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
PXDNL	137902	broad.mit.edu	37	8	52321297	52321297	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:52321297C>T	ENST00000356297.4	-	17	2987	c.2887G>A	c.(2887-2889)Gag>Aag	p.E963K	PXDNL_ENST00000543296.1_Missense_Mutation_p.E963K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	963					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCCAGATGCTCGTTGGCCCGG	0.652000													7	14					0	0	1	0	0
NFKBID	84807	broad.mit.edu	37	19	36386969	36386969	+	Silent	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:36386969G>C	ENST00000396901.1	-	9	1092	c.519C>G	c.(517-519)ctC>ctG	p.L173L	NFKBID_ENST00000606253.1_Silent_p.L173L|NFKBID_ENST00000352614.2_Silent_p.L325L	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	173					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CCCGGGGACAGAGGTCGGAAG	0.622000													12	107					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223177528	223177528	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:223177528C>T	ENST00000284476.6	+	8	2953	c.2789C>T	c.(2788-2790)aCc>aTc	p.T930I		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	930					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTCCAGAGTACCTACCTCTTC	0.483000													6	56					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10532168	10532168	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:10532168C>T	ENST00000304519.5	+	2	90	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W	RP1L1_ENST00000329335.3_Intron|C8orf74_ENST00000524025.1_3'UTR	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	21										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ACCACAAGGTCGGGAGCGCCT	0.572000													6	10					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974150	44974150	+	Missense_Mutation	SNP	C	C	T	rs150146536		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr14:44974150C>T	ENST00000340446.4	-	1	2332	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	681						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GACTGAACTTCAGCAGGGGCC	0.612000													9	40					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50157947	50157947	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:50157947G>T	ENST00000360565.3	+	9	3562	c.3438G>T	c.(3436-3438)atG>atT	p.M1146I		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1146			M -> T (in dbSNP:rs2304208).		mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GTCTGGGGATGACCCCAGCTC	0.652000													17	154					2.4624e-09	2.78358e-09	1	1	0
CHRD	8646	broad.mit.edu	37	3	184101126	184101126	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:184101126G>A	ENST00000204604.1	+	11	1486	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.D414N|CHRD_ENST00000545352.1_Missense_Mutation_p.D44N|CHRD_ENST00000450923.1_Missense_Mutation_p.D414N	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	414	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGTGGGGCTGATGCCCTGAT	0.607000													22	126					0	0	1	0	0
SLC50A1	55974	broad.mit.edu	37	1	155108444	155108444	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:155108444C>G	ENST00000368401.5	+	1	111	c.16C>G	c.(16-18)Cct>Gct	p.P6A	SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000484157.1_Intron|SLC50A1_ENST00000368404.4_Silent_p.T19T|SLC50A1_ENST00000303343.8_Silent_p.T19T	NM_001122837.1	NP_001116309.1	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	0					positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TGGTCTTCACCCTTGGCATGT	0.652000													7	38					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8592316	8592316	+	Silent	SNP	G	G	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:8592316G>T	ENST00000338257.8	-	22	2647	c.2380C>A	c.(2380-2382)Cga>Aga	p.R794R		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	794						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ACTTTCTCTCGCCCAATCACA	0.562000													4	28					0.00909568	0.00933504	1	1	0
NOD1	10392	broad.mit.edu	37	7	30491745	30491745	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr7:30491745C>T	ENST00000222823.4	-	6	1813	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	430	NACHT.				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						AGATGGACCTCAGTGACCAGG	0.622000													22	90					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93624537	93624537	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:93624537G>A	ENST00000375754.4	+	4	776	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	SYK_ENST00000375751.4_Missense_Mutation_p.E210K|SYK_ENST00000375746.1_Missense_Mutation_p.E210K|SYK_ENST00000375747.1_Missense_Mutation_p.E210K	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	210	SH2 2.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CCTGCTGCACGAAGGGAAGGT	0.587000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								5	35					0	0	1	0	0
COQ5	84274	broad.mit.edu	37	12	120960070	120960070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr12:120960070C>T	ENST00000288532.6	-	2	339	c.299G>A	c.(298-300)tGg>tAg	p.W100*	COQ5_ENST00000445328.2_Nonsense_Mutation_p.W100*	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	100					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGCATCTTCCAGAGCAGCAA	0.453000													11	54					0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206665080	206665080	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:206665080G>A	ENST00000367120.3	+	18	2206	c.1833G>A	c.(1831-1833)atG>atA	p.M611I	C1orf147_ENST00000367119.1_3'UTR|IKBKE_ENST00000537984.1_Missense_Mutation_p.M526I|IKBKE_ENST00000462698.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	611					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCAAGAGGATGAGGTAACAGC	0.582000													13	63					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126741158	126741158	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:126741158G>C	ENST00000251772.4	+	21	4269	c.4200G>C	c.(4198-4200)aaG>aaC	p.K1400N	PLXNA1_ENST00000393409.2_Missense_Mutation_p.K1423N			Q9UIW2	PLXA1_HUMAN	plexin A1	1423					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGGAGAGCAAGAACCACCCCA	0.632000													15	54					0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44286713	44286713	+	Silent	SNP	G	G	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:44286713G>T	ENST00000329255.3	-	4	1030	c.927C>A	c.(925-927)ctC>ctA	p.L309L		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	309					hair follicle development			p.L309L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CGTTGTTGCCGAGCCAGGACG	0.692000													3	23					0.115264	0.116008	1	1	0
LRRC15	131578	broad.mit.edu	37	3	194080671	194080671	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:194080671G>T	ENST00000347624.3	-	2	1187	c.1102C>A	c.(1102-1104)Cag>Aag	p.Q368K	LRRC15_ENST00000439944.2_Missense_Mutation_p.Q374K|LRRC15_ENST00000428839.1_Missense_Mutation_p.Q374K	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	368						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GAGATGTTCTGCAGGTTGGCC	0.592000													21	65					0.00188189	0.00199711	1	1	0
UGT2B11	10720	broad.mit.edu	37	4	70070367	70070367	+	Splice_Site	SNP	C	C	T	rs146890806	byFrequency	TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:70070367C>T	ENST00000446444.1	-	5	1099	c.1090_splice	c.e5-1	p.G364_splice	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	364					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTTGGATGACCTAGGATTGG	0.373000													4	82					0	0	1	0	0
