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
MYOM1	8736	broad.mit.edu	37	18	3134707	3134707	+	Silent	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr18:3134707C>A	ENST00000400569.3	-	16	2658	c.2325G>T	c.(2323-2325)gcG>gcT	p.A775A	MYOM1_ENST00000261606.7_Silent_p.A775A|MYOM1_ENST00000356443.4_Silent_p.A775A			P52179	MYOM1_HUMAN	myomesin 1	775	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGCAACGCTCGCCTCTATGT	0.567000													6	45					5.9392e-07	8.31488e-07	0.217242	1	0
FBN2	2201	broad.mit.edu	37	5	127664387	127664387	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:127664387C>T	ENST00000508989.1	-	33	4590	c.4373G>A	c.(4372-4374)gGt>gAt	p.G1458D	FBN2_ENST00000508053.1_Splice_Site|FBN2_ENST00000507835.1_Missense_Mutation_p.G341D|FBN2_ENST00000262464.4_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2	2380	EGF-like 24; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGGTGACCCACCTTGGCAGGA	0.507000													3	26					0	0	0.115264	0	0
CSMD3	114788	broad.mit.edu	37	8	113301663	113301663	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr8:113301663G>T	ENST00000297405.5	-	57	9323	c.9079C>A	c.(9079-9081)Ctt>Att	p.L3027I	CSMD3_ENST00000352409.3_Missense_Mutation_p.L2957I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2987I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2858I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3027	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGCCTAAAAGGGAACGCTTT	0.468000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	76					1.85244e-09	2.95113e-09	0.279207	1	0
BRINP1	1620	broad.mit.edu	37	9	122011272	122011272	+	Nonsense_Mutation	SNP	G	G	T	rs115548564	by1000genomes	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:122011272G>T	ENST00000265922.3	-	3	836	c.375C>A	c.(373-375)taC>taA	p.Y125*	DBC1_ENST00000373964.2_Nonsense_Mutation_p.Y125*	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		125	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGTGGGTGCCGTACTTTTTGA	0.562000													15	37					0.00316338	0.00356459	0.132662	1	0
PRKAG3	53632	broad.mit.edu	37	2	219689032	219689032	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:219689032C>A	ENST00000439262.2	-	12	1286	c.1191G>T	c.(1189-1191)agG>agT	p.R397S	PRKAG3_ENST00000529249.1_Missense_Mutation_p.R422S|PRKAG3_ENST00000545803.1_Missense_Mutation_p.R238S	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	422	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGTCCTCTGCCTCAGGGCTT	0.602000													5	26					0.014758	0.0160806	0.184627	1	0
SEC14L1	6397	broad.mit.edu	37	17	75192328	75192328	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:75192328A>T	ENST00000413679.2	+	8	1057	c.754A>T	c.(754-756)Act>Tct	p.T252S	SEC14L1_ENST00000436233.4_Missense_Mutation_p.T252S|SEC14L1_ENST00000443798.4_Missense_Mutation_p.T252S|SEC14L1_ENST00000591437.1_Missense_Mutation_p.T218S|SEC14L1_ENST00000430767.4_Missense_Mutation_p.T252S|SEC14L1_ENST00000585618.1_Missense_Mutation_p.T252S|SEC14L1_ENST00000392476.2_Missense_Mutation_p.T252S|SEC14L1_ENST00000431431.2_Missense_Mutation_p.T218S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	252					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GGGCGATTTGACTCCGCTGCA	0.512000													4	56					0	0	0.217242	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	36					0	0	0.150653	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413985	139413985	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:139413985C>T	ENST00000277541.6	-	5	850	c.775G>A	c.(775-777)Gac>Aac	p.D259N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	259	EGF-like 7; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGACAATCGTCGATATTTTCC	0.627000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			12	164					0	0	0.080935	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172549360	172549360	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:172549360A>T	ENST00000534253.2	+	3	350	c.182A>T	c.(181-183)gAa>gTa	p.E61V	DYNC1I2_ENST00000358002.6_Missense_Mutation_p.E61V|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.E61V|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.E61V|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.E61V|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.E61V|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.E61V|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.E61V|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.E61V|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.E61V|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.E61V			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	61					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			AGAGAAGCTGAAGCATTGCTT	0.383000													5	11					0	0	0.184627	0	0
CCDC70	83446	broad.mit.edu	37	13	52439850	52439850	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr13:52439850G>T	ENST00000242819.4	+	2	632	c.336G>T	c.(334-336)aaG>aaT	p.K112N		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	112						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AAATGGAAAAGTCTTTCAGGG	0.468000													15	107					1.5739e-10	2.54245e-10	0.146539	1	0
AMBP	259	broad.mit.edu	37	9	116836424	116836424	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:116836424T>C	ENST00000265132.3	-	4	608	c.346A>G	c.(346-348)Ata>Gta	p.I116V		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	116					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TCCATGGTTATGTTCCATTCT	0.493000													9	30					0	0	0.069234	0	0
SDC2	6383	broad.mit.edu	37	8	97605786	97605786	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr8:97605786G>T	ENST00000302190.4	+	2	1060	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	SDC2_ENST00000519914.1_Missense_Mutation_p.D18Y|SDC2_ENST00000518385.1_Intron|SDC2_ENST00000522911.1_Missense_Mutation_p.D18Y	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	47						integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GTATCCTATTGATGACGATGA	0.478000													12	65					1.5842e-08	2.42351e-08	0.105934	1	0
KRTAP5-AS1	338651	broad.mit.edu	37	11	1619623	1619623	+	RNA	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:1619623C>G	ENST00000424148.1	+	0	1474					NR_021489.1																						ACTGTTTACACTATTTTTCCA	0.448000													5	38					0	0	0.184627	0	0
OR2T11	127077	broad.mit.edu	37	1	248790268	248790268	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:248790268G>T	ENST00000330803.2	-	1	223	c.162C>A	c.(160-162)acC>acA	p.T54T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGTACATGGGGGTGTGGAGGC	0.478000													18	27					2.5808e-16	4.55087e-16	0.175082	1	0
OR8S1	341568	broad.mit.edu	37	12	48919740	48919740	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:48919740G>T	ENST00000310194.1	+	1	326	c.326G>T	c.(325-327)gGg>gTg	p.G109V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GTCACTGCAGGGACTGAAGCC	0.522000													12	72					2.27111e-07	3.25855e-07	0.093190	1	0
ZDHHC15	158866	broad.mit.edu	37	X	74644525	74644525	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:74644525T>G	ENST00000541184.1	-	7	1148	c.671A>C	c.(670-672)tAc>tCc	p.Y224S	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000373367.3_Missense_Mutation_p.Y233S	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	233						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CCAACAATGGTAACCAAAGAG	0.393000													3	21					0	0	0.115264	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502251	140502251	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:140502251C>G	ENST00000194152.1	+	1	671	c.671C>G	c.(670-672)aCg>aGg	p.T224R		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		224	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTCTGGCACGGTCATGGTT	0.547000													10	89					0	0	0.069234	0	0
IQSEC2	23096	broad.mit.edu	37	X	53280041	53280041	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:53280041G>A	ENST00000396435.3	-	5	1917	c.1717C>T	c.(1717-1719)Cgc>Tgc	p.R573C	IQSEC2_ENST00000375365.2_Missense_Mutation_p.R368C|IQSEC2_ENST00000375368.5_Missense_Mutation_p.R563C	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	563	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GGACCCCTGCGAGTGCCTTCC	0.677000													8	18					0	0	0.278610	0	0
CCDC89	220388	broad.mit.edu	37	11	85396655	85396655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:85396655C>A	ENST00000316398.3	-	1	665	c.519G>T	c.(517-519)gaG>gaT	p.E173D		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	173						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATACTTTCGCCTCCTCATCCT	0.552000													21	105					8.10497e-08	1.2079e-07	0.219247	1	0
ZNF655	79027	broad.mit.edu	37	7	99170705	99170705	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:99170705A>G	ENST00000424881.1	+	4	1299	c.1079A>G	c.(1078-1080)cAc>cGc	p.H360R	ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.H325R|ZNF655_ENST00000252713.4_Missense_Mutation_p.H325R|ZNF655_ENST00000493277.1_Missense_Mutation_p.H360R	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	325					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CAGAAAATTCACAAAGAGATG	0.413000													21	101					0	0	0.249174	0	0
CMYA5	202333	broad.mit.edu	37	5	79025009	79025009	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:79025009G>T	ENST00000446378.2	+	2	452	c.421G>T	c.(421-423)Ggt>Tgt	p.G141C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	141						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTCAAAGCATGGTTCACCATC	0.403000													9	70					0.0581538	0.0616217	0.058154	1	0
RYR1	6261	broad.mit.edu	37	19	39001314	39001314	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:39001314G>T	ENST00000355481.4	+	60	9146	c.9015G>T	c.(9013-9015)ttG>ttT	p.L3005F	RYR1_ENST00000359596.3_Missense_Mutation_p.L3005F|RYR1_ENST00000360985.3_Missense_Mutation_p.L3005F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3005					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCTCCCTTTGATCAACCAGT	0.562000													54	186					2.83923e-41	5.28921e-41	0.139131	1	0
PDK3	5165	broad.mit.edu	37	X	24523382	24523382	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:24523382G>C	ENST00000441463.2	+	5	562	c.562G>C	c.(562-564)Gat>Cat	p.D188H	PDK3_ENST00000379162.4_Missense_Mutation_p.D188H	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	188	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGGAAGTATCGATCCCACCTG	0.453000													8	72					0	0	0.058154	0	0
KIF2B	84643	broad.mit.edu	37	17	51900628	51900628	+	Silent	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:51900628G>A	ENST00000268919.4	+	1	390	c.234G>A	c.(232-234)ctG>ctA	p.L78L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	78					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCATACTCCTGCTGAATCCAG	0.567000													13	134					0	0	0.119110	0	0
OR10V1	390201	broad.mit.edu	37	11	59480650	59480650	+	Silent	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:59480650C>A	ENST00000307552.2	-	1	687	c.669G>T	c.(667-669)gtG>gtT	p.V223V		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AAATGGCTACCACGATGAAGA	0.517000													9	75					0.0692343	0.073028	0.069234	1	0
OR4N4	283694	broad.mit.edu	37	15	22382661	22382661	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr15:22382661G>T	ENST00000328795.4	+	1	280	c.189G>T	c.(187-189)ctG>ctT	p.L63L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATTTATTTCTGGGCAACTTGG	0.458000													30	270					1.41504e-22	2.59423e-22	0.301197	1	0
ADK	132	broad.mit.edu	37	10	76158301	76158301	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr10:76158301G>A	ENST00000372734.3	+	6	655	c.468G>A	c.(466-468)tgG>tgA	p.W156*	ADK_ENST00000541550.1_Nonsense_Mutation_p.W138*|ADK_ENST00000286621.2_Nonsense_Mutation_p.W173*|ADK_ENST00000539909.1_Nonsense_Mutation_p.W173*	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	173					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	AGAAAAACTGGATGTTGGTAG	0.328000													3	30					0	0	0.150653	0	0
SI	6476	broad.mit.edu	37	3	164735759	164735759	+	Splice_Site	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr3:164735759C>T	ENST00000264382.3	-	29	3581	c.3520_splice	c.e29+1	p.M1173_splice		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1173	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTGTTTTACCCATTGCATTGC	0.343000										HNSCC(35;0.089)			4	52					0	0	0.150653	0	0
ZNF208	7757	broad.mit.edu	37	19	22155240	22155240	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:22155240A>G	ENST00000397126.4	-	4	2744	c.2596T>C	c.(2596-2598)Tgt>Cgt	p.C866R	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)				GCTTTGCCACATTCTTCACAT	0.363000													7	57					0	0	0.248553	0	0
ACTN2	88	broad.mit.edu	37	1	236898975	236898975	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:236898975G>T	ENST00000366578.4	+	8	904	c.738G>T	c.(736-738)atG>atT	p.M246I	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Intron|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	246	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGCCATCATGACGTACGTCT	0.522000													5	64					3.59834e-05	4.59235e-05	0.217242	1	0
C1orf64	149563	broad.mit.edu	37	1	16332490	16332490	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:16332490G>T	ENST00000329454.2	+	2	227	c.159G>T	c.(157-159)aaG>aaT	p.K53N		NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	53										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACGGGAAGCAGCTCTCCC	0.572000													23	199					1.10513e-12	1.8771e-12	0.249174	1	0
ALPPL2	251	broad.mit.edu	37	2	233272329	233272329	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:233272329C>A	ENST00000295453.3	+	4	378	c.326C>A	c.(325-327)cCa>cAa	p.P109Q		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	109					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	AAGCATGTGCCAGACAGTGGA	0.567000													3	29					2.56e-06	3.43814e-06	0.150653	1	0
SCAMP3	10067	broad.mit.edu	37	1	155227303	155227303	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:155227303C>G	ENST00000355379.3	-	5	863	c.585G>C	c.(583-585)atG>atC	p.M195I	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Missense_Mutation_p.M221I	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	221					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAGCCTTATACATGGGGCGGT	0.547000													3	27					0	0	0.115264	0	0
MYO16	23026	broad.mit.edu	37	13	109365023	109365023	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr13:109365023A>C	ENST00000356711.2	+	3	367	c.241A>C	c.(241-243)Aag>Cag	p.K81Q	MYO16_ENST00000251041.5_Missense_Mutation_p.K81Q|MYO16_ENST00000357550.2_Missense_Mutation_p.K81Q	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	81					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCGGCTCCTGAAGGAGGGGGC	0.557000													8	82					0	0	0.047766	0	0
COL17A1	1308	broad.mit.edu	37	10	105819901	105819901	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr10:105819901C>A	ENST00000353479.5	-	14	1407	c.1117G>T	c.(1117-1119)Gcc>Tcc	p.A373S	COL17A1_ENST00000393211.3_Missense_Mutation_p.A373S|COL17A1_ENST00000369733.3_Missense_Mutation_p.A373S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	373	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCAGGGGAGGCTGTAAAGACC	0.517000													11	62					0.010729	0.0119154	0.080935	1	0
SVOPL	136306	broad.mit.edu	37	7	138312982	138312982	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:138312982G>C	ENST00000421622.1	-	7	838	c.630C>G	c.(628-630)agC>agG	p.S210R	SVOPL_ENST00000419765.3_Missense_Mutation_p.S330R|SVOPL_ENST00000288513.5_Missense_Mutation_p.S178R|SVOPL_ENST00000436657.1_Missense_Mutation_p.S178R			Q8N434	SVOPL_HUMAN	SVOP-like	330						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AGGGGCTCTGGCTCTCCCCTG	0.572000													6	36					0	0	0.217242	0	0
FGD5	152273	broad.mit.edu	37	3	14861995	14861995	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr3:14861995G>A	ENST00000285046.5	+	1	1527	c.1417G>A	c.(1417-1419)Gcg>Acg	p.A473T	FGD5_ENST00000543601.1_Missense_Mutation_p.A232T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	473					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTGGTTCCCGCGGACAGGAA	0.642000													4	39					0	0	0.150653	0	0
SLC17A1	6568	broad.mit.edu	37	6	25811900	25811900	+	Silent	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:25811900G>A	ENST00000244527.4	-	9	1111	c.996C>T	c.(994-996)agC>agT	p.S332S	SLC17A1_ENST00000468082.1_Silent_p.S278S|SLC17A1_ENST00000427328.1_Silent_p.S278S|SLC17A1_ENST00000476801.1_Silent_p.S332S	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	332					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.S332R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CAGCAATTACGCTGAGAATAT	0.463000													7	63					0	0	0.047766	0	0
TBC1D23	55773	broad.mit.edu	37	3	100016840	100016840	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr3:100016840G>T	ENST00000394144.4	+	9	957	c.950G>T	c.(949-951)tGt>tTt	p.C317F	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.C317F|TBC1D23_ENST00000475134.1_Missense_Mutation_p.C180F	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	317						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						CAGGCTCTTTGTCTGGCCATC	0.403000													5	24					0.000602214	0.000702583	0.184627	1	0
HIST2H2BB	338391	broad.mit.edu	37	1	149375105	149375105	+	RNA	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:149375105C>T	ENST00000415338.1	-	0	1061																											GCTTTACTATCGAAATGGCAA	0.468000													12	131					0	0	0.189662	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	RNA	SNP	T	T	A	rs141013493	by1000genomes	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269000													8	132					0	0	0.069234	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338767	151338767	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:151338767C>A	ENST00000426705.2	-	7	1097	c.953G>T	c.(952-954)cGc>cTc	p.R318L	SELENBP1_ENST00000368868.5_Missense_Mutation_p.R276L|SELENBP1_ENST00000447402.3_Missense_Mutation_p.R214L|SELENBP1_ENST00000435071.1_Missense_Mutation_p.R212L	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	276					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTTGTAGAAGCGCTGGATGGT	0.572000													34	132					3.11337e-16	5.44841e-16	0.173368	1	0
ABCA1	19	broad.mit.edu	37	9	107578428	107578428	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:107578428T>C	ENST00000374736.3	-	25	4128	c.3734A>G	c.(3733-3735)gAa>gGa	p.E1245G		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1245					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACTTACTTCTTCCAGGGTCGT	0.488000													37	151					0	0	0.235728	0	0
TNN	63923	broad.mit.edu	37	1	175086110	175086110	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:175086110G>A	ENST00000239462.4	+	10	2268	c.2155G>A	c.(2155-2157)Gtg>Atg	p.V719M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	719	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GACCGACCGGGTGACAGAGAA	0.527000													21	121					0	0	0.249174	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581442	140581442	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:140581442T>C	ENST00000354757.3	+	1	2095	c.2095T>C	c.(2095-2097)Tcg>Ccg	p.S699P	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S334P	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		699					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGTGTCTTCGCTCTTCCT	0.687000													15	178					0	0	0.146539	0	0
C8A	731	broad.mit.edu	37	1	57349256	57349256	+	Missense_Mutation	SNP	G	G	T	rs141666945		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:57349256G>T	ENST00000361249.3	+	6	853	c.757G>T	c.(757-759)Ggc>Tgc	p.G253C		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	253	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGTGACCATCGGCATAGGCCC	0.428000													7	69					8.12818e-05	0.000100407	0.248553	1	0
PRR5L	79899	broad.mit.edu	37	11	36472822	36472822	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:36472822G>T	ENST00000378867.3	+	9	1004	c.649G>T	c.(649-651)Gtg>Ttg	p.V217L	PRR5L_ENST00000311599.5_Missense_Mutation_p.V144L|PRR5L_ENST00000530639.1_Missense_Mutation_p.V217L|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000389693.3_3'UTR	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	217										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GGTGAAGCAAGTGGTTTCTCC	0.542000													6	71					0.0215528	0.0230495	0.217242	1	0
KIAA1109	84162	broad.mit.edu	37	4	123277052	123277052	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr4:123277052A>T	ENST00000264501.4	+	83	14780	c.14407A>T	c.(14407-14409)Aac>Tac	p.N4803Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.N4803Y			Q2LD37	K1109_HUMAN	KIAA1109	4803					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCTAGCTACAACCATGAAAC	0.398000													7	53					0	0	0.248553	0	0
FGD5	152273	broad.mit.edu	37	3	14861996	14861996	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr3:14861996C>G	ENST00000285046.5	+	1	1528	c.1418C>G	c.(1417-1419)gCg>gGg	p.A473G	FGD5_ENST00000543601.1_Missense_Mutation_p.A232G	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	473					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CTGGTTCCCGCGGACAGGAAG	0.642000													4	45					0	0	0.150653	0	0
AASDH	132949	broad.mit.edu	37	4	57220214	57220214	+	Silent	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr4:57220214A>G	ENST00000205214.6	-	8	1554	c.1374T>C	c.(1372-1374)ctT>ctC	p.L458L	AASDH_ENST00000502617.1_Silent_p.L458L|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_Silent_p.L305L|AASDH_ENST00000513376.1_Silent_p.L358L|AASDH_ENST00000451613.1_Silent_p.L458L	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	458					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CCTGTTGCACAAGTTCAATGT	0.358000													5	41					0	0	0.217242	0	0
SPRTN	83932	broad.mit.edu	37	1	231474216	231474216	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:231474216G>T	ENST00000391858.4	+	1	1367	c.87G>T	c.(85-87)ctG>ctT	p.L29L	SPRTN_ENST00000008440.9_Silent_p.L29L|SPRTN_ENST00000295050.7_Silent_p.L29L					SprT-like N-terminal domain																		AGGAGTCCCTGTCGCTAGTGG	0.582000													16	91					2.62699e-14	4.52861e-14	0.132662	1	0
ALX1	8092	broad.mit.edu	37	12	85677595	85677595	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:85677595G>T	ENST00000316824.3	+	2	627	c.472G>T	c.(472-474)Gat>Tat	p.D158Y		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	158					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TCATTACCCGGATGTGTATGT	0.498000													13	103					4.14922e-12	6.89546e-12	0.146539	1	0
PSG6	5675	broad.mit.edu	37	19	43411932	43411932	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:43411932A>T	ENST00000187910.2	-	4	846	c.781T>A	c.(781-783)Tgt>Agt	p.C261S	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.C261S	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TTAGGTTCACAGGTGAAGGCT	0.488000													16	285					0	0	0.146539	0	0
VENTX	27287	broad.mit.edu	37	10	135053795	135053795	+	Silent	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr10:135053795G>A	ENST00000325980.9	+	3	1273	c.762G>A	c.(760-762)acG>acA	p.T254T		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	254					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		TGCCACAGACGGGGGATGCAT	0.657000													3	30					0	0	0.115264	0	0
OR52J3	119679	broad.mit.edu	37	11	5068356	5068356	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:5068356G>A	ENST00000380370.1	+	1	601	c.601G>A	c.(601-603)Ggg>Agg	p.G201R		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTATCTATGGGCTTTTTGT	0.448000													18	102					0	0	0.189662	0	0
