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
PUS1	80324	broad.mit.edu	37	12	132426187	132426187	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:132426187G>A	ENST00000542167.2	+	4	1489	c.736G>A	c.(736-738)Ggc>Agc	p.G246S	PUS1_ENST00000376649.3_Missense_Mutation_p.G299S|PUS1_ENST00000440818.2_Missense_Mutation_p.G271S|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000443358.2_Missense_Mutation_p.G271S			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	299						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		GAAGATGGTCGGCCTGGTGGT	0.622000													18	74					0	0	0.008871	0	0
STS	412	broad.mit.edu	37	X	7223214	7223214	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:7223214G>A	ENST00000217961.4	+	7	1306	c.1086G>A	c.(1084-1086)ggG>ggA	p.G362G		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	362					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	GAAGTAATGGGATCTATAAAG	0.448000									Ichthyosis				12	207					0	0	0.013537	0	0
SLC24A4	123041	broad.mit.edu	37	14	92908474	92908474	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:92908474G>T	ENST00000532405.1	+	5	661	c.435G>T	c.(433-435)atG>atT	p.M145I	SLC24A4_ENST00000298877.1_Missense_Mutation_p.M128I|SLC24A4_ENST00000531433.1_Missense_Mutation_p.M145I|SLC24A4_ENST00000393265.2_Missense_Mutation_p.M81I|SLC24A4_ENST00000351924.5_Missense_Mutation_p.M128I			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	145						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCACCTTCATGGCTGCAGGAA	0.547000													5	72					0.00116845	0.00125644	0.021553	1	0
ITIH1	3697	broad.mit.edu	37	3	52811656	52811656	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:52811656G>A	ENST00000273283.2	+	1	49	c.25G>A	c.(25-27)Ggg>Agg	p.G9R	ITIH1_ENST00000542827.1_Missense_Mutation_p.G9R	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	9					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GGGGCCTCGGGGGCTGCTGTT	0.567000													14	75					0	0	0.024245	0	0
MBD6	114785	broad.mit.edu	37	12	57919610	57919610	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:57919610C>G	ENST00000355673.3	+	6	1215	c.859C>G	c.(859-861)Cag>Gag	p.Q287E	MBD6_ENST00000431731.2_Missense_Mutation_p.Q287E	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	287	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCCTGCCTCTCAGCCACCAGT	0.667000													6	48					0	0	0.001984	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6086622	6086622	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:6086622C>T	ENST00000409021.3	-	5	1354	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R137Q|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R302Q|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R137Q|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R302Q|JAKMIP1_ENST00000457227.2_5'UTR	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	302	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCCAGCTTCCGTATCACTGA	0.423000													47	576					0	0	0.014410	0	0
IGSF9	57549	broad.mit.edu	37	1	159904086	159904086	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:159904086G>A	ENST00000368094.1	-	9	1195	c.998C>T	c.(997-999)cCc>cTc	p.P333L	IGSF9_ENST00000361509.3_Intron	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	333	Ig-like 4.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TATGGGCAGGGGTGTCTCAGG	0.652000													3	33					0	0	0.004672	0	0
COL5A2	1290	broad.mit.edu	37	2	189922115	189922115	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:189922115G>T	ENST00000374866.3	-	34	2542	c.2268C>A	c.(2266-2268)ggC>ggA	p.G756G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	756					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GACCTGGTGGGCCTGTATCTC	0.423000													16	147					4.72057e-08	5.88214e-08	0.021523	1	0
SOAT1	6646	broad.mit.edu	37	1	179304777	179304777	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:179304777A>G	ENST00000367619.3	+	4	457	c.314A>G	c.(313-315)aAc>aGc	p.N105S	SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Missense_Mutation_p.N40S|SOAT1_ENST00000540564.1_Missense_Mutation_p.N47S	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	105					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GGAGAGAAAAACAACCATAGA	0.378000													10	161					0	0	0.006214	0	0
NLRP2	55655	broad.mit.edu	37	19	55508738	55508738	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:55508738T>A	ENST00000543010.1	+	12	3076	c.2933T>A	c.(2932-2934)cTc>cAc	p.L978H	NLRP2_ENST00000391721.4_Missense_Mutation_p.L954H|NLRP2_ENST00000538819.1_Missense_Mutation_p.L954H|NLRP2_ENST00000448584.2_Missense_Mutation_p.L978H|NLRP2_ENST00000427260.2_Missense_Mutation_p.L955H|NLRP2_ENST00000537859.1_Missense_Mutation_p.L956H|NLRP2_ENST00000263437.6_Missense_Mutation_p.L975H|NLRP2_ENST00000339757.7_Missense_Mutation_p.L956H	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	978					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGCTCTGCCCTCAGCTGCAAC	0.532000													38	154					0	0	0.007835	0	0
SYN3	8224	broad.mit.edu	37	22	33402347	33402347	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr22:33402347G>T	ENST00000358763.2	-	2	543	c.301C>A	c.(301-303)Cat>Aat	p.H101N	SYN3_ENST00000332840.5_Missense_Mutation_p.H101N	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	101	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CAGTCTGTATGGGCATCATCG	0.547000													35	212					2.2871e-25	3.30907e-25	0.007835	1	0
KCNK13	56659	broad.mit.edu	37	14	90651009	90651009	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:90651009G>T	ENST00000282146.4	+	2	1330	c.889G>T	c.(889-891)Ggg>Tgg	p.G297W		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	297						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				AATGGACAGCGGGTGCTGCCC	0.532000													14	90					1.5842e-08	2.0085e-08	0.016723	1	0
OLFM3	118427	broad.mit.edu	37	1	102269892	102269892	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:102269892T>A	ENST00000370103.4	-	6	1492	c.1279A>T	c.(1279-1281)Aat>Tat	p.N427Y	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.N447Y|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	447	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TCTCTTGCATTGTAGTCAAGC	0.438000													40	537					0	0	0.009718	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167549	27167549	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:27167549G>C	ENST00000288699.6	+	12	1624	c.1466G>C	c.(1465-1467)cGc>cCc	p.R489P	DPYSL5_ENST00000401478.1_Missense_Mutation_p.R489P	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	489					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGTGGACCGCACTCCCTAC	0.557000													57	169					0	0	0.014410	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19856891	19856891	+	RNA	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:19856891C>A	ENST00000548109.1	+	0	72																											GTTTAATTAGCCCAACTTCTG	0.368000													4	39					9.31168e-06	1.08284e-05	0.016723	1	0
MDGA2	161357	broad.mit.edu	37	14	47343335	47343335	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:47343335C>A	ENST00000426342.1	-	13	2358	c.1612G>T	c.(1612-1614)Gac>Tac	p.D538Y	MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000399232.2_Missense_Mutation_p.D836Y|MDGA2_ENST00000357362.3_Missense_Mutation_p.D538Y|MDGA2_ENST00000439988.2_Missense_Mutation_p.D767Y	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	767					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTGTCCAGTCAAAATTATCT	0.328000													8	105					2.17888e-05	2.49711e-05	0.006214	1	0
SHFM1	7979	broad.mit.edu	37	7	96318259	96318259	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:96318259C>T	ENST00000248566.2	-	3	317	c.190G>A	c.(190-192)Ggt>Agt	p.G64S	SHFM1_ENST00000444799.1_Intron|SHFM1_ENST00000413065.1_Intron|SHFM1_ENST00000417009.1_Intron	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	64					proteolysis	proteasome complex	peptidase activity|protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					ATCTTATAACCATGTTTCTCT	0.333000								Homologous recombination					50	204					0	0	0.014410	0	0
OR2T1	26696	broad.mit.edu	37	1	248569766	248569766	+	Silent	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:248569766T>A	ENST00000366474.1	+	1	471	c.471T>A	c.(469-471)ctT>ctA	p.L157L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			ACCTTACCCTTGTGGGAGCTG	0.517000													38	150					0	0	0.027894	0	0
ATP4A	495	broad.mit.edu	37	19	36054344	36054344	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:36054344C>A	ENST00000262623.3	-	2	126	c.98G>T	c.(97-99)gGt>gTt	p.G33V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	33					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	ACCCCCGCCACCCGCCTTCTT	0.602000													11	496					2.31682e-05	2.65171e-05	0.024245	1	0
OR1E1	8387	broad.mit.edu	37	17	3301516	3301516	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:3301516G>T	ENST00000322608.2	-	1	188	c.189C>A	c.(187-189)ctC>ctA	p.L63L		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						ACAAGTTGCTGAGAAACAAAT	0.502000													12	227					5.50884e-06	6.4319e-06	0.013537	1	0
OR56A4	120793	broad.mit.edu	37	11	6024219	6024219	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:6024219C>T	ENST00000330728.4	-	1	205	c.160G>A	c.(160-162)Gca>Aca	p.A54T		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGAGATGCCATGTAAAGT	0.473000													5	240					0	0	0.001984	0	0
FBXO45	200933	broad.mit.edu	37	3	196311060	196311060	+	Silent	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:196311060A>G	ENST00000311630.6	+	3	1029	c.732A>G	c.(730-732)gaA>gaG	p.E244E	FBXO45_ENST00000440469.1_Silent_p.E65E	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	244	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TAGCTTTTGAACGTGGATATG	0.418000													9	73					0	0	0.008291	0	0
FNDC7	163479	broad.mit.edu	37	1	109270445	109270445	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:109270445G>C	ENST00000370017.3	+	7	1404	c.1127G>C	c.(1126-1128)aGt>aCt	p.S376T	FNDC7_ENST00000271311.2_Missense_Mutation_p.S377T	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	377	Fibronectin type-III 5.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TGTTGTCCTAGTGACATTAAC	0.542000													29	347					0	0	0.015359	0	0
NRXN1	9378	broad.mit.edu	37	2	50765550	50765550	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:50765550C>A	ENST00000404971.1	-	11	3443	c.2104G>T	c.(2104-2106)Gtt>Ttt	p.V702F	NRXN1_ENST00000406859.3_Missense_Mutation_p.V662F|NRXN1_ENST00000401669.2_Missense_Mutation_p.V662F|NRXN1_ENST00000406316.2_Missense_Mutation_p.V662F|NRXN1_ENST00000405472.3_Missense_Mutation_p.V654F|NRXN1_ENST00000402717.3_Missense_Mutation_p.V654F|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	662	EGF-like 2.				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)			GTACTTTGAACTTCAGCCATT	0.507000													205	611					5.35632e-87	7.92081e-87	0.014410	1	0
CSMD3	114788	broad.mit.edu	37	8	113599413	113599413	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:113599413T>A	ENST00000297405.5	-	23	4011	c.3767A>T	c.(3766-3768)aAt>aTt	p.N1256I	CSMD3_ENST00000352409.3_Missense_Mutation_p.N1256I|CSMD3_ENST00000343508.3_Missense_Mutation_p.N1216I|CSMD3_ENST00000455883.2_Missense_Mutation_p.N1152I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1256	CUB 7.					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						GAGTGGATAATTTGGAGACAG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	188					0	0	0.020292	0	0
SCNN1G	6340	broad.mit.edu	37	16	23197816	23197816	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:23197816T>A	ENST00000300061.2	+	2	367	c.224T>A	c.(223-225)gTc>gAc	p.V75D		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	75					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCCCTCCTCGTCTTCTCCTTC	0.582000													4	108					0	0	0.009096	0	0
COL19A1	1310	broad.mit.edu	37	6	70639393	70639393	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:70639393A>T	ENST00000322773.4	+	6	569	c.467A>T	c.(466-468)tAc>tTc	p.Y156F		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	156	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			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						GTGTTGAACTACATTTTTAGA	0.368000													29	235					0	0	0.015359	0	0
CD68	968	broad.mit.edu	37	17	7484735	7484735	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:7484735T>C	ENST00000250092.6	+	6	1182	c.971T>C	c.(970-972)cTc>cCc	p.L324P	CD68_ENST00000380498.6_Missense_Mutation_p.L297P	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	324						endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						TTGCTGCCTCTCATCATCGGC	0.577000													3	119					0	0	0.009096	0	0
OR52B4	143496	broad.mit.edu	37	11	4388801	4388801	+	Missense_Mutation	SNP	G	G	A	rs139777859	by1000genomes	TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:4388801G>A	ENST00000408920.2	-	1	815	c.725C>T	c.(724-726)aCa>aTa	p.T242I		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAGCCAAATGTGTTGAGAGC	0.448000													26	256					0	0	0.006320	0	0
DUOXA1	90527	broad.mit.edu	37	15	45412317	45412317	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:45412317C>A	ENST00000558996.1	-	5	675	c.621G>T	c.(619-621)tgG>tgT	p.W207C	DUOXA1_ENST00000560572.1_Missense_Mutation_p.W252C|DUOXA1_ENST00000430224.2_Missense_Mutation_p.W207C|DUOXA1_ENST00000267803.4_Missense_Mutation_p.W252C|DUOXA1_ENST00000558422.1_Missense_Mutation_p.W207C|DUOXA1_ENST00000559014.1_Missense_Mutation_p.W252C	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	252					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		TCAATGTGATCCAGAAGGCAG	0.577000													37	213					8.69298e-16	1.19804e-15	0.027894	1	0
TRAK1	22906	broad.mit.edu	37	3	42260986	42260986	+	Splice_Site	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:42260986C>T	ENST00000327628.5	+	15	2364	c.1963_splice	c.e15-1	p.A655_splice	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Splice_Site_p.A597_splice	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	655					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCCAATTTAGCGCACCATCCT	0.468000													6	360					0	0	0.003080	0	0
BTBD11	121551	broad.mit.edu	37	12	107914306	107914306	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:107914306C>A	ENST00000280758.5	+	2	1706	c.1178C>A	c.(1177-1179)cCa>cAa	p.P393Q	BTBD11_ENST00000490090.2_Missense_Mutation_p.P393Q|BTBD11_ENST00000420571.2_Missense_Mutation_p.P393Q	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	393						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CACAGAGACCCACAGCGGTCA	0.537000													35	193					2.48696e-23	3.55105e-23	0.015359	1	0
POPDC2	64091	broad.mit.edu	37	3	119373360	119373360	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:119373360C>A	ENST00000493094.1	-	2	1051	c.592G>T	c.(592-594)Gtg>Ttg	p.V198L	POPDC2_ENST00000538678.1_Missense_Mutation_p.V198L|POPDC2_ENST00000468801.1_Missense_Mutation_p.V198L|POPDC2_ENST00000264231.3_Missense_Mutation_p.V198L|POPDC2_ENST00000474523.1_5'UTR			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	198						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		ACCTGGAACACCCCCTCCTCA	0.557000													21	183					6.44725e-10	8.35648e-10	0.014323	1	0
SLTM	79811	broad.mit.edu	37	15	59205864	59205864	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:59205864T>A	ENST00000380516.2	-	4	434	c.347A>T	c.(346-348)gAg>gTg	p.E116V	SLTM_ENST00000557950.1_5'UTR|SLTM_ENST00000536328.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	116	Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCATCTTGCTCATGTGCCTC	0.383000													5	181					0	0	0.003080	0	0
TBX3	6926	broad.mit.edu	37	12	115120698	115120698	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:115120698G>T	ENST00000349155.2	-	1	1271	c.308C>A	c.(307-309)cCc>cAc	p.P103H	TBX3_ENST00000257566.3_Missense_Mutation_p.P103H	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	103					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GTGCACCTTGGGGTCGTCCTC	0.622000													15	84					5.3912e-06	6.30301e-06	0.006122	1	0
PDZD2	23037	broad.mit.edu	37	5	32010436	32010436	+	Splice_Site	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:32010436G>A	ENST00000438447.1	+	6	1643	c.1254_splice	c.e6-1	p.E419_splice	PDZD2_ENST00000282493.3_Splice_Site_p.E419_splice			O15018	PDZD2_HUMAN	PDZ domain containing 2	419	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCCCCATAGGAAAACTCCGC	0.498000													12	556					0	0	0.020292	0	0
OR8I2	120586	broad.mit.edu	37	11	55861056	55861056	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:55861056C>A	ENST00000302124.2	+	1	304	c.273C>A	c.(271-273)tcC>tcA	p.S91S	OR8I2_ENST00000560768.1_Silent_p.S91S			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATCGGAGATCCATCTCCTTTG	0.388000													29	246					1.88708e-17	2.62564e-17	0.008361	1	0
UBC	7316	broad.mit.edu	37	12	125397084	125397084	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:125397084C>T	ENST00000536769.1	-	1	2810	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	UBC_ENST00000339647.5_Missense_Mutation_p.D412N|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.D336N			P0CG48	UBC_HUMAN	ubiquitin C	412	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCTTCCTTGTCTTGGATCTTT	0.517000													9	187					0	0	0.013537	0	0
ZNF154	7710	broad.mit.edu	37	19	58213785	58213785	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:58213785C>T	ENST00000512439.2	-	3	728	c.532G>A	c.(532-534)Gac>Aac	p.D178N	ZNF154_ENST00000426889.1_Missense_Mutation_p.D178N|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	178						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTCCAATGGTCATTGAGACTG	0.438000													33	380					0	0	0.012213	0	0
DMPK	1760	broad.mit.edu	37	19	46280928	46280928	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:46280928G>A	ENST00000600757.1	-	6	1596	c.909C>T	c.(907-909)taC>taT	p.Y303Y	DMPK_ENST00000458663.2_Silent_p.Y293Y|DMPK_ENST00000447742.2_Silent_p.Y293Y|DMPK_ENST00000354227.5_Silent_p.Y293Y|DMPK_ENST00000343373.4_Silent_p.Y303Y|DMPK_ENST00000291270.4_Silent_p.Y293Y			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	303	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TGCTCACCTTGTAGTGGACGA	0.622000													9	48					0	0	0.024245	0	0
DDX18	8886	broad.mit.edu	37	2	118579437	118579437	+	Splice_Site	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:118579437G>C	ENST00000263239.2	+	6	879		c.e6-1		DDX18_ENST00000474694.1_Splice_Site	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18								ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCATTTTTAGGAACAGGAGT	0.418000													11	221					0	0	0.008291	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204412608	204412608	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:204412608C>A	ENST00000367187.3	-	20	3541	c.2985G>T	c.(2983-2985)tgG>tgT	p.W995C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.W967C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	995					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CATTGACAAGCCAGCACTGGC	0.587000													4	22					1.67942e-08	2.12303e-08	0.006122	1	0
ZNF594	84622	broad.mit.edu	37	17	5085319	5085319	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:5085319C>A	ENST00000399604.4	-	1	2373	c.2233G>T	c.(2233-2235)Gat>Tat	p.D745Y	ZNF594_ENST00000575779.1_Missense_Mutation_p.D745Y			Q96JF6	ZN594_HUMAN	zinc finger protein 594	745					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGCTCCTCATCCTTGCTGAAG	0.453000													28	331					7.38237e-10	9.5543e-10	0.006320	1	0
TTN	7273	broad.mit.edu	37	2	179637970	179637970	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:179637970G>C	ENST00000589042.1	-	33	7945	c.7721C>G	c.(7720-7722)cCc>cGc	p.P2574R	TTN_ENST00000360870.5_Missense_Mutation_p.P2574R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P2574R|TTN_ENST00000460472.2_Missense_Mutation_p.P2528R|TTN_ENST00000342175.6_Missense_Mutation_p.P2528R|TTN_ENST00000342992.6_Missense_Mutation_p.P2574R|TTN_ENST00000359218.5_Missense_Mutation_p.P2528R|TTN-AS1_ENST00000584485.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2308							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)			TTTAGAACTGGGCTTGATTTC	0.358000													6	106					0	0	0.021553	0	0
ALK	238	broad.mit.edu	37	2	29451871	29451871	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:29451871C>T	ENST00000389048.3	-	16	3600	c.2694G>A	c.(2692-2694)gaG>gaA	p.E898E	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	898	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.E898D(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CGGTGGCACCCTCCTGCAAAG	0.617000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	70					0	0	0.010729	0	0
SEL1L2	80343	broad.mit.edu	37	20	13846071	13846071	+	Silent	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr20:13846071A>T	ENST00000284951.5	-	16	1568	c.1494T>A	c.(1492-1494)tcT>tcA	p.S498S	SEL1L2_ENST00000486903.1_Intron|SEL1L2_ENST00000378072.5_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	498						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ACTGAACAAGAGAAGAATCTA	0.398000													20	175					0	0	0.007413	0	0
MTMR12	54545	broad.mit.edu	37	5	32239198	32239198	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:32239198C>A	ENST00000382142.3	-	13	1423	c.1253G>T	c.(1252-1254)gGt>gTt	p.G418V	MTMR12_ENST00000280285.5_Missense_Mutation_p.G418V|MTMR12_ENST00000264934.5_Missense_Mutation_p.G418V	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	418	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCTCTGGAAACCAATTCTGGT	0.547000													17	83					1.67942e-08	2.12303e-08	0.006122	1	0
C2CD3	26005	broad.mit.edu	37	11	73850838	73850838	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:73850838G>A	ENST00000334126.7	-	4	745	c.519C>T	c.(517-519)taC>taT	p.Y173Y	C2CD3_ENST00000539061.1_Silent_p.Y173Y|C2CD3_ENST00000313663.7_Silent_p.Y173Y			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	173						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGTAGCTGTCGTAAGTTTCTG	0.413000													8	159					0	0	0.003080	0	0
DOPEY2	9980	broad.mit.edu	37	21	37605353	37605353	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr21:37605353G>C	ENST00000399151.3	+	15	2687	c.2602G>C	c.(2602-2604)Gag>Cag	p.E868Q		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	868					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGTCATTGCAGAGAAAACAGA	0.478000													7	39					0	0	0.001984	0	0
ZBTB38	253461	broad.mit.edu	37	3	141162113	141162113	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:141162113G>A	ENST00000514251.1	+	4	1162	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	ZBTB38_ENST00000321464.5_Missense_Mutation_p.E296K|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E295K			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	295					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GGTTAATCAAGAAAGAAGTCC	0.428000													16	307					0	0	0.021022	0	0
FAM50B	26240	broad.mit.edu	37	6	3850660	3850660	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:3850660G>T	ENST00000380274.1	+	1	1041	c.615G>T	c.(613-615)aaG>aaT	p.K205N	FAM50B_ENST00000380272.3_Missense_Mutation_p.K205N			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	205						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GGGTGCGCAAGGGCAACACGG	0.657000													8	42					2.17888e-05	2.49711e-05	0.006214	1	0