ABT1	29777	broad.mit.edu	37	6	26597435	26597435	+	Silent	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:26597435C>G	ENST00000274849.1	+	1	256	c.225C>G	c.(223-225)gtC>gtG	p.V75V		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	75	RRM.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						TCGGACGCGTCTTCTTTCAGG	0.627000													17	57					0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114182777	114182777	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:114182777C>A	ENST00000535401.1	+	5	637	c.373C>A	c.(373-375)Cca>Aca	p.P125T	NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.P125T|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	125					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	AGTCAAGGGTCCAGAGAAGGA	0.537000													12	66					0.00010058	0.000108962	1	1	0
FUNDC2	65991	broad.mit.edu	37	X	154261754	154261754	+	Silent	SNP	C	C	T	rs147164809		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chrX:154261754C>T	ENST00000369498.3	+	2	464	c.210C>T	c.(208-210)ttC>ttT	p.F70F	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	70						mitochondrion				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTAAGCTGTTCGGGCAGGAAT	0.458000													28	63					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100771697	100771697	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr7:100771697C>G	ENST00000223095.4	+	2	180	c.23C>G	c.(22-24)aCc>aGc	p.T8S	SERPINE1_ENST00000445463.2_Missense_Mutation_p.T8S	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	8					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CCAGCCCTCACCTGCCTAGTC	0.617000													15	75					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155963	22155963	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:22155963T>A	ENST00000397126.4	-	4	2021	c.1873A>T	c.(1873-1875)Act>Tct	p.T625S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTATGTGTAGTAAGGGTTGAG	0.373000													8	37					0	0	1	0	0
IGFL3	388555	broad.mit.edu	37	19	46627174	46627174	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:46627174G>C	ENST00000341415.2	-	3	343	c.319C>G	c.(319-321)Cac>Gac	p.H107D	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	107						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		GGAGATAAGTGACACTGAGAC	0.517000													27	217					0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29629429	29629429	+	Silent	SNP	T	T	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr22:29629429T>G	ENST00000334018.6	+	9	1073	c.885T>G	c.(883-885)acT>acG	p.T295T	EMID1_ENST00000404755.3_Silent_p.T295T|EMID1_ENST00000404820.3_Silent_p.T295T|EMID1_ENST00000484039.1_3'UTR	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	293	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						AGGGACCCACTGGGCCTCCAG	0.572000													18	258					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40520014	40520014	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:40520014G>A	ENST00000347077.4	+	7	1053	c.837G>A	c.(835-837)ggG>ggA	p.G279G	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.G253G	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGAATGTGGGAAGGCCTTTA	0.438000													8	81					0	0	1	0	0
ZNF707	286075	broad.mit.edu	37	8	144776523	144776523	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:144776523G>C	ENST00000532205.1	+	8	1838	c.939G>C	c.(937-939)gaG>gaC	p.E313D	ZNF707_ENST00000358656.4_Missense_Mutation_p.E313D|ZNF707_ENST00000418203.2_Missense_Mutation_p.E313D|ZNF707_ENST00000532158.1_Missense_Mutation_p.E313D|ZNF707_ENST00000454097.1_Missense_Mutation_p.E313D			Q96C28	ZN707_HUMAN	zinc finger protein 707	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACAGCGGGGAGAAGCCCTACA	0.652000													5	47					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61566505	61566505	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:61566505C>G	ENST00000398571.2	-	18	2801	c.2725G>C	c.(2725-2727)Gaa>Caa	p.E909Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	909					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCCAAGTTTTCAAGGCAACCT	0.348000													4	32					0	0	1	0	0
DPP7	29952	broad.mit.edu	37	9	140007845	140007845	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:140007845C>T	ENST00000371579.2	-	5	593	c.589G>A	c.(589-591)Gac>Aac	p.D197N		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	197						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		TGGTTGGAGTCGCCGAGGCCT	0.667000													21	83					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13971306	13971306	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr7:13971306C>T	ENST00000343495.5	-	8	1307	c.569G>A	c.(568-570)cGt>cAt	p.R190H	ETV1_ENST00000403685.1_Missense_Mutation_p.R190H|ETV1_ENST00000420159.2_Missense_Mutation_p.R150H|ETV1_ENST00000242066.5_Missense_Mutation_p.R190H|ETV1_ENST00000405218.2_Missense_Mutation_p.R208H|ETV1_ENST00000405358.4_Missense_Mutation_p.R222H|ETV1_ENST00000399357.3_Missense_Mutation_p.R105H|ETV1_ENST00000405192.2_Missense_Mutation_p.R208H|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000430479.1_Missense_Mutation_p.R208H|ETV1_ENST00000403527.1_Missense_Mutation_p.R168H			P50549	ETV1_HUMAN	ets variant 1	208					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTACATAGGACGTCCTTCCCT	0.502000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								7	35					0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177733887	177733887	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:177733887C>G	ENST00000390654.3	-	3	752	c.395G>C	c.(394-396)aGa>aCa	p.R132T	COL23A1_ENST00000407622.1_Missense_Mutation_p.R105T	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	132	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		AGGGTCGCCTCTTCTCCCAGG	0.617000													4	16					0	0	1	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654814	161654814	+	RNA	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:161654814G>A	ENST00000426558.1	-	0	228					NR_002595.1																						ATATCAATGCGCGCATCTGGA	0.507000													10	22					0	0	1	0	0
GRHPR	9380	broad.mit.edu	37	9	37428508	37428508	+	Silent	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:37428508C>G	ENST00000607784.1	+	5	437	c.432C>G	c.(430-432)ctC>ctG	p.L144L	GRHPR_ENST00000318158.6_Silent_p.L144L|GRHPR_ENST00000493368.1_3'UTR			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	144					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GGAAGCCCCTCTGGCTGTGTG	0.687000													22	223					0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110300831	110300831	+	Silent	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:110300831C>T	ENST00000414000.2	+	3	800	c.561C>T	c.(559-561)aaC>aaT	p.N187N	GPR6_ENST00000275169.3_Silent_p.N172N			P46095	GPR6_HUMAN	G protein-coupled receptor 6	172						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CCCTGTATAACGCGCTCACCT	0.657000													22	93					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140356632	140356632	+	Splice_Site	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:140356632C>A	ENST00000406427.1	-	31	3980	c.3645_splice	c.e31+1	p.C1215_splice	PNPLA7_ENST00000277531.4_Splice_Site_p.C1190_splice|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Splice_Site_p.C796_splice	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1190					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGCACTCACGCAGATCTCGTT	0.662000													5	43					5.9392e-07	6.61797e-07	1	1	0