AGTR1	185	broad.mit.edu	37	3	148458972	148458972	+	Silent	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr3:148458972G>A	ENST00000542281.1	+	4	596	c.150G>A	c.(148-150)gtG>gtA	p.V50V	AGTR1_ENST00000474935.1_Silent_p.V50V|AGTR1_ENST00000402260.1_Silent_p.V50V|AGTR1_ENST00000418473.2_Silent_p.V50V|AGTR1_ENST00000349243.3_Silent_p.V50V|AGTR1_ENST00000461609.1_Silent_p.V50V|AGTR1_ENST00000475347.1_Silent_p.V50V|AGTR1_ENST00000404754.2_Silent_p.V50V|AGTR1_ENST00000497524.1_Silent_p.V50V	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	50					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GCTTGGTGGTGATAGTCATTT	0.363000													10	62					0	0	0.069234	0	0
SOS1	6654	broad.mit.edu	37	2	39240608	39240608	+	Silent	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:39240608T>A	ENST00000426016.1	-	14	2246	c.2160A>T	c.(2158-2160)acA>acT	p.T720T	SOS1_ENST00000402219.2_Silent_p.T720T|SOS1_ENST00000395038.2_Silent_p.T720T			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	720	N-terminal Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TACCTCTTACTGTTCCAATAA	0.343000									Noonan syndrome				9	78					0	0	0.058154	0	0
RANBP6	26953	broad.mit.edu	37	9	6012550	6012550	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:6012550T>C	ENST00000259569.5	-	1	3068	c.3058A>G	c.(3058-3060)Act>Gct	p.T1020A		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	1020					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AAACTCAAAGTCTGAATAGCT	0.363000													9	51					0	0	0.047766	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526316	176526316	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:176526316G>T	ENST00000367662.3	+	2	2022	c.858G>T	c.(856-858)gcG>gcT	p.A286A	PAPPA2_ENST00000367661.3_Silent_p.A286A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	286					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCGGGAGGCGTTCACAGTGG	0.572000													4	23					0.150653	0.156058	0.150653	1	0
SYT9	143425	broad.mit.edu	37	11	7441739	7441739	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:7441739T>A	ENST00000318881.6	+	6	1577	c.1340T>A	c.(1339-1341)gTa>gAa	p.V447E		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	447	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TTTCACAGTGTAGGTCACAAT	0.433000													12	79					0	0	0.105934	0	0
HSD3B2	3284	broad.mit.edu	37	1	119965138	119965138	+	Silent	SNP	G	G	A	rs116342586	by1000genomes	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:119965138G>A	ENST00000543831.1	+	4	1263	c.1014G>A	c.(1012-1014)gcG>gcA	p.A338A	HSD3B2_ENST00000369416.3_Silent_p.A338A	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	338					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.A338A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GAGATCTGGCGTATAAGCCAC	0.517000													4	60					0	0	0.150653	0	0
GPR31	2853	broad.mit.edu	37	6	167570485	167570485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:167570485G>T	ENST00000366834.1	-	1	1332	c.835C>A	c.(835-837)Ccc>Acc	p.P279T		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	279						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		TATACCACGGGGTTGAGCACA	0.602000													8	85					0.27861	0.287317	0.278610	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558333	140558333	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:140558333G>T	ENST00000239444.2	+	1	963	c.718G>T	c.(718-720)Gcc>Tcc	p.A240S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		240	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGATAATGCCCCTGAATT	0.507000													26	391					1.17739e-12	1.98524e-12	0.108266	1	0
ABCB1	5243	broad.mit.edu	37	7	87190601	87190601	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:87190601C>T	ENST00000265724.3	-	9	1222	c.805G>A	c.(805-807)Gga>Aga	p.G269R	ABCB1_ENST00000543898.1_Missense_Mutation_p.G205R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	269	ABC transmembrane type-1 1.				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)	TTCTTTTGTCCTCCAAATGCA	0.353000													6	26					0	0	0.217242	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130766994	130766994	+	Silent	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:130766994C>A	ENST00000509018.1	-	26	4228	c.4023G>T	c.(4021-4023)tcG>tcT	p.S1341S	RAPGEF6_ENST00000507093.1_Silent_p.S1349S|RAPGEF6_ENST00000296859.6_Silent_p.S1349S|RAPGEF6_ENST00000307984.5_Silent_p.S1354S|FNIP1_ENST00000514667.1_Silent_p.S1391S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1341	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGCTCACAGACGATGAGACAG	0.423000													8	77					5.4927e-09	8.51553e-09	0.047766	1	0
NLRP12	91662	broad.mit.edu	37	19	54313519	54313519	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:54313519G>T	ENST00000324134.6	-	3	1562	c.1394C>A	c.(1393-1395)gCg>gAg	p.A465E	NLRP12_ENST00000345770.5_Missense_Mutation_p.A465E|NLRP12_ENST00000391772.1_Missense_Mutation_p.A465E|NLRP12_ENST00000391773.1_Missense_Mutation_p.A465E|NLRP12_ENST00000391775.3_Missense_Mutation_p.A465E|NLRP12_ENST00000354278.3_Missense_Mutation_p.A465E|NLRP12_ENST00000351894.4_Missense_Mutation_p.A465E|NLRP12_ENST00000535162.1_Missense_Mutation_p.A465E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	465	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCATCTGCCGCCAAGGAGCA	0.597000													10	76					3.86212e-05	4.87513e-05	0.069234	1	0
BMP15	9210	broad.mit.edu	37	X	50659497	50659497	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:50659497T>G	ENST00000252677.3	+	2	1069	c.1069T>G	c.(1069-1071)Tgt>Ggt	p.C357G		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	357					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCGGCCCTCCTGTGTCCCGTA	0.463000													13	89					0	0	0.105934	0	0
NLRP10	338322	broad.mit.edu	37	11	7981383	7981383	+	Silent	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:7981383A>G	ENST00000328600.2	-	2	1937	c.1776T>C	c.(1774-1776)aaT>aaC	p.N592N		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	592							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATTTCTTTTCATTTGAATGTT	0.373000													6	41					0	0	0.248553	0	0
SLC3A1	6519	broad.mit.edu	37	2	44547565	44547565	+	Silent	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:44547565C>G	ENST00000260649.6	+	10	1921	c.1845C>G	c.(1843-1845)ccC>ccG	p.P615P	SLC3A1_ENST00000409740.3_Silent_p.P246P|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000409411.1_3'UTR|SLC3A1_ENST00000409380.1_Silent_p.P337P|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000541738.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	615			P -> T (in CSNU1).		carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CGGGCCTTCCCGCTAAAATGA	0.408000													8	75					0	0	0.278610	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143692	142143692	+	RNA	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:142143692G>A	ENST00000390373.2	-	0	303																											GTCTGAGAGGGAGCAGCTGAC	0.527000													8	133					0	0	0.278610	0	0
KCNK9	51305	broad.mit.edu	37	8	140630797	140630797	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr8:140630797C>T	ENST00000520439.1	-	2	892	c.829G>A	c.(829-831)Gag>Aag	p.E277K	KCNK9_ENST00000303015.1_Missense_Mutation_p.E277K			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	277						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGCGGCTCCTCAGGGATGTGA	0.642000													4	51					0	0	0.150653	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121701174	121701174	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:121701174T>A	ENST00000393386.2	+	30	7259	c.6848T>A	c.(6847-6849)gTg>gAg	p.V2283E	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.V1416E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2283					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTCAGCCTTGTGAGCACAAGG	0.428000													13	42					0	0	0.105934	0	0
DMD	1756	broad.mit.edu	37	X	31165576	31165576	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:31165576G>T	ENST00000357033.4	-	75	10819	c.10613C>A	c.(10612-10614)cCa>cAa	p.P3538Q	DMD_ENST00000378723.3_Missense_Mutation_p.P470Q|DMD_ENST00000378702.4_Missense_Mutation_p.P470Q|DMD_ENST00000541735.1_Missense_Mutation_p.P968Q|DMD_ENST00000361471.4_Missense_Mutation_p.P457Q|DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000343523.2_Missense_Mutation_p.P968Q|DMD_ENST00000359836.1_Missense_Mutation_p.P1065Q|DMD_ENST00000378677.2_Missense_Mutation_p.P3534Q|DMD_ENST00000378707.3_Missense_Mutation_p.P1078Q|DMD_ENST00000474231.1_Missense_Mutation_p.P1078Q|DMD_ENST00000378680.2_Missense_Mutation_p.P360Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3538					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGACGGCAGTGGGGACAGGCC	0.498000													3	34					0.115264	0.12048	0.115264	1	0
MOXD1	26002	broad.mit.edu	37	6	132695862	132695862	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:132695862G>A	ENST00000367963.3	-	2	437	c.319C>T	c.(319-321)Cat>Tat	p.H107Y	MOXD1_ENST00000336749.3_Missense_Mutation_p.H39Y	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	107	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TATTCTAGATGGTAATCTTGC	0.338000													9	67					0	0	0.058154	0	0
DGKA	1606	broad.mit.edu	37	12	56334126	56334126	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:56334126G>T	ENST00000331886.5	+	11	1281	c.827G>T	c.(826-828)gGc>gTc	p.G276V	DGKA_ENST00000551156.1_Missense_Mutation_p.G276V|DGKA_ENST00000394147.1_Missense_Mutation_p.G276V|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	276					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GTGCGAGGAGGCTGTGAGTCC	0.597000											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	111					0.000157383	0.000189352	0.278610	1	0
SPOPL	339745	broad.mit.edu	37	2	139308546	139308546	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:139308546A>C	ENST00000280098.4	+	4	653	c.274A>C	c.(274-276)Agc>Cgc	p.S92R		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	92	MATH.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GCTTTTAGTCAGCTGCCCCAA	0.368000													6	96					0	0	0.278610	0	0
CLCNKB	1188	broad.mit.edu	37	1	16375569	16375569	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:16375569G>A	ENST00000375667.3	+	1	286	c.103G>A	c.(103-105)Ggt>Agt	p.G35S	CLCNKB_ENST00000375679.4_Intron	NM_001165945.2	NP_001159417.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TACAGTCACAGGTGGGTGGGG	0.637000													8	49					0	0	0.278610	0	0
CDH22	64405	broad.mit.edu	37	20	44806629	44806629	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr20:44806629G>C	ENST00000372262.3	-	10	2271	c.1871C>G	c.(1870-1872)cCc>cGc	p.P624R	CDH22_ENST00000537909.1_Missense_Mutation_p.P624R	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	624					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GAGGGCGCCGGGGCTGAGGGA	0.652000													4	33					0	0	0.217242	0	0
GDA	9615	broad.mit.edu	37	9	74860078	74860078	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:74860078G>A	ENST00000358399.3	+	12	1243	c.1150G>A	c.(1150-1152)Ggt>Agt	p.G384S	GDA_ENST00000238018.4_Missense_Mutation_p.G384S|GDA_ENST00000545168.1_Missense_Mutation_p.G310S|GDA_ENST00000376986.1_Missense_Mutation_p.G306S|GDA_ENST00000376989.3_Missense_Mutation_p.G323S	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	384					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGGGCTGGATGGTGAGATTGG	0.448000													24	89					0	0	0.099896	0	0
ZNF600	162966	broad.mit.edu	37	19	53268994	53268994	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:53268994T>A	ENST00000338230.3	-	3	2282	c.2015A>T	c.(2014-2016)gAc>gTc	p.D672V		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AAAAGTCTTGTCACAAACCTT	0.388000													17	74					0	0	0.146539	0	0
TMEM200B	399474	broad.mit.edu	37	1	29447669	29447669	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:29447669G>T	ENST00000420504.2	-	2	829	c.672C>A	c.(670-672)taC>taA	p.Y224*	TMEM200B_ENST00000521452.1_Nonsense_Mutation_p.Y224*	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	224	Pro-rich.					integral to membrane				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		CCTTCAGCGGGTAGCTGTTGA	0.647000													3	24					0.004672	0.00521368	0.115264	1	0
CACNG6	59285	broad.mit.edu	37	19	54515349	54515349	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:54515349T>A	ENST00000252729.2	+	4	1279	c.689T>A	c.(688-690)aTc>aAc	p.I230N	CACNG6_ENST00000352529.1_Missense_Mutation_p.I159N|CACNG6_ENST00000346968.2_Missense_Mutation_p.I184N	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	230						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GCCGGCCTGATCCTGCTGTTG	0.716000													14	70					0	0	0.119110	0	0
VEGFC	7424	broad.mit.edu	37	4	177609073	177609073	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr4:177609073G>T	ENST00000280193.2	-	5	1128	c.713C>A	c.(712-714)gCa>gAa	p.A238E	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	238					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTTGTTCGCTGCCTGACACCT	0.448000													10	35					7.48243e-07	1.04123e-06	0.058154	1	0
GRIN3A	116443	broad.mit.edu	37	9	104433094	104433094	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:104433094C>T	ENST00000361820.3	-	3	2200	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	534					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CACAAGCCTTCATCATCTACC	0.473000													26	57					0	0	0.279207	0	0
TXLNB	167838	broad.mit.edu	37	6	139591742	139591742	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:139591742G>T	ENST00000358430.3	-	4	770	c.538C>A	c.(538-540)Caa>Aaa	p.Q180K		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	180						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AACTTCTTTTGCTCAGTACGA	0.408000													3	34					0.115264	0.12048	0.115264	1	0
GPR78	27201	broad.mit.edu	37	4	8588864	8588864	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr4:8588864C>A	ENST00000382487.4	+	3	1283	c.866C>A	c.(865-867)gCc>gAc	p.A289D	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	289					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						AAGGCGGTGGCCGACCCGTTC	0.677000													13	29					2.27111e-07	3.25855e-07	0.093190	1	0
CCDC74A	90557	broad.mit.edu	37	2	132288319	132288319	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:132288319G>C	ENST00000467992.2	+	1	1083	c.769G>C	c.(769-771)Ggt>Cgt	p.G257R	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000295171.6_Missense_Mutation_p.G155R			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	155										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCTTGCGGGCGGTAGCGCCGA	0.637000													5	70					0	0	0.184627	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													3	36					0	0	0.150653	0	0
LOC440040	440040	broad.mit.edu	37	11	49597897	49597897	+	RNA	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:49597897G>T	ENST00000527477.1	+	0	501																											CATGCTGGGTGACATCATTAT	0.498000													10	37					0.000673444	0.000781737	0.069234	1	0
RBBP8	5932	broad.mit.edu	37	18	20572760	20572760	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr18:20572760C>T	ENST00000399722.2	+	11	1321	c.970C>T	c.(970-972)Cga>Tga	p.R324*	RBBP8_ENST00000327155.5_Nonsense_Mutation_p.R324*|RBBP8_ENST00000360790.5_Nonsense_Mutation_p.R324*|RBBP8_ENST00000399725.2_Nonsense_Mutation_p.R324*	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	324					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			ATTACCTACTCGAGTGTCATC	0.338000								Homologous recombination					13	85					0	0	0.105934	0	0
SPINK5	11005	broad.mit.edu	37	5	147499581	147499581	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:147499581G>C	ENST00000359874.3	+	25	2396	c.2323G>C	c.(2323-2325)Gat>Cat	p.D775H	SPINK5_ENST00000256084.7_Missense_Mutation_p.D775H|SPINK5_ENST00000398454.1_Missense_Mutation_p.D775H	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	775	Kazal-like 12.				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)			GGATACATGTGATGAGTTTAG	0.393000													8	24					0	0	0.278610	0	0
AQP12B	653437	broad.mit.edu	37	2	241622051	241622051	+	Silent	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:241622051C>A	ENST00000407834.3	-	1	266	c.204G>T	c.(202-204)ggG>ggT	p.G68G		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	56						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCAGGTCAGGCCCAAAGTCCC	0.697000													7	42					0.000157383	0.000189352	0.278610	1	0
ZBBX	79740	broad.mit.edu	37	3	167051692	167051692	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr3:167051692C>A	ENST00000392766.2	-	10	950	c.610G>T	c.(610-612)Gag>Tag	p.E204*	ZBBX_ENST00000392764.1_Nonsense_Mutation_p.E175*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.E204*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.E204*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.E204*|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	204						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GAATTATTCTCCTCTTTGGGT	0.333000													12	40					0.00136819	0.00155691	0.093190	1	0
CD244	51744	broad.mit.edu	37	1	160801171	160801171	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:160801171C>A	ENST00000368034.4	-	9	1241	c.1064G>T	c.(1063-1065)cGc>cTc	p.R355L	CD244_ENST00000322302.7_Missense_Mutation_p.R263L|CD244_ENST00000368033.3_Missense_Mutation_p.R360L	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	360					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGCTCTTTGCGGCTCAATCG	0.463000													9	124					1.08611e-07	1.57793e-07	0.080935	1	0
SEMA6B	10501	broad.mit.edu	37	19	4550282	4550282	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:4550282G>T	ENST00000586582.1	-	12	1434	c.1124C>A	c.(1123-1125)cCc>cAc	p.P375H	SEMA6B_ENST00000586965.1_Missense_Mutation_p.P375H|SEMA6B_ENST00000301293.3_Missense_Mutation_p.P375H	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	375	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCACCCGGGCCTGGGGGT	0.597000													6	42					8.12818e-05	0.000100407	0.248553	1	0
OR8S1	341568	broad.mit.edu	37	12	48919741	48919741	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:48919741G>T	ENST00000310194.1	+	1	327	c.327G>T	c.(325-327)ggG>ggT	p.G109G	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TCACTGCAGGGACTGAAGCCT	0.522000													11	73					3.07112e-06	4.00807e-06	0.080935	1	0
GPNMB	10457	broad.mit.edu	37	7	23293804	23293804	+	Silent	SNP	G	G	A	rs149206943		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:23293804G>A	ENST00000258733.4	+	3	535	c.240G>A	c.(238-240)gcG>gcA	p.A80A	GPNMB_ENST00000409458.3_Silent_p.A80A|GPNMB_ENST00000453162.2_Silent_p.A80A|GPNMB_ENST00000381990.2_Silent_p.A80A|GPNMB_ENST00000539136.1_Intron			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	80					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GTGTGCAGGCGGTCCTGACCA	0.453000													16	106					0	0	0.146539	0	0
ATRX	546	broad.mit.edu	37	X	76855002	76855002	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:76855002C>T	ENST00000373344.5	-	25	6048	c.5834G>A	c.(5833-5835)gGa>gAa	p.G1945E	ATRX_ENST00000395603.3_Missense_Mutation_p.G1907E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1945	Poly-Ser.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACTGCCACTTCCACTTGAGCT	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						44	383					0	0	0.139131	0	0
ANO3	63982	broad.mit.edu	37	11	26677945	26677945	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:26677945C>A	ENST00000256737.3	+	26	3532	c.2680C>A	c.(2680-2682)Ccc>Acc	p.P894T	ANO3_ENST00000525139.1_Missense_Mutation_p.P878T|ANO3_ENST00000537978.1_Missense_Mutation_p.P878T|ANO3_ENST00000531568.1_Missense_Mutation_p.P748T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	894						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAGAGGCCCGCCCTGGAGTTC	0.413000													18	91					8.28177e-16	1.43841e-15	0.189662	1	0
IGKV1-17	28937	broad.mit.edu	37	2	89417046	89417046	+	RNA	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:89417046C>A	ENST00000490686.1	-	0	164																											CCTGACTTGCCCGGCAAGTGA	0.512000													17	143					8.10497e-08	1.2079e-07	0.219247	1	0
PYHIN1	149628	broad.mit.edu	37	1	158911793	158911793	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:158911793C>A	ENST00000368140.1	+	5	851	c.606C>A	c.(604-606)caC>caA	p.H202Q	PYHIN1_ENST00000392252.3_Missense_Mutation_p.H193Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.H193Q|PYHIN1_ENST00000392254.2_Missense_Mutation_p.H202Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	202	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CCAACCGTCACGCAACTGCCA	0.373000													9	54					3.86212e-05	4.87513e-05	0.069234	1	0
SUGP2	10147	broad.mit.edu	37	19	19115386	19115386	+	Silent	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:19115386T>A	ENST00000601879.1	-	7	2817	c.2520A>T	c.(2518-2520)tcA>tcT	p.S840S	SUGP2_ENST00000600377.1_Silent_p.S854S|SUGP2_ENST00000337018.6_Silent_p.S840S|SUGP2_ENST00000456085.2_Silent_p.S609S|SUGP2_ENST00000452918.2_Silent_p.S840S			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	840					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGAAACAAATTGATGGACATA	0.473000													7	99					0	0	0.278610	0	0
SACS	26278	broad.mit.edu	37	13	23909100	23909100	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr13:23909100G>T	ENST00000382298.3	-	10	9503	c.8915C>A	c.(8914-8916)cCa>cAa	p.P2972Q	SACS_ENST00000402364.1_Missense_Mutation_p.P2222Q|SACS_ENST00000382292.3_Missense_Mutation_p.P2972Q	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2972					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATATAAATCTGGCTGTAGATC	0.383000													7	92					2.7689e-08	4.20799e-08	0.248553	1	0
EFCAB5	374786	broad.mit.edu	37	17	28405333	28405333	+	Silent	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:28405333C>T	ENST00000394835.3	+	15	3030	c.2838C>T	c.(2836-2838)ctC>ctT	p.L946L	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.L822L	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	946							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGTCTGAACTCAGGGGCAATG	0.428000													8	122					0	0	0.047766	0	0
MYO9A	4649	broad.mit.edu	37	15	72190149	72190149	+	Silent	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr15:72190149G>C	ENST00000356056.5	-	25	5167	c.4695C>G	c.(4693-4695)acC>acG	p.T1565T	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Silent_p.T1565T|MYO9A_ENST00000444904.1_Silent_p.T1546T|MYO9A_ENST00000424560.1_Silent_p.T1565T|MYO9A_ENST00000566885.1_Silent_p.T1185T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1565	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCTTATTTGAGGTATTTAAGC	0.448000													10	31					0	0	0.069234	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066557	9066557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:9066557C>A	ENST00000382496.5	-	17	2940	c.2275G>T	c.(2275-2277)Ggc>Tgc	p.G759C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	759	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCACTGGTGCCGTCGCTAGAA	0.517000													12	146					0.000978159	0.00112977	0.080935	1	0
MIR523	574471	broad.mit.edu	37	19	54201716	54201716	+	RNA	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:54201716C>A	ENST00000385281.1	+	0	78					NR_030193.1																						TAGAGGGTTACCCTTTGAGAA	0.458000													7	43					0.00198382	0.00224638	0.248553	1	0
COL19A1	1310	broad.mit.edu	37	6	70812089	70812089	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:70812089G>T	ENST00000322773.4	+	16	1355	c.1253G>T	c.(1252-1254)gGa>gTa	p.G418V	COL19A1_ENST00000393344.1_Missense_Mutation_p.G40V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	418	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.G418E(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGACCTCCCGGAAAACCAGGA	0.373000													7	89					5.18039e-06	6.72287e-06	0.278610	1	0