CPM	1368	broad.mit.edu	37	12	69265736	69265736	+	Splice_Site	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:69265736T>A	ENST00000551568.1	-	4	319	c.258_splice	c.e4-1	p.T87_splice	CPM_ENST00000338356.3_Splice_Site_p.T87_splice|CPM_ENST00000546373.1_Splice_Site_p.T87_splice	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	87					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CGCCCAACAGTCTATATGTGT	0.443000													40	94					0	0	0.014410	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256565	69256565	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:69256565G>T	ENST00000439696.2	-	2	1003	c.702C>A	c.(700-702)gcC>gcA	p.A234A	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.A234A	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	234					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGAGGTCATCGGCGCTCAGAA	0.642000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	241					0.00307968	0.00328323	0.003080	1	0
SKAP1	8631	broad.mit.edu	37	17	46259763	46259763	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:46259763C>A	ENST00000336915.6	-	8	693	c.624G>T	c.(622-624)ttG>ttT	p.L208F	SKAP1_ENST00000584924.1_Missense_Mutation_p.L208F	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	208	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TACCCTTTAACAAGAAACTTA	0.318000													52	400					3.07002e-29	4.47155e-29	0.014410	1	0
IGLV2-23	28813	broad.mit.edu	37	22	23040756	23040756	+	RNA	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr22:23040756G>A	ENST00000390306.2	+	0	366																											CCAAACTCATGATTTATGAGG	0.547000													7	228					0	0	0.004482	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57068072	57068072	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:57068072G>A	ENST00000532437.1	-	10	5443	c.5132C>T	c.(5131-5133)tCa>tTa	p.S1711L	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1711L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1711	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CGATCCTTCTGACCTAGGAGG	0.512000													8	306					0	0	0.004482	0	0
FGD6	55785	broad.mit.edu	37	12	95483427	95483427	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:95483427G>C	ENST00000343958.4	-	18	4119	c.3896C>G	c.(3895-3897)tCt>tGt	p.S1299C	FGD6_ENST00000546711.1_Missense_Mutation_p.S1299C	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1299					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ACTTGAAGGAGATTTGTGATT	0.408000													14	189					0	0	0.016723	0	0
LMAN1	3998	broad.mit.edu	37	18	57016400	57016400	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr18:57016400C>T	ENST00000251047.5	-	6	1425	c.708G>A	c.(706-708)atG>atA	p.M236I	LMAN1_ENST00000587940.1_5'UTR	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	236	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)	CAGGGATAATCATATTTTCCA	0.358000													4	103					0	0	0.014758	0	0
LCE3A	353142	broad.mit.edu	37	1	152595538	152595538	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:152595538G>T	ENST00000335674.1	-	1	41	c.42C>A	c.(40-42)ccC>ccA	p.P14P		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	14					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGGCACTTGGGCGGAGGCT	0.607000													8	178					2.80697e-09	3.6007e-09	0.010729	1	0
VNN1	8876	broad.mit.edu	37	6	133032957	133032957	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:133032957G>A	ENST00000367928.4	-	2	245	c.232C>T	c.(232-234)Cca>Tca	p.P78S		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	78	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GCATCTTCTGGAGTCACAATA	0.458000													21	131					0	0	0.012213	0	0
XDH	7498	broad.mit.edu	37	2	31570420	31570420	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:31570420C>T	ENST00000379416.3	-	29	3292	c.3244G>A	c.(3244-3246)Gtc>Atc	p.V1082I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1082					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCAGCGCTGACAGAGGCAGCC	0.582000													10	42					0	0	0.004990	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140869472	140869472	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:140869472G>A	ENST00000252087.1	+	1	665	c.665G>A	c.(664-666)cGc>cAc	p.R222H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		222	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R222H(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCCAGCCCGCTCAGGGACC	0.552000													4	176					0	0	0.014758	0	0
EPHA8	2046	broad.mit.edu	37	1	22895844	22895844	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:22895844G>T	ENST00000166244.3	+	2	229	c.157G>T	c.(157-159)Ggg>Tgg	p.G53W	EPHA8_ENST00000538803.1_Missense_Mutation_p.G53W|EPHA8_ENST00000374644.4_Missense_Mutation_p.G53W	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	53						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCGGCTCATGGGGTGAGTGA	0.567000													8	81					5.18039e-06	6.06468e-06	0.003080	1	0
STAT4	6775	broad.mit.edu	37	2	191899317	191899317	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:191899317G>A	ENST00000392320.2	-	18	1891	c.1577C>T	c.(1576-1578)tCt>tTt	p.S526F	STAT4_ENST00000358470.4_Missense_Mutation_p.S526F	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	526					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACTGTAGCTAGATTGGACTGA	0.373000													7	216					0	0	0.004482	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100006280	100006280	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:100006280C>T	ENST00000398027.2	-	10	1118	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	ZCWPW1_ENST00000324725.6_Missense_Mutation_p.V171M|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.V171M|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.V292M	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	291							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTATACTGCACATCTGCTGAA	0.478000													24	96					0	0	0.018920	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329956	88329956	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:88329956C>A	ENST00000325089.6	+	2	2532	c.2313C>A	c.(2311-2313)aaC>aaA	p.N771K	SLITRK5_ENST00000400028.3_Missense_Mutation_p.N530K	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	771						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAGAGGGCAACTCCGTAGAGG	0.622000													23	106					7.26314e-15	9.93123e-15	0.007291	1	0
DMTN	2039	broad.mit.edu	37	8	21927731	21927731	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:21927731G>A	ENST00000358242.3	+	8	983	c.490G>A	c.(490-492)Gag>Aag	p.E164K	DMTN_ENST00000265800.5_Missense_Mutation_p.E164K|DMTN_ENST00000443491.2_Missense_Mutation_p.E139K|DMTN_ENST00000523782.2_Missense_Mutation_p.E139K|DMTN_ENST00000523266.1_Missense_Mutation_p.E164K|DMTN_ENST00000432128.1_Missense_Mutation_p.E164K|DMTN_ENST00000415253.1_Missense_Mutation_p.E164K|DMTN_ENST00000517600.1_Missense_Mutation_p.E124K|DMTN_ENST00000381470.3_Missense_Mutation_p.E164K|DMTN_ENST00000519907.1_Missense_Mutation_p.E164K					dematin actin binding protein																		GCACCTCATCGAGGATCTCAT	0.612000													6	170					0	0	0.001984	0	0
PPP2CA	5515	broad.mit.edu	37	5	133536187	133536187	+	Splice_Site	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:133536187C>A	ENST00000481195.1	-	5	857	c.576_splice	c.e5-1	p.G193_splice		NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACATTGGACCCTAAAAAATA	0.413000													5	86					0.014758	0.0153392	0.014758	1	0
CXorf22	170063	broad.mit.edu	37	X	35966554	35966554	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:35966554T>A	ENST00000297866.5	+	4	707	c.641T>A	c.(640-642)gTa>gAa	p.V214E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	214										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CCAAGAATTGTAGATGAAGAG	0.378000													16	204					0	0	0.010504	0	0
SPTBN1	6711	broad.mit.edu	37	2	54871577	54871577	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:54871577C>T	ENST00000333896.5	+	19	4469	c.4084C>T	c.(4084-4086)Cgg>Tgg	p.R1362W	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R1375W	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1375					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAAGGCCCAGCGGCTCTTTGA	0.488000													5	114					0	0	0.021553	0	0
PLOD2	5352	broad.mit.edu	37	3	145809621	145809621	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:145809621C>A	ENST00000282903.5	-	8	1022	c.845G>T	c.(844-846)tGt>tTt	p.C282F	PLOD2_ENST00000494950.1_Missense_Mutation_p.C227F|PLOD2_ENST00000360060.3_Missense_Mutation_p.C282F|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	282					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ATCGAATTCACAAAGAGTGCA	0.338000													6	62					5.18039e-06	6.06468e-06	0.003080	1	0
TMEM132B	114795	broad.mit.edu	37	12	126128651	126128651	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:126128651G>T	ENST00000299308.3	+	6	1460	c.1452G>T	c.(1450-1452)gtG>gtT	p.V484V	TMEM132B_ENST00000535886.1_5'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	484						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCATTTTTGTGAATGGGAAGG	0.468000													10	61					3.07112e-06	3.63443e-06	0.010729	1	0
SLC5A3	6526	broad.mit.edu	37	21	35468163	35468163	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr21:35468163C>T	ENST00000381151.3	+	2	1178	c.666C>T	c.(664-666)ccC>ccT	p.P222P	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	222						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGGCCTCACCCGATGTCACTT	0.428000													4	167					0	0	0.009096	0	0
HENMT1	113802	broad.mit.edu	37	1	109191326	109191326	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:109191326C>A	ENST00000370032.5	-	8	1464	c.1044G>T	c.(1042-1044)gcG>gcT	p.A348A	HENMT1_ENST00000370031.1_Silent_p.A379A|HENMT1_ENST00000402983.1_Silent_p.A348A	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	348					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						ACTTGGGATACGCAAGGAGTC	0.473000													5	90					5.9392e-07	7.21484e-07	0.021553	1	0
CCT4	10575	broad.mit.edu	37	2	62107456	62107456	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:62107456G>C	ENST00000394440.3	-	4	640	c.344C>G	c.(343-345)tCc>tGc	p.S115C	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Missense_Mutation_p.S85C|CCT4_ENST00000538252.1_Missense_Mutation_p.S59C|CCT4_ENST00000544185.1_Intron	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	115					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ATCTAAGAGGGAGCCAGCAAT	0.403000													17	135					0	0	0.007413	0	0
CPSF3	51692	broad.mit.edu	37	2	9574073	9574073	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:9574073C>G	ENST00000460593.1	+	6	1620	c.482C>G	c.(481-483)cCt>cGt	p.P161R	CPSF3_ENST00000238112.3_Missense_Mutation_p.P198R			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	198					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		AATATTAAGCCTGATATTCTT	0.284000													5	76					0	0	0.014758	0	0
ZNF528	84436	broad.mit.edu	37	19	52919516	52919516	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:52919516G>T	ENST00000360465.3	+	7	1837	c.1411G>T	c.(1411-1413)Ggc>Tgc	p.G471C	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TAAAGAATGTGGCAAAGTCTT	0.393000													22	82					2.89027e-11	3.85517e-11	0.014323	1	0
SLMAP	7871	broad.mit.edu	37	3	57908711	57908711	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:57908711T>A	ENST00000295951.3	+	21	3521	c.2304T>A	c.(2302-2304)tgT>tgA	p.C768*	SLMAP_ENST00000494088.1_Nonsense_Mutation_p.C278*|SLMAP_ENST00000449503.2_Nonsense_Mutation_p.C747*|SLMAP_ENST00000428312.1_Nonsense_Mutation_p.C785*|SLMAP_ENST00000442599.2_Nonsense_Mutation_p.C253*|SLMAP_ENST00000295952.3_Nonsense_Mutation_p.C768*|SLMAP_ENST00000495364.1_Nonsense_Mutation_p.C319*			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	785					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCAAACAGTGTAAAAACAACC	0.383000													23	119					0	0	0.016522	0	0
TTC16	158248	broad.mit.edu	37	9	130482646	130482646	+	Missense_Mutation	SNP	G	G	T	rs137884355		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr9:130482646G>T	ENST00000373289.3	+	6	709	c.629G>T	c.(628-630)cGg>cTg	p.R210L	PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.R34L|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	210							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TACATCTTCCGGGCCAGACTC	0.607000													4	12					0.00909568	0.00951061	0.009096	1	0
TSPO2	222642	broad.mit.edu	37	6	41011851	41011851	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:41011851C>A	ENST00000373161.1	+	4	733	c.488C>A	c.(487-489)cCt>cAt	p.P163H	TSPO2_ENST00000373158.2_3'UTR|TSPO2_ENST00000470917.1_Missense_Mutation_p.P163H	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	163					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GTGCACCAGCCTCAGCCCACG	0.632000													11	71					1.05317e-09	1.35497e-09	0.020292	1	0
MUC16	94025	broad.mit.edu	37	19	9011388	9011388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:9011388G>A	ENST00000397910.4	-	36	39048	c.38845C>T	c.(38845-38847)Cag>Tag	p.Q12949*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12951	SEA 6.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGTCAGCTGGCTCAGCTCC	0.552000													158	801					0	0	0.014410	0	0
CACNG6	59285	broad.mit.edu	37	19	54515441	54515441	+	Nonstop_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:54515441T>A	ENST00000252729.2	+	4	1371	c.781T>A	c.(781-783)Tag>Aag	p.*261K	CACNG6_ENST00000352529.1_Nonstop_Mutation_p.*190K|CACNG6_ENST00000346968.2_Nonstop_Mutation_p.*215K	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	0						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)		CCGGGCCACCTAGAGCCACGC	0.607000													5	201					0	0	0.001984	0	0
ZNF513	130557	broad.mit.edu	37	2	27601505	27601505	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:27601505G>A	ENST00000323703.6	-	3	826	c.628C>T	c.(628-630)Cac>Tac	p.H210Y	ZNF513_ENST00000407879.1_Missense_Mutation_p.H148Y|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	210					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGGGCAGTGGGGACAGCGG	0.692000													5	28					0	0	0.014758	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409618	56409618	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:56409618A>T	ENST00000544374.1	-	1	329	c.301T>A	c.(301-303)Ttt>Att	p.F101I	OR5AP2_ENST00000302981.1_Missense_Mutation_p.F100I			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CATCCATGAAAAGAAATGGCC	0.483000													22	90					0	0	0.018920	0	0
UGT2B4	7363	broad.mit.edu	37	4	70360959	70360959	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:70360959G>C	ENST00000305107.6	-	1	667	c.621C>G	c.(619-621)ttC>ttG	p.F207L	UGT2B4_ENST00000512583.1_Missense_Mutation_p.F207L|UGT2B4_ENST00000381096.3_Missense_Mutation_p.F71L|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	207					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CCCTCTCTATGAAAGTCATTT	0.383000													22	76					0	0	0.014323	0	0
IFT140	9742	broad.mit.edu	37	16	1639764	1639764	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:1639764C>T	ENST00000426508.2	-	7	1015	c.652G>A	c.(652-654)Gat>Aat	p.D218N	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	218								p.D218Y(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCCTTCTCATCCACATAGTGC	0.537000													11	95					0	0	0.016723	0	0
PTPRB	5787	broad.mit.edu	37	12	71016238	71016238	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:71016238T>A	ENST00000334414.6	-	3	684	c.640A>T	c.(640-642)Atg>Ttg	p.M214L	PTPRB_ENST00000551525.1_Missense_Mutation_p.M213L|PTPRB_ENST00000550358.1_Missense_Mutation_p.M214L|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATTCCAGTCATGTGCAGATTG	0.493000													30	115					0	0	0.012213	0	0
LMX1A	4009	broad.mit.edu	37	1	165218684	165218684	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:165218684C>A	ENST00000342310.3	-	4	839	c.457G>T	c.(457-459)Gag>Tag	p.E153*	LMX1A_ENST00000294816.2_Nonsense_Mutation_p.E153*|LMX1A_ENST00000367893.4_Nonsense_Mutation_p.E153*	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	153	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGAGCAGCTCCCGCTCCTTC	0.617000													8	133					7.48243e-07	9.02659e-07	0.006214	1	0
OR52B4	143496	broad.mit.edu	37	11	4389218	4389218	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:4389218A>T	ENST00000408920.2	-	1	398	c.308T>A	c.(307-309)cTc>cAc	p.L103H		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGAAGAAGAGCTGAGTGAT	0.522000													10	157					0	0	0.006214	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106647225	106647225	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:106647225C>A	ENST00000526355.1	-	6	2244	c.1776G>T	c.(1774-1776)atG>atT	p.M592I	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.M592I|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.M613I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	592	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TCTTCAAGGCCATCAGAGCAA	0.483000													10	31					7.48243e-07	9.02659e-07	0.006214	1	0
OR5AS1	219447	broad.mit.edu	37	11	55798415	55798415	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:55798415T>C	ENST00000313555.1	+	1	521	c.521T>C	c.(520-522)gTc>gCc	p.V174A		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCCAATATCGTCAATCATTTT	0.438000													15	545					0	0	0.020292	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907998	164907998	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:164907998C>T	ENST00000475390.1	-	2	1064	c.621G>A	c.(619-621)agG>agA	p.R207R	SLITRK3_ENST00000241274.3_Silent_p.R207R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	207						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GAACCTTTAACCTATTTCCAC	0.403000										HNSCC(40;0.11)			10	211					0	0	0.006214	0	0
C6orf222	389384	broad.mit.edu	37	6	36297905	36297905	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:36297905G>A	ENST00000437635.2	-	2	740	c.563C>T	c.(562-564)gCt>gTt	p.A188V		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	188										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CAAGGCAGCAGCTGCCTTGGA	0.632000													9	146					0	0	0.006214	0	0
PIK3R5	23533	broad.mit.edu	37	17	8784021	8784021	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:8784021C>T	ENST00000447110.1	-	19	2702	c.2578G>A	c.(2578-2580)Gcc>Acc	p.A860T	PIK3R5_ENST00000584803.1_Missense_Mutation_p.A859T|PIK3R5_ENST00000581552.1_Missense_Mutation_p.A860T	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	860					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TCAGGTGCGGCCTGGGCCGGC	0.637000													5	120					0	0	0.006214	0	0
ALX1	8092	broad.mit.edu	37	12	85694976	85694976	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:85694976T>A	ENST00000316824.3	+	4	859	c.704T>A	c.(703-705)gTg>gAg	p.V235E		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	235					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)		GGTGGTTCTGTGGTTACTTCA	0.403000													9	247					0	0	0.008291	0	0
DNAH9	1770	broad.mit.edu	37	17	11631139	11631139	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:11631139G>T	ENST00000262442.3	+	28	5782	c.5714G>T	c.(5713-5715)tGt>tTt	p.C1905F	DNAH9_ENST00000454412.2_Missense_Mutation_p.C1905F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1905	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGCAGTCTTGTGGCAACATC	0.453000													4	57					0.00116845	0.00125644	0.021553	1	0
DNM1P46	196968	broad.mit.edu	37	15	100332491	100332491	+	RNA	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:100332491A>T	ENST00000341853.1	-	0	1700					NR_003260.1																						CTGGAAAGACAGAAGTCATCA	0.592000													7	50					0	0	0.001984	0	0
NPAP1	23742	broad.mit.edu	37	15	24922552	24922552	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:24922552G>C	ENST00000329468.2	+	1	2012	c.1538G>C	c.(1537-1539)aGg>aCg	p.R513T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCCGTCACAAGGGAGTCCCCA	0.542000													91	397					0	0	0.014410	0	0
TFIP11	24144	broad.mit.edu	37	22	26897927	26897927	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr22:26897927T>A	ENST00000407690.1	-	8	1023	c.740A>T	c.(739-741)aAg>aTg	p.K247M	TFIP11_ENST00000405938.1_Missense_Mutation_p.K247M|TFIP11_ENST00000407148.1_Missense_Mutation_p.K247M|TFIP11_ENST00000496523.1_5'UTR|TFIP11_ENST00000407431.1_Missense_Mutation_p.K247M	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	247					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GCCCTTGGCCTTCAACTCTTC	0.522000													4	144					0	0	0.021553	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57068046	57068046	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:57068046G>A	ENST00000532437.1	-	10	5469	c.5158C>T	c.(5158-5160)Caa>Taa	p.Q1720*	TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.Q1720*			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1720	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TTCAGGGCTTGAAGCCAGTTG	0.537000													8	309					0	0	0.003080	0	0
TBX20	57057	broad.mit.edu	37	7	35280503	35280503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:35280503G>T	ENST00000408931.3	-	5	1327	c.801C>A	c.(799-801)taC>taA	p.Y267*		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	267						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GTTGATTCTGGTAGGCAGTGA	0.393000													12	100					1.05317e-09	1.35497e-09	0.020292	1	0
PCDH17	27253	broad.mit.edu	37	13	58299211	58299211	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:58299211C>G	ENST00000377918.3	+	4	3289	c.3263C>G	c.(3262-3264)cCt>cGt	p.P1088R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1088					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCAAGAGACCCTCCCTTCATG	0.527000													24	175					0	0	0.007291	0	0
ADCY8	114	broad.mit.edu	37	8	131812695	131812695	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:131812695C>G	ENST00000286355.5	-	15	5129	c.3037G>C	c.(3037-3039)Gag>Cag	p.E1013Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.E882Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1013					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCAATGATCTCATTGAGCAAG	0.438000										HNSCC(32;0.087)			76	775					0	0	0.014410	0	0
TMCO6	55374	broad.mit.edu	37	5	140023223	140023223	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:140023223G>C	ENST00000394671.3	+	8	982	c.881G>C	c.(880-882)gGg>gCg	p.G294A	TMCO6_ENST00000537378.1_Missense_Mutation_p.G54A|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.G300A	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	294					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTTGGCTGGGGCTGTCCAG	0.542000													19	304					0	0	0.016522	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652008	121652008	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:121652008C>A	ENST00000393386.2	+	12	3319	c.2908C>A	c.(2908-2910)Cca>Aca	p.P970T	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	970					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						TAGCCATATACCAATACCTAA	0.458000													31	157					3.54561e-26	5.15563e-26	0.009718	1	0
CDK5RAP3	80279	broad.mit.edu	37	17	46054172	46054172	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:46054172C>T	ENST00000536708.2	+	9	1077	c.968C>T	c.(967-969)cCg>cTg	p.P323L	CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.P298L	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	298					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						GGCATCTTCCCGGAATCAGAT	0.517000													6	76					0	0	0.021553	0	0
INSIG1	3638	broad.mit.edu	37	7	155093401	155093401	+	Splice_Site	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:155093401G>A	ENST00000340368.4	+	3	748		c.e3+1		INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1						cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCAGTGCTGTATCCTTAAT	0.403000													5	98					0	0	0.014758	0	0