YTHDF3	253943	broad.mit.edu	37	8	64099415	64099415	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:64099415A>T	ENST00000539294.1	+	4	1159	c.843A>T	c.(841-843)aaA>aaT	p.K281N	YTHDF3_ENST00000542911.2_Missense_Mutation_p.K92N|YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	282												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GGGATGAAAAAGGGTCAGTGG	0.463000													18	61					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179603911	179603911	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:179603911G>A	ENST00000589042.1	-	48	14273	c.14049C>T	c.(14047-14049)agC>agT	p.S4683S	TTN_ENST00000342175.6_Silent_p.S4512S|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.S4445S|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Silent_p.S4366S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.S4320S|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4366	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S4320S(1)		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)			CTGTTTTTCCGCTGTCATTCA	0.363000													3	10					0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176981808	176981808	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:176981808G>C	ENST00000249501.4	+	1	502	c.247G>C	c.(247-249)Gat>Cat	p.D83H	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	83						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAGTTGGACAGATCCGAACAG	0.453000													8	66					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53848880	53848880	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:53848880C>T	ENST00000458035.1	+	3	254	c.137C>T	c.(136-138)tCc>tTc	p.S46F	ZNF845_ENST00000595091.1_Missense_Mutation_p.S46F	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AACCTGGTCTCCCTGGGTGAG	0.478000													59	121					0	0	1	0	0
COQ5	84274	broad.mit.edu	37	12	120966920	120966920	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr12:120966920G>C	ENST00000288532.6	-	1	65	c.25C>G	c.(25-27)Cta>Gta	p.L9V	COQ5_ENST00000445328.2_Missense_Mutation_p.L9V	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	9					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGCTCCATAGAGCACAGCTC	0.662000													13	42					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989614	15989614	+	Silent	SNP	G	G	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:15989614G>T	ENST00000221700.5	-	13	1625	c.1530C>A	c.(1528-1530)ggC>ggA	p.G510G	CYP4F2_ENST00000592328.1_Silent_p.G510G	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	510					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCCAAAGTCCGCCCTCTGCGC	0.617000													10	54					0.00010058	0.000108962	1	1	0
C9orf91	203197	broad.mit.edu	37	9	117400893	117400893	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:117400893G>A	ENST00000374049.4	+	8	1176	c.739G>A	c.(739-741)Gag>Aag	p.E247K	C9orf91_ENST00000288502.4_Missense_Mutation_p.E246K	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	246						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						TGCAACAGCGGAGGGGCCTGA	0.552000													23	105					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117724426	117724426	+	Silent	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:117724426C>T	ENST00000368508.3	-	6	651	c.453G>A	c.(451-453)ccG>ccA	p.P151P	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.P160P	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	151	Fibronectin type-III 1.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCACATAGGACGGTCTGGACA	0.473000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								7	30					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500249	48500249	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr15:48500249G>A	ENST00000396577.3	+	2	548	c.333G>A	c.(331-333)aaG>aaA	p.K111K	SLC12A1_ENST00000558405.1_Silent_p.K111K|SLC12A1_ENST00000330289.6_Silent_p.K111K|SLC12A1_ENST00000380993.3_Silent_p.K111K|SLC12A1_ENST00000561031.1_Silent_p.K111K	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	111					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCGTTCCCAAGATAGAGTACT	0.473000													19	65					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169529837	169529837	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:169529837C>A	ENST00000367796.3	-	4	742	c.541G>T	c.(541-543)Gat>Tat	p.D181Y	F5_ENST00000367797.3_Missense_Mutation_p.D181Y|F5_ENST00000546081.1_Missense_Mutation_p.D44Y			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	181	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GAGTTGAAATCCTCGATCAGA	0.458000													14	103					1.49906e-05	1.64685e-05	1	1	0
DHRS3	9249	broad.mit.edu	37	1	12638942	12638942	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:12638942C>T	ENST00000376223.2	-	4	885	c.502G>A	c.(502-504)Ggc>Agc	p.G168S		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	168					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	ACGATGTGGCCATTCTGCAGC	0.612000													5	30					0	0	1	0	0
SYNGR2	9144	broad.mit.edu	37	17	76168045	76168045	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:76168045G>C	ENST00000588282.1	+	3	798	c.792G>C	c.(790-792)caG>caC	p.Q264H	SYNGR2_ENST00000590201.1_3'UTR|SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000585591.1_Intron|SYNGR2_ENST00000225777.3_3'UTR|SYNGR2_ENST00000592456.1_3'UTR	NM_004710.3	NP_004701.1	O43760	SNG2_HUMAN	synaptogyrin 2	0						integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			AAGGGGGACAGAGAGGGCCCT	0.627000													28	75					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256789	63256789	+	Missense_Mutation	SNP	C	C	G	rs147211774		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:63256789C>G	ENST00000323865.3	-	1	991	c.758G>C	c.(757-759)aGt>aCt	p.S253T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	253					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCCATTCACACTCTTCTTGGG	0.647000													17	122					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171491742	171491742	+	Silent	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:171491742C>T	ENST00000176763.5	-	13	2407	c.2064G>A	c.(2062-2064)acG>acA	p.T688T		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	688							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTTTTTCTGCGTGTGCTCCT	0.602000													6	76					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64902332	64902332	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr14:64902332G>C	ENST00000555709.1	+	16	1927	c.1540G>C	c.(1540-1542)Gag>Cag	p.E514Q	MTHFD1_ENST00000216605.7_Missense_Mutation_p.E570Q|MTHFD1_ENST00000555252.1_Missense_Mutation_p.E494Q|MTHFD1_ENST00000545908.1_Missense_Mutation_p.E570Q|CTD-2555O16.2_ENST00000556640.1_RNA	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	514	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GACAGATGAAGAGATAAACAG	0.383000													11	50					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48806016	48806016	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:48806016G>A	ENST00000315396.7	-	10	1746	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	355										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTCAGCCTCCGAGTGCACCTT	0.647000													37	103					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72363343	72363343	+	Silent	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:72363343C>T	ENST00000340595.3	+	13	2164	c.1968C>T	c.