1619_1620delGA	c.(1618-1620)cfs	p.R541fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATGACCCTCGTCGGAATCCCAG	0.356			"""N, F, S, Mis"""		clear cell renal carcinoma								102	62	---	---	---	---					
PPP1R17	10842	broad.mit.edu	37	7	31735179	31735179	+	Frame_Shift_Del	DEL	A	A	-			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr7:31735179delA	ENST00000342032.3	+	3	807	c.179delA	c.(178-180)cafs	p.Q60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	60					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											GAGTCAGACCAAAAAAAACCA	0.438													7	358	---	---	---	---					
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													12	253	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55241679	55241681	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr7:55241679_55241681delAAC	ENST00000275493.2	+	18	2304_2306	c.2127_2129delAAC	c.(2125-2130)gat>ga	p.ET709del	EGFR_ENST00000455089.1_In_Frame_Del_p.ET664del|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.ET656del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	709			E -> A (found in a lung cancer sample).|E -> K (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E709H(2)|p.T710A(1)|p.E709_T710>D(1)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.E709fs*1(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCTTGAAGGAAACTGAATTCAAA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			95	79	---	---	---	---					
SRRM3	222183	broad.mit.edu	37	7	75915108	75915108	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr7:75915108delC	ENST00000388802.4	+	16	2119	c.1910delC	c.(1909-1911)acfs	p.T637fs	SRRM3_ENST00000326382.8_3'UTR					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						CCCTCGAGGACCCCCAGTCCC	0.711													2	4	---	---	---	---					
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccfs	p.P231fs	DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	231					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657													10	557	---	---	---	---					
ATXN7L1	222255	broad.mit.edu	37	7	105254802	105254804	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr7:105254802_105254804delGAG	ENST00000419735.3	-	10	2022_2024	c.1977_1979delCTC	c.(1975-1980)tct>tc	p.SS659del	ATXN7L1_ENST00000477775.1_In_Frame_Del_p.SS535del|ATXN7L1_ENST00000388807.4_In_Frame_Del_p.SS319del	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	659	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						CTGCAaggaagaggaggaggagg	0.517													4	6	---	---	---	---					
TSNARE1	203062	broad.mit.edu	37	8	143310866	143310868	+	In_Frame_Del	DEL	GAT	GAT	-	rs142964918		TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr8:143310866_143310868delGAT	ENST00000524325.1	-	13	1691_1693	c.1516_1518delATC	c.(1516-1518)del	p.I506del	TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	507	Poly-Ile.				vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAGGTGGCGATGATGATGATG	0.512													7	140	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													2	4	---	---	---	---					
TDRD7	23424	broad.mit.edu	37	9	100190916	100190916	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr9:100190916delC	ENST00000355295.4	+	2	464	c.169delC	c.(169-171)cafs	p.P57fs	TDRD7_ENST00000422139.2_Intron	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	57	Lotus/OST-HTH 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GAGAAGTGTGCCAGCAGTGGT	0.473													22	73	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													3	3	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89407164	89407165	+	RNA	INS	-	-	T	rs72449667		TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr11:89407164_89407165insT	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCATCAATGACTTTTTTTTTTT	0.302													2	4	---	---	---	---					
FGD6	55785	broad.mit.edu	37	12	95486540	95486542	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr12:95486540_95486542delACA	ENST00000343958.4	-	16	3903_3905	c.3680_3682delTGT	c.(3679-3684)agt>a	p.MC1227del	FGD6_ENST00000546711.1_In_Frame_Del_p.MC1227del	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1227					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CAGATCATACACATTGTGGCTCT	0.488													17	43	---	---	---	---					
TRAV24	28659	broad.mit.edu	37	14	22573825	22573826	+	RNA	INS	-	-	A	rs33991650	by1000genomes	TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr14:22573825_22573826insA	ENST00000390453.1	+	0	55																											GACTCTTTTTTAAAAAAACAGG	0.450													6	5	---	---	---	---					
EIF3CL	728689	broad.mit.edu	37	16	28403353	28403358	+	In_Frame_Del	DEL	TCCTCC	TCCTCC	-			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr16:28403353_28403358delTCCTCC	ENST00000398943.3	-	9	1018_1023	c.882_887delGGAGGA	c.(880-888)gac>ga	p.EED294del	EIF3CL_ENST00000380876.4_In_Frame_Del_p.EED294del|EIF3CL_ENST00000398944.3_In_Frame_Del_p.EED294del					eukaryotic translation initiation factor 3, subunit C-like																		GCCTTCATTGTCCTCCTCCTCCTCCT	0.549													3	4	---	---	---	---					
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)ccc>cc	p.PS612del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	612	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611													7	95	---	---	---	---					
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-69-7760-01A-11D-2167-08	TCGA-69-7760-10A-01D-2167-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	719ff71f-ec25-4f7a-9c83-b85faf121efc	7fc52bed-2a79-47f5-94db-6310e7fd3814	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atg>a	p.ML209del	SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	209						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675													7	305	---	---	---	---