SLC9A6	10479	broad.mit.edu	37	X	135095589	135095589	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:135095589C>A	ENST00000370695.4	+	9	1264	c.1229C>A	c.(1228-1230)aCt>aAt	p.T410N	SLC9A6_ENST00000370698.3_Missense_Mutation_p.T378N|SLC9A6_ENST00000370701.1_Missense_Mutation_p.T358N	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	378					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CAGCATAGAACTAAACAGGTA	0.318000													7	201					1.12685e-05	1.30517e-05	0.004482	1	0
VWC2L	402117	broad.mit.edu	37	2	215440493	215440493	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:215440493G>C	ENST00000312504.5	+	4	1420	c.618G>C	c.(616-618)tgG>tgC	p.W206C	AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_3'UTR	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	206						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						GGGACTGGTGGAAGCCTGCTC	0.478000													11	466					0	0	0.013537	0	0
BCCIP	56647	broad.mit.edu	37	10	127519198	127519198	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:127519198T>C	ENST00000299130.3	+	4	401	c.389T>C	c.(388-390)cTt>cCt	p.L130P	BCCIP_ENST00000278100.6_Missense_Mutation_p.L130P|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Missense_Mutation_p.L130P	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	130	Interaction with BRCA2.				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTCATAAGCCTTTTAAATTTA	0.308000													4	227					0	0	0.021553	0	0
PKD1L1	168507	broad.mit.edu	37	7	47870944	47870944	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:47870944C>T	ENST00000289672.2	-	42	6394	c.6344G>A	c.(6343-6345)aGc>aAc	p.S2115N		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2115					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAAACCACTGCTGGGTGCTGC	0.577000													7	93					0	0	0.004482	0	0
MC5R	4161	broad.mit.edu	37	18	13826533	13826533	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr18:13826533C>T	ENST00000324750.3	+	1	991	c.769C>T	c.(769-771)Cat>Tat	p.H257Y		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	257					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GTTCTTCCTTCATCTCACTTT	0.547000													12	45					0	0	0.010729	0	0
ZMYM6	9204	broad.mit.edu	37	1	35485057	35485057	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:35485057T>A	ENST00000357182.4	-	4	552	c.325A>T	c.(325-327)Aca>Tca	p.T109S	ZMYM6_ENST00000373333.1_Missense_Mutation_p.T109S|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000487874.1_Missense_Mutation_p.T109S|ZMYM6_ENST00000373340.2_Missense_Mutation_p.T109S|ZMYM6_ENST00000317538.5_Missense_Mutation_p.T109S	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	109					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GTAGATCCTGTCTTATGATAT	0.458000													11	207					0	0	0.016723	0	0
GABRB2	2561	broad.mit.edu	37	5	160886748	160886748	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:160886748G>T	ENST00000274547.2	-	5	557	c.340C>A	c.(340-342)Cag>Aag	p.Q114K	GABRB2_ENST00000517901.1_Missense_Mutation_p.Q51K|GABRB2_ENST00000520240.1_Missense_Mutation_p.Q114K|GABRB2_ENST00000353437.6_Missense_Mutation_p.Q114K|GABRB2_ENST00000393959.1_Missense_Mutation_p.Q114K|GABRB2_ENST00000517547.1_Intron	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	114					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACCCAGAGCTGGTCTGCCACT	0.448000													17	84					2.48551e-13	3.34602e-13	0.004990	1	0
GSTA2	2939	broad.mit.edu	37	6	52617777	52617777	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:52617777C>T	ENST00000493422.1	-	5	444	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	97	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GCTATACCTTCTATATACATA	0.348000													65	420					0	0	0.014410	0	0
DISC1	27185	broad.mit.edu	37	1	231829654	231829654	+	Silent	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:231829654A>G	ENST00000439617.2	+	2	203	c.150A>G	c.(148-150)acA>acG	p.T50T	DISC1_ENST00000535983.1_Silent_p.T50T|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000317586.4_Silent_p.T50T|DISC1_ENST00000537876.1_Silent_p.T50T|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000539444.1_Silent_p.T50T|DISC1_ENST00000366636.4_Silent_p.T50T|DISC1_ENST00000602281.1_Silent_p.T50T|DISC1_ENST00000366633.3_Silent_p.T50T|DISC1_ENST00000602873.1_Intron	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	50	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GAAGCTCGACAGGGCCTGGGA	0.637000													6	68					0	0	0.003080	0	0
CDK17	5128	broad.mit.edu	37	12	96704920	96704920	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:96704920G>T	ENST00000261211.3	-	5	1056	c.453C>A	c.(451-453)atC>atA	p.I151I	CDK17_ENST00000542666.1_Silent_p.I98I|CDK17_ENST00000543119.2_Silent_p.I151I	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	151							ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						CAGGTATTCTGATGTCTGCAG	0.368000													34	101					6.84511e-11	9.04718e-11	0.015359	1	0
OBSCN	84033	broad.mit.edu	37	1	228437916	228437916	+	Silent	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:228437916G>C	ENST00000570156.2	+	15	4634	c.4560G>C	c.(4558-4560)cgG>cgC	p.R1520R	OBSCN_ENST00000284548.11_Silent_p.R1428R|OBSCN_ENST00000422127.1_Silent_p.R1428R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	498	Ig-like 15.				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)				GGGGCCAGCGGCTCTCCTTCA	0.637000													12	68					0	0	0.016723	0	0
TP53	7157	broad.mit.edu	37	17	7577118	7577118	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:7577118C>A	ENST00000420246.2	-	8	952	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F	TP53_ENST00000359597.4_Missense_Mutation_p.V274F|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V274F|TP53_ENST00000455263.2_Missense_Mutation_p.V274F|TP53_ENST00000269305.4_Missense_Mutation_p.V274F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V274F(21)|p.V274L(11)|p.0?(8)|p.V274I(4)|p.?(2)|p.R273_C275delRVC(1)|p.V274fs*71(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGCACAAACACGCACCTCA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			12	65					3.07112e-06	3.63443e-06	0.010729	1	0
TRPV5	56302	broad.mit.edu	37	7	142627277	142627277	+	Splice_Site	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:142627277T>A	ENST00000265310.1	-	3	575		c.e3-2		TRPV5_ENST00000442623.1_Splice_Site	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5						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)					CCAGGGCTCCTGGATTGGAGT	0.567000													29	87					0	0	0.010818	0	0
CMYA5	202333	broad.mit.edu	37	5	79026737	79026737	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:79026737C>G	ENST00000446378.2	+	2	2180	c.2149C>G	c.(2149-2151)Cgt>Ggt	p.R717G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	717						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)		AACAATTGACCGTAAGTCCCC	0.453000													19	179					0	0	0.007413	0	0
LRRC66	339977	broad.mit.edu	37	4	52863952	52863952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:52863952C>T	ENST00000343457.3	-	3	824	c.818G>A	c.(817-819)tGg>tAg	p.W273*		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	273						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTTTTTCCTCCAGGATTCAGA	0.368000													33	380					0	0	0.015359	0	0
CRB1	23418	broad.mit.edu	37	1	197390148	197390148	+	Translation_Start_Site	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:197390148A>T	ENST00000367397.1	+	0	191				CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_De_novo_Start_OutOfFrame|CRB1_ENST00000367399.2_Missense_Mutation_p.D285V|CRB1_ENST00000535699.1_Missense_Mutation_p.D328V|CRB1_ENST00000543483.1_Missense_Mutation_p.D96V|CRB1_ENST00000367400.3_Missense_Mutation_p.D397V|CRB1_ENST00000538660.1_Missense_Mutation_p.D397V			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCGAAGAAGACGTCAATGAA	0.333000													25	291					0	0	0.024334	0	0
RSAD2	91543	broad.mit.edu	37	2	7018038	7018038	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:7018038G>A	ENST00000382040.3	+	1	243	c.107G>A	c.(106-108)aGg>aAg	p.R36K		NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	36					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TGCTGGCTGAGGGCAACCTTC	0.582000													5	46					0	0	0.003080	0	0
FAM26F	441168	broad.mit.edu	37	6	116784654	116784654	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:116784654A>T	ENST00000368605.1	+	3	829	c.734A>T	c.(733-735)cAt>cTt	p.H245L	FAM26F_ENST00000368606.3_Missense_Mutation_p.H73L|RP1-93H18.6_ENST00000476099.1_RNA	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	245						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		GAGGGCTCGCATCCAAAAGAA	0.398000													7	280					0	0	0.006214	0	0
MARS2	92935	broad.mit.edu	37	2	198571256	198571256	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:198571256G>C	ENST00000282276.6	+	1	1170	c.1127G>C	c.(1126-1128)cGg>cCg	p.R376P	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	376					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTTCTCCTTCGGCAGGGCGTC	0.537000													8	254					0	0	0.003080	0	0
EIF3E	3646	broad.mit.edu	37	8	109226851	109226851	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:109226851T>C	ENST00000220849.5	-	10	1108	c.1046A>G	c.(1045-1047)cAg>cGg	p.Q349R	EIF3E_ENST00000519517.1_5'UTR|EIF3E_ENST00000519030.1_Missense_Mutation_p.Q256R	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	349	PCI.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GCTGATACACTGGTGGATGCG	0.348000													4	120					0	0	0.014758	0	0
ITGAL	3683	broad.mit.edu	37	16	30500667	30500667	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:30500667G>T	ENST00000356798.6	+	11	1353	c.1173G>T	c.(1171-1173)ggG>ggT	p.G391G	RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000358164.5_Silent_p.G308G	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	391					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CATTTATTGGGAATGAACCAT	0.542000													26	139					2.79863e-10	3.64911e-10	0.024334	1	0
EDIL3	10085	broad.mit.edu	37	5	83239258	83239258	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:83239258C>A	ENST00000296591.5	-	11	1841	c.1423G>T	c.(1423-1425)Ggc>Tgc	p.G475C	EDIL3_ENST00000380138.3_Missense_Mutation_p.G465C	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	475	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCTGTGCAGCCCAGCAGCTCT	0.483000													8	160					0.000157383	0.000175071	0.003080	1	0
PDE4C	5143	broad.mit.edu	37	19	18327622	18327622	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:18327622C>T	ENST00000355502.3	-	16	2285	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	PDE4C_ENST00000447275.2_Missense_Mutation_p.E366K|PDE4C_ENST00000594617.2_Missense_Mutation_p.E472K|PDE4C_ENST00000594465.2_Missense_Mutation_p.E472K|PDE4C_ENST00000539010.1_Missense_Mutation_p.E241K|PDE4C_ENST00000262805.11_Missense_Mutation_p.E440K|AC068499.10_ENST00000594805.2_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	472					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TCGCAGTTCTCTGCCTGCAGC	0.592000													12	86					0	0	0.016723	0	0
UNC79	57578	broad.mit.edu	37	14	94041498	94041498	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:94041498G>A	ENST00000553484.1	+	17	2319	c.2165G>A	c.(2164-2166)aGa>aAa	p.R722K	UNC79_ENST00000393151.2_Missense_Mutation_p.R722K|UNC79_ENST00000555664.1_Missense_Mutation_p.R722K|UNC79_ENST00000256339.4_Missense_Mutation_p.R545K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	722						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCAAATCAAAGAAAATCAAGA	0.373000													16	134					0	0	0.004990	0	0
CCDC13	152206	broad.mit.edu	37	3	42799745	42799745	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:42799745C>G	ENST00000310232.6	-	2	176	c.93G>C	c.(91-93)gaG>gaC	p.E31D	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	31										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CCCTCTTTTTCTCCATCTGCT	0.532000													5	207					0	0	0.001984	0	0
ZNF287	57336	broad.mit.edu	37	17	16456620	16456620	+	Missense_Mutation	SNP	C	C	T	rs145649102		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:16456620C>T	ENST00000395824.1	-	6	1453	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	ZNF287_ENST00000395825.3_Missense_Mutation_p.R279Q			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	272					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ACCTTTTCCTCGCCTCTCTAG	0.398000													6	467					0	0	0.003080	0	0
TSIX	9383	broad.mit.edu	37	X	73046337	73046337	+	RNA	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:73046337A>T	ENST00000604411.1	+	0	34298				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AGACTGGCCCAGGCATAATAC	0.368000													4	60					0	0	0.009096	0	0
ACSM1	116285	broad.mit.edu	37	16	20696552	20696552	+	Silent	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:20696552A>G	ENST00000307493.4	-	2	433	c.366T>C	c.(364-366)ccT>ccC	p.P122P	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.P122P	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	122					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GCCACCACTCAGGAACTCGAG	0.587000													18	185					0	0	0.008871	0	0
DNAH8	1769	broad.mit.edu	37	6	38854616	38854616	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:38854616G>T	ENST00000359357.3	+	55	7912	c.7658G>T	c.(7657-7659)aGc>aTc	p.S2553I	DNAH8_ENST00000449981.2_Missense_Mutation_p.S2770I|DNAH8_ENST00000441566.1_Missense_Mutation_p.S2517I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAATGTACAGCTTGGACAAG	0.398000													25	209					9.65021e-13	1.29512e-12	0.010818	1	0
PLXNA4	91584	broad.mit.edu	37	7	132174109	132174109	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:132174109T>A	ENST00000359827.3	-	3	2275	c.1313A>T	c.(1312-1314)tAt>tTt	p.Y438F	PLXNA4_ENST00000423507.2_Missense_Mutation_p.Y438F|PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y438F|PLXNA4_ENST00000378539.5_Missense_Mutation_p.Y438F			Q9HCM2	PLXA4_HUMAN	plexin A4	438	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTTGTAGACATATGCGATGAC	0.527000													8	64					0	0	0.003080	0	0
FAT4	79633	broad.mit.edu	37	4	126389741	126389741	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:126389741G>C	ENST00000394329.3	+	11	11987	c.11974G>C	c.(11974-11976)Gac>Cac	p.D3992H	FAT4_ENST00000335110.5_Missense_Mutation_p.D2255H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3992	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCAAGCTTGGACCCCAATAA	0.403000													5	101					0	0	0.014758	0	0
STAT4	6775	broad.mit.edu	37	2	191899300	191899300	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:191899300G>A	ENST00000392320.2	-	18	1908	c.1594C>T	c.(1594-1596)Cac>Tac	p.H532Y	STAT4_ENST00000358470.4_Missense_Mutation_p.H532Y	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	532					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CAGGTGAGGTGACCATCACTG	0.353000													6	236					0	0	0.006214	0	0
FLG	2312	broad.mit.edu	37	1	152282444	152282444	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:152282444T>C	ENST00000368799.1	-	3	4953	c.4918A>G	c.(4918-4920)Aga>Gga	p.R1640G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1640	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGGCTCTATCTTCTTGA	0.562000									Ichthyosis				6	212					0	0	0.021553	0	0
FAM47A	158724	broad.mit.edu	37	X	34149640	34149640	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:34149640G>T	ENST00000346193.3	-	1	807	c.756C>A	c.(754-756)ccC>ccA	p.P252P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	252	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GACGAGTGATGGGAGGCCCCG	0.632000													8	105					0.00621372	0.00654431	0.006214	1	0
BEND2	139105	broad.mit.edu	37	X	18234699	18234699	+	Silent	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:18234699T>A	ENST00000380033.4	-	2	312	c.180A>T	c.(178-180)acA>acT	p.T60T	BEND2_ENST00000380030.3_Silent_p.T60T	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	60										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AATTTGGTTGTGTGGCTGTGT	0.403000													6	216					0	0	0.003080	0	0
POLR1B	84172	broad.mit.edu	37	2	113308449	113308449	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:113308449C>T	ENST00000263331.5	+	5	1212	c.632C>T	c.(631-633)tCa>tTa	p.S211L	POLR1B_ENST00000409894.3_Missense_Mutation_p.S211L|POLR1B_ENST00000417433.2_Missense_Mutation_p.S155L|POLR1B_ENST00000537335.1_5'UTR|POLR1B_ENST00000541869.1_Missense_Mutation_p.S249L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	211					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						ATAGGAGTTTCAATGCACTGT	0.353000													6	92					0	0	0.001984	0	0
KCNH7	90134	broad.mit.edu	37	2	163374376	163374376	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:163374376C>A	ENST00000332142.5	-	4	855	c.756G>T	c.(754-756)ctG>ctT	p.L252L	KCNH7_ENST00000328032.4_Silent_p.L252L|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	252					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AACTTGACTGCAGCATGTCAG	0.498000													15	210					3.52763e-06	4.15212e-06	0.004990	1	0
RICTOR	253260	broad.mit.edu	37	5	38945638	38945638	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:38945638C>A	ENST00000357387.3	-	34	4618	c.4588G>T	c.(4588-4590)Ggt>Tgt	p.G1530C	RICTOR_ENST00000296782.5_Missense_Mutation_p.G1554C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1530					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GGCTGGAAACCCAGAATTTCA	0.418000													4	135					1.024e-07	1.26691e-07	0.014758	1	0
UACA	55075	broad.mit.edu	37	15	70959204	70959204	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:70959204A>T	ENST00000322954.6	-	16	4004	c.3819T>A	c.(3817-3819)gaT>gaA	p.D1273E	UACA_ENST00000539319.1_Missense_Mutation_p.D1164E|UACA_ENST00000379983.2_Missense_Mutation_p.D1260E|UACA_ENST00000560441.1_Missense_Mutation_p.D1258E	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1273						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTCCTTCTCATCTTTTGCAG	0.343000													69	431					0	0	0.014410	0	0
PRPF8	10594	broad.mit.edu	37	17	1584926	1584926	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:1584926G>A	ENST00000572621.1	-	5	977	c.712C>T	c.(712-714)Ctc>Ttc	p.L238F	PRPF8_ENST00000304992.6_Missense_Mutation_p.L238F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	238						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGGCGGTAGAGAGTCGACATC	0.463000													18	214					0	0	0.012319	0	0
IGLV2-23	28813	broad.mit.edu	37	22	23040763	23040763	+	RNA	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr22:23040763G>A	ENST00000390306.2	+	0	373																											CATGATTTATGAGGGCAGTAA	0.552000													5	219					0	0	0.001984	0	0
FGR	2268	broad.mit.edu	37	1	27939493	27939493	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:27939493G>A	ENST00000374005.3	-	13	1810	c.1522C>T	c.(1522-1524)Ctg>Ttg	p.L508L	FGR_ENST00000545953.1_Silent_p.L442L|FGR_ENST00000374004.1_Silent_p.L508L|FGR_ENST00000399173.1_Silent_p.L508L	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	508	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAGGACTGCAGGTACTCGAAG	0.627000													9	118					0	0	0.004482	0	0
ATP2A2	488	broad.mit.edu	37	12	110777088	110777088	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:110777088C>T	ENST00000395494.2	+	11	1904	c.1341C>T	c.(1339-1341)gtC>gtT	p.V447V	ATP2A2_ENST00000308664.6_Silent_p.V474V|ATP2A2_ENST00000539276.2_Silent_p.V474V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	474					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTTTGTAGGTCATTAAACAGC	0.383000													17	70					0	0	0.016522	0	0
CTNND2	1501	broad.mit.edu	37	5	11346536	11346536	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:11346536C>G	ENST00000304623.8	-	9	1765	c.1576G>C	c.(1576-1578)Gaa>Caa	p.E526Q	CTNND2_ENST00000359640.2_Missense_Mutation_p.E526Q|CTNND2_ENST00000511377.1_Missense_Mutation_p.E435Q|CTNND2_ENST00000503622.1_Missense_Mutation_p.E189Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.E93Q	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	526					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AAGGTGCCTTCAGGCGGGAGA	0.537000													15	142					0	0	0.007413	0	0
LCT	3938	broad.mit.edu	37	2	136575116	136575116	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:136575116G>T	ENST00000264162.2	-	6	1512	c.1502C>A	c.(1501-1503)cCt>cAt	p.P501H		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	501	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CAGGGCCTGAGGCAGGTCCCA	0.602000													8	30					2.74318e-10	3.58755e-10	0.006214	1	0
RASAL2	9462	broad.mit.edu	37	1	178421598	178421598	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:178421598A>T	ENST00000448150.3	+	11	2584	c.1766A>T	c.(1765-1767)cAg>cTg	p.Q589L	RASAL2_ENST00000462775.1_Missense_Mutation_p.Q459L|RASAL2_ENST00000367649.3_Missense_Mutation_p.Q607L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	459					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGGAAGCAGCAGTGCCTGAAC	0.463000													15	306					0	0	0.024245	0	0
PNPLA3	80339	broad.mit.edu	37	22	44322827	44322827	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr22:44322827A>T	ENST00000216180.3	+	2	373	c.200A>T	c.(199-201)cAg>cTg	p.Q67L	PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Missense_Mutation_p.Q63L	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	67	Patatin.				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CAGACTCTGCAGGTCCTCTCA	0.498000													3	11					0	0	0.009096	0	0
ABCB4	5244	broad.mit.edu	37	7	87060734	87060734	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:87060734G>T	ENST00000265723.4	-	15	1990	c.1879C>A	c.(1879-1881)Ctt>Att	p.L627I	ABCB4_ENST00000545634.1_Missense_Mutation_p.L627I|ABCB4_ENST00000453593.1_Missense_Mutation_p.L627I|ABCB4_ENST00000359206.3_Missense_Mutation_p.L627I|ABCB4_ENST00000358400.3_Missense_Mutation_p.L627I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	627	ABC transporter 1.|Interaction with HAX1 (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ATGTTGACAAGTTTGAAGTAC	0.403000													12	131					0.0167234	0.0173612	0.016723	1	0
SLC22A16	85413	broad.mit.edu	37	6	110746132	110746132	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:110746132T>A	ENST00000368919.3	-	8	1744	c.1678A>T	c.(1678-1680)Agt>Tgt	p.S560C	SLC22A16_ENST00000330550.4_Missense_Mutation_p.S526C	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	560					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TCCAGCCCACTATTATTAGTT	0.448000													10	540					0	0	0.008291	0	0
ZIC1	7545	broad.mit.edu	37	3	147130438	147130438	+	Silent	SNP	G	G	T	rs147993210		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:147130438G>T	ENST00000282928.4	+	2	1845	c.1116G>T	c.(1114-1116)acG>acT	p.T372T		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	372					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGTCCTACACGCATCCCAGTT	0.602000													11	190					2.80697e-09	3.6007e-09	0.010729	1	0
XCL2	6846	broad.mit.edu	37	1	168510326	168510326	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:168510326G>T	ENST00000367819.2	-	3	241	c.209C>A	c.(208-210)gCt>gAt	p.A70D		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	70					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TTGTGGATCAGCACAGACTTT	0.478000													45	177					1.07234e-20	1.51625e-20	0.014410	1	0