(1966-1968)ttC>ttT	p.F656F	SLC4A4_ENST00000425175.1_Silent_p.F700F|SLC4A4_ENST00000351898.6_Silent_p.F700F|SLC4A4_ENST00000264485.5_Silent_p.F700F	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	700						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTATCCTCTTCTTGGGAACCT	0.378000													11	46					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44846575	44846575	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:44846575G>A	ENST00000326047.4	+	15	1893	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	KIF15_ENST00000425755.1_Missense_Mutation_p.E217K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	582					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TGCAAACACTGAGAAGTTAAA	0.323000													10	32					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112605214	112605214	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr12:112605214G>A	ENST00000550722.1	-	72	12398	c.12003C>T	c.(12001-12003)ttC>ttT	p.F4001F	HECTD4_ENST00000377560.5_Silent_p.F3975F|HECTD4_ENST00000430131.2_Silent_p.F3725F	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GCGTCTTCCAGAAGGAGGGCA	0.607000													22	88					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751882	62751882	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:62751882G>C	ENST00000377871.3	-	1	547	c.281C>G	c.(280-282)aCa>aGa	p.T94R	SLC22A6_ENST00000421062.2_Missense_Mutation_p.T94R|SLC22A6_ENST00000360421.4_Missense_Mutation_p.T94R|SLC22A6_ENST00000458333.2_Missense_Mutation_p.T94R	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	94					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATTGGCTTCTGTGCCATTGAG	0.642000													28	131					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322833	55322833	+	Missense_Mutation	SNP	A	A	T	rs112163324		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:55322833A>T	ENST00000314644.2	+	1	1051	c.1051A>T	c.(1051-1053)Atg>Ttg	p.M351L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AAAACAGGCCATGAGGAGAAT	0.333000										HNSCC(20;0.049)			14	42					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20145695	20145695	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:20145695G>A	ENST00000345530.3	-	17	1845	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	WDR35_ENST00000281405.4_Missense_Mutation_p.T566M|WDR35_ENST00000416055.2_Missense_Mutation_p.T142M	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	577										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTACTGTCCGTTACTCGAGC	0.398000													40	62					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492834	21492834	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr20:21492834C>T	ENST00000377142.4	-	2	905	c.549G>A	c.(547-549)atG>atA	p.M183I	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	183					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGGCGCGCTTCATCTTGTAGC	0.677000													16	68					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87150144	87150144	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr7:87150144G>C	ENST00000265724.3	-	23	3151	c.2734C>G	c.(2734-2736)Cag>Gag	p.Q912E	ABCB1_ENST00000543898.1_Missense_Mutation_p.Q848E|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	912	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTCTGCTCCTGAGTCAAAGAA	0.423000													9	48					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109814076	109814076	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:109814076C>T	ENST00000271332.3	+	27	7806	c.7745C>T	c.(7744-7746)tCt>tTt	p.S2582F	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2582					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCACTGCTCTCTGTCAACAGC	0.637000													31	136					0	0	1	0	0
MSTO1	55154	broad.mit.edu	37	1	155717369	155717369	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:155717369G>A	ENST00000452804.2	+	7	637	c.576G>A	c.(574-576)ctG>ctA	p.L192L	MSTO1_ENST00000538143.1_3'UTR			Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	192					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CAGGTCGGCTGGAGGCTTTTG	0.537000													5	39					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231149061	231149061	+	Splice_Site	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:231149061G>C	ENST00000392045.3	+	16	1613	c.1498_splice	c.e16-1	p.R500_splice	SP140_ENST00000343805.6_Splice_Site_p.R440_splice|SP140_ENST00000486687.2_Splice_Site_p.R424_splice|SP140_ENST00000350136.5_Splice_Site_p.R369_splice|SP140_ENST00000417495.3_Splice_Site_p.R386_splice|SP140_ENST00000420434.3_Splice_Site_p.R473_splice	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	500					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGTTTGAAGGAAAAAAGAGG	0.348000													7	20					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113649148	113649148	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:113649148T>A	ENST00000297405.5	-	22	3857	c.3613A>T	c.(3613-3615)Acc>Tcc	p.T1205S	CSMD3_ENST00000343508.3_Missense_Mutation_p.T1165S|CSMD3_ENST00000455883.2_Missense_Mutation_p.T1101S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1205S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1205	Sushi 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATGAGAAGGTCAGAGTGTCA	0.473000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	92					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93118418	93118418	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr14:93118418G>A	ENST00000216487.7	+	6	1183	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	342	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GATGACCTGCGAGAGACTCCC	0.697000													9	67					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088981	9088981	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:9088981G>A	ENST00000397910.4	-	1	3037	c.2834C>T	c.(2833-2835)aCg>aTg	p.T945M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	945	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATTGTTGCCGTCCCAGTGAG	0.478000													23	75					0	0	1	0	0
LARP7	51574	broad.mit.edu	37	4	113568609	113568609	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:113568609G>A	ENST00000509061.1	+	9	1225	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	MIR302B_ENST00000505215.1_RNA|LARP7_ENST00000344442.5_Missense_Mutation_p.E301K|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.E301K	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	301	Lys-rich.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AAGCAGCTCTGAAGATGCAGA	0.413000													14	61					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6187370	6187370	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:6187370C>G	ENST00000588304.1	+	12	1913	c.1467C>G	c.(1465-1467)atC>atG	p.I489M	ACSBG2_ENST00000588485.1_Missense_Mutation_p.I352M|ACSBG2_ENST00000591403.1_Missense_Mutation_p.I539M|ACSBG2_ENST00000586696.1_Missense_Mutation_p.I539M|ACSBG2_ENST00000252669.5_Missense_Mutation_p.I539M|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	539					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGATCCCCATCATCAGTAACG	0.473000													24	82					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44450114	44450114	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:44450114C>A	ENST00000360029.3	-	1	710	c.427G>T	c.(427-429)Gtc>Ttc	p.V143F	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	143						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						AGCAGCTTGACCAAGTCGGTG	0.627000										HNSCC(17;0.042)			7	34					0.000157383	0.000169323	1	1	0