WBSCR28	135886	broad.mit.edu	37	7	73279468	73279468	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:73279468T>A	ENST00000320531.2	+	2	254	c.218T>A	c.(217-219)cTg>cAg	p.L73Q		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	73						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GCCTGCCCCCTGGGCCAGGCT	0.672000													8	123					0	0	0.278610	0	0
FAT3	120114	broad.mit.edu	37	11	92087327	92087327	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:92087327C>A	ENST00000298047.6	+	1	2066	c.2049C>A	c.(2047-2049)tgC>tgA	p.C683*	FAT3_ENST00000541502.1_Nonsense_Mutation_p.C683*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.C683*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.C533*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	683					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTTCAGTTGCAGAGAAACTC	0.413000										TCGA Ovarian(4;0.039)			12	62					7.93312e-07	1.09734e-06	0.119110	1	0
SLC39A12	221074	broad.mit.edu	37	10	18292257	18292257	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr10:18292257G>T	ENST00000377369.2	+	12	2190	c.1917G>T	c.(1915-1917)ggG>ggT	p.G639G	SLC39A12_ENST00000377371.3_Silent_p.G638G|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Silent_p.G505G|SLC39A12_ENST00000377374.4_Silent_p.G602G	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	639					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCACTGCTGGGATGTTCTTAT	0.373000													20	103					9.7654e-05	0.00011999	0.189662	1	0
GLIPR1L2	144321	broad.mit.edu	37	12	75804431	75804431	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:75804431G>T	ENST00000550916.1	+	2	499	c.452G>T	c.(451-453)tGc>tTc	p.C151F	GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.C151F|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.C151F|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.C86F|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.C151F|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.C44F	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	151						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						AATGGCAGTTGCTCTGGAGAC	0.313000													7	40					2.0095e-06	2.71458e-06	0.248553	1	0
P2RY10	27334	broad.mit.edu	37	X	78216671	78216671	+	Silent	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:78216671C>A	ENST00000171757.2	+	4	934	c.654C>A	c.(652-654)acC>acA	p.T218T	P2RY10_ENST00000544091.1_Silent_p.T218T	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	218						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CATGGTGTACCTGGAAAACTA	0.478000													10	44					3.07112e-06	4.00807e-06	0.080935	1	0
FAF2	23197	broad.mit.edu	37	5	175927110	175927110	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:175927110G>T	ENST00000261942.6	+	10	1171	c.1118G>T	c.(1117-1119)cGa>cTa	p.R373L		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	373	UBX.				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AATGATTCTCGAGTAGAGAGA	0.438000													8	103					0.000442599	0.000521635	0.058154	1	0
SLC2A9	56606	broad.mit.edu	37	4	9836623	9836623	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr4:9836623G>T	ENST00000506583.1	-	13	1431	c.1214C>A	c.(1213-1215)cCg>cAg	p.P405Q	SLC2A9_ENST00000264784.3_Missense_Mutation_p.P434Q|SLC2A9_ENST00000309065.3_Missense_Mutation_p.P405Q			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	434					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CAAGATGAACGGGATGCCACC	0.542000													6	54					6.5536e-12	1.08134e-11	0.278610	1	0
DDX53	168400	broad.mit.edu	37	X	23019760	23019760	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:23019760G>A	ENST00000327968.5	+	1	1674	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	529	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						ATAGTATCCCGAGGTCTTGAT	0.383000													6	129					0	0	0.248553	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768461	31768461	+	Silent	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:31768461G>A	ENST00000240587.4	-	2	2565	c.2238C>T	c.(2236-2238)ccC>ccT	p.P746P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	746					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GCATGCTCATGGGGTCCAGGG	0.617000													8	66					0	0	0.047766	0	0
LAMB3	3914	broad.mit.edu	37	1	209799302	209799302	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:209799302C>G	ENST00000391911.1	-	13	2056	c.1667G>C	c.(1666-1668)cGc>cCc	p.R556P	LAMB3_ENST00000367030.3_Missense_Mutation_p.R556P|LAMB3_ENST00000356082.4_Missense_Mutation_p.R556P	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	556	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CAAGCCAGGGCGGCAGAGGCA	0.622000													7	21					0	0	0.278610	0	0
RBM19	9904	broad.mit.edu	37	12	114362517	114362517	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:114362517T>A	ENST00000545145.2	-	18	2368	c.2290A>T	c.(2290-2292)Aag>Tag	p.K764*	RBM19_ENST00000261741.5_Nonsense_Mutation_p.K764*|RBM19_ENST00000392561.3_Nonsense_Mutation_p.K764*	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	764	RRM 5.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTGTTCTTCTTCTTGGAGATG	0.448000													17	105					0	0	0.175082	0	0
COL4A6	1288	broad.mit.edu	37	X	107431764	107431764	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:107431764C>A	ENST00000394872.2	-	21	1804	c.1573G>T	c.(1573-1575)Ggc>Tgc	p.G525C	COL4A6_ENST00000545689.1_Missense_Mutation_p.G524C|COL4A6_ENST00000538570.1_Missense_Mutation_p.G524C|COL4A6_ENST00000372216.4_Missense_Mutation_p.G525C|COL4A6_ENST00000334504.7_Missense_Mutation_p.G524C			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	525	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTGCTGGGCCCTGTGCACCC	0.572000									Alport syndrome with Diffuse Leiomyomatosis				6	56					2.0095e-06	2.71458e-06	0.248553	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29417272	29417272	+	Splice_Site	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:29417272G>C	ENST00000378993.1	+	5	1223	c.549_splice	c.e5-1	p.E184_splice	IL1RAPL1_ENST00000302196.4_Splice_Site_p.E184_splice	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	184	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTTCATATAGGAATGCAGGAC	0.294000													4	68					0	0	0.184627	0	0
LRRC32	2615	broad.mit.edu	37	11	76372160	76372160	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:76372160G>T	ENST00000407242.2	-	3	719	c.477C>A	c.(475-477)aaC>aaA	p.N159K	LRRC32_ENST00000404995.1_Missense_Mutation_p.N159K|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.N159K	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	159						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGTCAGACTGTTCTCCGCCA	0.642000													8	40					3.09899e-07	4.41892e-07	0.047766	1	0
LMAN1	3998	broad.mit.edu	37	18	57026271	57026271	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr18:57026271T>A	ENST00000251047.5	-	1	923	c.206A>T	c.(205-207)cAc>cTc	p.H69L		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	69	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ACTCCCCGCGTGGGCCCAGAA	0.667000													6	53					0	0	0.248553	0	0
ZNF182	7569	broad.mit.edu	37	X	47836373	47836373	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:47836373C>A	ENST00000396965.1	-	7	1463	c.1113G>T	c.(1111-1113)aaG>aaT	p.K371N	ZNF182_ENST00000376943.3_Missense_Mutation_p.K352N|ZNF182_ENST00000305127.6_Missense_Mutation_p.K371N	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CATGGGGTTTCTTTCCTGTAT	0.363000													7	128					1.12685e-05	1.4542e-05	0.047766	1	0
KCNS2	3788	broad.mit.edu	37	8	99441377	99441377	+	Silent	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr8:99441377T>A	ENST00000287042.4	+	2	1520	c.1170T>A	c.(1168-1170)acT>acA	p.T390T	KCNS2_ENST00000521839.1_Silent_p.T390T	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	390						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GAAAGCTGACTGCCTCTGCCT	0.592000													14	97					0	0	0.105934	0	0
ASH1L	55870	broad.mit.edu	37	1	155408566	155408566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:155408566G>A	ENST00000368346.3	-	5	6019	c.5380C>T	c.(5380-5382)Cat>Tat	p.H1794Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.H1794Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1794					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.H1794delH(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTCTTGATATGATGGGGGGAA	0.433000													10	155					0	0	0.058154	0	0
IRX3	79191	broad.mit.edu	37	16	54318982	54318982	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr16:54318982C>A	ENST00000329734.3	-	2	1523	c.811G>T	c.(811-813)Gct>Tct	p.A271S		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	271					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GCCGCCCCAGCCAGGGACAGC	0.652000													10	21					3.07112e-06	4.00807e-06	0.080935	1	0
RFX6	222546	broad.mit.edu	37	6	117237203	117237203	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:117237203C>A	ENST00000332958.2	+	8	829	c.813C>A	c.(811-813)caC>caA	p.H271Q	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	271					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACAAAACTCACTGCCAGTGTA	0.333000													12	57					4.3838e-07	6.17474e-07	0.105934	1	0
RXFP3	51289	broad.mit.edu	37	5	33937383	33937383	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:33937383C>A	ENST00000330120.3	+	1	893	c.538C>A	c.(538-540)Cgc>Agc	p.R180S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	180						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GAGTGTGACGCGCTACCATTC	0.627000													6	64					2.0095e-06	2.71458e-06	0.248553	1	0
OLFML2B	25903	broad.mit.edu	37	1	161953806	161953806	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:161953806C>A	ENST00000294794.3	-	8	2335	c.1912G>T	c.(1912-1914)Gat>Tat	p.D638Y	OLFML2B_ENST00000367940.2_Missense_Mutation_p.D639Y|OLFML2B_ENST00000367938.1_Missense_Mutation_p.D121Y	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	638	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			AAGCCCTCATCGTCCAGGGCC	0.632000													6	62					0.00116845	0.00133619	0.217242	1	0
CHRNA1	1134	broad.mit.edu	37	2	175614801	175614801	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:175614801G>T	ENST00000348749.5	-	7	952	c.875C>A	c.(874-876)cCc>cAc	p.P292H	CHRNA1_ENST00000261007.5_Missense_Mutation_p.P317H|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.P210H|CHRNA1_ENST00000409219.1_Missense_Mutation_p.P292H	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	317					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TCCAATCAAGGGCACAGCACT	0.512000													10	50					3.07112e-06	4.00807e-06	0.080935	1	0
OR5T3	390154	broad.mit.edu	37	11	56020007	56020007	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:56020007T>C	ENST00000303059.3	+	1	332	c.332T>C	c.(331-333)aTg>aCg	p.M111T		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ACTCCAAAAATGTTGGTCAAT	0.358000													22	135					0	0	0.249174	0	0
GRIK2	2898	broad.mit.edu	37	6	102307276	102307276	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:102307276T>C	ENST00000369138.1	+	10	1922	c.1432T>C	c.(1432-1434)Tat>Cat	p.Y478H	GRIK2_ENST00000369137.3_Missense_Mutation_p.Y478H|GRIK2_ENST00000318991.6_Missense_Mutation_p.Y478H|GRIK2_ENST00000421544.1_Missense_Mutation_p.Y478H|GRIK2_ENST00000369134.4_Missense_Mutation_p.Y429H|GRIK2_ENST00000413795.1_Missense_Mutation_p.Y478H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	478					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGGCTTTACATATGAAATTAG	0.393000													9	56					0	0	0.058154	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162441	33162441	+	RNA	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:33162441A>G	ENST00000510327.1	-	0	346																											GGGAAGTAACAAGAAATACCG	0.537000													4	39					0	0	0.217242	0	0
SOX5	6660	broad.mit.edu	37	12	23728634	23728634	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:23728634C>A	ENST00000546136.1	-	9	1266	c.1264G>T	c.(1264-1266)Gca>Tca	p.A422S	SOX5_ENST00000309359.1_Missense_Mutation_p.A422S|SOX5_ENST00000537393.1_Missense_Mutation_p.A400S|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.A49S|SOX5_ENST00000451604.2_Missense_Mutation_p.A435S|SOX5_ENST00000545921.1_Missense_Mutation_p.A425S|SOX5_ENST00000541536.1_Intron			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	435					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCTAACGCTGCTGGGACAGAG	0.478000													14	232					2.32078e-09	3.67193e-09	0.132662	1	0
BRINP3	339479	broad.mit.edu	37	1	190067232	190067232	+	Silent	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:190067232C>G	ENST00000367462.3	-	8	2448	c.2217G>C	c.(2215-2217)gtG>gtC	p.V739V	FAM5C_ENST00000534846.1_Silent_p.V637V|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		739						extracellular region		p.V739V(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GGATCCTCACCACCTCACTAG	0.438000													12	105					0	0	0.080935	0	0
SPEF2	79925	broad.mit.edu	37	5	35649461	35649461	+	Splice_Site	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:35649461A>G	ENST00000440995.2	+	6	726		c.e6-1		SPEF2_ENST00000509059.1_Splice_Site|SPEF2_ENST00000356031.3_Splice_Site|SPEF2_ENST00000282469.6_Splice_Site			Q9C093	SPEF2_HUMAN	sperm flagellar 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTTCTTTAAAGGATGTGGCT	0.303000													8	81					0	0	0.278610	0	0
ZNF433	163059	broad.mit.edu	37	19	12127282	12127282	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:12127282A>G	ENST00000419886.2	-	5	586	c.295T>C	c.(295-297)Tat>Cat	p.Y99H	ZNF433_ENST00000344980.6_Missense_Mutation_p.Y134H|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TATTCTTGATACTCATATGCC	0.393000													5	68					0	0	0.184627	0	0
GCNT4	51301	broad.mit.edu	37	5	74325583	74325583	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:74325583C>T	ENST00000322348.4	-	1	1141	c.280G>A	c.(280-282)Gac>Aac	p.D94N		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	94					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TCAATGATGTCCCTTCTTCTT	0.403000													13	151					0	0	0.093190	0	0
EPB41L3	23136	broad.mit.edu	37	18	5434002	5434002	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr18:5434002G>A	ENST00000341928.2	-	7	1064	c.724C>T	c.(724-726)Cca>Tca	p.P242S	EPB41L3_ENST00000400111.3_Missense_Mutation_p.P242S|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P242S|EPB41L3_ENST00000544123.1_Missense_Mutation_p.P242S|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.P242S	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	242	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CATTCATCTGGGTCATAGTCT	0.527000													9	168					0	0	0.047766	0	0
HSPG2	3339	broad.mit.edu	37	1	22174314	22174314	+	Silent	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:22174314C>T	ENST00000374695.3	-	61	7972	c.7893G>A	c.(7891-7893)ccG>ccA	p.P2631P	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2631	Ig-like C2-type 12.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGATCCTGATCGGTGGGGAGA	0.627000													6	41					0	0	0.278610	0	0
COL4A2	1284	broad.mit.edu	37	13	111147722	111147722	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr13:111147722G>A	ENST00000360467.5	+	40	3974	c.3668G>A	c.(3667-3669)gGc>gAc	p.G1223D		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1223	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCTTCCCAGGCCCTCCTGGG	0.567000													10	96					0	0	0.080935	0	0
ULK1	8408	broad.mit.edu	37	12	132393327	132393327	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:132393327G>T	ENST00000321867.4	+	6	806	c.455G>T	c.(454-456)cGc>cTc	p.R152L		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	152	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCCGCCGGCCGCCGCGCCAAC	0.721000													5	26					0.00116845	0.00133619	0.217242	1	0
OBSCN	84033	broad.mit.edu	37	1	228558725	228558725	+	Splice_Site	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:228558725G>A	ENST00000570156.2	+	105	23191	c.23115_splice	c.e105-1	p.R7706_splice	OBSCN_ENST00000366707.4_Splice_Site_p.R4383_splice|OBSCN_ENST00000422127.1_Splice_Site_p.R6749_splice	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6749	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGTTCCAGCGTTCCCTGATG	0.677000													8	59					0	0	0.047766	0	0
CHPF	79586	broad.mit.edu	37	2	220404988	220404988	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:220404988G>C	ENST00000243776.6	-	4	1693	c.1445C>G	c.(1444-1446)aCt>aGt	p.T482S	CHPF_ENST00000535926.1_Missense_Mutation_p.T320S	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	482						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CACTCGGCGAGTGAGGGGCCG	0.652000													5	22					0	0	0.184627	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482386	140482386	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:140482386G>T	ENST00000231130.2	+	1	2153	c.2153G>T	c.(2152-2154)aGg>aTg	p.R718M		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		718					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGGAGCAGGGCGGCCTCG	0.662000													16	159					1.00905e-13	1.72659e-13	0.204396	1	0
GPATCH8	23131	broad.mit.edu	37	17	42476845	42476845	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:42476845C>A	ENST00000434000.1	-	9	2648	c.2366G>T	c.(2365-2367)cGg>cTg	p.R789L	GPATCH8_ENST00000591680.1_Missense_Mutation_p.R867L			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	867						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTAAGAACGCCGGGAGGAACG	0.537000													8	97					0.000157383	0.000189352	0.278610	1	0
TENM2	57451	broad.mit.edu	37	5	167643912	167643912	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:167643912C>A	ENST00000519204.1	+	21	3973	c.3855C>A	c.(3853-3855)agC>agA	p.S1285R	TENM2_ENST00000403607.2_Missense_Mutation_p.S1230R|TENM2_ENST00000545108.1_Missense_Mutation_p.S1405R|TENM2_ENST00000520394.1_Missense_Mutation_p.S1167R|TENM2_ENST00000518659.1_Missense_Mutation_p.S1406R					teneurin transmembrane protein 2																		GTGATTCCAGCATGGATGTAG	0.527000													14	80					3.27435e-08	4.94363e-08	0.119110	1	0
DSP	1832	broad.mit.edu	37	6	7584233	7584233	+	Silent	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:7584233T>A	ENST00000379802.3	+	24	7079	c.6738T>A	c.(6736-6738)gtT>gtA	p.V2246V	DSP_ENST00000418664.2_Silent_p.V1647V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2246	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGACGAGGTTGGTGAGAGAA	0.443000													14	33					0	0	0.105934	0	0
PLK1	5347	broad.mit.edu	37	16	23691457	23691457	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr16:23691457G>T	ENST00000300093.4	+	2	572	c.461G>T	c.(460-462)cGa>cTa	p.R154L	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	154	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCTGAGGCCCGATACTACCTA	0.557000													7	43					8.12818e-05	0.000100407	0.248553	1	0
PARD3B	117583	broad.mit.edu	37	2	206165275	206165275	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:206165275G>T	ENST00000406610.2	+	17	2414	c.2207G>T	c.(2206-2208)gGt>gTt	p.G736V	PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000358768.2_Missense_Mutation_p.G674V|PARD3B_ENST00000349953.3_Missense_Mutation_p.G736V|PARD3B_ENST00000462231.1_Missense_Mutation_p.G736V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	736					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAAGATTTTGGTCCAACTCTG	0.488000													24	97					6.21321e-17	1.1126e-16	0.264190	1	0
SSMEM1	136263	broad.mit.edu	37	7	129847876	129847876	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:129847876G>T	ENST00000297819.3	+	1	177	c.126G>T	c.(124-126)ctG>ctT	p.L42L		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1																		GGAGCTTCCTGCTTTGGTATT	0.398000													21	103					1.36565e-18	2.48397e-18	0.264190	1	0
OR2T12	127064	broad.mit.edu	37	1	248458056	248458056	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:248458056G>C	ENST00000317996.1	-	1	824	c.825C>G	c.(823-825)ttC>ttG	p.F275L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACATAGTATAGAAGGCTGACA	0.483000													23	152					0	0	0.279207	0	0
NALCN	259232	broad.mit.edu	37	13	101735531	101735531	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr13:101735531G>T	ENST00000251127.6	-	32	3683	c.3602C>A	c.(3601-3603)gCt>gAt	p.A1201D		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1201						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATACATTTTAGCTCTAAAACC	0.388000													5	32					0.000602214	0.000702583	0.184627	1	0
UNC45B	146862	broad.mit.edu	37	17	33504149	33504149	+	Splice_Site	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:33504149G>T	ENST00000268876.5	+	16	2242	c.2145_splice	c.e16+1	p.R715_splice	UNC45B_ENST00000433649.1_Splice_Site_p.R713_splice|UNC45B_ENST00000394570.2_Splice_Site_p.R713_splice|UNC45B_ENST00000591048.1_Splice_Site_p.R634_splice|UNC45B_ENST00000378449.1_Splice_Site_p.R634_splice	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	715					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTGGGGAGCGGGTAGGTGCTT	0.582000													5	38					0.014758	0.0160806	0.184627	1	0
MYO18B	84700	broad.mit.edu	37	22	26193997	26193997	+	Silent	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr22:26193997C>T	ENST00000335473.7	+	12	2704	c.2454C>T	c.(2452-2454)agC>agT	p.S818S	MYO18B_ENST00000536101.1_Silent_p.S818S|MYO18B_ENST00000407587.2_Silent_p.S818S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	818	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTCAGAGAGCGAGCAGCGGG	0.647000													10	46					0	0	0.069234	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140787938	140787938	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:140787938A>T	ENST00000520790.1	+	1	169	c.169A>T	c.(169-171)Agt>Tgt	p.S57C	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAGGGCTCAGTGTCCTGGA	0.597000													8	54					0	0	0.058154	0	0
KCNT2	343450	broad.mit.edu	37	1	196309558	196309558	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:196309558G>T	ENST00000367433.5	-	16	1797	c.1696C>A	c.(1696-1698)Caa>Aaa	p.Q566K	KCNT2_ENST00000294725.8_Missense_Mutation_p.Q566K|KCNT2_ENST00000451324.2_Missense_Mutation_p.Q177K|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q516K|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	566						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGCTGGTCTTGGTTTTTAAAT	0.353000													11	72					1.08611e-07	1.57793e-07	0.080935	1	0
PDE3A	5139	broad.mit.edu	37	12	20833070	20833070	+	Silent	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:20833070A>T	ENST00000359062.3	+	16	3331	c.3291A>T	c.(3289-3291)gcA>gcT	p.A1097A	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1097					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AACGGTTGGCAGGCATAGAAA	0.448000													6	86					0	0	0.217242	0	0
SCPEP1	59342	broad.mit.edu	37	17	55072972	55072972	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:55072972G>T	ENST00000262288.3	+	8	817	c.762G>T	c.(760-762)ggG>ggT	p.G254G		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	254					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AGCTGTGGGGGAAAGCAGAAA	0.507000													12	51					1.08611e-07	1.57793e-07	0.080935	1	0