OR4C6	219432	broad.mit.edu	37	11	55433325	55433325	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:55433325C>A	ENST00000314259.3	+	1	712	c.683C>A	c.(682-684)tCt>tAt	p.S228Y		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTTACAGCTCTAAAGGGCGG	0.493000													57	452					3.57465e-26	5.1892e-26	0.014410	1	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551026	100551026	+	RNA	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:100551026T>G	ENST00000397112.4	-	0	1901					NR_036632.1															large_intestine(1)|lung(3)	4						TACAGTGCGATGTACTCTCCT	0.622000													3	44					0	0	0.004672	0	0
XIRP2	129446	broad.mit.edu	37	2	168067256	168067256	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:168067256C>T	ENST00000409195.1	+	4	663	c.574C>T	c.(574-576)Cct>Tct	p.P192S	XIRP2_ENST00000409605.1_5'UTR|XIRP2_ENST00000295237.9_Missense_Mutation_p.P192S|XIRP2_ENST00000409043.1_Missense_Mutation_p.P192S|XIRP2_ENST00000409756.2_Missense_Mutation_p.P192S|XIRP2_ENST00000409273.1_5'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.P225S|XIRP2_ENST00000409728.1_Missense_Mutation_p.P225S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	17					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GACTGCTGGCCCTAATAAGCC	0.483000													19	271					0	0	0.014323	0	0
BTBD11	121551	broad.mit.edu	37	12	108034179	108034179	+	Silent	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:108034179A>G	ENST00000280758.5	+	13	3357	c.2829A>G	c.(2827-2829)acA>acG	p.T943T	BTBD11_ENST00000494235.2_Silent_p.T22T|BTBD11_ENST00000357167.4_Silent_p.T480T|BTBD11_ENST00000490090.2_Silent_p.T943T|BTBD11_ENST00000420571.2_Silent_p.T824T	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	943	BTB.					integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGTTATTTACAGCCTCTCCAA	0.363000													5	136					0	0	0.021553	0	0
NEB	4703	broad.mit.edu	37	2	152553214	152553214	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:152553214G>A	ENST00000427231.2	-	17	1708	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	NEB_ENST00000604864.1_Silent_p.F502F|NEB_ENST00000172853.10_Silent_p.F502F|NEB_ENST00000409198.1_Silent_p.F502F|NEB_ENST00000397345.3_Silent_p.F502F|NEB_ENST00000603639.1_Silent_p.F502F	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	502					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAACTTGGGTGAATTTTGTCT	0.458000													20	123					0	0	0.012319	0	0
DDIT4	54541	broad.mit.edu	37	10	74034654	74034654	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:74034654A>G	ENST00000307365.3	+	3	608	c.407A>G	c.(406-408)tAc>tGc	p.Y136C		NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	136					apoptosis					cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CGCCTGGCCTACAGCGAGCCG	0.706000											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	6					0	0	0.004672	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101774323	101774323	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:101774323G>T	ENST00000506729.1	-	7	1445	c.1274C>A	c.(1273-1275)gCa>gAa	p.A425E	SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.A425E|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.A363E|SLCO6A1_ENST00000379810.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	425						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAATCTACCTGCAAGTGTAGT	0.259000													7	46					7.48243e-07	9.02659e-07	0.006214	1	0
CCDC60	160777	broad.mit.edu	37	12	119966424	119966424	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:119966424C>A	ENST00000327554.2	+	12	1699	c.1234C>A	c.(1234-1236)Caa>Aaa	p.Q412K	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	412										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TTGTAGGCGCCAAGAAGAGAG	0.418000													145	651					4.72226e-75	6.95954e-75	0.014410	1	0
TTI2	80185	broad.mit.edu	37	8	33369530	33369530	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:33369530C>A	ENST00000431156.2	-	2	1220	c.602G>T	c.(601-603)gGg>gTg	p.G201V	TTI2_ENST00000360742.5_Missense_Mutation_p.G201V|TTI2_ENST00000520636.1_Missense_Mutation_p.G201V	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	201							binding										CGAAAGTCTCCCTTTCTCATC	0.463000													14	184					6.31663e-08	7.8373e-08	0.024245	1	0
LRTM1	57408	broad.mit.edu	37	3	54962005	54962005	+	Translation_Start_Site	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:54962005C>T	ENST00000273286.5	-	0	96				LRTM1_ENST00000493075.1_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1							integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GAGCAACACACGAAGGGCATG	0.473000													9	194					0	0	0.004482	0	0
PTPDC1	138639	broad.mit.edu	37	9	96827072	96827072	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr9:96827072G>A	ENST00000375360.3	+	2	391	c.51G>A	c.(49-51)gtG>gtA	p.V17V		NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	17							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CTACCTTGGTGAATAACAGCG	0.373000													17	152					0	0	0.010504	0	0
OR4F5	79501	broad.mit.edu	37	1	69516	69516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:69516G>A	ENST00000335137.3	+	1	426	c.426G>A	c.(424-426)tgG>tgA	p.W142*		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGTCACATGGGGAATTGGCT	0.468000													31	203					0	0	0.021022	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366803	40366803	+	Silent	SNP	G	G	A	rs139842575		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:40366803G>A	ENST00000406785.1	-	7	2364	c.2175C>T	c.(2173-2175)gaC>gaT	p.D725D	SLC8A1_ENST00000542756.1_Silent_p.D756D|SLC8A1_ENST00000332839.4_Silent_p.D761D|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.D725D|SLC8A1_ENST00000405901.3_Silent_p.D756D|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.D725D|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.D725D|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.D761D|SLC8A1_ENST00000408028.2_Silent_p.D753D|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.D725D|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	761					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATTCATCGTCGTCATCATCTT	0.502000													13	499					0	0	0.007413	0	0
MFAP3L	9848	broad.mit.edu	37	4	170913210	170913210	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:170913210C>G	ENST00000361618.3	-	3	856	c.549G>C	c.(547-549)gaG>gaC	p.E183D	MFAP3L_ENST00000393704.3_Missense_Mutation_p.E80D|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	183						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TGATGGCCTTCTCAGTCTTCT	0.522000													19	164					0	0	0.014323	0	0
GAPDHS	26330	broad.mit.edu	37	19	36035883	36035883	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:36035883G>A	ENST00000222286.4	+	10	1245	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000588286.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	377					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	TGCGCTCAATGACAATTTCGT	0.522000													5	107					0	0	0.021553	0	0
SNX19	399979	broad.mit.edu	37	11	130785061	130785061	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:130785061G>A	ENST00000265909.4	-	1	1343	c.774C>T	c.(772-774)gaC>gaT	p.D258D	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Silent_p.D258D	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	258	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGTGGATCCAGTCAGGATCTG	0.562000													16	152					0	0	0.028581	0	0
LRIT2	340745	broad.mit.edu	37	10	85981770	85981770	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:85981770G>A	ENST00000372113.4	-	3	1564	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	LRIT2_ENST00000538192.1_Missense_Mutation_p.S530F	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	520						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TTCTCTAAAGGAGCCATCCTT	0.597000													18	166					0	0	0.008871	0	0
DCDC1	341019	broad.mit.edu	37	11	30928187	30928187	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:30928187A>T	ENST00000597505.1	-	28	4003	c.4004T>A	c.(4003-4005)cTg>cAg	p.L1335Q	DCDC1_ENST00000406071.2_Missense_Mutation_p.L70Q|DCDC1_ENST00000339794.5_Missense_Mutation_p.L414Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAATTGTTTCAGTCCTTTCTC	0.463000													7	62					0	0	0.001984	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43896100	43896100	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:43896100G>A	ENST00000389420.3	-	4	721	c.722C>T	c.(721-723)cCa>cTa	p.P241L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P241L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	241						proteinaceous extracellular matrix	zinc ion binding	p.P241L(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATCTTTCAATGGTACATTTTT	0.328000													7	124					0	0	0.001984	0	0
ACAN	176	broad.mit.edu	37	15	89400993	89400993	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:89400993G>T	ENST00000439576.2	+	12	5551	c.5177G>T	c.(5176-5178)aGt>aTt	p.S1726I	ACAN_ENST00000561243.1_Missense_Mutation_p.S1726I|ACAN_ENST00000559004.1_Missense_Mutation_p.S1726I|ACAN_ENST00000352105.7_Missense_Mutation_p.S1726I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1726					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTGATGTCAGTGGGGAAATA	0.547000													7	115					0.00448238	0.00476116	0.004482	1	0
POLA1	5422	broad.mit.edu	37	X	24722559	24722559	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:24722559G>C	ENST00000379068.3	+	4	362	c.319G>C	c.(319-321)Gat>Cat	p.D107H	POLA1_ENST00000379059.3_Missense_Mutation_p.D101H			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	101	Asp-rich.				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TGACCTTGAAGATGATGCCCT	0.378000													25	812					0	0	0.024334	0	0
APOB	338	broad.mit.edu	37	2	21229477	21229477	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:21229477C>A	ENST00000233242.1	-	26	10390	c.10263G>T	c.(10261-10263)atG>atT	p.M3421I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3421	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGACACTTCCATATTTTTCG	0.393000													13	348					7.93312e-07	9.54385e-07	0.020292	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769564	31769564	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:31769564C>A	ENST00000240587.4	-	2	1462	c.1135G>T	c.(1135-1137)Gag>Tag	p.E379*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	379					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)					TTCCGGGCCTCAAAGTGCCAT	0.552000													9	341					1.76689e-08	2.22716e-08	0.006214	1	0
HECTD4	283450	broad.mit.edu	37	12	112701973	112701973	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:112701973T>A	ENST00000550722.1	-	17	2626	c.2231A>T	c.(2230-2232)cAc>cTc	p.H744L	HECTD4_ENST00000377560.5_Missense_Mutation_p.H706L|HECTD4_ENST00000430131.2_Missense_Mutation_p.H456L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		ACTGAGAAGGTGATTCTGAAC	0.418000													3	18					0	0	0.009096	0	0
KCNB1	3745	broad.mit.edu	37	20	48098496	48098496	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr20:48098496T>A	ENST00000371741.4	-	1	688	c.522A>T	c.(520-522)aaA>aaT	p.K174N		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	174					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTCCCAGAGTTTTTTCCTCT	0.582000													24	222					0	0	0.008361	0	0
SLC25A19	60386	broad.mit.edu	37	17	73273565	73273565	+	Splice_Site	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:73273565C>G	ENST00000402418.3	-	5	1553		c.e5-1		SLC25A19_ENST00000320362.3_Splice_Site|SLC25A19_ENST00000416858.2_Splice_Site|SLC25A19_ENST00000580994.1_Splice_Site|SLC25A19_ENST00000442286.2_Splice_Site|SLC25A19_ENST00000375261.4_Splice_Site			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19							integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			TGGAGGTTCTCTGAACCAGAG	0.507000													3	21					0	0	0.014758	0	0
NR1I2	8856	broad.mit.edu	37	3	119531736	119531736	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:119531736C>T	ENST00000393716.2	+	5	2562	c.723C>T	c.(721-723)ccC>ccT	p.P241P	NR1I2_ENST00000466380.1_Silent_p.P204P|NR1I2_ENST00000337940.4_Silent_p.P280P	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	241	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CCCTGCTGCCCCACATGGCTG	0.547000													8	38					0	0	0.004482	0	0
SLC9A6	10479	broad.mit.edu	37	X	135126719	135126719	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:135126719G>T	ENST00000370695.4	+	16	1977	c.1942G>T	c.(1942-1944)Gcc>Tcc	p.A648S	SLC9A6_ENST00000370698.3_Missense_Mutation_p.A616S|SLC9A6_ENST00000370701.1_Missense_Mutation_p.A596S	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	616					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACATCCAGCGCCCCAAGGAG	0.463000													45	121					1.83081e-24	2.63141e-24	0.014410	1	0
SV2C	22987	broad.mit.edu	37	5	75427582	75427582	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:75427582G>C	ENST00000502798.2	+	2	449	c.7G>C	c.(7-9)Gac>Cac	p.D3H	SV2C_ENST00000322285.7_Missense_Mutation_p.D3H	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	3	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TAAGATGGAAGACTCTTACAA	0.453000													17	130					0	0	0.007413	0	0
SPG11	80208	broad.mit.edu	37	15	44900770	44900770	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:44900770T>A	ENST00000261866.7	-	19	3341	c.3325A>T	c.(3325-3327)Aag>Tag	p.K1109*	SPG11_ENST00000427534.2_Nonsense_Mutation_p.K1109*|SPG11_ENST00000535302.2_Nonsense_Mutation_p.K1109*|SPG11_ENST00000558319.1_Nonsense_Mutation_p.K1109*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1109					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCCACTTTCTTCAAACAGTTT	0.393000													4	51					0	0	0.009096	0	0
SHOX	6473	broad.mit.edu	37	X	591812	591812	+	Silent	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:591812G>C	ENST00000381578.1	+	2	871	c.180G>C	c.(178-180)acG>acC	p.T60T	SHOX_ENST00000334060.3_Silent_p.T60T|SHOX_ENST00000554971.1_Silent_p.T60T|SHOX_ENST00000381575.1_Silent_p.T60T	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	60					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGACATCACGGAGGGCGGCG	0.582000													3	7					0	0	0.004672	0	0
CCKAR	886	broad.mit.edu	37	4	26491865	26491865	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:26491865C>G	ENST00000295589.3	-	1	219	c.25G>C	c.(25-27)Gtg>Ctg	p.V9L		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	9					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CTTCCATTCACAAGAAGGCTG	0.522000													4	91					0	0	0.009096	0	0
PSG3	5671	broad.mit.edu	37	19	43233370	43233370	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:43233370T>A	ENST00000327495.5	-	5	1332	c.1148A>T	c.(1147-1149)cAg>cTg	p.Q383L	PSG3_ENST00000595140.1_Missense_Mutation_p.Q383L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	383	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGTAGTAATCTGGGGGATAAA	0.463000													79	335					0	0	0.014410	0	0
C5orf42	65250	broad.mit.edu	37	5	37183732	37183732	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:37183732C>G	ENST00000274258.7	-	26	4781	c.1194G>C	c.(1192-1194)caG>caC	p.Q398H	C5orf42_ENST00000425232.2_Missense_Mutation_p.Q1517H|C5orf42_ENST00000508244.1_Missense_Mutation_p.Q1517H			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1517										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GATTTTCTTTCTGATTACACA	0.289000													6	33					0	0	0.021553	0	0
OR5D14	219436	broad.mit.edu	37	11	55563767	55563767	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:55563767C>T	ENST00000335605.1	+	1	736	c.736C>T	c.(736-738)Cac>Tac	p.H246Y		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CTGGGCCTCCCACCTGACTTC	0.458000													11	66					0	0	0.010729	0	0
KIAA1524	57650	broad.mit.edu	37	3	108278852	108278852	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:108278852C>A	ENST00000295746.8	-	15	1927	c.1851G>T	c.(1849-1851)gtG>gtT	p.V617V	KIAA1524_ENST00000491772.1_Silent_p.V458V	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	617						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGATATTCTCACATCACAAA	0.254000													12	92					5.16669e-11	6.87051e-11	0.010729	1	0
MACF1	23499	broad.mit.edu	37	1	39926448	39926448	+	Missense_Mutation	SNP	G	G	C	rs150495633		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:39926448G>C	ENST00000564288.1	+	92	22282	c.21505G>C	c.(21505-21507)Gat>Cat	p.D7169H	MACF1_ENST00000545844.1_Missense_Mutation_p.D5110H|MACF1_ENST00000567887.1_Missense_Mutation_p.D7206H|MACF1_ENST00000361689.2_Missense_Mutation_p.D5110H|MACF1_ENST00000372915.3_Missense_Mutation_p.D7068H|MACF1_ENST00000317713.7_Missense_Mutation_p.D5110H|MACF1_ENST00000539005.1_Missense_Mutation_p.D4980H|MACF1_ENST00000289893.4_Missense_Mutation_p.D5612H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7068	C-terminal tail (By similarity).|GAR.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAGTTTATCGATGGCATTTT	0.433000													14	109					0	0	0.008871	0	0
RGP1	9827	broad.mit.edu	37	9	35750242	35750242	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr9:35750242A>T	ENST00000378078.4	+	3	260	c.119A>T	c.(118-120)gAg>gTg	p.E40V	RGP1_ENST00000456972.2_Missense_Mutation_p.E80V	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	40										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCCACAGTGAGGCCCTGGCC	0.532000													5	49					0	0	0.014758	0	0
RGAG1	57529	broad.mit.edu	37	X	109697404	109697404	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:109697404G>T	ENST00000465301.2	+	3	3805	c.3559G>T	c.(3559-3561)Gca>Tca	p.A1187S	RGAG1_ENST00000540313.1_Missense_Mutation_p.A1187S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1187								p.A1187T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGAGAGAATGGCATTTCTGGT	0.478000													7	222					0.00448238	0.00476116	0.004482	1	0
ZNF525	170958	broad.mit.edu	37	19	53884796	53884796	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:53884796A>G	ENST00000467003.1	+	4	1057	c.856A>G	c.(856-858)Act>Gct	p.T286A	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.T322A|ZNF525_ENST00000355326.3_Missense_Mutation_p.T40A|ZNF525_ENST00000593918.1_Intron					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						GAGAATTCATACTGGAGAGAA	0.398000													5	63					0	0	0.001984	0	0
GSS	2937	broad.mit.edu	37	20	33539581	33539581	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr20:33539581C>T	ENST00000216951.2	-	2	173	c.75G>A	c.(73-75)cgG>cgA	p.R25R	GSS_ENST00000451957.2_Silent_p.R25R	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	25					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CAGCCAGGGCCCGGTCCACGG	0.612000													5	30					0	0	0.014758	0	0
GK2	2712	broad.mit.edu	37	4	80328737	80328737	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:80328737C>A	ENST00000358842.3	-	1	635	c.618G>T	c.(616-618)atG>atT	p.M206I		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	206					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TATTAAAAAGCATTGTCCTAC	0.383000													8	293					0.000274275	0.00030355	0.004482	1	0
CNTN1	1272	broad.mit.edu	37	12	41421699	41421699	+	Silent	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:41421699T>A	ENST00000551295.2	+	22	2868	c.2751T>A	c.(2749-2751)tcT>tcA	p.S917S	CNTN1_ENST00000347616.1_Silent_p.S917S|CNTN1_ENST00000348761.2_Silent_p.S906S|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	917	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAGTAAGGTCTGGTTCACGCT	0.388000													7	172					0	0	0.004482	0	0
CCER1	196477	broad.mit.edu	37	12	91348303	91348303	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:91348303G>T	ENST00000358859.2	-	1	650	c.217C>A	c.(217-219)Ccg>Acg	p.P73T	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CAAAAGCCCGGGCCGTGCTGT	0.647000													8	21					0.000442599	0.000487363	0.006214	1	0
ATR	545	broad.mit.edu	37	3	142176508	142176508	+	Silent	SNP	A	A	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:142176508A>C	ENST00000350721.4	-	45	7714	c.7593T>G	c.(7591-7593)ctT>ctG	p.L2531L	ATR_ENST00000383101.3_Silent_p.L2467L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2531	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTCTTCGAAAAAGACCCTCTG	0.398000								Other conserved DNA damage response genes					4	159					0	0	0.021553	0	0
ZBED4	9889	broad.mit.edu	37	22	50277373	50277373	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr22:50277373G>C	ENST00000216268.4	+	2	540	c.63G>C	c.(61-63)aaG>aaC	p.K21N		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	21						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ATAAAATAAAGTTTAAAATAG	0.398000													4	50					0	0	0.009096	0	0
PTPRM	5797	broad.mit.edu	37	18	8394505	8394505	+	Missense_Mutation	SNP	G	G	T	rs142178302	by1000genomes	TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr18:8394505G>T	ENST00000332175.8	+	30	5238	c.4201G>T	c.(4201-4203)Gcc>Tcc	p.A1401S	PTPRM_ENST00000400053.4_Missense_Mutation_p.A1339S|PTPRM_ENST00000444013.1_Missense_Mutation_p.A1188S|PTPRM_ENST00000580170.1_Missense_Mutation_p.A1414S|PTPRM_ENST00000400060.4_Missense_Mutation_p.A1415S	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1401	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	p.A1401T(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GACGTTCTGCGCCATCAGCAT	0.537000													10	39					7.48243e-07	9.02659e-07	0.006214	1	0
PDILT	204474	broad.mit.edu	37	16	20370859	20370859	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:20370859C>G	ENST00000302451.4	-	12	1785	c.1537G>C	c.(1537-1539)Gaa>Caa	p.E513Q		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	513					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACTTCCTCTTCTATCACTTCA	0.463000													19	229					0	0	0.006122	0	0
NME8	51314	broad.mit.edu	37	7	37907439	37907439	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:37907439G>C	ENST00000199447.4	+	11	1129	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.E253Q	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	253	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CGAACGATCTGAGGATCAACC	0.443000													9	87					0	0	0.004482	0	0
CAPN11	11131	broad.mit.edu	37	6	44148513	44148513	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:44148513A>G	ENST00000542245.1	+	17	1813	c.1775A>G	c.(1774-1776)cAg>cGg	p.Q592R	CAPN11_ENST00000398776.1_Missense_Mutation_p.Q592R			Q9UMQ6	CAN11_HUMAN	calpain 11	592	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TATGAGCTCCAGAGGCTGCTC	0.602000													8	62					0	0	0.004482	0	0
TMCO4	255104	broad.mit.edu	37	1	20009735	20009735	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:20009735C>T	ENST00000294543.6	-	16	1944	c.1703G>A	c.(1702-1704)gGa>gAa	p.G568E	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.G528E|TMCO4_ENST00000375127.1_Intron	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	568						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGAGGTGTCTCCGGATATGGG	0.667000													9	56					0	0	0.006214	0	0
PHYHIP	9796	broad.mit.edu	37	8	22084444	22084444	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:22084444G>A	ENST00000454243.2	-	3	834	c.260C>T	c.(259-261)gCc>gTc	p.A87V	PHYHIP_ENST00000321613.3_Missense_Mutation_p.A87V	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	87	Fibronectin type-III.									endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		CGTCTGCACGGCCACACTGTA	0.652000													8	40					0	0	0.008291	0	0
TMC4	147798	broad.mit.edu	37	19	54675826	54675826	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:54675826C>G	ENST00000376591.4	-	2	255	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	TMC4_ENST00000301187.4_Missense_Mutation_p.E36Q	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	42						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGGGCAGCTCGTTCAGCACA	0.652000													4	75					0	0	0.009096	0	0