LRRC37B	114659	broad.mit.edu	37	17	30348463	30348463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:30348463G>T	ENST00000327564.7	+	1	440	c.379G>T	c.(379-381)Gaa>Taa	p.E127*	LRRC37B_ENST00000341671.7_Nonsense_Mutation_p.E100*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.E100*|LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.E112*|LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.E18*			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	100						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATTCCTGAAGGAATTGGATTC	0.557000													48	159					1.30916e-28	1.5241e-28	1	1	0
IGF2R	3482	broad.mit.edu	37	6	160464220	160464220	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:160464220G>A	ENST00000356956.1	+	12	1669	c.1521G>A	c.(1519-1521)acG>acA	p.T507T		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	507					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCAGTCAGACGGAAACAGAGA	0.468000													16	103					0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217842395	217842395	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:217842395G>A	ENST00000366933.4	+	4	316	c.261G>A	c.(259-261)atG>atA	p.M87I		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	87						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ATACTATGATGATGAATCTCT	0.318000													10	88					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)		TGACTGCTTGTAGATGGCCAT	0.622000		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)			17	78					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154002767	154002767	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:154002767C>T	ENST00000496811.1	-	18	2121	c.2041G>A	c.(2041-2043)Gat>Aat	p.D681N	DHX36_ENST00000544526.1_Missense_Mutation_p.D667N|DHX36_ENST00000308361.6_Missense_Mutation_p.D681N|DHX36_ENST00000329463.5_Missense_Mutation_p.D667N	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	681						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCTTGTTTATCCAAAGCGTTC	0.378000													18	57					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85974237	85974237	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr10:85974237G>A	ENST00000372117.3	+	17	2543	c.2440G>A	c.(2440-2442)Gtc>Atc	p.V814I	CDHR1_ENST00000440770.2_Missense_Mutation_p.V518I|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	814	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CGTGCCTACTGTCTCTGGCTC	0.622000													36	184					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375526	175375526	+	Missense_Mutation	SNP	C	C	G	rs149339053		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:175375526C>G	ENST00000367674.1	-	3	1033	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	TNR_ENST00000263525.2_Missense_Mutation_p.E109Q	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	109					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E109K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCTGGCTCTCGTGGTCTGAG	0.587000													15	105					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418304	38418304	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:38418304G>A	ENST00000322350.5	+	12	1977	c.1631G>A	c.(1630-1632)aGa>aAa	p.R544K	EGFLAM_ENST00000354891.3_Missense_Mutation_p.R544K|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R310K|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	544	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AATGGGAGGAGAATTGACATG	0.562000													23	47					0	0	1	0	0
GK	2710	broad.mit.edu	37	X	30686182	30686182	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chrX:30686182A>G	ENST00000378943.3	+	3	385	c.206A>G	c.(205-207)gAg>gGg	p.E69G	GK_ENST00000378945.3_Missense_Mutation_p.E69G|GK_ENST00000427190.1_5'UTR|GK_ENST00000378941.3_Missense_Mutation_p.E69G|GK_ENST00000378946.3_Missense_Mutation_p.E69G	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	69					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						GAGTGTATAGAGAAAACATGT	0.333000													10	25					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7662351	7662351	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:7662351C>A	ENST00000572933.1	+	15	3817	c.2357C>A	c.(2356-2358)gCa>gAa	p.A786E	DNAH2_ENST00000389173.2_Missense_Mutation_p.A786E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	786	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGCATCGGGCAGCTGTACAG	0.507000													7	50					0.0293803	0.0299564	1	1	0
C6	729	broad.mit.edu	37	5	41142954	41142954	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:41142954T>C	ENST00000263413.3	-	18	3042	c.2778A>G	c.(2776-2778)atA>atG	p.I926M	C6_ENST00000337836.5_Missense_Mutation_p.I926M	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	926	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAGGATGCAGTATTTCCATCT	0.413000													24	44					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59368279	59368279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr15:59368279C>T	ENST00000348370.4	+	7	2246	c.1813C>T	c.(1813-1815)Cag>Tag	p.Q605*	RNF111_ENST00000559209.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000557998.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.Q605*	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	605					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q605*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CTTTGGCCATCAGGCCGCTGC	0.557000													24	119					0	0	1	0	0
NFKB1	4790	broad.mit.edu	37	4	103533614	103533614	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:103533614G>C	ENST00000226574.4	+	22	2910	c.2443G>C	c.(2443-2445)Gat>Cat	p.D815H	NFKB1_ENST00000505458.1_Missense_Mutation_p.D814H|NFKB1_ENST00000600343.1_Missense_Mutation_p.D634H|NFKB1_ENST00000394820.4_Missense_Mutation_p.D814H	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	814	Death.|Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GCTGGCTGAAGATGTGAAGCT	0.448000													12	51					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207202	58207202	+	Silent	SNP	C	C	T	rs141382823	byFrequency	TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr13:58207202C>T	ENST00000377918.3	+	1	548	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	174	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCACGCGCGACGATCACGGCC	0.647000													4	24					0	0	1	0	0
PIGT	51604	broad.mit.edu	37	20	44045292	44045292	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr20:44045292C>A	ENST00000279036.6	+	2	403	c.323C>A	c.(322-324)tCa>tAa	p.S108*	PIGT_ENST00000341555.5_Intron|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000372689.5_Nonsense_Mutation_p.S108*|PIGT_ENST00000535404.1_5'UTR|PIGT_ENST00000543458.2_Nonsense_Mutation_p.S108*|PIGT_ENST00000279035.9_Intron	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	108					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CAGGCCCCATCAGGTGCAGAG	0.582000													8	41					0.0381472	0.0386426	1	1	0