TTC37	9652	broad.mit.edu	37	5	94834075	94834075	+	Splice_Site	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:94834075T>A	ENST00000358746.2	-	33	3860	c.3563_splice	c.e33+1	p.S1188_splice		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1188							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AGAATTTACCTGTGAACAGCT	0.353000													16	104					0	0	0.160694	0	0
CSMD1	64478	broad.mit.edu	37	8	2967820	2967820	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr8:2967820G>T	ENST00000520002.1	-	44	7026	c.6471C>A	c.(6469-6471)acC>acA	p.T2157T	CSMD1_ENST00000602723.1_Silent_p.T2157T|CSMD1_ENST00000400186.3_Silent_p.T2157T|CSMD1_ENST00000602557.1_Silent_p.T2157T|CSMD1_ENST00000542608.1_Silent_p.T2156T|CSMD1_ENST00000537824.1_Silent_p.T2156T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2157	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGAGTAGATGGTGCCGTTCT	0.488000													5	9					3.59834e-05	4.59235e-05	0.217242	1	0
VPS13A	23230	broad.mit.edu	37	9	79984229	79984229	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:79984229G>T	ENST00000360280.3	+	63	8828	c.8568G>T	c.(8566-8568)atG>atT	p.M2856I	VPS13A_ENST00000376634.4_Missense_Mutation_p.M2856I|VPS13A_ENST00000376636.3_Missense_Mutation_p.M2817I|VPS13A_ENST00000357409.5_Missense_Mutation_p.M2856I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2856					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTAAGCAGATGTATGTACTCA	0.299000													22	82					2.21704e-12	3.71112e-12	0.264190	1	0
EMR1	2015	broad.mit.edu	37	19	6928172	6928172	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:6928172G>T	ENST00000312053.4	+	17	2276	c.2239G>T	c.(2239-2241)Gag>Tag	p.E747*	EMR1_ENST00000381404.4_Nonsense_Mutation_p.E695*|EMR1_ENST00000381407.5_Nonsense_Mutation_p.E606*|EMR1_ENST00000450315.3_Nonsense_Mutation_p.E570*|EMR1_ENST00000250572.8_Nonsense_Mutation_p.E682*	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	747					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GCTGAATACAGAGACAGGGTT	0.498000													28	124					3.73988e-18	6.74932e-18	0.116897	1	0
TRPV5	56302	broad.mit.edu	37	7	142622765	142622765	+	Silent	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:142622765C>A	ENST00000265310.1	-	8	1329	c.981G>T	c.(979-981)ccG>ccT	p.P327P	TRPV5_ENST00000442623.1_Silent_p.P327P	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	327					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGCAGAAGTACGGCCGGCCAT	0.552000													9	38					0.0581538	0.0616217	0.058154	1	0
RGS7	6000	broad.mit.edu	37	1	240969527	240969527	+	Silent	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:240969527G>C	ENST00000366565.1	-	15	1563	c.1182C>G	c.(1180-1182)ccC>ccG	p.P394P	RGS7_ENST00000407727.1_Silent_p.P394P|RGS7_ENST00000366563.1_Silent_p.P394P|RGS7_ENST00000366562.4_Silent_p.P394P|RGS7_ENST00000446183.2_Silent_p.P310P|RGS7_ENST00000331110.7_Silent_p.P368P|RGS7_ENST00000348120.2_Silent_p.P341P|RGS7_ENST00000401882.1_Silent_p.P341P|RGS7_ENST00000366564.1_Silent_p.P394P	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	394	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.P394P(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TAATAGCACTGGGGGCTCCGG	0.478000													15	104					0	0	0.132662	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			24	23					0	0	0.108266	0	0
SEC14L1	6397	broad.mit.edu	37	17	75192327	75192327	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:75192327G>T	ENST00000413679.2	+	8	1056	c.753G>T	c.(751-753)ttG>ttT	p.L251F	SEC14L1_ENST00000436233.4_Missense_Mutation_p.L251F|SEC14L1_ENST00000443798.4_Missense_Mutation_p.L251F|SEC14L1_ENST00000591437.1_Missense_Mutation_p.L217F|SEC14L1_ENST00000430767.4_Missense_Mutation_p.L251F|SEC14L1_ENST00000585618.1_Missense_Mutation_p.L251F|SEC14L1_ENST00000392476.2_Missense_Mutation_p.L251F|SEC14L1_ENST00000431431.2_Missense_Mutation_p.L217F	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	251					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGGGCGATTTGACTCCGCTGC	0.512000													4	55					0.0215528	0.0230495	0.217242	1	0
PRMT8	56341	broad.mit.edu	37	12	3662861	3662861	+	Silent	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:3662861G>A	ENST00000382622.3	+	4	852	c.462G>A	c.(460-462)aaG>aaA	p.K154K	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Silent_p.K145K	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	154					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			AGATCATTAAGGCCAACCACT	0.478000													16	81					0	0	0.146539	0	0
CDON	50937	broad.mit.edu	37	11	125887047	125887047	+	Silent	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:125887047A>G	ENST00000392693.3	-	6	991	c.864T>C	c.(862-864)taT>taC	p.Y288Y	CDON_ENST00000263577.7_Silent_p.Y288Y	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	288	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCATGCAGGAATAGTTTCCGG	0.438000													4	33					0	0	0.184627	0	0
ZNF451	26036	broad.mit.edu	37	6	57013339	57013339	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:57013339G>T	ENST00000370706.4	+	10	2700	c.2456G>T	c.(2455-2457)aGt>aTt	p.S819I	RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.S819I|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.S819I|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAGAAACCCAGTGTGGCTCAT	0.398000													8	46					0.000274275	0.000324911	0.047766	1	0
RIMS2	9699	broad.mit.edu	37	8	105026764	105026764	+	Silent	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr8:105026764A>T	ENST00000507740.1	+	17	2933	c.2697A>T	c.(2695-2697)acA>acT	p.T899T	RIMS2_ENST00000436393.2_Silent_p.T825T|RIMS2_ENST00000262231.10_Silent_p.T924T|RIMS2_ENST00000406091.3_Silent_p.T1085T	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1147	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)			CTGTCCAGACAAGCCCATCAA	0.413000										HNSCC(12;0.0054)			6	47					0	0	0.248553	0	0
PCK1	5105	broad.mit.edu	37	20	56139639	56139639	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr20:56139639G>A	ENST00000319441.4	+	8	1452	c.1288G>A	c.(1288-1290)Ggc>Agc	p.G430S	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Missense_Mutation_p.G113S	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	430					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCCCATTGAAGGCATTATCTT	0.567000													25	96					0	0	0.264190	0	0
TTN	7273	broad.mit.edu	37	2	179595833	179595833	+	Silent	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:179595833T>A	ENST00000589042.1	-	60	17783	c.17559A>T	c.(17557-17559)acA>acT	p.T5853T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.T5536T|TTN_ENST00000342992.6_Silent_p.T4609T|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5536	Ig-like 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCATTTGGCTGTAATCTCCT	0.418000													8	108					0	0	0.047766	0	0
RGPD4	285190	broad.mit.edu	37	2	108475895	108475895	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:108475895C>T	ENST00000408999.3	+	11	1596	c.1519C>T	c.(1519-1521)Cac>Tac	p.H507Y	RGPD4_ENST00000354986.4_Missense_Mutation_p.H507Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	507					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATGTAATTCTCACCACAGCTC	0.368000													14	164					0	0	0.132662	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627630	43627630	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:43627630G>T	ENST00000332857.6	-	4	1085	c.1057C>A	c.(1057-1059)Caa>Aaa	p.Q353K		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GGGGTCATTTGATTTGTAAAT	0.433000													81	220					8.6838e-40	1.60477e-39	0.139131	1	0
GRIN3A	116443	broad.mit.edu	37	9	104433100	104433100	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:104433100C>A	ENST00000361820.3	-	3	2194	c.1594G>T	c.(1594-1596)Gat>Tat	p.D532Y		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	532					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCTTCATCATCTACCTCCCTT	0.488000													26	63					1.55469e-16	2.76257e-16	0.279207	1	0
NPSR1	387129	broad.mit.edu	37	7	34851388	34851388	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:34851388C>A	ENST00000360581.1	+	4	519	c.391C>A	c.(391-393)Ctg>Atg	p.L131M	NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000381539.3_Missense_Mutation_p.L131M|NPSR1_ENST00000359791.1_Missense_Mutation_p.L131M|NPSR1_ENST00000531252.1_Missense_Mutation_p.L120M	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	131						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TTAGGTTGTGCTGCTCTACGC	0.468000													12	81					7.03913e-09	1.08403e-08	0.093190	1	0
ZNF804B	219578	broad.mit.edu	37	7	88964765	88964765	+	Silent	SNP	G	G	A	rs148990105		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:88964765G>A	ENST00000333190.4	+	4	3078	c.2469G>A	c.(2467-2469)acG>acA	p.T823T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	823						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAAATCTACGAGAATCATCT	0.363000										HNSCC(36;0.09)			4	57					0	0	0.184627	0	0
IFNA6	3443	broad.mit.edu	37	9	21350855	21350855	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:21350855A>G	ENST00000380210.1	-	1	522	c.32T>C	c.(31-33)cTg>cCg	p.L11P		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	11					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GAGCACCACCAGGGCCATCAG	0.522000													12	84					0	0	0.105934	0	0
GUCY2D	3000	broad.mit.edu	37	17	7915566	7915566	+	Silent	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:7915566C>T	ENST00000254854.4	+	9	2004	c.1854C>T	c.(1852-1854)gtC>gtT	p.V618V		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	618	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TGGCTGTGGTCTCAGAGCACT	0.612000													12	37					0	0	0.105934	0	0
SLC5A8	160728	broad.mit.edu	37	12	101573839	101573839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:101573839C>A	ENST00000536262.2	-	10	1759	c.1201G>T	c.(1201-1203)Gcg>Tcg	p.A401S		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	401					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GACGCCAGCGCAGCCATTCCA	0.428000													10	118					0.000151284	0.000184903	0.105934	1	0
CASP3	836	broad.mit.edu	37	4	185550429	185550429	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr4:185550429G>C	ENST00000308394.4	-	8	1093	c.831C>G	c.(829-831)caC>caG	p.H277Q	CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR|CASP3_ENST00000523916.1_Missense_Mutation_p.H277Q	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	277					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	CATTTCTTTAGTGATAAAAAT	0.348000													8	134					0	0	0.047766	0	0
CLVS2	134829	broad.mit.edu	37	6	123377007	123377007	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:123377007C>G	ENST00000275162.4	+	5	2067	c.732C>G	c.(730-732)atC>atG	p.I244M	CLVS2_ENST00000368438.1_Missense_Mutation_p.I98M	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	244	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ATCCTGAGATCCTGCCCTCTG	0.453000													5	79					0	0	0.217242	0	0
MPP2	4355	broad.mit.edu	37	17	41955346	41955346	+	Silent	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:41955346C>T	ENST00000269095.4	-	13	1792	c.1488G>A	c.(1486-1488)gcG>gcA	p.A496A	MPP2_ENST00000536246.1_Silent_p.A485A|MPP2_ENST00000461854.1_Silent_p.A520A|MPP2_ENST00000518766.1_Silent_p.A541A|MPP2_ENST00000377184.3_Silent_p.A513A|MPP2_ENST00000523501.1_Silent_p.A485A|MPP2_ENST00000520305.1_Silent_p.A357A	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	520	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GTCTCAGGTCCGCCTCCTGCC	0.632000													5	49					0	0	0.184627	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947368	57947368	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:57947368C>A	ENST00000335397.3	+	3	768	c.452C>A	c.(451-453)gCt>gAt	p.A151D		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GCTTACGTTGCTGGTCTCATC	0.547000													8	55					5.4927e-09	8.51553e-09	0.047766	1	0
NQO1	1728	broad.mit.edu	37	16	69744882	69744882	+	Silent	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr16:69744882T>C	ENST00000320623.5	-	6	1333	c.822A>G	c.(820-822)aaA>aaG	p.K274K	NQO1_ENST00000439109.2_Silent_p.K202K|NQO1_ENST00000564043.1_Silent_p.K253K|NQO1_ENST00000379046.2_Silent_p.K236K|NQO1_ENST00000379047.3_Silent_p.K240K|NQO1_ENST00000561500.1_Intron	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	274					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	AGGAATCTCATTTTCTAGCTT	0.408000													25	67					0	0	0.134883	0	0
ROS1	6098	broad.mit.edu	37	6	117665282	117665282	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:117665282C>A	ENST00000368508.3	-	27	4663	c.4465G>T	c.(4465-4467)Gtt>Ttt	p.V1489F	ROS1_ENST00000368507.3_Missense_Mutation_p.V1483F|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1489	Fibronectin type-III 6.				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)		GCATAATAAACCAGGTATGTT	0.398000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								4	56					1.024e-07	1.51631e-07	0.184627	1	0
TUBB4A	10382	broad.mit.edu	37	19	6495936	6495936	+	Silent	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:6495936G>A	ENST00000264071.2	-	4	945	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L	TUBB4A_ENST00000540257.1_Silent_p.L192L			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	192					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										TTCTCCACCAGCTGGTGCACA	0.592000													33	128					0	0	0.193644	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502701	140502701	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:140502701C>A	ENST00000194152.1	+	1	1121	c.1121C>A	c.(1120-1122)tCc>tAc	p.S374Y		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		374	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATAGAGATTCCGGAGAAAAT	0.408000													17	121					1.5739e-10	2.54245e-10	0.146539	1	0
IRX4	50805	broad.mit.edu	37	5	1880845	1880845	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:1880845T>C	ENST00000505790.1	-	4	857	c.401A>G	c.(400-402)tAt>tGt	p.Y134C	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.Y134C|IRX4_ENST00000231357.2_Missense_Mutation_p.Y134C	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	134					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TCACCTGTCATAGGGGTACTG	0.627000													4	61					0	0	0.217242	0	0
PRKACA	5566	broad.mit.edu	37	19	14208272	14208272	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:14208272C>A	ENST00000308677.4	-	8	862	c.666G>T	c.(664-666)tgG>tgT	p.W222C	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Missense_Mutation_p.W214C	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	222	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CCAGGGCCCACCAGTCCACGG	0.622000													12	36					3.07112e-06	4.00807e-06	0.080935	1	0
AK7	122481	broad.mit.edu	37	14	96916184	96916184	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr14:96916184A>T	ENST00000267584.4	+	9	960	c.916A>T	c.(916-918)Aga>Tga	p.R306*		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	306					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GAAAATACCCAGAGAAAATGC	0.313000													4	33					0	0	0.184627	0	0
SERPINB10	5273	broad.mit.edu	37	18	61602436	61602436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr18:61602436C>A	ENST00000238508.3	+	8	1213	c.1154C>A	c.(1153-1155)aCc>aAc	p.T385N	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CACAATAAAACCAACACCATT	0.398000													6	118					0.0215528	0.0230495	0.217242	1	0
TRBV7-8	28590	broad.mit.edu	37	7	142099492	142099492	+	RNA	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:142099492C>A	ENST00000390359.3	-	0	348																											GCGGAGTCCTCCTGCTGTGTG	0.552000													4	66					0.0215528	0.0230495	0.217242	1	0
ZNF43	7594	broad.mit.edu	37	19	21991183	21991183	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:21991183G>T	ENST00000594012.1	-	7	2152	c.1638C>A	c.(1636-1638)atC>atA	p.I546I	ZNF43_ENST00000595461.1_Silent_p.I546I|ZNF43_ENST00000598381.1_Silent_p.I546I|ZNF43_ENST00000354959.4_Silent_p.I552I	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GTTTGGTAAGGATTGAGAAAT	0.378000													11	43					2.80697e-09	4.41096e-09	0.080935	1	0
FSHR	2492	broad.mit.edu	37	2	49190356	49190356	+	Missense_Mutation	SNP	A	A	T	rs145815060		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:49190356A>T	ENST00000406846.2	-	10	1723	c.1604T>A	c.(1603-1605)cTt>cAt	p.L535H	FSHR_ENST00000304421.4_Missense_Mutation_p.L509H|FSHR_ENST00000346173.3_Missense_Mutation_p.L473H|FSHR_ENST00000541117.1_Missense_Mutation_p.L271H	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	535					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ATTGAGCACAAGGAGGGACAT	0.517000									Gonadal Dysgenesis, 46 XX				3	29					0	0	0.115264	0	0
CDC123	8872	broad.mit.edu	37	10	12292308	12292308	+	Splice_Site	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr10:12292308A>G	ENST00000281141.4	+	13	1264		c.e13-1		CDC123_ENST00000378900.2_Splice_Site	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123						cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						TTTCTTTGACAGAAGAGAAAT	0.502000													10	39					0	0	0.093190	0	0
SATB2	23314	broad.mit.edu	37	2	200213728	200213728	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:200213728T>A	ENST00000443023.1	-	6	2157	c.692A>T	c.(691-693)cAg>cTg	p.Q231L	SATB2_ENST00000457245.1_Missense_Mutation_p.Q290L|SATB2_ENST00000260926.5_Missense_Mutation_p.Q290L|SATB2_ENST00000428695.1_Missense_Mutation_p.Q172L|SATB2_ENST00000417098.1_Missense_Mutation_p.Q290L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	290						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATGATGGGCTGTAATGCGGG	0.493000													8	78					0	0	0.278610	0	0
MYOM1	8736	broad.mit.edu	37	18	3134707	3134707	+	Silent	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr18:3134707C>A	ENST00000400569.3	-	16	2658	c.2325G>T	c.(2323-2325)gcG>gcT	p.A775A	MYOM1_ENST00000356443.4_Silent_p.A775A|MYOM1_ENST00000261606.7_Silent_p.A775A			P52179	MYOM1_HUMAN	myomesin 1	775	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGCAACGCTCGCCTCTATGT	0.567000													6	45					5.9392e-07	8.29379e-07	0.217242	1	0
FBN2	2201	broad.mit.edu	37	5	127664387	127664387	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:127664387C>T	ENST00000508989.1	-	33	4590	c.4373G>A	c.(4372-4374)gGt>gAt	p.G1458D	FBN2_ENST00000262464.4_Splice_Site|FBN2_ENST00000508053.1_Splice_Site|FBN2_ENST00000507835.1_Missense_Mutation_p.G341D			P35556	FBN2_HUMAN	fibrillin 2	2380	EGF-like 24; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGGTGACCCACCTTGGCAGGA	0.507000													3	26					0	0	0.115264	0	0
CSMD3	114788	broad.mit.edu	37	8	113301663	113301663	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr8:113301663G>T	ENST00000297405.5	-	57	9323	c.9079C>A	c.(9079-9081)Ctt>Att	p.L3027I	CSMD3_ENST00000352409.3_Missense_Mutation_p.L2957I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2858I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2987I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3027	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGCCTAAAAGGGAACGCTTT	0.468000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	76					1.85244e-09	2.95389e-09	0.279207	1	0
BRINP1	1620	broad.mit.edu	37	9	122011272	122011272	+	Nonsense_Mutation	SNP	G	G	T	rs115548564	by1000genomes	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr9:122011272G>T	ENST00000265922.3	-	3	836	c.375C>A	c.(373-375)taC>taA	p.Y125*	DBC1_ENST00000373964.2_Nonsense_Mutation_p.Y125*	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		125	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGTGGGTGCCGTACTTTTTGA	0.562000													15	37					0.00316338	0.00357205	0.132662	1	0
PRKAG3	53632	broad.mit.edu	37	2	219689032	219689032	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:219689032C>A	ENST00000439262.2	-	12	1286	c.1191G>T	c.(1189-1191)agG>agT	p.R397S	PRKAG3_ENST00000545803.1_Missense_Mutation_p.R238S|PRKAG3_ENST00000529249.1_Missense_Mutation_p.R422S	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	422	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGTCCTCTGCCTCAGGGCTT	0.602000													5	26					0.014758	0.0160502	0.184627	1	0
SEC14L1	6397	broad.mit.edu	37	17	75192328	75192328	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr17:75192328A>T	ENST00000413679.2	+	8	1057	c.754A>T	c.(754-756)Act>Tct	p.T252S	SEC14L1_ENST00000443798.4_Missense_Mutation_p.T252S|SEC14L1_ENST00000591437.1_Missense_Mutation_p.T218S|SEC14L1_ENST00000431431.2_Missense_Mutation_p.T218S|SEC14L1_ENST00000585618.1_Missense_Mutation_p.T252S|SEC14L1_ENST00000392476.2_Missense_Mutation_p.T252S|SEC14L1_ENST00000430767.4_Missense_Mutation_p.T252S|SEC14L1_ENST00000436233.4_Missense_Mutation_p.T252S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	252					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GGGCGATTTGACTCCGCTGCA	0.512000													4	56					0	0	0.217242	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	36					0	0	0.150653	0	0
NOTCH1	4851	broad.mit.edu	37	9	139413985	139413985	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr9:139413985C>T	ENST00000277541.6	-	5	850	c.775G>A	c.(775-777)Gac>Aac	p.D259N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	259	EGF-like 7; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGACAATCGTCGATATTTTCC	0.627000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			12	164					0	0	0.080935	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172549360	172549360	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:172549360A>T	ENST00000534253.2	+	3	350	c.182A>T	c.(181-183)gAa>gTa	p.E61V	DYNC1I2_ENST00000410079.3_Missense_Mutation_p.E61V|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.E61V|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.E61V|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.E61V|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.E61V|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.E61V|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.E61V|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.E61V|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.E61V|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.E61V			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	61					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			AGAGAAGCTGAAGCATTGCTT	0.383000													5	11					0	0	0.184627	0	0
CCDC70	83446	broad.mit.edu	37	13	52439850	52439850	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr13:52439850G>T	ENST00000242819.4	+	2	632	c.336G>T	c.(334-336)aaG>aaT	p.K112N		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	112						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AAATGGAAAAGTCTTTCAGGG	0.468000													15	107					1.5739e-10	2.54411e-10	0.146539	1	0
AMBP	259	broad.mit.edu	37	9	116836424	116836424	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr9:116836424T>C	ENST00000265132.3	-	4	608	c.346A>G	c.(346-348)Ata>Gta	p.I116V		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	116					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TCCATGGTTATGTTCCATTCT	0.493000													9	30					0	0	0.069234	0	0
SDC2	6383	broad.mit.edu	37	8	97605786	97605786	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr8:97605786G>T	ENST00000302190.4	+	2	1060	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	SDC2_ENST00000519914.1_Missense_Mutation_p.D18Y|SDC2_ENST00000518385.1_Intron|SDC2_ENST00000522911.1_Missense_Mutation_p.D18Y	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	47						integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GTATCCTATTGATGACGATGA	0.478000													12	65					1.5842e-08	2.41207e-08	0.105934	1	0