AMOT	154796	broad.mit.edu	37	X	112024289	112024289	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:112024289C>A	ENST00000371959.3	-	9	2297	c.2298G>T	c.(2296-2298)caG>caT	p.Q766H	AMOT_ENST00000371962.1_Missense_Mutation_p.Q534H|AMOT_ENST00000371958.1_Missense_Mutation_p.Q534H|AMOT_ENST00000304758.1_Missense_Mutation_p.Q357H|AMOT_ENST00000524145.1_Missense_Mutation_p.Q766H	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	766					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGGAACGCTGCTGGAGTACTT	0.512000													11	652					1.58986e-06	1.90478e-06	0.008291	1	0
TTN	7273	broad.mit.edu	37	2	179611114	179611114	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:179611114G>T	ENST00000360870.5	-	46	16235	c.16013C>A	c.(16012-16014)cCt>cAt	p.P5338H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8847	Ig-like 34.						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)			TTTATGGTCAGGAGTAAATTC	0.348000													16	98					2.48551e-13	3.34602e-13	0.004990	1	0
TRHDE	29953	broad.mit.edu	37	12	72956678	72956678	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:72956678G>C	ENST00000261180.4	+	9	1861	c.1765G>C	c.(1765-1767)Gat>Cat	p.D589H	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	589					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGAAGTAATGGATCAGTGGAC	0.303000													9	174					0	0	0.010729	0	0
HLF	3131	broad.mit.edu	37	17	53398040	53398040	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:53398040G>T	ENST00000226067.5	+	4	1161	c.688G>T	c.(688-690)Gca>Tca	p.A230S	HLF_ENST00000573945.1_Missense_Mutation_p.A145S|HLF_ENST00000575345.1_Missense_Mutation_p.A145S|HLF_ENST00000575307.1_3'UTR|HLF_ENST00000430986.2_Missense_Mutation_p.A145S	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	230					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						CAAGTACTGGGCAAGGCGCAG	0.557000			T	TCF3	ALL								10	63					7.48243e-07	9.02659e-07	0.006214	1	0
USP18	11274	broad.mit.edu	37	22	18642967	18642967	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr22:18642967G>C	ENST00000215794.7	+	3	616	c.186G>C	c.(184-186)caG>caC	p.Q62H		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	62					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						ACATTGGACAGACCTGCTGCC	0.463000													10	84					0	0	0.010729	0	0
KIAA1109	84162	broad.mit.edu	37	4	123222457	123222457	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:123222457G>T	ENST00000264501.4	+	55	9764	c.9391G>T	c.(9391-9393)Ggg>Tgg	p.G3131W	KIAA1109_ENST00000388738.3_Missense_Mutation_p.G3131W|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G3131W			Q2LD37	K1109_HUMAN	KIAA1109	3131					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						TCCTTTAGGTGGGGAGCAGCC	0.333000													8	36					3.86212e-05	4.3858e-05	0.008291	1	0
AKR1E2	83592	broad.mit.edu	37	10	4889419	4889419	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:4889419C>T	ENST00000298375.7	+	9	988	c.917C>T	c.(916-918)cCc>cTc	p.P306L	AKR1E2_ENST00000345253.5_Missense_Mutation_p.P208L|AKR1E2_ENST00000334019.4_Missense_Mutation_p.P249L|AKR1E2_ENST00000532248.1_Missense_Mutation_p.P249L	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	306						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						GCCATGTTCCCCATGTAAATA	0.358000													17	267					0	0	0.012319	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89986919	89986919	+	RNA	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:89986919A>T	ENST00000491977.1	+	0	230																											AAGCCAGGCCAGCCTCCACAG	0.532000													6	32					0	0	0.001984	0	0
MIR30B	407030	broad.mit.edu	37	8	135812831	135812831	+	RNA	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:135812831T>C	ENST00000384850.1	-	0	19					NR_029666.1																						GTAGGATGTTTACATGAACTG	0.373000													2	7					0	0	0.004672	0	0
RDH16	8608	broad.mit.edu	37	12	57351181	57351181	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:57351181C>T	ENST00000398138.3	-	1	922	c.66G>A	c.(64-66)caG>caA	p.Q22Q	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	22					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						GGCTCAGCACCTGCCTCTCCC	0.587000													24	100					0	0	0.027356	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752678	62752678	+	RNA	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:62752678G>A	ENST00000331425.6	-	0	757					NR_003952.1																						TCTCCAGTATGAATTCTCTTA	0.428000													5	103					0	0	0.021553	0	0
KIF5C	3800	broad.mit.edu	37	2	149840214	149840214	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:149840214C>T	ENST00000435030.1	+	15	2018	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	KIF5C_ENST00000414838.2_Silent_p.I455I|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.I318I			O60282	KIF5C_HUMAN	kinesin family member 5C	550					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.I453I(1)|p.I550I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CAACTGAGATCCTGAATTTGC	0.438000													6	118					0	0	0.021553	0	0
FER	2241	broad.mit.edu	37	5	108134022	108134022	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:108134022C>T	ENST00000281092.4	+	3	523	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	FER_ENST00000438717.2_5'UTR|FER_ENST00000502752.1_3'UTR|FER_ENST00000536402.1_Nonsense_Mutation_p.Q47*	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	47	FCH.|Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ATCTACTTTACAGAACCTTTG	0.318000													4	81					0	0	0.009096	0	0
TTBK1	84630	broad.mit.edu	37	6	43251485	43251485	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:43251485C>A	ENST00000259750.4	+	14	3090	c.3007C>A	c.(3007-3009)Cgg>Agg	p.R1003R		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1003						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.R1003G(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGGGGCCCCCCGGGAAACCCC	0.697000													15	76					8.00594e-06	9.32242e-06	0.007413	1	0
EPHA3	2042	broad.mit.edu	37	3	89259568	89259568	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:89259568G>T	ENST00000336596.2	+	3	937	c.712G>T	c.(712-714)Gat>Tat	p.D238Y	EPHA3_ENST00000452448.2_Missense_Mutation_p.D238Y|EPHA3_ENST00000494014.1_Missense_Mutation_p.D238Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	238	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TAAGGAGGAAGATCCTCCAAG	0.483000										TSP Lung(6;0.00050)			32	708					3.62531e-18	5.06032e-18	0.019004	1	0
KCNJ8	3764	broad.mit.edu	37	12	21926239	21926239	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:21926239G>A	ENST00000240662.2	-	2	657	c.312C>T	c.(310-312)taC>taT	p.Y104Y		NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	104						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TTTTCTCCATGTAAGCATAGA	0.498000											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	324	375					0	0	0.014410	0	0
CUX2	23316	broad.mit.edu	37	12	111786100	111786100	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:111786100C>A	ENST00000261726.6	+	22	4586	c.4432C>A	c.(4432-4434)Cgg>Agg	p.R1478R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1478						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGCTGCCAATCGGGAGGAGGC	0.572000													5	46					0.00307968	0.00328323	0.003080	1	0
SPATA13	221178	broad.mit.edu	37	13	24852922	24852922	+	Silent	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:24852922T>C	ENST00000343003.6	+	2	299	c.84T>C	c.(82-84)taT>taC	p.Y28Y	SPATA13_ENST00000424834.2_Intron|SPATA13_ENST00000409126.1_Intron|SPATA13_ENST00000382095.4_Intron|SPATA13_ENST00000382108.3_Intron|SPATA13_ENST00000399949.2_Intron			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	0					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		AAGAAAAATATAGAAAAGAAA	0.363000													5	49					0	0	0.001984	0	0
CALCR	799	broad.mit.edu	37	7	93091394	93091394	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:93091394A>T	ENST00000359558.2	-	9	903	c.604T>A	c.(604-606)Tgg>Agg	p.W202R	CALCR_ENST00000426151.1_Intron|CALCR_ENST00000421592.1_Missense_Mutation_p.W184R|CALCR_ENST00000360249.4_Missense_Mutation_p.W184R|CALCR_ENST00000394441.1_Intron	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	184					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CTATATTTCCAATTCAAAGGA	0.284000													4	12					0	0	0.009096	0	0
OR2J2	26707	broad.mit.edu	37	6	29141926	29141926	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:29141926C>T	ENST00000377167.2	+	1	616	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CCTTTGTGGACATCGCCTAGT	0.478000													139	479					0	0	0.014410	0	0
APOB	338	broad.mit.edu	37	2	21237343	21237343	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:21237343G>T	ENST00000233242.1	-	24	3946	c.3819C>A	c.(3817-3819)atC>atA	p.I1273I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1273					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGTTTTCTGGGATGTGGAAGT	0.413000													5	232					3.59834e-05	4.09158e-05	0.021553	1	0
SLC5A6	8884	broad.mit.edu	37	2	27426162	27426162	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:27426162C>T	ENST00000310574.3	-	11	1619	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L	SLC5A6_ENST00000461319.1_5'UTR|SLC5A6_ENST00000408041.1_Silent_p.L382L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	382					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AAGGTCGAATCAGGTCTTCCA	0.483000													10	177					0	0	0.010729	0	0
ATP8A2	51761	broad.mit.edu	37	13	26125603	26125603	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:26125603G>T	ENST00000381655.2	+	11	1161	c.1019G>T	c.(1018-1020)aGg>aTg	p.R340M	ATP8A2_ENST00000255283.8_Missense_Mutation_p.R300M	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	300					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TACTGGAACAGGTCTCATGGT	0.493000													5	160					8.12818e-05	9.14683e-05	0.001984	1	0
JMJD1C	221037	broad.mit.edu	37	10	64953137	64953137	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:64953137C>T	ENST00000399262.2	-	15	6048	c.5830G>A	c.(5830-5832)Gga>Aga	p.G1944R	JMJD1C_ENST00000542921.1_Missense_Mutation_p.G1762R|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Missense_Mutation_p.G1725R	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1944					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGAAAATTTCCAACTTGTAAA	0.303000													4	38					0	0	0.009096	0	0
HOXA5	3202	broad.mit.edu	37	7	27182784	27182784	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:27182784C>T	ENST00000222726.3	-	1	503	c.443G>A	c.(442-444)gGa>gAa	p.G148E	HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	148					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CTCCTCGGCTCCGGACGCCGT	0.721000													6	79					0	0	0.021553	0	0
PDHA2	5161	broad.mit.edu	37	4	96761628	96761628	+	Silent	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:96761628G>C	ENST00000295266.4	+	1	390	c.327G>C	c.(325-327)tcG>tcC	p.S109S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	109					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TAAACCCCTCGGATCACGTCA	0.522000													43	188					0	0	0.014410	0	0
UGGT2	55757	broad.mit.edu	37	13	96505871	96505871	+	Nonsense_Mutation	SNP	C	C	A	rs143548603		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:96505871C>A	ENST00000376747.3	-	36	4280	c.4210G>T	c.(4210-4212)Gga>Tga	p.G1404*		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1404	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCACCTGCTCCAATTCTCCTG	0.358000													28	118					8.4185e-14	1.14392e-13	0.012213	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57068420	57068420	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:57068420G>A	ENST00000532437.1	-	9	5378	c.5067C>T	c.(5065-5067)tcC>tcT	p.S1689S	TNKS1BP1_ENST00000358252.3_Silent_p.S1689S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1689	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGACCTTGCAGGATTTCGAAC	0.612000													12	503					0	0	0.013537	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421077	134421077	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:134421077G>A	ENST00000370766.3	-	7	4234	c.1525C>T	c.(1525-1527)Cca>Tca	p.P509S	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.P414S	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	509					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CCTCAGTTTGGAGACACTAGA	0.403000													9	471					0	0	0.010729	0	0
EPHB6	2051	broad.mit.edu	37	7	142562270	142562270	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:142562270T>A	ENST00000392957.2	+	7	1499	c.712T>A	c.(712-714)Tcc>Acc	p.S238T	EPHB6_ENST00000442129.1_Missense_Mutation_p.S238T|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	238	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CGTGCTCCGATCCTTTGCTTC	0.667000													7	110					0	0	0.016723	0	0
ANO2	57101	broad.mit.edu	37	12	6030514	6030514	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:6030514C>T	ENST00000546188.1	-	3	285	c.214G>A	c.(214-216)Gat>Aat	p.D72N	ANO2_ENST00000356134.5_Missense_Mutation_p.D72N|ANO2_ENST00000327087.8_Missense_Mutation_p.D72N			Q9NQ90	ANO2_HUMAN	anoctamin 2	76						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCATTGGCATCCAGATAGTTG	0.547000													10	147					0	0	0.013537	0	0
ZNF287	57336	broad.mit.edu	37	17	16456322	16456322	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:16456322C>T	ENST00000395824.1	-	6	1751	c.1134G>A	c.(1132-1134)agG>agA	p.R378R	ZNF287_ENST00000395825.3_Silent_p.R378R			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	371					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ATGGGTATTTCCTAAATTTTT	0.403000													9	343					0	0	0.006214	0	0
TSPYL1	7259	broad.mit.edu	37	6	116600644	116600644	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:116600644G>A	ENST00000368608.3	-	1	422	c.350C>T	c.(349-351)gCc>gTc	p.A117V	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	117					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		GCTGCGGTCGGCTGCCATCAC	0.662000													3	37					0	0	0.004672	0	0
DNASE1	1773	broad.mit.edu	37	16	3706127	3706127	+	Nonsense_Mutation	SNP	C	C	A	rs140382618		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:3706127C>A	ENST00000246949.5	+	4	3470	c.261C>A	c.(259-261)taC>taA	p.Y87*	DNASE1_ENST00000414110.2_Missense_Mutation_p.T8K|DNASE1_ENST00000407479.1_Nonsense_Mutation_p.Y87*	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	87					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	CCTATCACTACGTGGTCAGTG	0.592000													12	36					1.37522e-17	1.91651e-17	0.007413	1	0
MXRA5	25878	broad.mit.edu	37	X	3242302	3242302	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:3242302C>A	ENST00000217939.6	-	5	1578	c.1424G>T	c.(1423-1425)aGc>aTc	p.S475I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	475						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATTACCCAGCTTCTGCCCCG	0.507000													5	253					0.000602214	0.000657304	0.014758	1	0
NRDE2	55051	broad.mit.edu	37	14	90783007	90783007	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:90783007T>G	ENST00000354366.3	-	3	554	c.322A>C	c.(322-324)Agc>Cgc	p.S108R	NRDE2_ENST00000357904.3_Intron|NRDE2_ENST00000557106.1_5'UTR	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TCAGACCTGCTGCTACTCGAC	0.433000													40	238					0	0	0.010771	0	0
GABRA4	2557	broad.mit.edu	37	4	46930674	46930674	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:46930674G>T	ENST00000264318.3	-	9	2215	c.1233C>A	c.(1231-1233)agC>agA	p.S411R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	411					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGAAGATTTGCTTGAATGGT	0.418000													11	160					3.07112e-06	3.63443e-06	0.010729	1	0
MARCH4	57574	broad.mit.edu	37	2	217124304	217124304	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:217124304C>G	ENST00000273067.4	-	4	2730	c.964G>C	c.(964-966)Gac>Cac	p.D322H		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	322						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TCCTCCAGGTCTTTTGTCTTG	0.567000													3	56					0	0	0.004672	0	0
CELF1	10658	broad.mit.edu	37	11	47498401	47498401	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:47498401C>A	ENST00000395290.2	-	9	1006	c.997G>T	c.(997-999)Gca>Tca	p.A333S	CELF1_ENST00000532048.1_Missense_Mutation_p.A360S|CELF1_ENST00000531165.1_Missense_Mutation_p.A362S|CELF1_ENST00000361904.3_Missense_Mutation_p.A331S|CELF1_ENST00000395292.2_Missense_Mutation_p.A331S|CELF1_ENST00000358597.3_Missense_Mutation_p.A334S|CELF1_ENST00000310513.5_Missense_Mutation_p.A330S	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	334					embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CCCTTACCTGCCAAAGAGCCA	0.537000													7	65					0.000157383	0.000175071	0.003080	1	0
DSE	29940	broad.mit.edu	37	6	116757364	116757364	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:116757364G>C	ENST00000331677.3	+	7	2177	c.1733G>C	c.(1732-1734)aGt>aCt	p.S578T	DSE_ENST00000537543.1_Missense_Mutation_p.S597T|DSE_ENST00000359564.2_Missense_Mutation_p.S578T|DSE_ENST00000452085.3_Missense_Mutation_p.S578T			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	578					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GGAGAGGAGAGTCCCTTGGAG	0.493000													6	48					0	0	0.003080	0	0
INPP5D	3635	broad.mit.edu	37	2	234072513	234072513	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:234072513C>G	ENST00000359570.5	+	14	1365	c.1365C>G	c.(1363-1365)caC>caG	p.H455Q	INPP5D_ENST00000450745.1_Missense_Mutation_p.H219Q|INPP5D_ENST00000455936.2_Missense_Mutation_p.H219Q|INPP5D_ENST00000538935.1_Missense_Mutation_p.H454Q			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	467					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCTCAAACACTCCCTGCAAG	0.562000													3	111					0	0	0.004672	0	0
ZBTB38	253461	broad.mit.edu	37	3	141162101	141162101	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:141162101G>A	ENST00000514251.1	+	4	1150	c.871G>A	c.(871-873)Gag>Aag	p.E291K	ZBTB38_ENST00000321464.5_Missense_Mutation_p.E292K|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E291K			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	291					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ATCCAACTTAGAGGTTAATCA	0.438000													19	285					0	0	0.027894	0	0
ANO5	203859	broad.mit.edu	37	11	22272495	22272495	+	Splice_Site	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:22272495A>T	ENST00000324559.8	+	12	1436		c.e12-1			NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5							chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTATTTTTACAGTTCTCCCAT	0.303000													9	75					0	0	0.006214	0	0
DACH1	1602	broad.mit.edu	37	13	72063200	72063200	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:72063200G>A	ENST00000305425.4	-	7	2079	c.1657C>T	c.(1657-1659)Cca>Tca	p.P553S	DACH1_ENST00000354591.4_Missense_Mutation_p.P351S|DACH1_ENST00000359684.2_Missense_Mutation_p.P605S|DACH1_ENST00000313174.7_Missense_Mutation_p.P405S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	603					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GGAAAACCTGGAGGCAGTGGT	0.463000													124	624					0	0	0.014410	0	0
WDR88	126248	broad.mit.edu	37	19	33628603	33628603	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:33628603T>A	ENST00000361680.2	+	2	375	c.297T>A	c.(295-297)agT>agA	p.S99R	WDR88_ENST00000355868.3_Missense_Mutation_p.S99R|WDR88_ENST00000592765.1_Missense_Mutation_p.S99R			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	99										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AAATTCTGAGTGGGCACGAGC	0.453000													22	43					0	0	0.012319	0	0
OR4K15	81127	broad.mit.edu	37	14	20444038	20444038	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:20444038T>A	ENST00000305051.5	+	1	436	c.361T>A	c.(361-363)Tgc>Agc	p.C121S		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTTGATGCCTGCCTGGCCCA	0.433000													10	383					0	0	0.013537	0	0
NLRP11	204801	broad.mit.edu	37	19	56321474	56321474	+	Silent	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:56321474A>G	ENST00000443188.1	-	5	1212	c.502T>C	c.(502-504)Ttg>Ctg	p.L168L	NLRP11_ENST00000592953.1_Silent_p.L69L|NLRP11_ENST00000589824.2_Silent_p.L168L|NLRP11_ENST00000589093.1_Silent_p.L168L|NLRP11_ENST00000360133.3_Silent_p.L168L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	168	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATCCACCTCAACACAGCCAGA	0.443000													7	58					0	0	0.004482	0	0
ZCCHC17	51538	broad.mit.edu	37	1	31810024	31810024	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:31810024C>G	ENST00000373714.1	+	4	388	c.127C>G	c.(127-129)Ctg>Gtg	p.L43V	ZCCHC17_ENST00000422613.2_Missense_Mutation_p.L19V|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.L43V|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.L35V|RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000479629.1_3'UTR			Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	43	S1 motif.					nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		GTGCCCAGGTCTGGTCCATCG	0.448000													14	170					0	0	0.020292	0	0
TGFBI	7045	broad.mit.edu	37	5	135391445	135391445	+	Missense_Mutation	SNP	G	G	T	rs114295767	by1000genomes	TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:135391445G>T	ENST00000442011.2	+	11	1648	c.1487G>T	c.(1486-1488)cGg>cTg	p.R496L	TGFBI_ENST00000305126.8_Missense_Mutation_p.R496L	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	496	FAS1 3.		R -> G (in dbSNP:rs10057190).		angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACGATGGACCGGGTGCTGACC	0.582000													3	28					0.004672	0.0049325	0.004672	1	0
MPL	4352	broad.mit.edu	37	1	43804244	43804244	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:43804244C>T	ENST00000372470.3	+	3	286	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	MPL_ENST00000413998.2_Nonsense_Mutation_p.Q82*	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	82					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTGAGTTCCCAGAGCATGCC	0.597000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						13	223					0	0	0.024245	0	0
CDH6	1004	broad.mit.edu	37	5	31317544	31317544	+	Silent	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:31317544T>C	ENST00000265071.2	+	10	1840	c.1575T>C	c.(1573-1575)ttT>ttC	p.F525F	CDH6_ENST00000514738.1_Silent_p.F470F	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	525	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AATTTTCGTTTTCCTTGGCCC	0.403000													10	263					0	0	0.006214	0	0
LRRC7	57554	broad.mit.edu	37	1	70257735	70257735	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:70257735A>C	ENST00000310961.5	+	5	632	c.214A>C	c.(214-216)Aac>Cac	p.N72H	LRRC7_ENST00000035383.5_Missense_Mutation_p.N67H|LRRC7_ENST00000370958.1_Missense_Mutation_p.N105H|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	67						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCAATTGTTCAACTGTCAAGC	0.299000													4	143					0	0	0.014758	0	0
NLRP7	199713	broad.mit.edu	37	19	55452864	55452864	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:55452864C>T	ENST00000446217.1	-	4	702	c.300G>A	c.(298-300)gtG>gtA	p.V100V	NLRP7_ENST00000592784.1_Silent_p.V72V|NLRP7_ENST00000590030.1_Silent_p.V72V|NLRP7_ENST00000588756.1_Silent_p.V72V|NLRP7_ENST00000340844.2_Silent_p.V72V|NLRP7_ENST00000328092.5_Silent_p.V72V|NLRP7_ENST00000448121.2_Silent_p.V72V			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	72							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCAAGATGTTCACAGTCGCAT	0.448000													13	64					0	0	0.016723	0	0