KRT12	3859	broad.mit.edu	37	17	39020020	39020020	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:39020020G>A	ENST00000251643.4	-	4	927	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	302	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TACTGCGCCCGCATATCATTG	0.552000													13	56					0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104233472	104233472	+	Silent	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr10:104233472C>A	ENST00000238936.4	+	8	1308	c.1071C>A	c.(1069-1071)ctC>ctA	p.L357L	TMEM180_ENST00000366277.2_Silent_p.L86L	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	357						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGGACCACCTCAGCCTGCTGT	0.652000													22	104					6.33239e-15	7.26362e-15	1	1	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and 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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			11	65					0	0	1	0	0
CDK9	1025	broad.mit.edu	37	9	130548517	130548517	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:130548517C>G	ENST00000373265.2	+	1	441	c.441C>G	c.(439-441)ttC>ttG	p.F147L	CDK9_ENST00000480353.1_3'UTR|CDK9_ENST00000373264.4_Missense_Mutation_p.F30L			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	30	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						AAGGCACCTTCGGGTAAGGCT	0.647000													20	97					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42720295	42720295	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr15:42720295C>T	ENST00000263805.4	-	12	5176	c.4850G>A	c.(4849-4851)cGg>cAg	p.R1617Q	ZNF106_ENST00000565611.1_Missense_Mutation_p.R802Q|ZNF106_ENST00000565380.1_Missense_Mutation_p.R845Q	NM_022473.1	NP_071918.1			zinc finger protein 106																		GCAGAGGACCCGGTCTTCCAG	0.483000													19	59					0	0	1	0	0
LINC00482	284185	broad.mit.edu	37	17	79278484	79278484	+	RNA	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:79278484C>A	ENST00000332012.5	-	0	1109					NR_038080.1																						CAGGGTCCCTCACCTGCTCCC	0.627000													4	12					0.00024832	0.000265328	1	1	0
CACNA1I	8911	broad.mit.edu	37	22	40060134	40060134	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr22:40060134G>A	ENST00000336649.4	+	23	3654	c.3654G>A	c.(3652-3654)acG>acA	p.T1218T	CACNA1I_ENST00000402142.3_Silent_p.T1212T|CACNA1I_ENST00000400164.3_Silent_p.T1177T|CACNA1I_ENST00000401624.1_Silent_p.T1212T|CACNA1I_ENST00000407673.1_Silent_p.T1177T|CACNA1I_ENST00000404898.1_Silent_p.T1177T			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1212					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACATCTTCACGGCCATCTTCG	0.632000													3	26					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	152055756	152055756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr7:152055756G>A	ENST00000355193.2	-	2	384	c.166C>T	c.(166-168)Cga>Tga	p.R56*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R56*					lysine (K)-specific methyltransferase 2C									p.R56*(2)									CCCCTACTTCGAGGTCTACAG	0.358000													14	84					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168108057	168108057	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:168108057T>A	ENST00000409195.1	+	9	10244	c.10155T>A	c.(10153-10155)agT>agA	p.S3385R	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S3163R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S3385R|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3210					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAACACGAGTTTTACAGACT	0.383000													18	83					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187738	42187738	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:42187738G>A	ENST00000006724.3	-	3	885	c.684C>T	c.(682-684)gaC>gaT	p.D228D	CEACAM7_ENST00000401731.1_Silent_p.D228D|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	228	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GGGTGACTGGGTCACTGCGGC	0.547000													35	193					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27427083	27427083	+	Silent	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:27427083C>T	ENST00000263980.3	-	12	2738	c.2163G>A	c.(2161-2163)ccG>ccA	p.P721P	SLC9A1_ENST00000545949.1_Silent_p.P382P	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	721					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GCGGGGAAGCCGGGTCGATGG	0.617000													20	325					0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93221956	93221956	+	Silent	SNP	A	A	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr10:93221956A>T	ENST00000371681.4	+	5	710	c.615A>T	c.(613-615)acA>acT	p.T205T	HECTD2_ENST00000298068.5_Intron|HECTD2_ENST00000446394.1_Intron|HECTD2_ENST00000536715.1_Intron	NM_173497.2	NP_775768.2	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GTATTATGACATGCAAGTAAT	0.313000													10	58					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064249	7064249	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:7064249C>G	ENST00000299481.4	+	4	1338	c.992C>G	c.(991-993)tCt>tGt	p.S331C		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	331	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTAGGAATGTCTGAGGATGCA	0.398000													27	86					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187549314	187549314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:187549314C>A	ENST00000441802.2	-	9	5013	c.4804G>T	c.(4804-4806)Gag>Tag	p.E1602*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1602	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTACCTGACTCGATCGAGTAC	0.448000										HNSCC(5;0.00058)			3	9					0.004672	0.0048267	1	1	0
SLC25A2	83884	broad.mit.edu	37	5	140683010	140683010	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:140683010C>G	ENST00000239451.4	-	1	602	c.423G>C	c.(421-423)gaG>gaC	p.E141D		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	141					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TCCCTGACATCTCCATTTCAT	0.517000													9	122					0	0	1	0	0
AVPR2	554	broad.mit.edu	37	X	153171135	153171135	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chrX:153171135C>A	ENST00000358927.2	+	3	384	c.175C>A	c.(175-177)Ctg>Atg	p.L59M	AVPR2_ENST00000337474.5_Missense_Mutation_p.L59M|AVPR2_ENST00000370049.1_Missense_Mutation_p.L59M			P30518	V2R_HUMAN	arginine vasopressin receptor 2	59			L -> P (in XNDI).		activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGCCTGGTGCTGGCGGCCCT	0.692000													9	41					1.08611e-07	1.21894e-07	1	1	0
ZBTB45	84878	broad.mit.edu	37	19	59028362	59028362	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:59028362C>T	ENST00000594051.1	-	2	1159	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	ZBTB45_ENST00000354590.3_Missense_Mutation_p.G227S|ZBTB45_ENST00000600990.1_Missense_Mutation_p.G227S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TCGCCTGGGCCGCCACCTTCG	0.657000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	185	398					0	0	1	0	0