KRTAP5-AS1	338651	broad.mit.edu	37	11	1619623	1619623	+	RNA	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr11:1619623C>G	ENST00000424148.1	+	0	1474					NR_021489.1																						ACTGTTTACACTATTTTTCCA	0.448000													5	38					0	0	0.184627	0	0
OR2T11	127077	broad.mit.edu	37	1	248790268	248790268	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:248790268G>T	ENST00000330803.2	-	1	223	c.162C>A	c.(160-162)acC>acA	p.T54T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGTACATGGGGGTGTGGAGGC	0.478000													18	27					2.5808e-16	4.54528e-16	0.175082	1	0
OR8S1	341568	broad.mit.edu	37	12	48919740	48919740	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr12:48919740G>T	ENST00000310194.1	+	1	326	c.326G>T	c.(325-327)gGg>gTg	p.G109V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GTCACTGCAGGGACTGAAGCC	0.522000													12	72					2.27111e-07	3.24838e-07	0.093190	1	0
ZDHHC15	158866	broad.mit.edu	37	X	74644525	74644525	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chrX:74644525T>G	ENST00000541184.1	-	7	1148	c.671A>C	c.(670-672)tAc>tCc	p.Y224S	ZDHHC15_ENST00000373367.3_Missense_Mutation_p.Y233S|ZDHHC15_ENST00000373361.3_3'UTR	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	233						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CCAACAATGGTAACCAAAGAG	0.393000													3	21					0	0	0.115264	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502251	140502251	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:140502251C>G	ENST00000194152.1	+	1	671	c.671C>G	c.(670-672)aCg>aGg	p.T224R		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		224	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTCTGGCACGGTCATGGTT	0.547000													10	89					0	0	0.069234	0	0
IQSEC2	23096	broad.mit.edu	37	X	53280041	53280041	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chrX:53280041G>A	ENST00000396435.3	-	5	1917	c.1717C>T	c.(1717-1719)Cgc>Tgc	p.R573C	IQSEC2_ENST00000375368.5_Missense_Mutation_p.R563C|IQSEC2_ENST00000375365.2_Missense_Mutation_p.R368C	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	563	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GGACCCCTGCGAGTGCCTTCC	0.677000													8	18					0	0	0.278610	0	0
CCDC89	220388	broad.mit.edu	37	11	85396655	85396655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr11:85396655C>A	ENST00000316398.3	-	1	665	c.519G>T	c.(517-519)gaG>gaT	p.E173D		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	173						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATACTTTCGCCTCCTCATCCT	0.552000													21	105					8.10497e-08	1.203e-07	0.219247	1	0
ZNF655	79027	broad.mit.edu	37	7	99170705	99170705	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr7:99170705A>G	ENST00000424881.1	+	4	1299	c.1079A>G	c.(1078-1080)cAc>cGc	p.H360R	ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.H360R|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000252713.4_Missense_Mutation_p.H325R|ZNF655_ENST00000394163.2_Missense_Mutation_p.H325R	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	325					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CAGAAAATTCACAAAGAGATG	0.413000													21	101					0	0	0.249174	0	0
CMYA5	202333	broad.mit.edu	37	5	79025009	79025009	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:79025009G>T	ENST00000446378.2	+	2	452	c.421G>T	c.(421-423)Ggt>Tgt	p.G141C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	141						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTCAAAGCATGGTTCACCATC	0.403000													9	70					0.0581538	0.0615439	0.058154	1	0
RYR1	6261	broad.mit.edu	37	19	39001314	39001314	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr19:39001314G>T	ENST00000355481.4	+	60	9146	c.9015G>T	c.(9013-9015)ttG>ttT	p.L3005F	RYR1_ENST00000360985.3_Missense_Mutation_p.L3005F|RYR1_ENST00000359596.3_Missense_Mutation_p.L3005F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3005					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCTCCCTTTGATCAACCAGT	0.562000													54	186					2.83923e-41	5.27605e-41	0.139131	1	0
PDK3	5165	broad.mit.edu	37	X	24523382	24523382	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chrX:24523382G>C	ENST00000441463.2	+	5	562	c.562G>C	c.(562-564)Gat>Cat	p.D188H	PDK3_ENST00000379162.4_Missense_Mutation_p.D188H	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	188	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGGAAGTATCGATCCCACCTG	0.453000													8	72					0	0	0.058154	0	0
KIF2B	84643	broad.mit.edu	37	17	51900628	51900628	+	Silent	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr17:51900628G>A	ENST00000268919.4	+	1	390	c.234G>A	c.(232-234)ctG>ctA	p.L78L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	78					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCATACTCCTGCTGAATCCAG	0.567000													13	134					0	0	0.119110	0	0
OR10V1	390201	broad.mit.edu	37	11	59480650	59480650	+	Silent	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr11:59480650C>A	ENST00000307552.2	-	1	687	c.669G>T	c.(667-669)gtG>gtT	p.V223V		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AAATGGCTACCACGATGAAGA	0.517000													9	75					0.0692343	0.0729433	0.069234	1	0
OR4N4	283694	broad.mit.edu	37	15	22382661	22382661	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr15:22382661G>T	ENST00000328795.4	+	1	280	c.189G>T	c.(187-189)ctG>ctT	p.L63L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATTTATTTCTGGGCAACTTGG	0.458000													30	270					1.41504e-22	2.58875e-22	0.301197	1	0
ADK	132	broad.mit.edu	37	10	76158301	76158301	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr10:76158301G>A	ENST00000372734.3	+	6	655	c.468G>A	c.(466-468)tgG>tgA	p.W156*	ADK_ENST00000541550.1_Nonsense_Mutation_p.W138*|ADK_ENST00000286621.2_Nonsense_Mutation_p.W173*|ADK_ENST00000539909.1_Nonsense_Mutation_p.W173*	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	173					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	AGAAAAACTGGATGTTGGTAG	0.328000													3	30					0	0	0.150653	0	0
SI	6476	broad.mit.edu	37	3	164735759	164735759	+	Splice_Site	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr3:164735759C>T	ENST00000264382.3	-	29	3581	c.3520_splice	c.e29+1	p.M1173_splice		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1173	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTGTTTTACCCATTGCATTGC	0.343000										HNSCC(35;0.089)			4	52					0	0	0.150653	0	0
ZNF208	7757	broad.mit.edu	37	19	22155240	22155240	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr19:22155240A>G	ENST00000397126.4	-	4	2744	c.2596T>C	c.(2596-2598)Tgt>Cgt	p.C866R	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)				GCTTTGCCACATTCTTCACAT	0.363000													7	57					0	0	0.248553	0	0
NRXN1	9378	broad.mit.edu	37	2	50850754	50850754	+	Splice_Site	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:50850754C>A	ENST00000404971.1	-	7	2271		c.e7-1		NRXN1_ENST00000401669.2_Splice_Site|NRXN1_ENST00000402717.3_Splice_Site|NRXN1_ENST00000406316.2_Splice_Site|NRXN1_ENST00000406859.3_Splice_Site|NRXN1_ENST00000405472.3_Splice_Site|NRXN1_ENST00000331040.5_Splice_Site	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTCTTTTCCTAGAGGAAAA	0.368000													4	25					0.00909568	0.0101254	0.150653	1	0
ACTN2	88	broad.mit.edu	37	1	236898975	236898975	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:236898975G>T	ENST00000366578.4	+	8	904	c.738G>T	c.(736-738)atG>atT	p.M246I	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	246	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGCCATCATGACGTACGTCT	0.522000													5	64					3.59834e-05	4.59031e-05	0.217242	1	0
C1orf64	149563	broad.mit.edu	37	1	16332490	16332490	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:16332490G>T	ENST00000329454.2	+	2	227	c.159G>T	c.(157-159)aaG>aaT	p.K53N		NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	53										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACGGGAAGCAGCTCTCCC	0.572000													23	199					1.10513e-12	1.87634e-12	0.249174	1	0
ALPPL2	251	broad.mit.edu	37	2	233272329	233272329	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:233272329C>A	ENST00000295453.3	+	4	378	c.326C>A	c.(325-327)cCa>cAa	p.P109Q		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	109					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	AAGCATGTGCCAGACAGTGGA	0.567000													3	29					2.56e-06	3.43273e-06	0.150653	1	0
SCAMP3	10067	broad.mit.edu	37	1	155227303	155227303	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:155227303C>G	ENST00000355379.3	-	5	863	c.585G>C	c.(583-585)atG>atC	p.M195I	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Missense_Mutation_p.M221I	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	221					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAGCCTTATACATGGGGCGGT	0.547000													3	27					0	0	0.115264	0	0
COL17A1	1308	broad.mit.edu	37	10	105819901	105819901	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr10:105819901C>A	ENST00000353479.5	-	14	1407	c.1117G>T	c.(1117-1119)Gcc>Tcc	p.A373S	COL17A1_ENST00000369733.3_Missense_Mutation_p.A373S|COL17A1_ENST00000393211.3_Missense_Mutation_p.A373S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	373	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCAGGGGAGGCTGTAAAGACC	0.517000													11	62					0.010729	0.0118876	0.080935	1	0
SVOPL	136306	broad.mit.edu	37	7	138312982	138312982	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr7:138312982G>C	ENST00000421622.1	-	7	838	c.630C>G	c.(628-630)agC>agG	p.S210R	SVOPL_ENST00000419765.3_Missense_Mutation_p.S330R|SVOPL_ENST00000436657.1_Missense_Mutation_p.S178R|SVOPL_ENST00000288513.5_Missense_Mutation_p.S178R			Q8N434	SVOPL_HUMAN	SVOP-like	330						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AGGGGCTCTGGCTCTCCCCTG	0.572000													6	36					0	0	0.217242	0	0
FGD5	152273	broad.mit.edu	37	3	14861995	14861995	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr3:14861995G>A	ENST00000285046.5	+	1	1527	c.1417G>A	c.(1417-1419)Gcg>Acg	p.A473T	FGD5_ENST00000543601.1_Missense_Mutation_p.A232T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	473					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTGGTTCCCGCGGACAGGAA	0.642000													4	39					0	0	0.150653	0	0
SLC17A1	6568	broad.mit.edu	37	6	25811900	25811900	+	Silent	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr6:25811900G>A	ENST00000244527.4	-	9	1111	c.996C>T	c.(994-996)agC>agT	p.S332S	SLC17A1_ENST00000476801.1_Silent_p.S332S|SLC17A1_ENST00000427328.1_Silent_p.S278S|SLC17A1_ENST00000468082.1_Silent_p.S278S	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	332					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.S332R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CAGCAATTACGCTGAGAATAT	0.463000													7	63					0	0	0.047766	0	0
TBC1D23	55773	broad.mit.edu	37	3	100016840	100016840	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr3:100016840G>T	ENST00000394144.4	+	9	957	c.950G>T	c.(949-951)tGt>tTt	p.C317F	TBC1D23_ENST00000475134.1_Missense_Mutation_p.C180F|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.C317F	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	317						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						CAGGCTCTTTGTCTGGCCATC	0.403000													5	24					0.000602214	0.000703577	0.184627	1	0
HIST2H2BB	338391	broad.mit.edu	37	1	149375105	149375105	+	RNA	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:149375105C>T	ENST00000415338.1	-	0	1061																											GCTTTACTATCGAAATGGCAA	0.468000													12	131					0	0	0.189662	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338767	151338767	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:151338767C>A	ENST00000435071.1	-	7	1097	c.635G>T	c.(634-636)cGc>cTc	p.R212L	SELENBP1_ENST00000447402.3_Missense_Mutation_p.R214L|SELENBP1_ENST00000368868.5_Missense_Mutation_p.R276L|SELENBP1_ENST00000426705.2_Missense_Mutation_p.R318L			Q13228	SBP1_HUMAN	selenium binding protein 1	276					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTTGTAGAAGCGCTGGATGGT	0.572000													34	132					3.11337e-16	5.44264e-16	0.173368	1	0
ABCA1	19	broad.mit.edu	37	9	107578428	107578428	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr9:107578428T>C	ENST00000374736.3	-	25	4128	c.3734A>G	c.(3733-3735)gAa>gGa	p.E1245G		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1245					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACTTACTTCTTCCAGGGTCGT	0.488000													37	151					0	0	0.235728	0	0
TNN	63923	broad.mit.edu	37	1	175086110	175086110	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:175086110G>A	ENST00000239462.4	+	10	2268	c.2155G>A	c.(2155-2157)Gtg>Atg	p.V719M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	719	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GACCGACCGGGTGACAGAGAA	0.527000													21	121					0	0	0.249174	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581442	140581442	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:140581442T>C	ENST00000354757.3	+	1	2095	c.2095T>C	c.(2095-2097)Tcg>Ccg	p.S699P	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S334P	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		699					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGTGTCTTCGCTCTTCCT	0.687000													15	178					0	0	0.146539	0	0
C8A	731	broad.mit.edu	37	1	57349256	57349256	+	Missense_Mutation	SNP	G	G	T	rs141666945		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:57349256G>T	ENST00000361249.3	+	6	853	c.757G>T	c.(757-759)Ggc>Tgc	p.G253C		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	253	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGTGACCATCGGCATAGGCCC	0.428000													7	69					8.12818e-05	0.000100432	0.248553	1	0
PRR5L	79899	broad.mit.edu	37	11	36472822	36472822	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr11:36472822G>T	ENST00000378867.3	+	9	1004	c.649G>T	c.(649-651)Gtg>Ttg	p.V217L	PRR5L_ENST00000530639.1_Missense_Mutation_p.V217L|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000311599.5_Missense_Mutation_p.V144L|PRR5L_ENST00000389693.3_3'UTR	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	217										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GGTGAAGCAAGTGGTTTCTCC	0.542000													6	71					0.0215528	0.0230156	0.217242	1	0
KIAA1109	84162	broad.mit.edu	37	4	123277052	123277052	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr4:123277052A>T	ENST00000264501.4	+	83	14780	c.14407A>T	c.(14407-14409)Aac>Tac	p.N4803Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.N4803Y			Q2LD37	K1109_HUMAN	KIAA1109	4803					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCTAGCTACAACCATGAAAC	0.398000													7	53					0	0	0.248553	0	0
FGD5	152273	broad.mit.edu	37	3	14861996	14861996	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr3:14861996C>G	ENST00000285046.5	+	1	1528	c.1418C>G	c.(1417-1419)gCg>gGg	p.A473G	FGD5_ENST00000543601.1_Missense_Mutation_p.A232G	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	473					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CTGGTTCCCGCGGACAGGAAG	0.642000													4	45					0	0	0.150653	0	0
AASDH	132949	broad.mit.edu	37	4	57220214	57220214	+	Silent	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr4:57220214A>G	ENST00000205214.6	-	8	1554	c.1374T>C	c.(1372-1374)ctT>ctC	p.L458L	AASDH_ENST00000451613.1_Silent_p.L458L|AASDH_ENST00000513376.1_Silent_p.L358L|AASDH_ENST00000502617.1_Silent_p.L458L|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_Silent_p.L305L	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	458					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CCTGTTGCACAAGTTCAATGT	0.358000													5	41					0	0	0.217242	0	0
SPRTN	83932	broad.mit.edu	37	1	231474216	231474216	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:231474216G>T	ENST00000391858.4	+	1	1367	c.87G>T	c.(85-87)ctG>ctT	p.L29L	SPRTN_ENST00000295050.7_Silent_p.L29L|SPRTN_ENST00000008440.9_Silent_p.L29L					SprT-like N-terminal domain																		AGGAGTCCCTGTCGCTAGTGG	0.582000													16	91					2.62699e-14	4.52532e-14	0.132662	1	0
ALX1	8092	broad.mit.edu	37	12	85677595	85677595	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr12:85677595G>T	ENST00000316824.3	+	2	627	c.472G>T	c.(472-474)Gat>Tat	p.D158Y		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	158					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TCATTACCCGGATGTGTATGT	0.498000													13	103					4.14922e-12	6.89588e-12	0.146539	1	0
PSG6	5675	broad.mit.edu	37	19	43411932	43411932	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr19:43411932A>T	ENST00000187910.2	-	4	846	c.781T>A	c.(781-783)Tgt>Agt	p.C261S	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.C261S	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TTAGGTTCACAGGTGAAGGCT	0.488000													16	285					0	0	0.146539	0	0
GPR78	27201	broad.mit.edu	37	4	8588864	8588864	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr4:8588864C>A	ENST00000382487.4	+	3	1283	c.866C>A	c.(865-867)gCc>gAc	p.A289D	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	289					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						AAGGCGGTGGCCGACCCGTTC	0.677000													13	29					2.27111e-07	3.24838e-07	0.093190	1	0
OR52J3	119679	broad.mit.edu	37	11	5068356	5068356	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr11:5068356G>A	ENST00000380370.1	+	1	601	c.601G>A	c.(601-603)Ggg>Agg	p.G201R		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTATCTATGGGCTTTTTGT	0.448000													18	102					0	0	0.189662	0	0
AGTR1	185	broad.mit.edu	37	3	148458972	148458972	+	Silent	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr3:148458972G>A	ENST00000542281.1	+	4	596	c.150G>A	c.(148-150)gtG>gtA	p.V50V	AGTR1_ENST00000461609.1_Silent_p.V50V|AGTR1_ENST00000402260.1_Silent_p.V50V|AGTR1_ENST00000404754.2_Silent_p.V50V|AGTR1_ENST00000474935.1_Silent_p.V50V|AGTR1_ENST00000497524.1_Silent_p.V50V|AGTR1_ENST00000475347.1_Silent_p.V50V|AGTR1_ENST00000418473.2_Silent_p.V50V|AGTR1_ENST00000349243.3_Silent_p.V50V	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	50					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GCTTGGTGGTGATAGTCATTT	0.363000													10	62					0	0	0.069234	0	0
SOS1	6654	broad.mit.edu	37	2	39240608	39240608	+	Silent	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:39240608T>A	ENST00000426016.1	-	14	2246	c.2160A>T	c.(2158-2160)acA>acT	p.T720T	SOS1_ENST00000395038.2_Silent_p.T720T|SOS1_ENST00000402219.2_Silent_p.T720T			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	720	N-terminal Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TACCTCTTACTGTTCCAATAA	0.343000									Noonan syndrome				9	78					0	0	0.058154	0	0
RANBP6	26953	broad.mit.edu	37	9	6012550	6012550	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr9:6012550T>C	ENST00000259569.5	-	1	3068	c.3058A>G	c.(3058-3060)Act>Gct	p.T1020A		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	1020					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AAACTCAAAGTCTGAATAGCT	0.363000													9	51					0	0	0.047766	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526316	176526316	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:176526316G>T	ENST00000367662.3	+	2	2022	c.858G>T	c.(856-858)gcG>gcT	p.A286A	PAPPA2_ENST00000367661.3_Silent_p.A286A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	286					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCGGGAGGCGTTCACAGTGG	0.572000													4	23					0.150653	0.15594	0.150653	1	0
SYT9	143425	broad.mit.edu	37	11	7441739	7441739	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr11:7441739T>A	ENST00000318881.6	+	6	1577	c.1340T>A	c.(1339-1341)gTa>gAa	p.V447E		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	447	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TTTCACAGTGTAGGTCACAAT	0.433000													12	79					0	0	0.105934	0	0
HSD3B2	3284	broad.mit.edu	37	1	119965138	119965138	+	Silent	SNP	G	G	A	rs116342586	by1000genomes	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:119965138G>A	ENST00000543831.1	+	4	1263	c.1014G>A	c.(1012-1014)gcG>gcA	p.A338A	HSD3B2_ENST00000369416.3_Silent_p.A338A	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	338					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.A338A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GAGATCTGGCGTATAAGCCAC	0.517000													4	60					0	0	0.150653	0	0
GPR31	2853	broad.mit.edu	37	6	167570485	167570485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr6:167570485G>T	ENST00000366834.1	-	1	1332	c.835C>A	c.(835-837)Ccc>Acc	p.P279T		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	279						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		TATACCACGGGGTTGAGCACA	0.602000													8	85					0.27861	0.287127	0.278610	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558333	140558333	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:140558333G>T	ENST00000239444.2	+	1	963	c.718G>T	c.(718-720)Gcc>Tcc	p.A240S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		240	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGATAATGCCCCTGAATT	0.507000													26	391					1.17739e-12	1.98475e-12	0.108266	1	0
ABCB1	5243	broad.mit.edu	37	7	87190601	87190601	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr7:87190601C>T	ENST00000265724.3	-	9	1222	c.805G>A	c.(805-807)Gga>Aga	p.G269R	ABCB1_ENST00000543898.1_Missense_Mutation_p.G205R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	269	ABC transmembrane type-1 1.				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)	TTCTTTTGTCCTCCAAATGCA	0.353000													6	26					0	0	0.217242	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130766994	130766994	+	Silent	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:130766994C>A	ENST00000509018.1	-	26	4228	c.4023G>T	c.(4021-4023)tcG>tcT	p.S1341S	RAPGEF6_ENST00000307984.5_Silent_p.S1354S|FNIP1_ENST00000514667.1_Silent_p.S1391S|RAPGEF6_ENST00000296859.6_Silent_p.S1349S|RAPGEF6_ENST00000507093.1_Silent_p.S1349S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1341	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGCTCACAGACGATGAGACAG	0.423000													8	77					5.4927e-09	8.52814e-09	0.047766	1	0
NLRP12	91662	broad.mit.edu	37	19	54313519	54313519	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr19:54313519G>T	ENST00000324134.6	-	3	1562	c.1394C>A	c.(1393-1395)gCg>gAg	p.A465E	NLRP12_ENST00000391772.1_Missense_Mutation_p.A465E|NLRP12_ENST00000535162.1_Missense_Mutation_p.A465E|NLRP12_ENST00000354278.3_Missense_Mutation_p.A465E|NLRP12_ENST00000351894.4_Missense_Mutation_p.A465E|NLRP12_ENST00000345770.5_Missense_Mutation_p.A465E|NLRP12_ENST00000391775.3_Missense_Mutation_p.A465E|NLRP12_ENST00000391773.1_Missense_Mutation_p.A465E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	465	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCATCTGCCGCCAAGGAGCA	0.597000													10	76					3.86212e-05	4.87412e-05	0.069234	1	0
BMP15	9210	broad.mit.edu	37	X	50659497	50659497	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chrX:50659497T>G	ENST00000252677.3	+	2	1069	c.1069T>G	c.(1069-1071)Tgt>Ggt	p.C357G		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	357					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCGGCCCTCCTGTGTCCCGTA	0.463000													13	89					0	0	0.105934	0	0
NLRP10	338322	broad.mit.edu	37	11	7981383	7981383	+	Silent	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr11:7981383A>G	ENST00000328600.2	-	2	1937	c.1776T>C	c.(1774-1776)aaT>aaC	p.N592N		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	592							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATTTCTTTTCATTTGAATGTT	0.373000													6	41					0	0	0.248553	0	0