DOCK2	1794	broad.mit.edu	37	5	169188529	169188529	+	Silent	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:169188529C>G	ENST00000256935.8	+	25	2534	c.2454C>G	c.(2452-2454)ctC>ctG	p.L818L	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.L310L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	818					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAGCCAACTCCTGTATGAGT	0.488000													9	506					0	0	0.008291	0	0
WNK4	65266	broad.mit.edu	37	17	40948532	40948532	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:40948532G>C	ENST00000246914.5	+	18	3686	c.3665G>C	c.(3664-3666)aGc>aCc	p.1222_1222insT		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	0					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGTGGCAGCAGCACCGGCTCC	0.637000													6	31					0	0	0.013537	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507414	74507414	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:74507414C>A	ENST00000354431.4	-	7	1392	c.1201G>T	c.(1201-1203)Gag>Tag	p.E401*	LRRIQ3_ENST00000395089.1_Nonsense_Mutation_p.E401*	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	401										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ATACTCCGCTCCAATCGTATG	0.358000													28	261					1.77063e-15	2.42869e-15	0.027356	1	0
ICOS	29851	broad.mit.edu	37	2	204820546	204820546	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:204820546C>G	ENST00000316386.6	+	2	313	c.246C>G	c.(244-246)ttC>ttG	p.F82L	ICOS_ENST00000435193.1_Missense_Mutation_p.F82L	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	82	Ig-like V-type.				immune response|T cell costimulation	extracellular region				breast(1)|large_intestine(1)|lung(4)	6						GTCTGAAATTCTGCCATTCTC	0.383000													16	235					0	0	0.028581	0	0
KMT2C	58508	broad.mit.edu	37	7	151850040	151850040	+	Splice_Site	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:151850040C>G	ENST00000355193.2	-	50	12666		c.e50-1		KMT2C_ENST00000262189.6_Splice_Site|KMT2C_ENST00000485241.1_Splice_Site					lysine (K)-specific methyltransferase 2C																		TGCTAATGTTCTAAAACCAAA	0.423000													9	138					0	0	0.010729	0	0
BCCIP	56647	broad.mit.edu	37	10	127519173	127519173	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:127519173G>A	ENST00000299130.3	+	4	376	c.364G>A	c.(364-366)Gat>Aat	p.D122N	BCCIP_ENST00000278100.6_Missense_Mutation_p.D122N|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Missense_Mutation_p.D122N	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	122	Interaction with BRCA2.				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TATGGATGAAGATGAGGTTTT	0.299000													6	238					0	0	0.008291	0	0
MROH9	80133	broad.mit.edu	37	1	170959011	170959011	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:170959011G>A	ENST00000367759.4	+	11	1049	c.895G>A	c.(895-897)Gat>Aat	p.D299N	MROH9_ENST00000367758.3_Missense_Mutation_p.D299N	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TAAGATCGTGGATGCTATTTA	0.403000													6	333					0	0	0.001984	0	0
GAB4	128954	broad.mit.edu	37	22	17469039	17469039	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr22:17469039G>T	ENST00000400588.1	-	3	604	c.497C>A	c.(496-498)tCc>tAc	p.S166Y	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	166										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				ACTGGCTGAGGAAATGTTTCC	0.557000													10	73					3.07112e-06	3.63443e-06	0.010729	1	0
NXF4	55999	broad.mit.edu	37	X	101826397	101826397	+	RNA	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:101826397G>T	ENST00000360035.2	+	0	3391					NR_002216.1															endometrium(2)|lung(8)	10						CCCCTAAAAGGAGCCCTTCGA	0.512000													10	45					1.61879e-10	2.12344e-10	0.013537	1	0
SLC27A6	28965	broad.mit.edu	37	5	128365350	128365350	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:128365350G>T	ENST00000262462.4	+	9	2643	c.1633G>T	c.(1633-1635)Gtt>Ttt	p.V545F	SLC27A6_ENST00000395266.1_Missense_Mutation_p.V545F|SLC27A6_ENST00000506176.1_Missense_Mutation_p.V545F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	545					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTATGAACAAGTTGTAACATT	0.303000													10	105					6.40141e-05	7.25049e-05	0.010729	1	0
GAD2	2572	broad.mit.edu	37	10	26559583	26559583	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:26559583C>T	ENST00000376261.3	+	10	1493	c.990C>T	c.(988-990)ttC>ttT	p.F330F	GAD2_ENST00000259271.3_Silent_p.F330F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	330					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.F330L(1)|p.F330F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TTGTTCCTTTCCTCGTGAGTG	0.463000													6	231					0	0	0.003080	0	0
AMPH	273	broad.mit.edu	37	7	38457456	38457456	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:38457456G>C	ENST00000356264.2	-	17	1582	c.1367C>G	c.(1366-1368)aCt>aGt	p.T456S	AMPH_ENST00000428293.2_Intron|AMPH_ENST00000325590.5_Intron|AMPH_ENST00000471913.1_Intron	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	456					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTCAGCCCGAGTGTCCATTCC	0.592000													9	129					0	0	0.024245	0	0
KLHL41	10324	broad.mit.edu	37	2	170367347	170367347	+	Silent	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:170367347A>T	ENST00000284669.1	+	1	1136	c.1059A>T	c.(1057-1059)ctA>ctT	p.L353L	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41																		TAGGAGGACTATATGTGGATG	0.403000													10	109					0	0	0.008291	0	0
FLG2	388698	broad.mit.edu	37	1	152328575	152328575	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:152328575C>G	ENST00000388718.5	-	3	1759	c.1687G>C	c.(1687-1689)Gag>Cag	p.E563Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	563	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGATGTCTCTCTAGACCCA	0.498000													36	509					0	0	0.019004	0	0
ESX1	80712	broad.mit.edu	37	X	103495005	103495005	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:103495005C>T	ENST00000372588.4	-	4	1208	c.1125G>A	c.(1123-1125)ctG>ctA	p.L375L		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	375	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						ACCTGGGTGGCAGAGGCGCCA	0.657000													8	41					0	0	0.004482	0	0
SI	6476	broad.mit.edu	37	3	164785153	164785153	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:164785153T>C	ENST00000264382.3	-	6	672	c.610A>G	c.(610-612)Att>Gtt	p.I204V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	204	Isomaltase.				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)	CTTTTCCTAATAACTTGGATG	0.308000										HNSCC(35;0.089)			13	87					0	0	0.020292	0	0
CDK18	5129	broad.mit.edu	37	1	205498165	205498165	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:205498165G>A	ENST00000360066.2	+	11	1314	c.1013G>A	c.(1012-1014)aGg>aAg	p.R338K	CDK18_ENST00000429964.2_Missense_Mutation_p.R338K|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Missense_Mutation_p.R368K	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	336	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GCCACAGGGAGGCCCCTCTTC	0.682000											OREG0014157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	10					0	0	0.024245	0	0
CUBN	8029	broad.mit.edu	37	10	16957929	16957929	+	Silent	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:16957929G>C	ENST00000377833.4	-	46	7166	c.7101C>G	c.(7099-7101)ctC>ctG	p.L2367L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2367	CUB 17.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGAGCCCCTGGAGATGCCACT	0.463000													5	245					0	0	0.014758	0	0
FSHR	2492	broad.mit.edu	37	2	49190825	49190825	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:49190825C>A	ENST00000406846.2	-	10	1254	c.1135G>T	c.(1135-1137)Ggg>Tgg	p.G379W	FSHR_ENST00000346173.3_Missense_Mutation_p.G317W|FSHR_ENST00000304421.4_Missense_Mutation_p.G353W|FSHR_ENST00000541117.1_Missense_Mutation_p.G115W	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	379					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)	ATGATGTTCCCAGTGATGGCC	0.478000									Gonadal Dysgenesis, 46 XX				6	157					0.00116845	0.00125644	0.021553	1	0
SLC26A11	284129	broad.mit.edu	37	17	78225181	78225181	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:78225181C>T	ENST00000361193.3	+	17	1990	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	SLC26A11_ENST00000411502.3_Silent_p.F570F|SLC26A11_ENST00000546047.2_Silent_p.F570F|SLC26A11_ENST00000572725.1_Silent_p.F570F	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	570	STAS.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCCAGTACTTCTCTACCCTGG	0.488000													11	65					0	0	0.008291	0	0
GALNTL6	442117	broad.mit.edu	37	4	173232803	173232803	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:173232803G>A	ENST00000506823.1	+	4	943	c.286G>A	c.(286-288)Gag>Aag	p.E96K	GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Missense_Mutation_p.E79K	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	96						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CCTTACTGAAGAGGACCATGA	0.388000													56	328					0	0	0.014410	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													3	55					0	0	0.014758	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44031851	44031851	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:44031851A>T	ENST00000260605.8	+	11	973	c.873A>T	c.(871-873)aaA>aaT	p.K291N	DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.K292N|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.K165N	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	291						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTGGAAAAAAGTGTATGAAA	0.363000													4	158					0	0	0.009096	0	0
CENPE	1062	broad.mit.edu	37	4	104068758	104068758	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:104068758C>T	ENST00000265148.3	-	29	3978	c.3889G>A	c.(3889-3891)Gaa>Aaa	p.E1297K	CENPE_ENST00000380026.3_Missense_Mutation_p.E1272K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1297				E -> K (in Ref. 1; CAA78727).	blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCACTGACTTCTTTCACATTA	0.378000													5	144					0	0	0.014758	0	0
KIAA0430	9665	broad.mit.edu	37	16	15695991	15695991	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:15695991G>A	ENST00000396368.3	-	23	4689	c.4483C>T	c.(4483-4485)Cgg>Tgg	p.R1495W	KIAA0430_ENST00000551742.1_Missense_Mutation_p.R1495W|KIAA0430_ENST00000547936.1_5'UTR|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R1492W|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R1178W|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R1330W|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R1492W	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1494						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGTAAAGACCGCACATTCTTT	0.393000													5	358					0	0	0.021553	0	0
WWP2	11060	broad.mit.edu	37	16	69970320	69970320	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:69970320C>T	ENST00000359154.2	+	19	2183	c.2082C>T	c.(2080-2082)atC>atT	p.I694I	WWP2_ENST00000356003.2_Silent_p.I694I|WWP2_ENST00000568684.1_Silent_p.I255I|WWP2_ENST00000542271.1_Silent_p.I578I|WWP2_ENST00000448661.1_Silent_p.I694I|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	694	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCGAGAGCATCCGGGTCACAG	0.587000													3	27					0	0	0.009096	0	0
PKHD1	5314	broad.mit.edu	37	6	51720830	51720830	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:51720830G>C	ENST00000371117.3	-	49	8047	c.7772C>G	c.(7771-7773)aCt>aGt	p.T2591S	PKHD1_ENST00000340994.4_Missense_Mutation_p.T2591S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2591					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTGCTGTCAGTCATGGTTAA	0.388000													4	161					0	0	0.009096	0	0
PA2G4	5036	broad.mit.edu	37	12	56500854	56500854	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:56500854C>T	ENST00000303305.6	+	3	717	c.298C>T	c.(298-300)Ctc>Ttc	p.L100F	RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.L81F|PA2G4_ENST00000552766.1_Missense_Mutation_p.L100F|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	100					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GGATTATATTCTCAAGGAAGG	0.358000													7	118					0	0	0.003080	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616309	77616309	+	Translation_Start_Site	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:77616309C>A	ENST00000521891.2	+	0	434				ZFHX4_ENST00000050961.6_De_novo_Start_OutOfFrame|ZFHX4_ENST00000455469.2_De_novo_Start_OutOfFrame|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_De_novo_Start_OutOfFrame	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGAGATCCCCATGTAGCAAT	0.433000										HNSCC(33;0.089)			4	46					0.00909568	0.00951061	0.009096	1	0
STARD5	80765	broad.mit.edu	37	15	81605634	81605634	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:81605634G>A	ENST00000302824.6	-	6	630	c.605C>T	c.(604-606)gCc>gTc	p.A202V		NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	202	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						CTGAAGGTTGGCATAAAACCG	0.517000													4	173					0	0	0.009096	0	0
TIAM1	7074	broad.mit.edu	37	21	32499455	32499455	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr21:32499455G>C	ENST00000286827.3	-	27	4532	c.4061C>G	c.(4060-4062)gCc>gGc	p.A1354G	TIAM1_ENST00000541036.1_Missense_Mutation_p.A1294G	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1354	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTCACACACGGCATTTGCCTC	0.438000													8	92					0	0	0.010729	0	0
PTPDC1	138639	broad.mit.edu	37	9	96827099	96827099	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr9:96827099G>A	ENST00000375360.3	+	2	418	c.78G>A	c.(76-78)atG>atA	p.M26I		NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	26							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTGCAAACATGAAAGGTAATG	0.378000													15	129					0	0	0.004990	0	0
DARC	2532	broad.mit.edu	37	1	159175475	159175475	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:159175475G>T	ENST00000537147.1	+	3	1089	c.246G>T	c.(244-246)atG>atT	p.M82I	DARC_ENST00000368122.2_Missense_Mutation_p.M82I|DARC_ENST00000368121.2_Missense_Mutation_p.M84I			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	82					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TCCTCTTCATGCTTTTCAGAC	0.597000													50	254					2.69953e-25	3.89933e-25	0.014410	1	0
GIMAP8	155038	broad.mit.edu	37	7	150174822	150174822	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:150174822C>T	ENST00000307271.3	+	5	2526	c.1952C>T	c.(1951-1953)tCc>tTc	p.S651F		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	651						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAGGAAATGTCCCAAGCCGAA	0.428000													40	176					0	0	0.014410	0	0
USH2A	7399	broad.mit.edu	37	1	216243585	216243585	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:216243585G>C	ENST00000366943.2	-	30	6293	c.5907C>G	c.(5905-5907)taC>taG	p.Y1969*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.Y1969*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1969	Fibronectin type-III 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTCAATGCTGTATCCATTTA	0.473000										HNSCC(13;0.011)			5	255					0	0	0.014758	0	0
TRHDE	29953	broad.mit.edu	37	12	73050723	73050723	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:73050723T>A	ENST00000261180.4	+	18	2962	c.2866T>A	c.(2866-2868)Ttt>Att	p.F956I		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	956					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGAAGCATTGTTTATGAATTC	0.274000													7	194					0	0	0.008291	0	0
C1orf112	55732	broad.mit.edu	37	1	169801585	169801585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:169801585C>T	ENST00000286031.6	+	16	2177	c.1477C>T	c.(1477-1479)Caa>Taa	p.Q493*	C1orf112_ENST00000359326.4_Nonsense_Mutation_p.Q493*|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	493										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAATGTTATCAACTCATCAA	0.398000													5	176					0	0	0.001984	0	0
CCAR1	55749	broad.mit.edu	37	10	70507003	70507003	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:70507003G>A	ENST00000265872.6	+	7	723	c.604G>A	c.(604-606)Gca>Aca	p.A202T	CCAR1_ENST00000543719.1_Missense_Mutation_p.A187T|CCAR1_ENST00000535016.1_Missense_Mutation_p.A187T	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	202					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TAAATGGAATGCACAGAGAAT	0.333000													4	53					0	0	0.009096	0	0
ZNF347	84671	broad.mit.edu	37	19	53644975	53644975	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:53644975C>G	ENST00000452676.2	-	5	1535	c.1109G>C	c.(1108-1110)gGa>gCa	p.G370A	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.G370A|ZNF347_ENST00000334197.7_Missense_Mutation_p.G369A	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGGTTTCTCTCCAGTATGAAT	0.413000													6	174					0	0	0.021553	0	0
GRM8	2918	broad.mit.edu	37	7	126173734	126173734	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:126173734C>G	ENST00000339582.2	-	9	2510	c.1702G>C	c.(1702-1704)Ggc>Cgc	p.G568R	GRM8_ENST00000358373.3_Missense_Mutation_p.G568R|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.G568R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	568					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCTGGCAGCCTGTGCGGTTC	0.522000										HNSCC(24;0.065)			34	131					0	0	0.015359	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113174306	113174306	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:113174306A>T	ENST00000261965.3	-	15	1961	c.1775T>A	c.(1774-1776)tTg>tAg	p.L592*	TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.L592*	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	592					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					ATGCTGATACAAAGTCGTAGC	0.393000													4	127					0	0	0.009096	0	0
RGS1	5996	broad.mit.edu	37	1	192548398	192548398	+	Silent	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:192548398A>G	ENST00000367459.3	+	5	642	c.576A>G	c.(574-576)aaA>aaG	p.K192K		NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	192	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GGTTCCTCAAATCAGATATTT	0.403000													12	216					0	0	0.013537	0	0
GPR151	134391	broad.mit.edu	37	5	145895451	145895451	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:145895451G>T	ENST00000311104.2	-	1	302	c.226C>A	c.(226-228)Ctg>Atg	p.L76M		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	76						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGAATCAGGGAGTGGATC	0.527000													8	55					0.000157383	0.000175071	0.003080	1	0
USP13	8975	broad.mit.edu	37	3	179439297	179439297	+	Silent	SNP	G	G	T	rs115755648	byFrequency	TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:179439297G>T	ENST00000263966.3	+	8	1479	c.1008G>T	c.(1006-1008)acG>acT	p.T336T	USP13_ENST00000496897.1_Silent_p.T271T|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	336					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CTGGCTACACGGGTCTGAAGA	0.537000													3	48					6.4e-05	7.25049e-05	0.004672	1	0
STK39	27347	broad.mit.edu	37	2	168994715	168994715	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:168994715A>G	ENST00000355999.4	-	8	1562	c.857T>C	c.(856-858)tTg>tCg	p.L286S		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	286	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						ATCATTTTGCAAAGTCAACAT	0.348000													4	129					0	0	0.014758	0	0
ZNF155	7711	broad.mit.edu	37	19	44496052	44496052	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:44496052G>A	ENST00000270014.2	+	4	329	c.201G>A	c.(199-201)atG>atA	p.M67I	ZNF155_ENST00000407951.2_Missense_Mutation_p.M78I|ZNF155_ENST00000590615.1_Missense_Mutation_p.M67I	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	67	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				AGTTTTGGATGATGGGGACAG	0.478000													13	268					0	0	0.020292	0	0
CA10	56934	broad.mit.edu	37	17	50008443	50008443	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:50008443C>A	ENST00000451037.2	-	3	1126	c.186G>T	c.(184-186)gtG>gtT	p.V62V	CA10_ENST00000285273.4_Silent_p.V62V|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000442502.2_Silent_p.V62V|CA10_ENST00000340813.6_Silent_p.V68V	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	62					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GCCGTTTCCCCACAGAGCAAA	0.483000													6	290					0.00116845	0.00125644	0.021553	1	0
IGSF5	150084	broad.mit.edu	37	21	41142968	41142968	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr21:41142968G>A	ENST00000380588.4	+	4	647	c.544G>A	c.(544-546)Gtc>Atc	p.V182I	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	182	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CGGTCTCCTGGTCAGCCATTC	0.512000													20	106					0	0	0.014323	0	0
ST7	7982	broad.mit.edu	37	7	116759737	116759737	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:116759737T>G	ENST00000265437.5	+	3	571	c.357T>G	c.(355-357)agT>agG	p.S119R	ST7_ENST00000393449.1_Missense_Mutation_p.S119R|ST7_ENST00000393446.2_Missense_Mutation_p.S119R|ST7-AS2_ENST00000432541.1_RNA|ST7-AS2_ENST00000434993.1_RNA|ST7_ENST00000465133.1_Missense_Mutation_p.S76R|ST7_ENST00000422922.1_Missense_Mutation_p.S73R|ST7-AS2_ENST00000442719.1_RNA|ST7_ENST00000393443.1_Missense_Mutation_p.S69R|ST7_ENST00000432298.1_Missense_Mutation_p.S73R|ST7_ENST00000393444.3_Missense_Mutation_p.S76R|ST7_ENST00000393451.3_Missense_Mutation_p.S119R|ST7_ENST00000393447.4_Missense_Mutation_p.S76R|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000323984.3_Missense_Mutation_p.S119R	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	119						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTAATTCCAGTAACGGGGACT	0.398000													18	154					0	0	0.008871	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559150	129559150	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:129559150G>T	ENST00000422113.2	-	9	2896	c.2570C>A	c.(2569-2571)aCa>aAa	p.T857K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.T395K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	857						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGACCTGTCTGTCGTGGTGCC	0.557000													8	86					5.18039e-06	6.06468e-06	0.003080	1	0
C5orf42	65250	broad.mit.edu	37	5	37198949	37198949	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:37198949A>T	ENST00000274258.7	-	20	3757	c.170T>A	c.(169-171)cTt>cAt	p.L57H	C5orf42_ENST00000425232.2_Missense_Mutation_p.L1176H|C5orf42_ENST00000508244.1_Missense_Mutation_p.L1176H			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1176										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGCTTTTAAAAGAAGATCATC	0.368000													7	47					0	0	0.001984	0	0
CACHD1	57685	broad.mit.edu	37	1	65117912	65117912	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:65117912G>A	ENST00000371073.2	+	10	1459	c.1459G>A	c.(1459-1461)Gtg>Atg	p.V487M	CACHD1_ENST00000290039.5_Missense_Mutation_p.V436M|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	487	Cache 1.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGGTGTGGACGTGAATCTGGC	0.368000													7	115					0	0	0.001984	0	0