CLDN16	10686	broad.mit.edu	37	3	190106151	190106151	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:190106151C>G	ENST00000264734.2	+	1	491	c.243C>G	c.(241-243)ttC>ttG	p.F81L	CLDN16_ENST00000456423.1_Missense_Mutation_p.F81L|CLDN16_ENST00000468220.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	81					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TCGCTTGCTTCTTTGCCTTTT	0.517000													25	196					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146480607	146480607	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:146480607G>A	ENST00000392299.2	+	3	1294	c.824G>A	c.(823-825)cGc>cAc	p.R275H	GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000282753.1_Missense_Mutation_p.R275H|GRM1_ENST00000355289.4_Missense_Mutation_p.R275H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	275					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R275H(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CGACTCTTGCGCAAACTCCGA	0.577000													4	81					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123038541	123038541	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:123038541C>T	ENST00000462833.1	-	10	3448	c.2236G>A	c.(2236-2238)Gag>Aag	p.E746K	ADCY5_ENST00000309879.5_Missense_Mutation_p.E396K|ADCY5_ENST00000491190.1_Missense_Mutation_p.E379K	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	746					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGTCAGGCTCCCTGAAGGTC	0.582000													9	25					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	354374	354374	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr16:354374C>T	ENST00000262320.3	-	5	1555	c.1184G>A	c.(1183-1185)cGc>cAc	p.R395H	AXIN1_ENST00000354866.3_Missense_Mutation_p.R395H|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	395	Interaction with GSK3B (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.R395P(1)|p.R395fs*18(1)|p.?(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AGCCTCCAGGCGGTGGATGAG	0.701000													13	60					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80223150	80223150	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:80223150C>T	ENST00000392959.1	-	4	1110	c.499G>A	c.(499-501)Gag>Aag	p.E167K	LCA5_ENST00000369846.4_Missense_Mutation_p.E167K|LCA5_ENST00000467898.2_Missense_Mutation_p.E167K	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	167					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GCTGTAATCTCATTGTTATGA	0.353000													10	49					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73748648	73748648	+	Silent	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:73748648C>T	ENST00000200181.3	+	32	4285	c.4098C>T	c.(4096-4098)tcC>tcT	p.S1366S	ITGB4_ENST00000579662.1_Silent_p.S1366S|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Silent_p.S1366S|ITGB4_ENST00000449880.2_Silent_p.S1366S|ITGB4_ENST00000339591.3_Silent_p.S1366S	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1366					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAGCGTCTCCGATGACACTG	0.612000													25	106					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56015684	56015684	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:56015684G>A	ENST00000327381.5	+	1	736	c.636G>A	c.(634-636)ccG>ccA	p.P212P		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	212						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTTCCACGCCGCAAAGGCAAG	0.682000													4	71					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80884001	80884001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr15:80884001G>T	ENST00000533983.1	+	19	2317	c.1978G>T	c.(1978-1980)Gag>Tag	p.E660*	ARNT2_ENST00000303329.4_Nonsense_Mutation_p.E671*|ARNT2_ENST00000527771.1_Nonsense_Mutation_p.E660*			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	671					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCAGAGCGGTGAGCAGCACTC	0.602000													29	104					2.46105e-21	2.84388e-21	1	1	0
CROCCP2	84809	broad.mit.edu	37	1	16959826	16959826	+	RNA	SNP	C	C	T	rs12023653	by1000genomes	TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:16959826C>T	ENST00000412962.1	-	0	31																											GCTCCCCTCCCAGCTGCAGCG	0.642000													3	15					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C	rs79096325		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967																				breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000													3	20					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38189606	38189606	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:38189606G>A	ENST00000394126.1	-	6	1156	c.738C>T	c.(736-738)ctC>ctT	p.L246L	MED24_ENST00000394127.2_Silent_p.L208L|MED24_ENST00000501516.3_Silent_p.L240L|MED24_ENST00000356271.3_Silent_p.L208L|MED24_ENST00000394128.2_Silent_p.L221L			O75448	MED24_HUMAN	mediator complex subunit 24	221					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ACCTCCTAATGAGGGTGCCAC	0.612000													7	20					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157557303	157557303	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:157557303C>A	ENST00000271532.1	-	5	745	c.610G>T	c.(610-612)Gag>Tag	p.E204*	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	204	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GAATTCCCCTCTGTAGGCTGA	0.478000													25	111					7.92952e-12	9.02924e-12	1	1	0
FJX1	24147	broad.mit.edu	37	11	35640755	35640755	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:35640755G>C	ENST00000317811.4	+	1	1021	c.571G>C	c.(571-573)Gag>Cag	p.E191Q		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	191						extracellular space		p.E191K(2)		lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				GATTCAGGGCGAGGCCCTGTC	0.731000													3	22					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53420641	53420641	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr13:53420641C>T	ENST00000377942.3	-	1	2134	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E	PCDH8_ENST00000338862.4_Missense_Mutation_p.G644E	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	644	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCCGTTGGCTCCCTCGTCTGC	0.706000													7	35					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19295145	19295145	+	Splice_Site	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:19295145G>C	ENST00000328405.2	+	2	342		c.e2-1			NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8							integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTTTTCTATAGATAGCAACTT	0.428000													25	77					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78214811	78214811	+	Splice_Site	SNP	G	G	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr13:78214811G>T	ENST00000535157.1	+	29	1883	c.1712_splice	c.e29-1	p.R571_splice	SCEL_ENST00000349847.3_Splice_Site_p.R613_splice|SCEL_ENST00000377246.3_Splice_Site_p.R593_splice	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	613					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ATTTCTATAGGTCTGTCATTG	0.318000													4	23					0.150653	0.150653	1	1	0
PRSS48	345062	broad.mit.edu	37	4	152203467	152203467	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:152203467C>T	ENST00000455694.2	+	3	385	c.383C>T	c.(382-384)tCt>tTt	p.S128F	PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	128	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						ACCTTCACTTCTGCCATCCTG	0.483000													20	89					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105026752	105026752	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:105026752G>A	ENST00000507740.1	+	17	2921	c.2685G>A	c.(2683-2685)ggG>ggA	p.G895G	RIMS2_ENST00000262231.10_Silent_p.G920G|RIMS2_ENST00000436393.2_Silent_p.G821G|RIMS2_ENST00000406091.3_Silent_p.G1081G	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1143	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTCGTACTGGGTCTGTCCAGA	0.423000										HNSCC(12;0.0054)			13	31					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61511051	61511051	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:61511051G>A	ENST00000257215.5	+	20	2335	c.2219G>A	c.(2218-2220)cGg>cAg	p.R740Q		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	740					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCGGAGGGGCGGCTGCTGTCG	0.687000													38	200					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390514	107390514	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:107390514G>A	ENST00000429433.2	-	5	2530	c.1881C>T	c.