SLC3A1	6519	broad.mit.edu	37	2	44547565	44547565	+	Silent	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:44547565C>G	ENST00000260649.6	+	10	1921	c.1845C>G	c.(1843-1845)ccC>ccG	p.P615P	PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000409411.1_3'UTR|SLC3A1_ENST00000409740.3_Silent_p.P246P|PREPL_ENST00000541738.1_3'UTR|SLC3A1_ENST00000409380.1_Silent_p.P337P	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	615			P -> T (in CSNU1).		carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CGGGCCTTCCCGCTAAAATGA	0.408000													8	75					0	0	0.278610	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143692	142143692	+	RNA	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr7:142143692G>A	ENST00000390373.2	-	0	303																											GTCTGAGAGGGAGCAGCTGAC	0.527000													8	133					0	0	0.278610	0	0
KCNK9	51305	broad.mit.edu	37	8	140630797	140630797	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr8:140630797C>T	ENST00000520439.1	-	2	892	c.829G>A	c.(829-831)Gag>Aag	p.E277K	KCNK9_ENST00000303015.1_Missense_Mutation_p.E277K			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	277						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGCGGCTCCTCAGGGATGTGA	0.642000													4	51					0	0	0.150653	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121701174	121701174	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr7:121701174T>A	ENST00000393386.2	+	30	7259	c.6848T>A	c.(6847-6849)gTg>gAg	p.V2283E	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.V1416E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2283					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTCAGCCTTGTGAGCACAAGG	0.428000													13	42					0	0	0.105934	0	0
DMD	1756	broad.mit.edu	37	X	31165576	31165576	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chrX:31165576G>T	ENST00000357033.4	-	75	10819	c.10613C>A	c.(10612-10614)cCa>cAa	p.P3538Q	DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000359836.1_Missense_Mutation_p.P1065Q|DMD_ENST00000378707.3_Missense_Mutation_p.P1078Q|DMD_ENST00000378677.2_Missense_Mutation_p.P3534Q|DMD_ENST00000541735.1_Missense_Mutation_p.P968Q|DMD_ENST00000378702.4_Missense_Mutation_p.P470Q|DMD_ENST00000474231.1_Missense_Mutation_p.P1078Q|DMD_ENST00000361471.4_Missense_Mutation_p.P457Q|DMD_ENST00000378723.3_Missense_Mutation_p.P470Q|DMD_ENST00000378680.2_Missense_Mutation_p.P360Q|DMD_ENST00000343523.2_Missense_Mutation_p.P968Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3538					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGACGGCAGTGGGGACAGGCC	0.498000													3	34					0.115264	0.120364	0.115264	1	0
MOXD1	26002	broad.mit.edu	37	6	132695862	132695862	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr6:132695862G>A	ENST00000367963.3	-	2	437	c.319C>T	c.(319-321)Cat>Tat	p.H107Y	MOXD1_ENST00000336749.3_Missense_Mutation_p.H39Y	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	107	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TATTCTAGATGGTAATCTTGC	0.338000													9	67					0	0	0.058154	0	0
DGKA	1606	broad.mit.edu	37	12	56334126	56334126	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr12:56334126G>T	ENST00000331886.5	+	11	1281	c.827G>T	c.(826-828)gGc>gTc	p.G276V	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.G276V|DGKA_ENST00000551156.1_Missense_Mutation_p.G276V	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	276					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GTGCGAGGAGGCTGTGAGTCC	0.597000											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	111					0.000157383	0.000189502	0.278610	1	0
SPOPL	339745	broad.mit.edu	37	2	139308546	139308546	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:139308546A>C	ENST00000280098.4	+	4	653	c.274A>C	c.(274-276)Agc>Cgc	p.S92R		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	92	MATH.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GCTTTTAGTCAGCTGCCCCAA	0.368000													6	96					0	0	0.278610	0	0
CLCNKB	1188	broad.mit.edu	37	1	16375569	16375569	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:16375569G>A	ENST00000375667.3	+	1	286	c.103G>A	c.(103-105)Ggt>Agt	p.G35S	CLCNKB_ENST00000375679.4_Intron	NM_001165945.2	NP_001159417.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TACAGTCACAGGTGGGTGGGG	0.637000													8	49					0	0	0.278610	0	0
CDH22	64405	broad.mit.edu	37	20	44806629	44806629	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr20:44806629G>C	ENST00000372262.3	-	10	2271	c.1871C>G	c.(1870-1872)cCc>cGc	p.P624R	CDH22_ENST00000537909.1_Missense_Mutation_p.P624R	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	624					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GAGGGCGCCGGGGCTGAGGGA	0.652000													4	33					0	0	0.217242	0	0
GDA	9615	broad.mit.edu	37	9	74860078	74860078	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr9:74860078G>A	ENST00000358399.3	+	12	1243	c.1150G>A	c.(1150-1152)Ggt>Agt	p.G384S	GDA_ENST00000238018.4_Missense_Mutation_p.G384S|GDA_ENST00000376989.3_Missense_Mutation_p.G323S|GDA_ENST00000376986.1_Missense_Mutation_p.G306S|GDA_ENST00000545168.1_Missense_Mutation_p.G310S	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	384					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGGGCTGGATGGTGAGATTGG	0.448000													24	89					0	0	0.099896	0	0
ZNF600	162966	broad.mit.edu	37	19	53268994	53268994	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr19:53268994T>A	ENST00000338230.3	-	3	2282	c.2015A>T	c.(2014-2016)gAc>gTc	p.D672V		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AAAAGTCTTGTCACAAACCTT	0.388000													17	74					0	0	0.146539	0	0
TMEM200B	399474	broad.mit.edu	37	1	29447669	29447669	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:29447669G>T	ENST00000420504.2	-	2	829	c.672C>A	c.(670-672)taC>taA	p.Y224*	TMEM200B_ENST00000521452.1_Nonsense_Mutation_p.Y224*	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	224	Pro-rich.					integral to membrane				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		CCTTCAGCGGGTAGCTGTTGA	0.647000													3	24					0.004672	0.00522555	0.115264	1	0
CACNG6	59285	broad.mit.edu	37	19	54515349	54515349	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr19:54515349T>A	ENST00000252729.2	+	4	1279	c.689T>A	c.(688-690)aTc>aAc	p.I230N	CACNG6_ENST00000352529.1_Missense_Mutation_p.I159N|CACNG6_ENST00000346968.2_Missense_Mutation_p.I184N	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	230						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GCCGGCCTGATCCTGCTGTTG	0.716000													14	70					0	0	0.119110	0	0
VEGFC	7424	broad.mit.edu	37	4	177609073	177609073	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr4:177609073G>T	ENST00000280193.2	-	5	1128	c.713C>A	c.(712-714)gCa>gAa	p.A238E	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	238					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTTGTTCGCTGCCTGACACCT	0.448000													10	35					7.48243e-07	1.03874e-06	0.058154	1	0
MYO16	23026	broad.mit.edu	37	13	109365023	109365023	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr13:109365023A>C	ENST00000356711.2	+	3	367	c.241A>C	c.(241-243)Aag>Cag	p.K81Q	MYO16_ENST00000251041.5_Missense_Mutation_p.K81Q|MYO16_ENST00000357550.2_Missense_Mutation_p.K81Q	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	81					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCGGCTCCTGAAGGAGGGGGC	0.557000													8	82					0	0	0.047766	0	0
TXLNB	167838	broad.mit.edu	37	6	139591742	139591742	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr6:139591742G>T	ENST00000358430.3	-	4	770	c.538C>A	c.(538-540)Caa>Aaa	p.Q180K		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	180						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AACTTCTTTTGCTCAGTACGA	0.408000													3	34					0.115264	0.120364	0.115264	1	0
CRIPAK	285464	broad.mit.edu	37	4	1389481	1389481	+	Silent	SNP	C	C	T	rs149222149	byFrequency	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr4:1389481C>T	ENST00000324803.4	+	1	4142	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	394	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.P394P(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGGAGTGCCCGCCTGCTCAC	0.612000													16	188					0	0	0.175082	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288319	132288319	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:132288319G>C	ENST00000467992.2	+	1	1083	c.769G>C	c.(769-771)Ggt>Cgt	p.G257R	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000295171.6_Missense_Mutation_p.G155R			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	155										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCTTGCGGGCGGTAGCGCCGA	0.637000													5	70					0	0	0.184627	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													3	36					0	0	0.150653	0	0
LOC440040	440040	broad.mit.edu	37	11	49597897	49597897	+	RNA	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr11:49597897G>T	ENST00000527477.1	+	0	501																											CATGCTGGGTGACATCATTAT	0.498000													10	37					0.000673444	0.00078292	0.069234	1	0
RBBP8	5932	broad.mit.edu	37	18	20572760	20572760	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr18:20572760C>T	ENST00000399722.2	+	11	1321	c.970C>T	c.(970-972)Cga>Tga	p.R324*	RBBP8_ENST00000327155.5_Nonsense_Mutation_p.R324*|RBBP8_ENST00000360790.5_Nonsense_Mutation_p.R324*|RBBP8_ENST00000399725.2_Nonsense_Mutation_p.R324*	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	324					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			ATTACCTACTCGAGTGTCATC	0.338000								Homologous recombination					13	85					0	0	0.105934	0	0
SPINK5	11005	broad.mit.edu	37	5	147499581	147499581	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:147499581G>C	ENST00000359874.3	+	25	2396	c.2323G>C	c.(2323-2325)Gat>Cat	p.D775H	SPINK5_ENST00000398454.1_Missense_Mutation_p.D775H|SPINK5_ENST00000256084.7_Missense_Mutation_p.D775H	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	775	Kazal-like 12.				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)			GGATACATGTGATGAGTTTAG	0.393000													8	24					0	0	0.278610	0	0
AQP12B	653437	broad.mit.edu	37	2	241622051	241622051	+	Silent	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:241622051C>A	ENST00000407834.3	-	1	266	c.204G>T	c.(202-204)ggG>ggT	p.G68G		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	56						integral to membrane	transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCAGGTCAGGCCCAAAGTCCC	0.697000													7	42					0.000157383	0.000189502	0.278610	1	0
ZBBX	79740	broad.mit.edu	37	3	167051692	167051692	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr3:167051692C>A	ENST00000392766.2	-	10	950	c.610G>T	c.(610-612)Gag>Tag	p.E204*	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.E204*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.E204*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.E204*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.E175*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	204						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GAATTATTCTCCTCTTTGGGT	0.333000													12	40					0.00136819	0.00155987	0.093190	1	0
CD244	51744	broad.mit.edu	37	1	160801171	160801171	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:160801171C>A	ENST00000368034.4	-	9	1241	c.1064G>T	c.(1063-1065)cGc>cTc	p.R355L	CD244_ENST00000368033.3_Missense_Mutation_p.R360L|CD244_ENST00000322302.7_Missense_Mutation_p.R263L	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	360					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGCTCTTTGCGGCTCAATCG	0.463000													9	124					1.08611e-07	1.57252e-07	0.080935	1	0
SEMA6B	10501	broad.mit.edu	37	19	4550282	4550282	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr19:4550282G>T	ENST00000586582.1	-	12	1434	c.1124C>A	c.(1123-1125)cCc>cAc	p.P375H	SEMA6B_ENST00000586965.1_Missense_Mutation_p.P375H|SEMA6B_ENST00000301293.3_Missense_Mutation_p.P375H	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	375	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCACCCGGGCCTGGGGGT	0.597000													6	42					8.12818e-05	0.000100432	0.248553	1	0
OR8S1	341568	broad.mit.edu	37	12	48919741	48919741	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr12:48919741G>T	ENST00000310194.1	+	1	327	c.327G>T	c.(325-327)ggG>ggT	p.G109G	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TCACTGCAGGGACTGAAGCCT	0.522000													11	73					3.07112e-06	4.00433e-06	0.080935	1	0
GPNMB	10457	broad.mit.edu	37	7	23293804	23293804	+	Silent	SNP	G	G	A	rs149206943		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr7:23293804G>A	ENST00000258733.4	+	3	535	c.240G>A	c.(238-240)gcG>gcA	p.A80A	GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000453162.2_Silent_p.A80A|GPNMB_ENST00000381990.2_Silent_p.A80A|GPNMB_ENST00000409458.3_Silent_p.A80A			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	80					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GTGTGCAGGCGGTCCTGACCA	0.453000													16	106					0	0	0.146539	0	0
ATRX	546	broad.mit.edu	37	X	76855002	76855002	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chrX:76855002C>T	ENST00000373344.5	-	25	6048	c.5834G>A	c.(5833-5835)gGa>gAa	p.G1945E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.G1907E	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1945	Poly-Ser.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACTGCCACTTCCACTTGAGCT	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						44	383					0	0	0.139131	0	0
ANO3	63982	broad.mit.edu	37	11	26677945	26677945	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr11:26677945C>A	ENST00000256737.3	+	26	3532	c.2680C>A	c.(2680-2682)Ccc>Acc	p.P894T	ANO3_ENST00000531568.1_Missense_Mutation_p.P748T|ANO3_ENST00000525139.1_Missense_Mutation_p.P878T|ANO3_ENST00000537978.1_Missense_Mutation_p.P878T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	894						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAGAGGCCCGCCCTGGAGTTC	0.413000													18	91					8.28177e-16	1.43713e-15	0.189662	1	0
IGKV1-17	28937	broad.mit.edu	37	2	89417046	89417046	+	RNA	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:89417046C>A	ENST00000490686.1	-	0	164																											CCTGACTTGCCCGGCAAGTGA	0.512000													17	143					8.10497e-08	1.203e-07	0.219247	1	0
PYHIN1	149628	broad.mit.edu	37	1	158911793	158911793	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:158911793C>A	ENST00000368140.1	+	5	851	c.606C>A	c.(604-606)caC>caA	p.H202Q	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.H193Q|PYHIN1_ENST00000368138.3_Missense_Mutation_p.H193Q|PYHIN1_ENST00000392254.2_Missense_Mutation_p.H202Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	202	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CCAACCGTCACGCAACTGCCA	0.373000													9	54					3.86212e-05	4.87412e-05	0.069234	1	0
SUGP2	10147	broad.mit.edu	37	19	19115386	19115386	+	Silent	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr19:19115386T>A	ENST00000601879.1	-	7	2817	c.2520A>T	c.(2518-2520)tcA>tcT	p.S840S	SUGP2_ENST00000456085.2_Silent_p.S609S|SUGP2_ENST00000600377.1_Silent_p.S854S|SUGP2_ENST00000452918.2_Silent_p.S840S|SUGP2_ENST00000337018.6_Silent_p.S840S			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	840					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGAAACAAATTGATGGACATA	0.473000													7	99					0	0	0.278610	0	0
SACS	26278	broad.mit.edu	37	13	23909100	23909100	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr13:23909100G>T	ENST00000382298.3	-	10	9503	c.8915C>A	c.(8914-8916)cCa>cAa	p.P2972Q	SACS_ENST00000402364.1_Missense_Mutation_p.P2222Q|SACS_ENST00000382292.3_Missense_Mutation_p.P2972Q	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2972					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATATAAATCTGGCTGTAGATC	0.383000													7	92					2.7689e-08	4.18884e-08	0.248553	1	0
EFCAB5	374786	broad.mit.edu	37	17	28405333	28405333	+	Silent	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr17:28405333C>T	ENST00000394835.3	+	15	3030	c.2838C>T	c.(2836-2838)ctC>ctT	p.L946L	EFCAB5_ENST00000320856.5_Silent_p.L822L|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	946							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGTCTGAACTCAGGGGCAATG	0.428000													8	122					0	0	0.047766	0	0
MYO9A	4649	broad.mit.edu	37	15	72190149	72190149	+	Silent	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr15:72190149G>C	ENST00000356056.5	-	25	5167	c.4695C>G	c.(4693-4695)acC>acG	p.T1565T	MYO9A_ENST00000424560.1_Silent_p.T1565T|MYO9A_ENST00000564571.1_Silent_p.T1565T|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Silent_p.T1185T|MYO9A_ENST00000444904.1_Silent_p.T1546T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1565	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCTTATTTGAGGTATTTAAGC	0.448000													10	31					0	0	0.069234	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066557	9066557	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:9066557C>A	ENST00000382496.5	-	17	2940	c.2275G>T	c.(2275-2277)Ggc>Tgc	p.G759C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	759	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCACTGGTGCCGTCGCTAGAA	0.517000													12	146					0.000978159	0.0011316	0.080935	1	0
MIR523	574471	broad.mit.edu	37	19	54201716	54201716	+	RNA	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr19:54201716C>A	ENST00000385281.1	+	0	78					NR_030193.1																						TAGAGGGTTACCCTTTGAGAA	0.458000													7	43					0.00198382	0.00225087	0.248553	1	0
COL19A1	1310	broad.mit.edu	37	6	70812089	70812089	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr6:70812089G>T	ENST00000322773.4	+	16	1355	c.1253G>T	c.(1252-1254)gGa>gTa	p.G418V	COL19A1_ENST00000393344.1_Missense_Mutation_p.G40V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	418	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.G418E(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGACCTCCCGGAAAACCAGGA	0.373000													7	89					5.18039e-06	6.71743e-06	0.278610	1	0
WBSCR28	135886	broad.mit.edu	37	7	73279468	73279468	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr7:73279468T>A	ENST00000320531.2	+	2	254	c.218T>A	c.(217-219)cTg>cAg	p.L73Q		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	73						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GCCTGCCCCCTGGGCCAGGCT	0.672000													8	123					0	0	0.278610	0	0
FAT3	120114	broad.mit.edu	37	11	92087327	92087327	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr11:92087327C>A	ENST00000298047.6	+	1	2066	c.2049C>A	c.(2047-2049)tgC>tgA	p.C683*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.C683*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.C683*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.C533*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	683					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTTCAGTTGCAGAGAAACTC	0.413000										TCGA Ovarian(4;0.039)			12	62					7.93312e-07	1.09486e-06	0.119110	1	0
SLC39A12	221074	broad.mit.edu	37	10	18292257	18292257	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr10:18292257G>T	ENST00000377369.2	+	12	2190	c.1917G>T	c.(1915-1917)ggG>ggT	p.G639G	SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000377374.4_Silent_p.G602G|SLC39A12_ENST00000377371.3_Silent_p.G638G|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Silent_p.G505G	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	639					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCACTGCTGGGATGTTCTTAT	0.373000													20	103					9.7654e-05	0.000120033	0.189662	1	0
GLIPR1L2	144321	broad.mit.edu	37	12	75804431	75804431	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr12:75804431G>T	ENST00000550916.1	+	2	499	c.452G>T	c.(451-453)tGc>tTc	p.C151F	GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.C151F|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.C86F|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.C151F|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.C151F|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.C44F	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	151						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						AATGGCAGTTGCTCTGGAGAC	0.313000													7	40					2.0095e-06	2.70995e-06	0.248553	1	0
P2RY10	27334	broad.mit.edu	37	X	78216671	78216671	+	Silent	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chrX:78216671C>A	ENST00000171757.2	+	4	934	c.654C>A	c.(652-654)acC>acA	p.T218T	P2RY10_ENST00000544091.1_Silent_p.T218T	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	218						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CATGGTGTACCTGGAAAACTA	0.478000													10	44					3.07112e-06	4.00433e-06	0.080935	1	0
FAF2	23197	broad.mit.edu	37	5	175927110	175927110	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:175927110G>T	ENST00000261942.6	+	10	1171	c.1118G>T	c.(1117-1119)cGa>cTa	p.R373L		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	373	UBX.				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AATGATTCTCGAGTAGAGAGA	0.438000													8	103					0.000442599	0.000522267	0.058154	1	0
SLC2A9	56606	broad.mit.edu	37	4	9836623	9836623	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr4:9836623G>T	ENST00000506583.1	-	13	1431	c.1214C>A	c.(1213-1215)cCg>cAg	p.P405Q	SLC2A9_ENST00000309065.3_Missense_Mutation_p.P405Q|SLC2A9_ENST00000264784.3_Missense_Mutation_p.P434Q			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	434					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CAAGATGAACGGGATGCCACC	0.542000													6	54					6.5536e-12	1.08157e-11	0.278610	1	0
DDX53	168400	broad.mit.edu	37	X	23019760	23019760	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chrX:23019760G>A	ENST00000327968.5	+	1	1674	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	529	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						ATAGTATCCCGAGGTCTTGAT	0.383000													6	129					0	0	0.248553	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768461	31768461	+	Silent	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr19:31768461G>A	ENST00000240587.4	-	2	2565	c.2238C>T	c.(2236-2238)ccC>ccT	p.P746P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	746					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GCATGCTCATGGGGTCCAGGG	0.617000													8	66					0	0	0.047766	0	0
LAMB3	3914	broad.mit.edu	37	1	209799302	209799302	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:209799302C>G	ENST00000391911.1	-	13	2056	c.1667G>C	c.(1666-1668)cGc>cCc	p.R556P	LAMB3_ENST00000356082.4_Missense_Mutation_p.R556P|LAMB3_ENST00000367030.3_Missense_Mutation_p.R556P	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	556	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CAAGCCAGGGCGGCAGAGGCA	0.622000													7	21					0	0	0.278610	0	0
RBM19	9904	broad.mit.edu	37	12	114362517	114362517	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr12:114362517T>A	ENST00000545145.2	-	18	2368	c.2290A>T	c.(2290-2292)Aag>Tag	p.K764*	RBM19_ENST00000261741.5_Nonsense_Mutation_p.K764*|RBM19_ENST00000392561.3_Nonsense_Mutation_p.K764*	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	764	RRM 5.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTGTTCTTCTTCTTGGAGATG	0.448000													17	105					0	0	0.175082	0	0