LHCGR	3973	broad.mit.edu	37	2	48915591	48915591	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:48915591C>G	ENST00000294954.7	-	11	1366	c.1345G>C	c.(1345-1347)Gca>Cca	p.A449P	LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.A422P|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.A387P|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	449					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGTTCACTTGCGAATACAGTG	0.488000													4	210					0	0	0.009096	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35909843	35909843	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:35909843C>T	ENST00000325722.3	-	17	2809	c.2575G>A	c.(2575-2577)Gtg>Atg	p.V859M	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.V296M|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	859						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATCGCTGCCACCTCATGGCCT	0.463000													14	116					0	0	0.016723	0	0
ATP2A2	488	broad.mit.edu	37	12	110764236	110764236	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:110764236G>A	ENST00000395494.2	+	6	1068	c.505G>A	c.(505-507)Gac>Aac	p.D169N	ATP2A2_ENST00000308664.6_Missense_Mutation_p.D196N|ATP2A2_ENST00000539276.2_Missense_Mutation_p.D196N			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	196					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCCCGTCCCTGACCCACGAGC	0.413000													3	42					0	0	0.009096	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340105	29340105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr18:29340105G>A	ENST00000269205.5	-	1	738	c.550C>T	c.(550-552)Cga>Tga	p.R184*	SLC25A52_ENST00000579441.2_Nonsense_Mutation_p.R174*	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	174					transport	integral to membrane|mitochondrial inner membrane											ACCAAGCCTCGATAATACTCT	0.448000													30	150					0	0	0.013726	0	0
TRIM5	85363	broad.mit.edu	37	11	5699520	5699520	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:5699520C>G	ENST00000305836.5	-	4	960	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380034.3_Missense_Mutation_p.E220Q|TRIM5_ENST00000380027.1_Missense_Mutation_p.E220Q|TRIM5_ENST00000396853.4_Missense_Mutation_p.E220Q|TRIM5_ENST00000396855.3_Missense_Mutation_p.E220Q|TRIM5_ENST00000396847.3_Missense_Mutation_p.E220Q			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	220					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TGCACCATCTCAGTTTCAGAG	0.517000													13	127					0	0	0.016723	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195254	18195254	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:18195254C>A	ENST00000314254.3	+	1	871	c.451C>A	c.(451-453)Ctg>Atg	p.L151M	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	151						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGGCCTGTCCCTGCTGTTTAG	0.582000													19	214					7.92952e-12	1.06092e-11	0.021523	1	0
HAS2	3037	broad.mit.edu	37	8	122629425	122629425	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:122629425G>C	ENST00000303924.4	-	3	1186	c.649C>G	c.(649-651)Ctt>Gtt	p.L217V		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	217						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GCTGGGTCAAGCATAGTGTCT	0.393000													15	79					0	0	0.004990	0	0
OR2T8	343172	broad.mit.edu	37	1	248084403	248084403	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:248084403G>T	ENST00000319968.4	+	1	84	c.84G>T	c.(82-84)atG>atT	p.M28I		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTTCATGATGGTTCTGAGTA	0.468000													47	267					9.72345e-25	1.40217e-24	0.014410	1	0
SIM2	6493	broad.mit.edu	37	21	38095399	38095399	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr21:38095399A>G	ENST00000290399.6	+	5	1124	c.511A>G	c.(511-513)Agg>Ggg	p.R171G	SIM2_ENST00000430056.3_Missense_Mutation_p.R171G	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	171					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CTTGGCGAAAAGGAACGCGGG	0.537000													7	106					0	0	0.001984	0	0
TAMM41	132001	broad.mit.edu	37	3	11832011	11832011	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:11832011T>C	ENST00000273037.5	-	7	1201	c.919A>G	c.(919-921)Atg>Gtg	p.M307V	TAMM41_ENST00000455809.1_Missense_Mutation_p.M328V	NM_138807.2	NP_620162.1	Q96BW9	MMP37_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	307					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane											CCTTTCCACATTTTGTGCAGT	0.368000													9	266					0	0	0.008291	0	0
ZNF417	147687	broad.mit.edu	37	19	58420019	58420019	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:58420019T>G	ENST00000312026.5	-	3	1791	c.1627A>C	c.(1627-1629)Act>Cct	p.T543P	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.T542P|ZNF417_ENST00000536263.1_Missense_Mutation_p.T344P	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CTTTCTCCAGTGTGAATTCTC	0.403000													33	194					0	0	0.015359	0	0
ARMC3	219681	broad.mit.edu	37	10	23319719	23319719	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:23319719T>A	ENST00000298032.5	+	17	2324	c.2240T>A	c.(2239-2241)cTg>cAg	p.L747Q	ARMC3_ENST00000409983.3_Missense_Mutation_p.L740Q|ARMC3_ENST00000376528.4_Missense_Mutation_p.L484Q	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	747							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTGAGGATCTGGCAAAGTAA	0.328000													7	146					0	0	0.001984	0	0
OR52R1	119695	broad.mit.edu	37	11	4824764	4824764	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:4824764A>T	ENST00000380382.1	-	1	1083	c.1084T>A	c.(1084-1086)Tat>Aat	p.Y362N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.Y283N			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCAGTAGATAGAGATTAGCA	0.468000													6	378					0	0	0.003080	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190983	209190983	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:209190983A>T	ENST00000264380.4	+	20	3606	c.3448A>T	c.(3448-3450)Aga>Tga	p.R1150*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1150					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GAGCTTGGGTAGAATGCTGGC	0.468000													13	71					0	0	0.016723	0	0
FAM117B	150864	broad.mit.edu	37	2	203620382	203620382	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:203620382G>T	ENST00000303116.6	+	5	1092	c.350G>T	c.(349-351)gGg>gTg	p.G117V	FAM117B_ENST00000392238.2_Missense_Mutation_p.G361V	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	361										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						AAAGAGACTGGGGAAAAGGAA	0.348000													20	127					1.00905e-13	1.36897e-13	0.008871	1	0
PPIP5K2	23262	broad.mit.edu	37	5	102522093	102522093	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:102522093A>C	ENST00000321521.9	+	27	3815	c.3242A>C	c.(3241-3243)tAt>tCt	p.Y1081S	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.Y1081S|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.Y1081S|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1081					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTACAGGATTATGCTCGTACT	0.498000													17	129					0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9063745	9063745	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:9063745C>T	ENST00000397910.4	-	3	23904	c.23701G>A	c.(23701-23703)Gca>Aca	p.A7901T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7903	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTATTTCTGCTGATTCTGTC	0.493000													6	309					0	0	0.003080	0	0
GPX6	257202	broad.mit.edu	37	6	28472273	28472273	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:28472273G>T	ENST00000361902.1	-	5	511	c.462C>A	c.(460-462)aaC>aaA	p.N154K	GPX6_ENST00000474923.1_Missense_Mutation_p.T121N	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	154					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GAGGGCAGGAGTTCTGGAGCA	0.428000													17	55					3.99206e-14	5.44144e-14	0.007413	1	0
FLNB	2317	broad.mit.edu	37	3	58109141	58109141	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:58109141G>A	ENST00000357272.4	+	21	3613	c.3448G>A	c.(3448-3450)Gaa>Aaa	p.E1150K	FLNB_ENST00000419752.2_Missense_Mutation_p.E981K|FLNB_ENST00000493452.1_Missense_Mutation_p.E981K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1150K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1150K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1150K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1150K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1150K			O75369	FLNB_HUMAN	filamin B, beta	1150	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAAGGTGGGTGAAGCTGGCCT	0.597000													14	114					0	0	0.013537	0	0
MDH2	4191	broad.mit.edu	37	7	75684173	75684173	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:75684173G>T	ENST00000315758.5	+	2	186	c.92G>T	c.(91-93)gGg>gTg	p.G31V	MDH2_ENST00000490105.1_3'UTR|MDH2_ENST00000443006.1_Intron|MDH2_ENST00000432020.2_Missense_Mutation_p.G31V	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	31					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	GCTGTGCTAGGGGCCTCTGGA	0.502000													17	78					1.01871e-10	1.34236e-10	0.008871	1	0
ARID5B	84159	broad.mit.edu	37	10	63852413	63852413	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:63852413G>C	ENST00000279873.7	+	10	3601	c.3191G>C	c.(3190-3192)gGc>gCc	p.G1064A	ARID5B_ENST00000309334.5_Missense_Mutation_p.G821A	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1064					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CATTCCGGGGGCGGATCAGAA	0.612000													9	112					0	0	0.013537	0	0
CLEC4D	338339	broad.mit.edu	37	12	8670788	8670788	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:8670788G>C	ENST00000299665.2	+	3	343	c.150G>C	c.(148-150)aaG>aaC	p.K50N		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	50					innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CACGCTGTAAGAGAGGCACAG	0.398000													7	30					0	0	0.006214	0	0
UBR2	23304	broad.mit.edu	37	6	42633948	42633948	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:42633948G>T	ENST00000372899.1	+	34	4104	c.3846G>T	c.(3844-3846)caG>caT	p.Q1282H	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.Q1282H	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1282					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATGAATTACAGCTCCCTGAAG	0.318000													23	204					1.39806e-14	1.90863e-14	0.008361	1	0
C1orf112	55732	broad.mit.edu	37	1	169801565	169801565	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:169801565C>T	ENST00000286031.6	+	16	2157	c.1457C>T	c.(1456-1458)tCa>tTa	p.S486L	C1orf112_ENST00000359326.4_Missense_Mutation_p.S486L|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	486										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGATAAAGTCATGCCCTGGA	0.383000													6	157					0	0	0.021553	0	0
CFH	3075	broad.mit.edu	37	1	196695668	196695668	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:196695668G>C	ENST00000367429.4	+	13	2182	c.1942G>C	c.(1942-1944)Gaa>Caa	p.E648Q		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	648	Sushi 11.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AACGAAAGAAGAATATGGACA	0.353000													11	267					0	0	0.013537	0	0
TJP1	7082	broad.mit.edu	37	15	30053914	30053914	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:30053914C>A	ENST00000346128.6	-	7	1226	c.752G>T	c.(751-753)aGg>aTg	p.R251M	TJP1_ENST00000495972.2_Missense_Mutation_p.R251M|TJP1_ENST00000356107.6_Missense_Mutation_p.R251M|TJP1_ENST00000545208.2_Missense_Mutation_p.R251M|TJP1_ENST00000400011.2_Missense_Mutation_p.R255M	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	251	PDZ 2.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCCTTTAGACCTTTCTATCAA	0.353000													8	44					1.12685e-05	1.30517e-05	0.004482	1	0
PRDM1	639	broad.mit.edu	37	6	106554849	106554849	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:106554849G>A	ENST00000369096.4	+	7	2200	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	PRDM1_ENST00000369091.2_Missense_Mutation_p.E620K|PRDM1_ENST00000369089.3_Missense_Mutation_p.E522K	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	656					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCATTCTGGAGAGAAACCATA	0.557000			"""D, N, Mis, F, S"""		DLBCL								7	120					0	0	0.004482	0	0
PCDH17	27253	broad.mit.edu	37	13	58240938	58240938	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:58240938C>T	ENST00000377918.3	+	3	2794	c.2768C>T	c.(2767-2769)aCt>aTt	p.T923I		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	923					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATGAAAACTACTTCAACTAAA	0.438000													6	122					0	0	0.001984	0	0
RSPO4	343637	broad.mit.edu	37	20	948755	948755	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr20:948755T>A	ENST00000217260.4	-	2	202	c.106A>T	c.(106-108)Aca>Tca	p.T36S	RSPO4_ENST00000400634.2_Missense_Mutation_p.T36S	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	36					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						ATACAGCCTGTGCAGTTGCCC	0.597000													3	91					0	0	0.004672	0	0
PDZRN4	29951	broad.mit.edu	37	12	41900492	41900492	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:41900492T>A	ENST00000298919.7	+	4	686	c.298T>A	c.(298-300)Tgt>Agt	p.C100S	PDZRN4_ENST00000402685.2_Missense_Mutation_p.C360S|PDZRN4_ENST00000539469.2_Missense_Mutation_p.C102S			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	360							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCCAGACATCTGTCCATTCCT	0.473000													5	154					0	0	0.001984	0	0
CLCA2	9635	broad.mit.edu	37	1	86905931	86905931	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:86905931G>T	ENST00000370565.4	+	8	1466	c.1304G>T	c.(1303-1305)aGc>aTc	p.S435I		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	435	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACTGTGCTCAGCAGTGGTTCA	0.418000													39	351					2.87052e-16	3.96861e-16	0.023175	1	0
ZNF337	26152	broad.mit.edu	37	20	25655806	25655806	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr20:25655806T>C	ENST00000376436.1	-	4	2657	c.2118A>G	c.(2116-2118)atA>atG	p.I706M	ZNF337_ENST00000538750.1_Missense_Mutation_p.I674M|ZNF337_ENST00000252979.5_Missense_Mutation_p.I706M|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTCCTGTGTGTATTCTTTCAT	0.453000													49	477					0	0	0.014410	0	0
FIGF	2277	broad.mit.edu	37	X	15364265	15364265	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:15364265T>C	ENST00000297904.3	-	7	1484	c.1055A>G	c.(1054-1056)aAg>aGg	p.K352R	FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	352					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TCAAGGATTCTTTCGGCTGTG	0.488000													8	310					0	0	0.004482	0	0
LAIR2	3904	broad.mit.edu	37	19	55019214	55019214	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:55019214T>A	ENST00000301202.2	+	3	301	c.179T>A	c.(178-180)cTg>cAg	p.L60Q	LAIR2_ENST00000351841.2_Missense_Mutation_p.L60Q	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	60	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ACATTCCGCCTGGAGAGGGAG	0.537000													13	73					0	0	0.016723	0	0
OR2B6	26212	broad.mit.edu	37	6	27925169	27925169	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:27925169C>A	ENST00000244623.1	+	1	151	c.151C>A	c.(151-153)Ctg>Atg	p.L51M		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTGTCACGCCTGGACACCAA	0.428000													16	291					2.94398e-08	3.68421e-08	0.007413	1	0
INADL	10207	broad.mit.edu	37	1	62241001	62241001	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:62241001G>T	ENST00000371158.2	+	7	958	c.844G>T	c.(844-846)Gat>Tat	p.D282Y	INADL_ENST00000316485.6_Missense_Mutation_p.D282Y	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	282	PDZ 2.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGGATTAGCAGATCGAGTAAG	0.358000													23	360					1.64293e-13	2.22204e-13	0.018920	1	0
FAM131B	9715	broad.mit.edu	37	7	143054475	143054475	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:143054475C>T	ENST00000409408.1	-	5	2132	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	FAM131B_ENST00000409578.1_Missense_Mutation_p.A158T|FAM131B_ENST00000409222.3_Missense_Mutation_p.A142T|FAM131B_ENST00000409346.1_Missense_Mutation_p.A142T|FAM131B_ENST00000443739.2_Missense_Mutation_p.A170T			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	142										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GAAGACCAGGCCATGAGTGTG	0.517000													5	65					0	0	0.014758	0	0
KMT2A	4297	broad.mit.edu	37	11	118376154	118376154	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:118376154C>A	ENST00000534358.1	+	27	9570	c.9547C>A	c.(9547-9549)Cct>Act	p.P3183T	KMT2A_ENST00000389506.5_Missense_Mutation_p.P3180T|KMT2A_ENST00000354520.4_Missense_Mutation_p.P3142T	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CATCAGCAATCCTCCTTCAGG	0.512000													42	207					4.18559e-23	5.96669e-23	0.014410	1	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043589	26043589	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:26043589C>T	ENST00000357905.2	-	1	296	c.297G>A	c.(295-297)gtG>gtA	p.V99V		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	99					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCAGCAGGCGCACAGCCGTCT	0.562000													6	43					0	0	0.004482	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712241	140712241	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:140712241G>T	ENST00000517417.1	+	1	1990	c.1990G>T	c.(1990-1992)Gtg>Ttg	p.V664L	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.V664L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTGGCCGTGGCCGACAG	0.682000													8	33					1.12685e-05	1.30517e-05	0.004482	1	0
DPP6	1804	broad.mit.edu	37	7	154561257	154561257	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:154561257C>A	ENST00000404039.1	+	9	1409	c.822C>A	c.(820-822)acC>acA	p.T274T	DPP6_ENST00000332007.3_Silent_p.T276T|DPP6_ENST00000427557.1_Silent_p.T231T|DPP6_ENST00000377770.3_Silent_p.T338T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	338					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.T274T(1)|p.T276T(1)|p.T338T(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTACCCCACCGTGAAGCCCT	0.552000													3	14					0.004672	0.0049325	0.004672	1	0
INADL	10207	broad.mit.edu	37	1	62545190	62545190	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:62545190A>T	ENST00000371158.2	+	32	4308	c.4194A>T	c.(4192-4194)ttA>ttT	p.L1398F	INADL_ENST00000316485.6_Missense_Mutation_p.L1398F|INADL_ENST00000545929.1_Missense_Mutation_p.L71F|INADL_ENST00000543708.1_Missense_Mutation_p.L182F	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1398					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGATACCATTAGCACCAGCTT	0.398000													7	131					0	0	0.001984	0	0
RGS9	8787	broad.mit.edu	37	17	63204048	63204048	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:63204048T>A	ENST00000449996.3	+	16	1275	c.1203T>A	c.(1201-1203)taT>taA	p.Y401*	RGS9_ENST00000262406.9_Nonsense_Mutation_p.Y404*|RGS9_ENST00000443584.3_Nonsense_Mutation_p.Y401*	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	404	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AGGATTCTTATGCTCGCTATT	0.398000													22	83					0	0	0.018920	0	0
SLC13A1	6561	broad.mit.edu	37	7	122768942	122768942	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:122768942G>T	ENST00000194130.2	-	10	1129	c.1090C>A	c.(1090-1092)Cga>Aga	p.R364R	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	364						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CCGGGGTCTCGACTAAACCAT	0.418000													32	128					4.46736e-08	5.5746e-08	0.023175	1	0
NLGN4X	57502	broad.mit.edu	37	X	5827266	5827266	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:5827266C>A	ENST00000381095.3	-	4	1267	c.640G>T	c.(640-642)Ggt>Tgt	p.G214C	NLGN4X_ENST00000381092.1_Missense_Mutation_p.G214C|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G214C|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G214C|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G234C	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	214			G -> S (in a colorectal cancer sample; somatic mutation).		brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.G214S(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCCTGGTCACCGGTACTTAAA	0.458000													8	126					0.000978159	0.00106231	0.010729	1	0
LPPR4	9890	broad.mit.edu	37	1	99772455	99772455	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:99772455C>A	ENST00000370185.3	+	7	2678	c.2181C>A	c.(2179-2181)acC>acA	p.T727T	LPPR4_ENST00000457765.1_Silent_p.T669T|LPPR4_ENST00000370184.1_Silent_p.T569T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		727							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCGACTCCACCCTGCGGAGAA	0.522000													8	98					0.00307968	0.00328323	0.003080	1	0
CNKSR2	22866	broad.mit.edu	37	X	21545047	21545047	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:21545047C>A	ENST00000425654.2	+	10	1500	c.1020C>A	c.(1018-1020)ccC>ccA	p.P340P	CNKSR2_ENST00000379510.3_Silent_p.P340P|CNKSR2_ENST00000543067.1_Silent_p.P291P|CNKSR2_ENST00000279451.4_Silent_p.P340P	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	340	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TCAGTACACCCACCAAAAGAG	0.468000													119	762					2.68169e-52	3.94553e-52	0.014410	1	0
OR51I1	390063	broad.mit.edu	37	11	5461952	5461952	+	Missense_Mutation	SNP	G	G	A	rs145392841	by1000genomes	TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:5461952G>A	ENST00000380211.1	-	1	792	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R265C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCAGAAGCGGTGAATCATG	0.483000													6	190					0	0	0.004482	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576519	158576519	+	Silent	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:158576519T>C	ENST00000361284.1	+	1	291	c.291T>C	c.(289-291)tgT>tgC	p.C97C		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	97					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)					ATGTGGGCTGTGCTGCCCAGA	0.552000													40	643					0	0	0.009718	0	0
IFI44L	10964	broad.mit.edu	37	1	79093737	79093737	+	Missense_Mutation	SNP	G	G	T	rs149202070	byFrequency	TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:79093737G>T	ENST00000370751.4	+	2	316	c.137G>T	c.(136-138)cGt>cTt	p.R46L	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	46						cytoplasm		p.R7H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGATGCAGCCGTCAGGGATGT	0.363000													10	133					0.00621372	0.00654431	0.006214	1	0
TRIM16	10626	broad.mit.edu	37	17	15531966	15531966	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:15531966T>C	ENST00000578237.1	-	11	2513	c.1658A>G	c.(1657-1659)gAg>gGg	p.E553G	TRIM16_ENST00000577886.1_Missense_Mutation_p.E337G|TRIM16_ENST00000416464.2_Missense_Mutation_p.E423G|TRIM16_ENST00000336708.7_Missense_Mutation_p.E553G|TRIM16_ENST00000579219.1_3'UTR|RP11-385D13.1_ENST00000455584.2_Intron					tripartite motif containing 16											breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TGCTGGCTTCTCGGGTTCCTC	0.517000													3	41					0	0	0.009096	0	0
PRDM16	63976	broad.mit.edu	37	1	3328562	3328562	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:3328562G>T	ENST00000378398.3	+	10	1886	c.1804G>T	c.(1804-1806)Ggc>Tgc	p.G602C	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.G601C|PRDM16_ENST00000441472.2_Missense_Mutation_p.G601C|PRDM16_ENST00000270722.5_Missense_Mutation_p.G601C|PRDM16_ENST00000514189.1_Missense_Mutation_p.G602C|PRDM16_ENST00000511072.1_Missense_Mutation_p.G602C|PRDM16_ENST00000378391.2_Missense_Mutation_p.G601C			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	601					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CATGTCGGACGGCAGTGACTT	0.662000			T	EVI1	"""MDS, AML"""								5	91					0.000602214	0.000657304	0.014758	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618301	77618301	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:77618301G>T	ENST00000521891.2	+	2	2426	c.1978G>T	c.(1978-1980)Gag>Tag	p.E660*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E660*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E660*|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E660*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	660						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGACCCTGGAGGCCCATAT	0.502000										HNSCC(33;0.089)			7	100					5.68852e-11	7.54141e-11	0.004482	1	0