(1879-1881)aaC>aaT	p.N627N	BEND3_ENST00000369042.1_Silent_p.N627N	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	627	BEN 3.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGACGCGGTCGTTTTTGGCGC	0.647000													12	49					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70598236	70598236	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chrX:70598236G>A	ENST00000449580.1	+	7	1133	c.1082G>A	c.(1081-1083)gGg>gAg	p.G361E	TAF1_ENST00000423759.1_Missense_Mutation_p.G382E|TAF1_ENST00000373790.4_Missense_Mutation_p.G361E|TAF1_ENST00000276072.3_Missense_Mutation_p.G382E			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	361	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATGGCAGTGGGTTTGACTAT	0.443000													7	184					0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396346	38396346	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:38396346G>A	ENST00000377698.3	+	2	754	c.601G>A	c.(601-603)Gcc>Acc	p.A201T		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	201					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.A201T(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CCCGGCACTCGCCACAGGCAA	0.597000													35	133					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098862	78098862	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:78098862G>C	ENST00000370801.3	-	5	653	c.178C>G	c.(178-180)Cag>Gag	p.Q60E	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTTCCTTTCTGAATTGGCACA	0.403000													27	112					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103354904	103354904	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:103354904G>C	ENST00000520539.1	-	9	1501	c.895C>G	c.(895-897)Ctt>Gtt	p.L299V	UBR5_ENST00000220959.4_Missense_Mutation_p.L299V|UBR5_ENST00000521922.1_Intron	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	299					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTAAGGGAAGAAGGAGAACT	0.443000													4	52					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886728	123886728	+	Silent	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:123886728C>A	ENST00000320891.4	+	1	447	c.447C>A	c.(445-447)ctC>ctA	p.L149L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCACTTGGCTCAGTGGCTCTC	0.562000													59	198					3.31162e-33	3.8843e-33	1	1	0
HIST1H1C	3006	broad.mit.edu	37	6	26056263	26056263	+	Missense_Mutation	SNP	C	C	A	rs139623473		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:26056263C>A	ENST00000343677.2	-	1	436	c.394G>T	c.(394-396)Gtt>Ttt	p.V132F		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	132					nucleosome assembly	nucleosome|nucleus	DNA binding	p.V132L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCTGCCCCAACTGGCTTCTTA	0.587000													21	117					3.83957e-06	4.24803e-06	1	1	0
PRKG1	5592	broad.mit.edu	37	10	53893658	53893658	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr10:53893658G>C	ENST00000373980.4	+	8	1411	c.994G>C	c.(994-996)Gac>Cac	p.D332H	PRKG1_ENST00000373975.2_Missense_Mutation_p.D35H|PRKG1_ENST00000401604.2_Missense_Mutation_p.D317H|PRKG1_ENST00000373985.1_Missense_Mutation_p.D305H	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	317					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CCTTGTGATTGACAGAGAGTA	0.333000													7	22					0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916886	42916886	+	Silent	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:42916886C>T	ENST00000316161.4	-	1	747	c.423G>A	c.(421-423)gaG>gaA	p.E141E	CYP8B1_ENST00000437102.1_Silent_p.E141E|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	141					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCAGCATGGTCTCATTAAGAT	0.512000													13	58					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147470777	147470777	+	Silent	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:147470777C>A	ENST00000359874.3	+	8	725	c.652C>A	c.(652-654)Cga>Aga	p.R218R	SPINK5_ENST00000256084.7_Silent_p.R218R|SPINK5_ENST00000398454.1_Silent_p.R218R|SPINK5_ENST00000476608.1_3'UTR	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	218					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAATTCGACGAAATGCTGA	0.333000													7	22					0.00448238	0.00466168	1	1	0
CCDC36	339834	broad.mit.edu	37	3	49282283	49282283	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:49282283G>A	ENST00000366429.2	+	5	679	c.600G>A	c.(598-600)agG>agA	p.R200R	CCDC36_ENST00000451634.2_Silent_p.R190R|CCDC36_ENST00000438782.1_Intron|CCDC36_ENST00000296449.5_Intron|CCDC36_ENST00000452691.2_Intron			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	0										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CAGATGAGAGGATGGGTATAT	0.507000													3	7					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75472209	75472209	+	RNA	SNP	C	C	T	rs11537690	by1000genomes	TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:75472209C>T	ENST00000459803.1	-	0	932					NR_024241.1																						GATCCCAGCCCGGCCTGGAAA	0.572000													3	33					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39144302	39144307	+	In_Frame_Del	DEL	TGGGAA	TGGGAA	-			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:39144302_39144307delTGGGAA	ENST00000297668.6	-	11	1759_1764	c.1686_1691delTTCCCA	c.(1684-1692)tgg>tg	p.CSQ562del	CNTNAP3_ENST00000377659.1_In_Frame_Del_p.CSQ562del|CNTNAP3_ENST00000377656.2_In_Frame_Del_p.CSQ562del|CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000358144.2_In_Frame_Del_p.CSQ474del	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	562	EGF-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTCCCACGACTGGGAACACTCGCCCC	0.505													7	9	---	---	---	---					
OR5A1	219982	broad.mit.edu	37	11	59210716	59210717	+	Frame_Shift_Ins	INS	-	-	CTCC			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:59210716_59210717insCTCC	ENST00000302030.2	+	1	100_101	c.75_76insCTCC	c.(73-78)gatccafs	p.P26fs		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACCATCCAGAACTCCAGGCCCT	0.530													23	105	---	---	---	---					
C17orf97	400566	broad.mit.edu	37	17	263586	263645	+	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	rs71369083	byFrequency	TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	ENST00000360127.6	+	2	968_1027	c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	c.(952-1011)del	p.DPEALKGFHPDPKALKGFHP318del	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	348	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G334G(4)|p.P327P(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTTCCACACTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGG	0.681													47	80	---	---	---	---					
SPAG4	6676	broad.mit.edu	37	20	34207177	34207210	+	Frame_Shift_Del	DEL	TCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	TCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	-			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr20:34207177_34207210delTCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	ENST00000374273.3	+	9	966_999	c.854_887delTCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	c.(853-888)tgfs	p.FWNRFSFWNYAR285fs		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	285	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	p.W286*(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			ACTGCCTACTTCTGGAATCGCTTCAGCTTCTGGAACTACGCACGGCCGCCCACG	0.598													7	168	---	---	---	---					