COL4A6	1288	broad.mit.edu	37	X	107431764	107431764	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chrX:107431764C>A	ENST00000334504.7	-	21	1803	c.1570G>T	c.(1570-1572)Ggc>Tgc	p.G524C	COL4A6_ENST00000538570.1_Missense_Mutation_p.G524C|COL4A6_ENST00000394872.2_Missense_Mutation_p.G525C|COL4A6_ENST00000545689.1_Missense_Mutation_p.G524C|COL4A6_ENST00000372216.4_Missense_Mutation_p.G525C	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	525	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTGCTGGGCCCTGTGCACCC	0.572000									Alport syndrome with Diffuse Leiomyomatosis				6	56					2.0095e-06	2.70995e-06	0.248553	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29417272	29417272	+	Splice_Site	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chrX:29417272G>C	ENST00000378993.1	+	5	1223	c.549_splice	c.e5-1	p.E184_splice	IL1RAPL1_ENST00000302196.4_Splice_Site_p.E184_splice	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	184	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTTCATATAGGAATGCAGGAC	0.294000													4	68					0	0	0.184627	0	0
LRRC32	2615	broad.mit.edu	37	11	76372160	76372160	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr11:76372160G>T	ENST00000407242.2	-	3	719	c.477C>A	c.(475-477)aaC>aaA	p.N159K	LRRC32_ENST00000404995.1_Missense_Mutation_p.N159K|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.N159K|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	159						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGTCAGACTGTTCTCCGCCA	0.642000													8	40					3.09899e-07	4.40579e-07	0.047766	1	0
LMAN1	3998	broad.mit.edu	37	18	57026271	57026271	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr18:57026271T>A	ENST00000251047.5	-	1	923	c.206A>T	c.(205-207)cAc>cTc	p.H69L		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	69	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ACTCCCCGCGTGGGCCCAGAA	0.667000													6	53					0	0	0.248553	0	0
ZNF182	7569	broad.mit.edu	37	X	47836373	47836373	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chrX:47836373C>A	ENST00000396965.1	-	7	1463	c.1113G>T	c.(1111-1113)aaG>aaT	p.K371N	ZNF182_ENST00000305127.6_Missense_Mutation_p.K371N|ZNF182_ENST00000376943.3_Missense_Mutation_p.K352N	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CATGGGGTTTCTTTCCTGTAT	0.363000													7	128					1.12685e-05	1.45321e-05	0.047766	1	0
KCNS2	3788	broad.mit.edu	37	8	99441377	99441377	+	Silent	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr8:99441377T>A	ENST00000287042.4	+	2	1520	c.1170T>A	c.(1168-1170)acT>acA	p.T390T	KCNS2_ENST00000521839.1_Silent_p.T390T	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	390						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GAAAGCTGACTGCCTCTGCCT	0.592000													14	97					0	0	0.105934	0	0
ASH1L	55870	broad.mit.edu	37	1	155408566	155408566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:155408566G>A	ENST00000368346.3	-	5	6019	c.5380C>T	c.(5380-5382)Cat>Tat	p.H1794Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.H1794Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1794					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.H1794delH(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTCTTGATATGATGGGGGGAA	0.433000													10	155					0	0	0.058154	0	0
IRX3	79191	broad.mit.edu	37	16	54318982	54318982	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr16:54318982C>A	ENST00000329734.3	-	2	1523	c.811G>T	c.(811-813)Gct>Tct	p.A271S		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	271					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GCCGCCCCAGCCAGGGACAGC	0.652000													10	21					3.07112e-06	4.00433e-06	0.080935	1	0
RFX6	222546	broad.mit.edu	37	6	117237203	117237203	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr6:117237203C>A	ENST00000332958.2	+	8	829	c.813C>A	c.(811-813)caC>caA	p.H271Q	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	271					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACAAAACTCACTGCCAGTGTA	0.333000													12	57					4.3838e-07	6.1582e-07	0.105934	1	0
RXFP3	51289	broad.mit.edu	37	5	33937383	33937383	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:33937383C>A	ENST00000330120.3	+	1	893	c.538C>A	c.(538-540)Cgc>Agc	p.R180S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	180						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GAGTGTGACGCGCTACCATTC	0.627000													6	64					2.0095e-06	2.70995e-06	0.248553	1	0
OLFML2B	25903	broad.mit.edu	37	1	161953806	161953806	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:161953806C>A	ENST00000294794.3	-	8	2335	c.1912G>T	c.(1912-1914)Gat>Tat	p.D638Y	OLFML2B_ENST00000367938.1_Missense_Mutation_p.D121Y|OLFML2B_ENST00000367940.2_Missense_Mutation_p.D639Y	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	638	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			AAGCCCTCATCGTCCAGGGCC	0.632000													6	62					0.00116845	0.00133861	0.217242	1	0
CHRNA1	1134	broad.mit.edu	37	2	175614801	175614801	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:175614801G>T	ENST00000348749.5	-	7	952	c.875C>A	c.(874-876)cCc>cAc	p.P292H	CHRNA1_ENST00000409219.1_Missense_Mutation_p.P292H|CHRNA1_ENST00000409542.1_Missense_Mutation_p.P210H|CHRNA1_ENST00000261007.5_Missense_Mutation_p.P317H|AC018890.6_ENST00000442996.1_RNA	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	317					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TCCAATCAAGGGCACAGCACT	0.512000													10	50					3.07112e-06	4.00433e-06	0.080935	1	0
VENTX	27287	broad.mit.edu	37	10	135053795	135053795	+	Silent	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr10:135053795G>A	ENST00000325980.9	+	3	1273	c.762G>A	c.(760-762)acG>acA	p.T254T		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	254					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		TGCCACAGACGGGGGATGCAT	0.657000													3	30					0	0	0.115264	0	0
OR5T3	390154	broad.mit.edu	37	11	56020007	56020007	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr11:56020007T>C	ENST00000303059.3	+	1	332	c.332T>C	c.(331-333)aTg>aCg	p.M111T		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ACTCCAAAAATGTTGGTCAAT	0.358000													22	135					0	0	0.249174	0	0
GRIK2	2898	broad.mit.edu	37	6	102307276	102307276	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr6:102307276T>C	ENST00000369138.1	+	10	1922	c.1432T>C	c.(1432-1434)Tat>Cat	p.Y478H	GRIK2_ENST00000413795.1_Missense_Mutation_p.Y478H|GRIK2_ENST00000369134.4_Missense_Mutation_p.Y429H|GRIK2_ENST00000369137.3_Missense_Mutation_p.Y478H|GRIK2_ENST00000318991.6_Missense_Mutation_p.Y478H|GRIK2_ENST00000421544.1_Missense_Mutation_p.Y478H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	478					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGGCTTTACATATGAAATTAG	0.393000													9	56					0	0	0.058154	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162441	33162441	+	RNA	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:33162441A>G	ENST00000510327.1	-	0	346																											GGGAAGTAACAAGAAATACCG	0.537000													4	39					0	0	0.217242	0	0
SOX5	6660	broad.mit.edu	37	12	23728634	23728634	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr12:23728634C>A	ENST00000546136.1	-	9	1266	c.1264G>T	c.(1264-1266)Gca>Tca	p.A422S	SOX5_ENST00000537393.1_Missense_Mutation_p.A400S|SOX5_ENST00000451604.2_Missense_Mutation_p.A435S|SOX5_ENST00000545921.1_Missense_Mutation_p.A425S|SOX5_ENST00000309359.1_Missense_Mutation_p.A422S|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.A49S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	435					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCTAACGCTGCTGGGACAGAG	0.478000													14	232					2.32078e-09	3.67587e-09	0.132662	1	0
BRINP3	339479	broad.mit.edu	37	1	190067232	190067232	+	Silent	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:190067232C>G	ENST00000367462.3	-	8	2448	c.2217G>C	c.(2215-2217)gtG>gtC	p.V739V	FAM5C_ENST00000534846.1_Silent_p.V637V|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		739						extracellular region		p.V739V(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GGATCCTCACCACCTCACTAG	0.438000													12	105					0	0	0.080935	0	0
SPEF2	79925	broad.mit.edu	37	5	35649461	35649461	+	Splice_Site	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:35649461A>G	ENST00000440995.2	+	6	726		c.e6-1		SPEF2_ENST00000356031.3_Splice_Site|SPEF2_ENST00000509059.1_Splice_Site|SPEF2_ENST00000282469.6_Splice_Site			Q9C093	SPEF2_HUMAN	sperm flagellar 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTTCTTTAAAGGATGTGGCT	0.303000													8	81					0	0	0.278610	0	0
ZNF433	163059	broad.mit.edu	37	19	12127282	12127282	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr19:12127282A>G	ENST00000419886.2	-	5	586	c.295T>C	c.(295-297)Tat>Cat	p.Y99H	CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.Y134H|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TATTCTTGATACTCATATGCC	0.393000													5	68					0	0	0.184627	0	0
GCNT4	51301	broad.mit.edu	37	5	74325583	74325583	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:74325583C>T	ENST00000322348.4	-	1	1141	c.280G>A	c.(280-282)Gac>Aac	p.D94N		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	94					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TCAATGATGTCCCTTCTTCTT	0.403000													13	151					0	0	0.093190	0	0
EPB41L3	23136	broad.mit.edu	37	18	5434002	5434002	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr18:5434002G>A	ENST00000341928.2	-	7	1064	c.724C>T	c.(724-726)Cca>Tca	p.P242S	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P242S|EPB41L3_ENST00000400111.3_Missense_Mutation_p.P242S|EPB41L3_ENST00000544123.1_Missense_Mutation_p.P242S|EPB41L3_ENST00000540638.2_Missense_Mutation_p.P242S	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	242	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CATTCATCTGGGTCATAGTCT	0.527000													9	168					0	0	0.047766	0	0
HSPG2	3339	broad.mit.edu	37	1	22174314	22174314	+	Silent	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:22174314C>T	ENST00000374695.3	-	61	7972	c.7893G>A	c.(7891-7893)ccG>ccA	p.P2631P	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2631	Ig-like C2-type 12.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGATCCTGATCGGTGGGGAGA	0.627000													6	41					0	0	0.278610	0	0
COL4A2	1284	broad.mit.edu	37	13	111147722	111147722	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr13:111147722G>A	ENST00000360467.5	+	40	3974	c.3668G>A	c.(3667-3669)gGc>gAc	p.G1223D		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1223	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCTTCCCAGGCCCTCCTGGG	0.567000													10	96					0	0	0.080935	0	0
ULK1	8408	broad.mit.edu	37	12	132393327	132393327	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr12:132393327G>T	ENST00000321867.4	+	6	806	c.455G>T	c.(454-456)cGc>cTc	p.R152L		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	152	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCCGCCGGCCGCCGCGCCAAC	0.721000													5	26					0.00116845	0.00133861	0.217242	1	0
OBSCN	84033	broad.mit.edu	37	1	228558725	228558725	+	Splice_Site	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:228558725G>A	ENST00000570156.2	+	105	23191	c.23115_splice	c.e105-1	p.R7706_splice	OBSCN_ENST00000366707.4_Splice_Site_p.R4383_splice|OBSCN_ENST00000422127.1_Splice_Site_p.R6749_splice	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6749	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGTTCCAGCGTTCCCTGATG	0.677000													8	59					0	0	0.047766	0	0
IRX4	50805	broad.mit.edu	37	5	1880845	1880845	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:1880845T>C	ENST00000505790.1	-	4	857	c.401A>G	c.(400-402)tAt>tGt	p.Y134C	IRX4_ENST00000513692.1_Missense_Mutation_p.Y134C|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.Y134C	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	134					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TCACCTGTCATAGGGGTACTG	0.627000													4	61					0	0	0.217242	0	0
CHPF	79586	broad.mit.edu	37	2	220404988	220404988	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:220404988G>C	ENST00000243776.6	-	4	1693	c.1445C>G	c.(1444-1446)aCt>aGt	p.T482S	CHPF_ENST00000535926.1_Missense_Mutation_p.T320S	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	482						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CACTCGGCGAGTGAGGGGCCG	0.652000													5	22					0	0	0.184627	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482386	140482386	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:140482386G>T	ENST00000231130.2	+	1	2153	c.2153G>T	c.(2152-2154)aGg>aTg	p.R718M		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		718					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGGAGCAGGGCGGCCTCG	0.662000													16	159					1.00905e-13	1.72562e-13	0.204396	1	0
GPATCH8	23131	broad.mit.edu	37	17	42476845	42476845	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr17:42476845C>A	ENST00000434000.1	-	9	2648	c.2366G>T	c.(2365-2367)cGg>cTg	p.R789L	GPATCH8_ENST00000591680.1_Missense_Mutation_p.R867L			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	867						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTAAGAACGCCGGGAGGAACG	0.537000													8	97					0.000157383	0.000189502	0.278610	1	0
TENM2	57451	broad.mit.edu	37	5	167643912	167643912	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:167643912C>A	ENST00000519204.1	+	21	3973	c.3855C>A	c.(3853-3855)agC>agA	p.S1285R	TENM2_ENST00000518659.1_Missense_Mutation_p.S1406R|TENM2_ENST00000545108.1_Missense_Mutation_p.S1405R|TENM2_ENST00000403607.2_Missense_Mutation_p.S1230R|TENM2_ENST00000520394.1_Missense_Mutation_p.S1167R					teneurin transmembrane protein 2																		GTGATTCCAGCATGGATGTAG	0.527000													14	80					3.27435e-08	4.92196e-08	0.119110	1	0
DSP	1832	broad.mit.edu	37	6	7584233	7584233	+	Silent	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr6:7584233T>A	ENST00000379802.3	+	24	7079	c.6738T>A	c.(6736-6738)gtT>gtA	p.V2246V	DSP_ENST00000418664.2_Silent_p.V1647V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2246	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGACGAGGTTGGTGAGAGAA	0.443000													14	33					0	0	0.105934	0	0
PLK1	5347	broad.mit.edu	37	16	23691457	23691457	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr16:23691457G>T	ENST00000300093.4	+	2	572	c.461G>T	c.(460-462)cGa>cTa	p.R154L	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	154	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCTGAGGCCCGATACTACCTA	0.557000													7	43					8.12818e-05	0.000100432	0.248553	1	0
PARD3B	117583	broad.mit.edu	37	2	206165275	206165275	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:206165275G>T	ENST00000406610.2	+	17	2414	c.2207G>T	c.(2206-2208)gGt>gTt	p.G736V	PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000349953.3_Missense_Mutation_p.G736V|PARD3B_ENST00000462231.1_Missense_Mutation_p.G736V|PARD3B_ENST00000358768.2_Missense_Mutation_p.G674V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	736					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAAGATTTTGGTCCAACTCTG	0.488000													24	97					6.21321e-17	1.11085e-16	0.264190	1	0
SSMEM1	136263	broad.mit.edu	37	7	129847876	129847876	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr7:129847876G>T	ENST00000297819.3	+	1	177	c.126G>T	c.(124-126)ctG>ctT	p.L42L		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1																		GGAGCTTCCTGCTTTGGTATT	0.398000													21	103					1.36565e-18	2.47917e-18	0.264190	1	0
OR2T12	127064	broad.mit.edu	37	1	248458056	248458056	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:248458056G>C	ENST00000317996.1	-	1	824	c.825C>G	c.(823-825)ttC>ttG	p.F275L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACATAGTATAGAAGGCTGACA	0.483000													23	152					0	0	0.279207	0	0
NALCN	259232	broad.mit.edu	37	13	101735531	101735531	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr13:101735531G>T	ENST00000251127.6	-	32	3683	c.3602C>A	c.(3601-3603)gCt>gAt	p.A1201D		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1201						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATACATTTTAGCTCTAAAACC	0.388000													5	32					0.000602214	0.000703577	0.184627	1	0
UNC45B	146862	broad.mit.edu	37	17	33504149	33504149	+	Splice_Site	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr17:33504149G>T	ENST00000268876.5	+	16	2242	c.2145_splice	c.e16+1	p.R715_splice	UNC45B_ENST00000591048.1_Splice_Site_p.R634_splice|UNC45B_ENST00000394570.2_Splice_Site_p.R713_splice|UNC45B_ENST00000378449.1_Splice_Site_p.R634_splice|UNC45B_ENST00000433649.1_Splice_Site_p.R713_splice	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	715					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTGGGGAGCGGGTAGGTGCTT	0.582000													5	38					0.014758	0.0160502	0.184627	1	0
MYO18B	84700	broad.mit.edu	37	22	26193997	26193997	+	Silent	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr22:26193997C>T	ENST00000335473.7	+	12	2704	c.2454C>T	c.(2452-2454)agC>agT	p.S818S	MYO18B_ENST00000407587.2_Silent_p.S818S|MYO18B_ENST00000536101.1_Silent_p.S818S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	818	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTCAGAGAGCGAGCAGCGGG	0.647000													10	46					0	0	0.069234	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140787938	140787938	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:140787938A>T	ENST00000520790.1	+	1	169	c.169A>T	c.(169-171)Agt>Tgt	p.S57C	PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAGGGCTCAGTGTCCTGGA	0.597000													8	54					0	0	0.058154	0	0
KCNT2	343450	broad.mit.edu	37	1	196309558	196309558	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:196309558G>T	ENST00000367433.5	-	16	1797	c.1696C>A	c.(1696-1698)Caa>Aaa	p.Q566K	KCNT2_ENST00000367431.4_Missense_Mutation_p.Q516K|KCNT2_ENST00000451324.2_Missense_Mutation_p.Q177K|KCNT2_ENST00000294725.8_Missense_Mutation_p.Q566K|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	566						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGCTGGTCTTGGTTTTTAAAT	0.353000													11	72					1.08611e-07	1.57252e-07	0.080935	1	0
PDE3A	5139	broad.mit.edu	37	12	20833070	20833070	+	Silent	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr12:20833070A>T	ENST00000359062.3	+	16	3331	c.3291A>T	c.(3289-3291)gcA>gcT	p.A1097A	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1097					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AACGGTTGGCAGGCATAGAAA	0.448000													6	86					0	0	0.217242	0	0
SCPEP1	59342	broad.mit.edu	37	17	55072972	55072972	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr17:55072972G>T	ENST00000262288.3	+	8	817	c.762G>T	c.(760-762)ggG>ggT	p.G254G		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	254					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AGCTGTGGGGGAAAGCAGAAA	0.507000													12	51					1.08611e-07	1.57252e-07	0.080935	1	0
TTC37	9652	broad.mit.edu	37	5	94834075	94834075	+	Splice_Site	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:94834075T>A	ENST00000358746.2	-	33	3860	c.3563_splice	c.e33+1	p.S1188_splice		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1188							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AGAATTTACCTGTGAACAGCT	0.353000													16	104					0	0	0.160694	0	0
CSMD1	64478	broad.mit.edu	37	8	2967820	2967820	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr8:2967820G>T	ENST00000520002.1	-	44	7026	c.6471C>A	c.(6469-6471)acC>acA	p.T2157T	CSMD1_ENST00000602723.1_Silent_p.T2157T|CSMD1_ENST00000602557.1_Silent_p.T2157T|CSMD1_ENST00000542608.1_Silent_p.T2156T|CSMD1_ENST00000537824.1_Silent_p.T2156T|CSMD1_ENST00000400186.3_Silent_p.T2157T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2157	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGAGTAGATGGTGCCGTTCT	0.488000													5	9					3.59834e-05	4.59031e-05	0.217242	1	0
VPS13A	23230	broad.mit.edu	37	9	79984229	79984229	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr9:79984229G>T	ENST00000360280.3	+	63	8828	c.8568G>T	c.(8566-8568)atG>atT	p.M2856I	VPS13A_ENST00000376634.4_Missense_Mutation_p.M2856I|VPS13A_ENST00000376636.3_Missense_Mutation_p.M2817I|VPS13A_ENST00000357409.5_Missense_Mutation_p.M2856I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2856					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTAAGCAGATGTATGTACTCA	0.299000													22	82					2.21704e-12	3.71078e-12	0.264190	1	0
EMR1	2015	broad.mit.edu	37	19	6928172	6928172	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr19:6928172G>T	ENST00000312053.4	+	17	2276	c.2239G>T	c.(2239-2241)Gag>Tag	p.E747*	EMR1_ENST00000381407.5_Nonsense_Mutation_p.E606*|EMR1_ENST00000450315.3_Nonsense_Mutation_p.E570*|EMR1_ENST00000381404.4_Nonsense_Mutation_p.E695*|EMR1_ENST00000250572.8_Nonsense_Mutation_p.E682*	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	747					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GCTGAATACAGAGACAGGGTT	0.498000													28	124					3.73988e-18	6.7375e-18	0.116897	1	0
TRPV5	56302	broad.mit.edu	37	7	142622765	142622765	+	Silent	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr7:142622765C>A	ENST00000265310.1	-	8	1329	c.981G>T	c.(979-981)ccG>ccT	p.P327P	TRPV5_ENST00000442623.1_Silent_p.P327P	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	327					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGCAGAAGTACGGCCGGCCAT	0.552000													9	38					0.0581538	0.0615439	0.058154	1	0
RGS7	6000	broad.mit.edu	37	1	240969527	240969527	+	Silent	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:240969527G>C	ENST00000366565.1	-	15	1563	c.1182C>G	c.(1180-1182)ccC>ccG	p.P394P	RGS7_ENST00000366562.4_Silent_p.P394P|RGS7_ENST00000366564.1_Silent_p.P394P|RGS7_ENST00000348120.2_Silent_p.P341P|RGS7_ENST00000331110.7_Silent_p.P368P|RGS7_ENST00000446183.2_Silent_p.P310P|RGS7_ENST00000366563.1_Silent_p.P394P|RGS7_ENST00000407727.1_Silent_p.P394P|RGS7_ENST00000401882.1_Silent_p.P341P	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	394	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.P394P(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TAATAGCACTGGGGGCTCCGG	0.478000													15	104					0	0	0.132662	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			24	23					0	0	0.108266	0	0
SEC14L1	6397	broad.mit.edu	37	17	75192327	75192327	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr17:75192327G>T	ENST00000413679.2	+	8	1056	c.753G>T	c.(751-753)ttG>ttT	p.L251F	SEC14L1_ENST00000443798.4_Missense_Mutation_p.L251F|SEC14L1_ENST00000591437.1_Missense_Mutation_p.L217F|SEC14L1_ENST00000431431.2_Missense_Mutation_p.L217F|SEC14L1_ENST00000585618.1_Missense_Mutation_p.L251F|SEC14L1_ENST00000392476.2_Missense_Mutation_p.L251F|SEC14L1_ENST00000430767.4_Missense_Mutation_p.L251F|SEC14L1_ENST00000436233.4_Missense_Mutation_p.L251F	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	251					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGGGCGATTTGACTCCGCTGC	0.512000													4	55					0.0215528	0.0230156	0.217242	1	0
PRMT8	56341	broad.mit.edu	37	12	3662861	3662861	+	Silent	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr12:3662861G>A	ENST00000382622.3	+	4	852	c.462G>A	c.(460-462)aaG>aaA	p.K154K	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Silent_p.K145K	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	154					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			AGATCATTAAGGCCAACCACT	0.478000													16	81					0	0	0.146539	0	0
CDON	50937	broad.mit.edu	37	11	125887047	125887047	+	Silent	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr11:125887047A>G	ENST00000392693.3	-	6	991	c.864T>C	c.(862-864)taT>taC	p.Y288Y	CDON_ENST00000263577.7_Silent_p.Y288Y	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	288	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCATGCAGGAATAGTTTCCGG	0.438000													4	33					0	0	0.184627	0	0
ZNF451	26036	broad.mit.edu	37	6	57013339	57013339	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr6:57013339G>T	ENST00000370706.4	+	10	2700	c.2456G>T	c.(2455-2457)aGt>aTt	p.S819I	RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.S819I|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.S819I|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAGAAACCCAGTGTGGCTCAT	0.398000													8	46					0.000274275	0.000325271	0.047766	1	0
RIMS2	9699	broad.mit.edu	37	8	105026764	105026764	+	Silent	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr8:105026764A>T	ENST00000507740.1	+	17	2933	c.2697A>T	c.(2695-2697)acA>acT	p.T899T	RIMS2_ENST00000262231.10_Silent_p.T924T|RIMS2_ENST00000406091.3_Silent_p.T1085T|RIMS2_ENST00000436393.2_Silent_p.T825T	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1147	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)			CTGTCCAGACAAGCCCATCAA	0.413000										HNSCC(12;0.0054)			6	47					0	0	0.248553	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615613	140615613	+	RNA	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:140615613C>A	ENST00000526308.1	+	0	1676					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CCCCAGGACCCGCACCTGCCC	0.642000													18	235					9.16793e-09	1.40496e-08	0.160694	1	0
PCK1	5105	broad.mit.edu	37	20	56139639	56139639	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr20:56139639G>A	ENST00000319441.4	+	8	1452	c.1288G>A	c.(1288-1290)Ggc>Agc	p.G430S	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Missense_Mutation_p.G113S	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	430					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCCCATTGAAGGCATTATCTT	0.567000													25	96					0	0	0.264190	0	0
TTN	7273	broad.mit.edu	37	2	179595833	179595833	+	Silent	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:179595833T>A	ENST00000589042.1	-	60	17783	c.17559A>T	c.(17557-17559)acA>acT	p.T5853T	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.T4609T|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.T5536T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5536	Ig-like 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCATTTGGCTGTAATCTCCT	0.418000													8	108					0	0	0.047766	0	0
RGPD4	285190	broad.mit.edu	37	2	108475895	108475895	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:108475895C>T	ENST00000408999.3	+	11	1596	c.1519C>T	c.(1519-1521)Cac>Tac	p.H507Y	RGPD4_ENST00000354986.4_Missense_Mutation_p.H507Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	507					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATGTAATTCTCACCACAGCTC	0.368000													14	164					0	0	0.132662	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627630	43627630	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr9:43627630G>T	ENST00000332857.6	-	4	1085	c.1057C>A	c.(1057-1059)Caa>Aaa	p.Q353K		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GGGGTCATTTGATTTGTAAAT	0.433000													81	220					8.6838e-40	1.60108e-39	0.139131	1	0
GRIN3A	116443	broad.mit.edu	37	9	104433100	104433100	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr9:104433100C>A	ENST00000361820.3	-	3	2194	c.1594G>T	c.(1594-1596)Gat>Tat	p.D532Y		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	532					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCTTCATCATCTACCTCCCTT	0.488000													26	63					1.55469e-16	2.75871e-16	0.279207	1	0
NPSR1	387129	broad.mit.edu	37	7	34851388	34851388	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr7:34851388C>A	ENST00000360581.1	+	4	519	c.391C>A	c.(391-393)Ctg>Atg	p.L131M	NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000381539.3_Missense_Mutation_p.L131M|NPSR1_ENST00000359791.1_Missense_Mutation_p.L131M|NPSR1_ENST00000531252.1_Missense_Mutation_p.L120M	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	131						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TTAGGTTGTGCTGCTCTACGC	0.468000													12	81					7.03913e-09	1.08577e-08	0.093190	1	0
ZNF804B	219578	broad.mit.edu	37	7	88964765	88964765	+	Silent	SNP	G	G	A	rs148990105		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr7:88964765G>A	ENST00000333190.4	+	4	3078	c.2469G>A	c.(2467-2469)acG>acA	p.T823T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	823						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAAATCTACGAGAATCATCT	0.363000										HNSCC(36;0.09)			4	57					0	0	0.184627	0	0
IFNA6	3443	broad.mit.edu	37	9	21350855	21350855	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr9:21350855A>G	ENST00000380210.1	-	1	522	c.32T>C	c.(31-33)cTg>cCg	p.L11P		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	11					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GAGCACCACCAGGGCCATCAG	0.522000													12	84					0	0	0.105934	0	0
GUCY2D	3000	broad.mit.edu	37	17	7915566	7915566	+	Silent	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr17:7915566C>T	ENST00000254854.4	+	9	2004	c.1854C>T	c.(1852-1854)gtC>gtT	p.V618V		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	618	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TGGCTGTGGTCTCAGAGCACT	0.612000													12	37					0	0	0.105934	0	0
SLC5A8	160728	broad.mit.edu	37	12	101573839	101573839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr12:101573839C>A	ENST00000536262.2	-	10	1759	c.1201G>T	c.(1201-1203)Gcg>Tcg	p.A401S		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	401					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GACGCCAGCGCAGCCATTCCA	0.428000													10	118					0.000151284	0.00018499	0.105934	1	0
CASP3	836	broad.mit.edu	37	4	185550429	185550429	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr4:185550429G>C	ENST00000308394.4	-	8	1093	c.831C>G	c.(829-831)caC>caG	p.H277Q	CASP3_ENST00000523916.1_Missense_Mutation_p.H277Q|CASP3_ENST00000393585.2_3'UTR|CASP3_ENST00000517513.1_3'UTR	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	277					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	CATTTCTTTAGTGATAAAAAT	0.348000													8	134					0	0	0.047766	0	0
CLVS2	134829	broad.mit.edu	37	6	123377007	123377007	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr6:123377007C>G	ENST00000275162.4	+	5	2067	c.732C>G	c.(730-732)atC>atG	p.I244M	CLVS2_ENST00000368438.1_Missense_Mutation_p.I98M	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	244	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ATCCTGAGATCCTGCCCTCTG	0.453000													5	79					0	0	0.217242	0	0
MPP2	4355	broad.mit.edu	37	17	41955346	41955346	+	Silent	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr17:41955346C>T	ENST00000269095.4	-	13	1792	c.1488G>A	c.(1486-1488)gcG>gcA	p.A496A	MPP2_ENST00000377184.3_Silent_p.A513A|MPP2_ENST00000461854.1_Silent_p.A520A|MPP2_ENST00000520305.1_Silent_p.A357A|MPP2_ENST00000523501.1_Silent_p.A485A|MPP2_ENST00000518766.1_Silent_p.A541A|MPP2_ENST00000536246.1_Silent_p.A485A	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	520	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GTCTCAGGTCCGCCTCCTGCC	0.632000													5	49					0	0	0.184627	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947368	57947368	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr11:57947368C>A	ENST00000335397.3	+	3	768	c.452C>A	c.(451-453)gCt>gAt	p.A151D		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GCTTACGTTGCTGGTCTCATC	0.547000													8	55					5.4927e-09	8.52814e-09	0.047766	1	0
NQO1	1728	broad.mit.edu	37	16	69744882	69744882	+	Silent	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr16:69744882T>C	ENST00000320623.5	-	6	1333	c.822A>G	c.(820-822)aaA>aaG	p.K274K	NQO1_ENST00000439109.2_Silent_p.K202K|NQO1_ENST00000561500.1_Intron|NQO1_ENST00000379046.2_Silent_p.K236K|NQO1_ENST00000379047.3_Silent_p.K240K|NQO1_ENST00000564043.1_Silent_p.K253K	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	274					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	AGGAATCTCATTTTCTAGCTT	0.408000													25	67					0	0	0.134883	0	0
ROS1	6098	broad.mit.edu	37	6	117665282	117665282	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr6:117665282C>A	ENST00000368508.3	-	27	4663	c.4465G>T	c.(4465-4467)Gtt>Ttt	p.V1489F	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V1483F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1489	Fibronectin type-III 6.				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)		GCATAATAAACCAGGTATGTT	0.398000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								4	56					1.024e-07	1.5104e-07	0.184627	1	0
TUBB4A	10382	broad.mit.edu	37	19	6495936	6495936	+	Silent	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr19:6495936G>A	ENST00000264071.2	-	4	945	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L	TUBB4A_ENST00000540257.1_Silent_p.L192L			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	192					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										TTCTCCACCAGCTGGTGCACA	0.592000													33	128					0	0	0.193644	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502701	140502701	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:140502701C>A	ENST00000194152.1	+	1	1121	c.1121C>A	c.(1120-1122)tCc>tAc	p.S374Y		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		374	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATAGAGATTCCGGAGAAAAT	0.408000													17	121					1.5739e-10	2.54411e-10	0.146539	1	0
PRKACA	5566	broad.mit.edu	37	19	14208272	14208272	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr19:14208272C>A	ENST00000308677.4	-	8	862	c.666G>T	c.(664-666)tgG>tgT	p.W222C	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.W214C|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	222	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CCAGGGCCCACCAGTCCACGG	0.622000													12	36					3.07112e-06	4.00433e-06	0.080935	1	0
AK7	122481	broad.mit.edu	37	14	96916184	96916184	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr14:96916184A>T	ENST00000267584.4	+	9	960	c.916A>T	c.(916-918)Aga>Tga	p.R306*		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	306					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GAAAATACCCAGAGAAAATGC	0.313000													4	33					0	0	0.184627	0	0
SERPINB10	5273	broad.mit.edu	37	18	61602436	61602436	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr18:61602436C>A	ENST00000238508.3	+	8	1213	c.1154C>A	c.(1153-1155)aCc>aAc	p.T385N	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CACAATAAAACCAACACCATT	0.398000													6	118					0.0215528	0.0230156	0.217242	1	0
TRBV7-8	28590	broad.mit.edu	37	7	142099492	142099492	+	RNA	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr7:142099492C>A	ENST00000390359.3	-	0	348																											GCGGAGTCCTCCTGCTGTGTG	0.552000													4	66					0.0215528	0.0230156	0.217242	1	0
ZNF43	7594	broad.mit.edu	37	19	21991183	21991183	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr19:21991183G>T	ENST00000594012.1	-	7	2152	c.1638C>A	c.(1636-1638)atC>atA	p.I546I	ZNF43_ENST00000598381.1_Silent_p.I546I|ZNF43_ENST00000354959.4_Silent_p.I552I|ZNF43_ENST00000595461.1_Silent_p.I546I	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GTTTGGTAAGGATTGAGAAAT	0.378000													11	43					2.80697e-09	4.41631e-09	0.080935	1	0
FSHR	2492	broad.mit.edu	37	2	49190356	49190356	+	Missense_Mutation	SNP	A	A	T	rs145815060		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:49190356A>T	ENST00000406846.2	-	10	1723	c.1604T>A	c.(1603-1605)cTt>cAt	p.L535H	FSHR_ENST00000304421.4_Missense_Mutation_p.L509H|FSHR_ENST00000346173.3_Missense_Mutation_p.L473H|FSHR_ENST00000541117.1_Missense_Mutation_p.L271H	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	535					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ATTGAGCACAAGGAGGGACAT	0.517000									Gonadal Dysgenesis, 46 XX				3	29					0	0	0.115264	0	0
CDC123	8872	broad.mit.edu	37	10	12292308	12292308	+	Splice_Site	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr10:12292308A>G	ENST00000281141.4	+	13	1264		c.e13-1		CDC123_ENST00000378900.2_Splice_Site	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123						cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						TTTCTTTGACAGAAGAGAAAT	0.502000													10	39					0	0	0.093190	0	0
SATB2	23314	broad.mit.edu	37	2	200213728	200213728	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:200213728T>A	ENST00000443023.1	-	6	2157	c.692A>T	c.(691-693)cAg>cTg	p.Q231L	SATB2_ENST00000428695.1_Missense_Mutation_p.Q172L|SATB2_ENST00000417098.1_Missense_Mutation_p.Q290L|SATB2_ENST00000457245.1_Missense_Mutation_p.Q290L|SATB2_ENST00000260926.5_Missense_Mutation_p.Q290L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	290						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATGATGGGCTGTAATGCGGG	0.493000													8	78					0	0	0.278610	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576398	158576398	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:158576398delC	ENST00000361284.1	+	1	170	c.170delC	c.(169-171)acfs	p.T57fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CATCTGCACACCCCCATGTAC	0.517													17	343	---	---	---	---					
LY9	4063	broad.mit.edu	37	1	160793397	160793398	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:160793397_160793398insA	ENST00000263285.5	+	8	1671_1672	c.1641_1642insA	c.(1639-1644)gaacagfs	p.Q548fs	LY9_ENST00000368041.2_Frame_Shift_Ins_p.Q418fs|LY9_ENST00000368040.1_Frame_Shift_Ins_p.Q186fs|LY9_ENST00000341032.4_Intron|LY9_ENST00000368035.1_Frame_Shift_Ins_p.Q186fs	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	548					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGAGGATGAGGACAGGCCTGA	0.584													9	98	---	---	---	---					
NLRP3	114548	broad.mit.edu	37	1	247588812	247588812	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:247588812delG	ENST00000366497.2	+	4	2847	c.2067delG	c.(2065-2067)aafs	p.K689fs	NLRP3_ENST00000336119.3_Frame_Shift_Del_p.K689fs|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Frame_Shift_Del_p.K689fs|NLRP3_ENST00000366496.2_Frame_Shift_Del_p.K689fs|NLRP3_ENST00000348069.2_Frame_Shift_Del_p.K689fs|NLRP3_ENST00000391828.3_Frame_Shift_Del_p.K689fs	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	689					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACATGCCCAAGGAGGAAGAGG	0.512													7	59	---	---	---	---					
ZNF142	7701	broad.mit.edu	37	2	219508459	219508459	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:219508459delG	ENST00000411696.2	-	7	3559	c.2780delC	c.(2779-2781)cafs	p.P928fs	ZNF142_ENST00000449707.1_Frame_Shift_Del_p.P928fs			P52746	ZN142_HUMAN	zinc finger protein 142	928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGATGCAGGTGGGGGCTTCCC	0.547													31	185	---	---	---	---					
SPEG	10290	broad.mit.edu	37	2	220313626	220313626	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:220313626delG	ENST00000312358.7	+	4	1878	c.1746delG	c.(1744-1746)ccfs	p.P582fs	SPEG_ENST00000396698.1_Frame_Shift_Del_p.P478fs|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	582	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGACAGAGCCGGGGGAAGGCC	0.771													2	4	---	---	---	---					
FAM71B	153745	broad.mit.edu	37	5	156589877	156589877	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:156589877delG	ENST00000302938.4	-	2	1494	c.1399delC	c.(1399-1401)acfs	p.H467fs		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	467						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGGACCGGTGGGAAGACGCT	0.517													14	167	---	---	---	---					
TMEM67	91147	broad.mit.edu	37	8	94821088	94821088	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr8:94821088delA	ENST00000453321.3	+	24	2518	c.2460delA	c.(2458-2460)agfs	p.R820fs	TMEM67_ENST00000409623.3_Frame_Shift_Del_p.R739fs	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	820			R -> S (in COACHS).		cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GTAGCCAGAGAGGTTTGGTAC	0.313													14	79	---	---	---	---					
SQLE	6713	broad.mit.edu	37	8	126011893	126011893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr8:126011893delC	ENST00000265896.5	+	1	1146	c.248delC	c.(247-249)tcfs	p.S83fs	SQLE_ENST00000523430.1_Intron	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	83					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TGGGCCAAATCCCCCCCTGAA	0.547													7	36	---	---	---	---					
SUSD1	64420	broad.mit.edu	37	9	114842405	114842405	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:114842405delG	ENST00000374270.3	-	11	1687	c.1515delC	c.(1513-1515)acfs	p.T505fs	SUSD1_ENST00000374263.3_Frame_Shift_Del_p.T505fs|SUSD1_ENST00000374264.2_Frame_Shift_Del_p.T505fs	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	505						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ATCTCAAGCAGGTTTCATTAA	0.338													7	83	---	---	---	---					
RP11-170M17.1	0	broad.mit.edu	37	10	65750081	65750081	+	RNA	DEL	A	A	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr10:65750081delA	ENST00000444770.1	+	0	547																											ctcagtattcaagagtcaccc	0.483													2	4	---	---	---	---					
CNOT1	23019	broad.mit.edu	37	16	58620484	58620503	+	Frame_Shift_Del	DEL	TCTTGTCCAACTCCAAAGGC	TCTTGTCCAACTCCAAAGGC	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr16:58620484_58620503delTCTTGTCCAACTCCAAAGGC	ENST00000317147.5	-	7	915_934	c.583_602delGCCTTTGGAGTTGGACAAGA	c.(583-603)afs	p.AFGVGQE195fs	CNOT1_ENST00000441024.2_Frame_Shift_Del_p.AFGVGQE195fs|CNOT1_ENST00000569240.1_Frame_Shift_Del_p.AFGVGQE195fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	195					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.Q200H(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTCTATCTGTTCTTGTCCAACTCCAAAGGCTCCCTTCTGC	0.491													42	297	---	---	---	---					
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:36583666_36583668delGCA	ENST00000401500.2	+	19	2321_2323	c.2286_2288delGCA	c.(2284-2289)cgg>cg	p.RQ762del	WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	762					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616													7	130	---	---	---	---					
MEI1	150365	broad.mit.edu	37	22	42110055	42110055	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr22:42110055delC	ENST00000401548.3	+	4	439	c.399delC	c.(397-399)tgfs	p.C133fs	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	133							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTATCCGTTGCCTGCTGGATG	0.483													2	4	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158576398	158576398	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:158576398delC	ENST00000361284.1	+	1	170	c.170delC	c.(169-171)acfs	p.T57fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CATCTGCACACCCCCATGTAC	0.517													17	343	---	---	---	---					
LY9	4063	broad.mit.edu	37	1	160793397	160793398	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:160793397_160793398insA	ENST00000263285.5	+	8	1671_1672	c.1641_1642insA	c.(1639-1644)gaacagfs	p.Q548fs	LY9_ENST00000368040.1_Frame_Shift_Ins_p.Q186fs|LY9_ENST00000368041.2_Frame_Shift_Ins_p.Q418fs|LY9_ENST00000341032.4_Intron|LY9_ENST00000368035.1_Frame_Shift_Ins_p.Q186fs	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	548					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGAGGATGAGGACAGGCCTGA	0.584													9	98	---	---	---	---					
NLRP3	114548	broad.mit.edu	37	1	247588812	247588812	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr1:247588812delG	ENST00000366497.2	+	4	2847	c.2067delG	c.(2065-2067)aafs	p.K689fs	NLRP3_ENST00000348069.2_Frame_Shift_Del_p.K689fs|NLRP3_ENST00000336119.3_Frame_Shift_Del_p.K689fs|NLRP3_ENST00000391827.2_Frame_Shift_Del_p.K689fs|NLRP3_ENST00000391828.3_Frame_Shift_Del_p.K689fs|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Frame_Shift_Del_p.K689fs	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	689					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACATGCCCAAGGAGGAAGAGG	0.512													7	59	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	-	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:97808574_97808575insA	ENST00000420699.2	+	8	1145		c.e8+2		ANKRD36_ENST00000461153.2_Splice_Site	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36									p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366													3	4	---	---	---	---					
ZNF142	7701	broad.mit.edu	37	2	219508459	219508459	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr2:219508459delG	ENST00000411696.2	-	7	3559	c.2780delC	c.(2779-2781)cafs	p.P928fs	ZNF142_ENST00000449707.1_Frame_Shift_Del_p.P928fs			P52746	ZN142_HUMAN	zinc finger protein 142	928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGATGCAGGTGGGGGCTTCCC	0.547													31	185	---	---	---	---					
FAM71B	153745	broad.mit.edu	37	5	156589877	156589877	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr5:156589877delG	ENST00000302938.4	-	2	1494	c.1399delC	c.(1399-1401)acfs	p.H467fs		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	467						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGGACCGGTGGGAAGACGCT	0.517													14	167	---	---	---	---					
TMEM67	91147	broad.mit.edu	37	8	94821088	94821088	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr8:94821088delA	ENST00000453321.3	+	24	2518	c.2460delA	c.(2458-2460)agfs	p.R820fs	TMEM67_ENST00000409623.3_Frame_Shift_Del_p.R739fs	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	820			R -> S (in COACHS).		cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GTAGCCAGAGAGGTTTGGTAC	0.313													14	79	---	---	---	---					
SQLE	6713	broad.mit.edu	37	8	126011893	126011893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr8:126011893delC	ENST00000265896.5	+	1	1146	c.248delC	c.(247-249)tcfs	p.S83fs	SQLE_ENST00000523430.1_Intron	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	83					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TGGGCCAAATCCCCCCCTGAA	0.547													7	36	---	---	---	---					
SUSD1	64420	broad.mit.edu	37	9	114842405	114842405	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr9:114842405delG	ENST00000374270.3	-	11	1687	c.1515delC	c.(1513-1515)acfs	p.T505fs	SUSD1_ENST00000374264.2_Frame_Shift_Del_p.T505fs|SUSD1_ENST00000374263.3_Frame_Shift_Del_p.T505fs	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	505						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ATCTCAAGCAGGTTTCATTAA	0.338													7	83	---	---	---	---					
RP11-170M17.1	0	broad.mit.edu	37	10	65750081	65750081	+	RNA	DEL	A	A	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr10:65750081delA	ENST00000444770.1	+	0	547																											ctcagtattcaagagtcaccc	0.483													2	4	---	---	---	---					
CNOT1	23019	broad.mit.edu	37	16	58620484	58620503	+	Frame_Shift_Del	DEL	TCTTGTCCAACTCCAAAGGC	TCTTGTCCAACTCCAAAGGC	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr16:58620484_58620503delTCTTGTCCAACTCCAAAGGC	ENST00000317147.5	-	7	915_934	c.583_602delGCCTTTGGAGTTGGACAAGA	c.(583-603)afs	p.AFGVGQE195fs	CNOT1_ENST00000441024.2_Frame_Shift_Del_p.AFGVGQE195fs|CNOT1_ENST00000569240.1_Frame_Shift_Del_p.AFGVGQE195fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	195					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.Q200H(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTCTATCTGTTCTTGTCCAACTCCAAAGGCTCCCTTCTGC	0.491													42	297	---	---	---	---					
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr19:36583666_36583668delGCA	ENST00000401500.2	+	19	2321_2323	c.2286_2288delGCA	c.(2284-2289)cgg>cg	p.RQ762del	WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	762					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616													7	130	---	---	---	---					
MEI1	150365	broad.mit.edu	37	22	42110055	42110055	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9982bd67-c7eb-4c68-b9c4-2907ef244790	22e57574-a7e2-4a1c-b5a8-f77f7ecf3e65	g.chr22:42110055delC	ENST00000401548.3	+	4	439	c.399delC	c.(397-399)tgfs	p.C133fs	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	133							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTATCCGTTGCCTGCTGGATG	0.483													2	4	---	---	---	---