CEP250	11190	broad.mit.edu	37	20	34061702	34061702	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr20:34061702G>T	ENST00000397527.1	+	14	2116	c.1396G>T	c.(1396-1398)Gag>Tag	p.E466*	CEP250_ENST00000342580.4_Nonsense_Mutation_p.E466*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	466	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CAGGGAGCGAGAGCTGCTGCA	0.562000													5	59					5.9392e-07	7.21484e-07	0.021553	1	0
RP11-909M7.3	0	broad.mit.edu	37	14	101435347	101435347	+	RNA	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:101435347C>A	ENST00000554693.2	+	0	212				SNORD114-12_ENST00000365400.1_RNA																							GTGTCTGGAACTCTGAGGTCC	0.358000													20	98					1.37657e-19	1.92763e-19	0.012319	1	0
CST1	1469	broad.mit.edu	37	20	23731400	23731400	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr20:23731400T>G	ENST00000304749.2	-	1	174	c.104A>C	c.(103-105)tAt>tCt	p.Y35S	CST1_ENST00000398402.1_Missense_Mutation_p.Y35S	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	35						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GTCTGCGTTATAGATGCCACC	0.572000													5	85					0	0	0.014758	0	0
OR10G8	219869	broad.mit.edu	37	11	123900935	123900935	+	Silent	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:123900935T>G	ENST00000431524.1	+	1	639	c.606T>G	c.(604-606)gtT>gtG	p.V202V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TTGTGACTGTTGGAATAGTGG	0.537000													20	227					0	0	0.016522	0	0
ACTC1	70	broad.mit.edu	37	15	35086895	35086895	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:35086895G>A	ENST00000290378.4	-	2	770	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	39					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TGCCGCGGGCGGCCCACGATG	0.677000													4	23					0	0	0.009096	0	0
GIMAP4	55303	broad.mit.edu	37	7	150270130	150270130	+	Silent	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:150270130T>G	ENST00000255945.2	+	3	1147	c.972T>G	c.(970-972)cgT>cgG	p.R324R	GIMAP4_ENST00000461940.1_Silent_p.R338R	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	324							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTTGTTACGTCTGTTCGCGG	0.398000													51	206					0	0	0.014410	0	0
TMEM209	84928	broad.mit.edu	37	7	129813780	129813780	+	Splice_Site	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:129813780C>T	ENST00000397622.2	-	12	1467		c.e12-1		TMEM209_ENST00000473456.1_Splice_Site|TMEM209_ENST00000336804.8_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Splice_Site	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209							integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GCATGATGATCTGAGGATGAA	0.348000													12	200					0	0	0.016723	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970465	101970465	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:101970465G>T	ENST00000543253.1	+	5	1587	c.668G>T	c.(667-669)gGg>gTg	p.G223V	GPRASP2_ENST00000535209.1_Missense_Mutation_p.G223V|GPRASP2_ENST00000332262.5_Missense_Mutation_p.G223V	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AATGAGTCTGGGTTCTGGTCA	0.542000													46	282					3.21987e-24	4.62028e-24	0.014410	1	0
RPL27A	6157	broad.mit.edu	37	11	8706410	8706410	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:8706410G>T	ENST00000314138.6	+	4	692	c.289G>T	c.(289-291)Gct>Tct	p.A97S	RPL27A_ENST00000530913.1_Missense_Mutation_p.A40S|RPL27A_ENST00000524496.1_Missense_Mutation_p.A40S|RPL27A_ENST00000530022.1_Missense_Mutation_p.A40S|RPL27A_ENST00000532359.1_Missense_Mutation_p.A62S|RPL27A_ENST00000531978.1_Missense_Mutation_p.A97S|RPL27A_ENST00000526562.1_Missense_Mutation_p.A40S	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a	97					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAAGACTGGGGCTGCTCCCAT	0.443000													7	168					0.00198382	0.00212535	0.001984	1	0
ZNF287	57336	broad.mit.edu	37	17	16456093	16456093	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:16456093C>T	ENST00000395824.1	-	6	1980	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N	ZNF287_ENST00000395825.3_Missense_Mutation_p.D455N			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	448					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CCACAGTCATCACACTTATAG	0.433000													5	235					0	0	0.014758	0	0
MAP7D2	256714	broad.mit.edu	37	X	20030537	20030537	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:20030537G>A	ENST00000379651.3	-	14	1897	c.1879C>T	c.(1879-1881)Ctg>Ttg	p.L627L	MAP7D2_ENST00000452324.3_Silent_p.L575L|MAP7D2_ENST00000443379.3_Silent_p.L582L|MAP7D2_ENST00000543767.1_Silent_p.L512L|MAP7D2_ENST00000379643.5_Silent_p.L668L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	627										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						AGGGCATCCAGATGAATGAGT	0.448000													35	451					0	0	0.019004	0	0
OCRL	4952	broad.mit.edu	37	X	128723862	128723862	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:128723862G>A	ENST00000371113.4	+	23	2675	c.2510G>A	c.(2509-2511)cGt>cAt	p.R837H	OCRL_ENST00000357121.5_Missense_Mutation_p.R829H	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	837	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AATGTTTTCCGTTACTTGATG	0.433000													6	257					0	0	0.021553	0	0
DNAH5	1767	broad.mit.edu	37	5	13776554	13776554	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:13776554C>G	ENST00000265104.4	-	55	9471	c.9367G>C	c.(9367-9369)Gtt>Ctt	p.V3123L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3123	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAACCAGCAACTAAAGCATCT	0.468000									Kartagener syndrome				42	741					0	0	0.014410	0	0
EMC7	56851	broad.mit.edu	37	15	34382622	34382622	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:34382622C>G	ENST00000256545.4	-	3	499	c.391G>C	c.(391-393)Gtt>Ctt	p.V131L		NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		AGTCTGACAACCTCTGATGTT	0.393000													19	104					0	0	0.007413	0	0
ATF6B	1388	broad.mit.edu	37	6	32089085	32089085	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:32089085G>T	ENST00000375201.4	-	6	555	c.510C>A	c.(508-510)tcC>tcA	p.S170S	ATF6B_ENST00000375203.3_Silent_p.S173S			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	173					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CAGAGTTGACGGAAGAACATG	0.532000													28	85					1.55811e-20	2.19954e-20	0.008361	1	0
LRRC30	339291	broad.mit.edu	37	18	7231728	7231728	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr18:7231728C>T	ENST00000383467.2	+	1	606	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	198										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTCGAATCGCCTGGAAAACAT	0.542000													17	62					0	0	0.008871	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833557	101833557	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:101833557G>T	ENST00000263468.8	+	6	2061	c.1791G>T	c.(1789-1791)caG>caT	p.Q597H	KIAA1377_ENST00000537689.1_Missense_Mutation_p.Q398H	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	597							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTATAAATCAGAGCTTTAAGT	0.294000													23	116					5.35356e-11	7.10815e-11	0.016522	1	0
MYO16	23026	broad.mit.edu	37	13	109817277	109817277	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:109817277C>G	ENST00000356711.2	+	33	5253	c.5127C>G	c.(5125-5127)agC>agG	p.S1709R	MYO16_ENST00000357550.2_Missense_Mutation_p.S1709R|MYO16-AS1_ENST00000439299.1_RNA	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1709					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)			ACATAAGTAGCCGAGATGACC	0.299000													4	40					0	0	0.009096	0	0
NAV3	89795	broad.mit.edu	37	12	78401054	78401054	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:78401054G>T	ENST00000397909.2	+	8	1909	c.1736G>T	c.(1735-1737)tGt>tTt	p.C579F	NAV3_ENST00000536525.2_Missense_Mutation_p.C579F|NAV3_ENST00000266692.7_Missense_Mutation_p.C579F|NAV3_ENST00000228327.6_Missense_Mutation_p.C579F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	579						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCTTCTAGTTGTCCTGCCCCT	0.507000										HNSCC(70;0.22)			40	156					4.44401e-20	6.25321e-20	0.010771	1	0
AQR	9716	broad.mit.edu	37	15	35196688	35196688	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:35196688T>A	ENST00000156471.5	-	19	2075	c.1850A>T	c.(1849-1851)aAt>aTt	p.N617I		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	617						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCCTCTAAGATTGGGTCTGGG	0.313000													14	146					0	0	0.024245	0	0
PPP6R2	9701	broad.mit.edu	37	22	50878211	50878211	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr22:50878211G>C	ENST00000359139.3	+	19	2526	c.2132G>C	c.(2131-2133)aGt>aCt	p.S711T	PPP6R2_ENST00000216061.5_Missense_Mutation_p.S737T|PPP6R2_ENST00000395741.3_Missense_Mutation_p.S711T|PPP6R2_ENST00000395744.3_Missense_Mutation_p.S710T	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	737						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GTGGGTTCCAGTGTGTGGGCA	0.607000													4	22					0	0	0.009096	0	0
OLFM4	10562	broad.mit.edu	37	13	53603113	53603113	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:53603113T>A	ENST00000219022.2	+	1	220	c.142T>A	c.(142-144)Tcc>Acc	p.S48T		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	48	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		cagcttcagctccagctccag	0.607000													15	120					0	0	0.004990	0	0
SYNE1	23345	broad.mit.edu	37	6	152552538	152552538	+	Silent	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:152552538T>A	ENST00000367255.5	-	114	21628	c.21027A>T	c.(21025-21027)ctA>ctT	p.L7009L	SYNE1_ENST00000341594.5_Silent_p.L6621L|SYNE1_ENST00000265368.4_Silent_p.L7009L|SYNE1_ENST00000356820.4_Silent_p.L1533L|SYNE1_ENST00000423061.1_Silent_p.L6938L|SYNE1_ENST00000448038.1_Silent_p.L6938L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7009					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTCAGTTACTAGACCTTGCA	0.438000										HNSCC(10;0.0054)			23	169					0	0	0.024334	0	0
C1orf100	200159	broad.mit.edu	37	1	244528036	244528036	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:244528036C>T	ENST00000308105.4	+	2	147	c.34C>T	c.(34-36)Cgt>Tgt	p.R12C	C1orf100_ENST00000366537.1_Missense_Mutation_p.R12C	NM_001012970.1	NP_001012988.1	Q5SVJ3	CA100_HUMAN	chromosome 1 open reading frame 100	12										endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			ATTTATTGAGCGTCGCCCAGT	0.468000													7	142					0	0	0.008291	0	0
NCCRP1	342897	broad.mit.edu	37	19	39689847	39689847	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:39689847G>A	ENST00000339852.4	+	4	512	c.490G>A	c.(490-492)Gag>Aag	p.E164K		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	164	FBA.				protein catabolic process			p.E164Q(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						CCTTCTGGCCGAGGGCCTGTG	0.642000													4	57					0	0	0.009096	0	0
RAD50	10111	broad.mit.edu	37	5	131939049	131939049	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:131939049G>C	ENST00000378823.3	+	14	2666	c.1848G>C	c.(1846-1848)caG>caC	p.Q616H	RAD50_ENST00000265335.6_Missense_Mutation_p.Q755H	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	755			K -> E (in dbSNP:rs1047380).		DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAAACTGCAGAATGTCAATA	0.343000								Homologous recombination					11	121					0	0	0.008291	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978565	119978565	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:119978565C>A	ENST00000307142.4	+	5	3458	c.3262C>A	c.(3262-3264)Cgc>Agc	p.R1088S	SYNPO2_ENST00000448416.2_Silent_p.G89G	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	718						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGAGAGTGGGCGCTCCCTTTC	0.413000													41	122					2.64514e-33	3.87212e-33	0.014410	1	0
FGL2	10875	broad.mit.edu	37	7	76826126	76826126	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:76826126A>T	ENST00000248598.5	-	2	822	c.790T>A	c.(790-792)Ttc>Atc	p.F264I	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	264	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						GTTCTGGTGAAGTTGGTGCTC	0.483000													44	180					0	0	0.014410	0	0
GNPAT	8443	broad.mit.edu	37	1	231396349	231396349	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:231396349C>T	ENST00000366647.4	+	3	527	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	GNPAT_ENST00000366646.3_Missense_Mutation_p.R59W	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	120					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TGGAGCCATTCGGTTTTGTGC	0.393000													10	529					0	0	0.013537	0	0
NDUFA8	4702	broad.mit.edu	37	9	124910417	124910417	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr9:124910417G>A	ENST00000537618.1	-	3	464	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	NDUFA8_ENST00000373768.3_Missense_Mutation_p.R119W			P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	119					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.R119W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					NADH(DB00157)	AGGTCAGGCCGCACCCAGCCC	0.512000													5	309					0	0	0.021553	0	0
CTPS2	56474	broad.mit.edu	37	X	16707658	16707658	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:16707658C>A	ENST00000443824.1	-	8	1530	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L	CTPS2_ENST00000359276.4_Missense_Mutation_p.V263L|CTPS2_ENST00000380241.3_Missense_Mutation_p.V263L	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	263					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					AAATATTTCACAATGCTTTGT	0.398000													6	216					5.9392e-07	7.21484e-07	0.021553	1	0
SCN7A	6332	broad.mit.edu	37	2	167262131	167262131	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:167262131C>G	ENST00000409855.1	-	25	5134	c.5008G>C	c.(5008-5010)Gac>Cac	p.D1670H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1670					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTAGCTTTGTCAAAATAGGCA	0.343000													55	427					0	0	0.014410	0	0
HCN1	348980	broad.mit.edu	37	5	45396599	45396599	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:45396599C>G	ENST00000303230.4	-	4	1282	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	409						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATTACCTTCTCTTGATACTGC	0.443000													3	69					0	0	0.009096	0	0
FANCA	2175	broad.mit.edu	37	16	89818612	89818612	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:89818612G>A	ENST00000389301.3	-	31	3030	c.3000C>T	c.(2998-3000)caC>caT	p.H1000H	FANCA_ENST00000568369.1_Silent_p.H1000H	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1000					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AATTTTCTGAGTGGTCATAAC	0.448000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	235					0	0	0.006122	0	0
DCDC1	341019	broad.mit.edu	37	11	30953464	30953464	+	Silent	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:30953464C>G	ENST00000597505.1	-	20	2750	c.2751G>C	c.(2749-2751)ccG>ccC	p.P917P	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_5'UTR|DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	270					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GAGGACTGCTCGGAACAAGCA	0.393000													4	81					0	0	0.021553	0	0
GOLGA7B	401647	broad.mit.edu	37	10	99619326	99619326	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:99619326G>C	ENST00000370602.1	+	2	189	c.124G>C	c.(124-126)Gag>Cag	p.E42Q		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	42						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						ATTCCCCCCAGAGCTGGACAG	0.522000													5	54					0	0	0.014758	0	0
EPHA6	285220	broad.mit.edu	37	3	97467522	97467522	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:97467522C>A	ENST00000389672.5	+	18	3408	c.3370C>A	c.(3370-3372)Cag>Aag	p.Q1124K		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	1029						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GATGCACATACAGGAGAAGGG	0.398000													4	62					0.00909568	0.00951061	0.009096	1	0
NGB	58157	broad.mit.edu	37	14	77734877	77734877	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:77734877G>T	ENST00000298352.4	-	3	627	c.253C>A	c.(253-255)Ctg>Atg	p.L85M		NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	85	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		TACTCCTCCAGTGAGGACAGG	0.587000													22	121					8.10497e-08	1.00419e-07	0.010504	1	0
RGS21	431704	broad.mit.edu	37	1	192316479	192316479	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:192316479G>T	ENST00000417209.2	+	3	222	c.48G>T	c.(46-48)atG>atT	p.M16I		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	16					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						CGGAAACAATGACATGGTCTG	0.303000													31	133					1.60099e-16	2.21694e-16	0.021022	1	0
SORCS1	114815	broad.mit.edu	37	10	108923814	108923814	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:108923814C>G	ENST00000263054.6	-	1	478	c.471G>C	c.(469-471)gaG>gaC	p.E157D	SORCS1_ENST00000344440.6_Missense_Mutation_p.E157D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	157						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCAGTCTCAGCTCCTCCATCC	0.637000													8	105					0	0	0.003080	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470037	161470037	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:161470037G>A	ENST00000392142.4	+	3	881	c.733G>A	c.(733-735)Gag>Aag	p.E245K	MAP3K4_ENST00000348824.7_Missense_Mutation_p.E245K|MAP3K4_ENST00000366920.2_Missense_Mutation_p.E245K|MAP3K4_ENST00000366919.2_Missense_Mutation_p.E245K	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	245					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAAAGACAGGGAGCAAAGAGG	0.423000													10	69					0	0	0.008291	0	0
ZNF660	285349	broad.mit.edu	37	3	44636579	44636579	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:44636579G>C	ENST00000322734.2	+	3	1227	c.894G>C	c.(892-894)aaG>aaC	p.K298N	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CCCACACTAAGGAGAAACCCT	0.403000													10	87					0	0	0.008291	0	0
CKAP5	9793	broad.mit.edu	37	11	46830991	46830991	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:46830991C>G	ENST00000529230.1	-	7	869	c.823G>C	c.(823-825)Gaa>Caa	p.E275Q	CKAP5_ENST00000415402.1_Missense_Mutation_p.E275Q|CKAP5_ENST00000312055.5_Missense_Mutation_p.E275Q|CKAP5_ENST00000354558.3_Missense_Mutation_p.E275Q			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	275					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GAAAGGATTTCTACAGCTTCT	0.303000													3	157					0	0	0.004672	0	0
DCDC1	341019	broad.mit.edu	37	11	30938442	30938442	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:30938442T>G	ENST00000597505.1	-	24	3426	c.3427A>C	c.(3427-3429)Aat>Cat	p.N1143H	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.N222H			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGTTCCACATTTTCAAAGAGC	0.413000													7	62					0	0	0.003080	0	0
NSD1	64324	broad.mit.edu	37	5	176721339	176721339	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:176721339G>A	ENST00000439151.2	+	23	7015	c.6970G>A	c.(6970-6972)Gga>Aga	p.G2324R	NSD1_ENST00000361032.4_Missense_Mutation_p.G2221R|NSD1_ENST00000347982.4_Missense_Mutation_p.G2055R|NSD1_ENST00000354179.4_Missense_Mutation_p.G2055R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2324	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGCAGTGGCAGGACCAAGACC	0.597000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			12	50					0	0	0.028581	0	0
FAM47A	158724	broad.mit.edu	37	X	34148121	34148121	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:34148121C>A	ENST00000346193.3	-	1	2326	c.2275G>T	c.(2275-2277)Gcc>Tcc	p.A759S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	759										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCCCTCCTGGCAAACAGCCTT	0.408000													15	344					3.52763e-06	4.15212e-06	0.004990	1	0
APC	324	broad.mit.edu	37	5	112179485	112179485	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:112179485G>T	ENST00000457016.1	+	16	8574	c.8194G>T	c.(8194-8196)Gac>Tac	p.D2732Y	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.D2732Y|APC_ENST00000257430.4_Missense_Mutation_p.D2732Y			P25054	APC_HUMAN	adenomatous polyposis coli	2732	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGATGCCCCTGACCAAAAAGG	0.433000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			8	126					0.000157383	0.000175071	0.003080	1	0
SKAP2	8935	broad.mit.edu	37	7	26778484	26778484	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:26778484C>A	ENST00000345317.2	-	6	712	c.399G>T	c.(397-399)ctG>ctT	p.L133L	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	133	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						ATTCAAATCCCAGAAAGCTGT	0.348000													5	239					0.000602214	0.000657304	0.014758	1	0
FOSB	2354	broad.mit.edu	37	19	45976089	45976089	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:45976089C>T	ENST00000353609.3	+	4	1428	c.836C>T	c.(835-837)tCt>tTt	p.S279F	ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592811.1_Intron|FOSB_ENST00000443841.2_Missense_Mutation_p.S136F|FOSB_ENST00000592436.1_Intron|FOSB_ENST00000585836.1_Missense_Mutation_p.S204F|FOSB_ENST00000591858.1_Missense_Mutation_p.S240F|FOSB_ENST00000417353.2_Missense_Mutation_p.S243F|FOSB_ENST00000586615.1_Missense_Mutation_p.S230F	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	279					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CTGACGGCTTCTCTCTTTACA	0.617000													7	50					0	0	0.006214	0	0
SPARCL1	8404	broad.mit.edu	37	4	88400665	88400665	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:88400665G>A	ENST00000418378.1	-	11	2454	c.1883C>T	c.(1882-1884)aCc>aTc	p.T628I	SPARCL1_ENST00000282470.6_Missense_Mutation_p.T628I|SPARCL1_ENST00000503414.1_Missense_Mutation_p.T503I	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	628	EF-hand.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AAAGAAACGGGTTATGCAGTG	0.463000													7	160					0	0	0.003080	0	0
CD84	8832	broad.mit.edu	37	1	160520773	160520773	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:160520773G>T	ENST00000368054.3	-	5	848	c.813C>A	c.(811-813)acC>acA	p.T271T	CD84_ENST00000368048.3_Silent_p.T282T|CD84_ENST00000534968.1_Silent_p.T157T|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000311224.4_Silent_p.T288T|CD84_ENST00000368051.3_Intron	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	288					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGCTGGCTGGGTGTTCCTTG	0.453000													6	209					2.0095e-06	2.39435e-06	0.001984	1	0
LPPR4	9890	broad.mit.edu	37	1	99772444	99772444	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:99772444C>T	ENST00000370185.3	+	7	2667	c.2170C>T	c.(2170-2172)Cgc>Tgc	p.R724C	LPPR4_ENST00000457765.1_Missense_Mutation_p.R666C|LPPR4_ENST00000370184.1_Missense_Mutation_p.R566C	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		724							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TTCTTCTTCCCGCGACTCCAC	0.507000													7	80					0	0	0.001984	0	0
RBM19	9904	broad.mit.edu	37	12	114395746	114395746	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:114395746C>G	ENST00000545145.2	-	6	759	c.681G>C	c.(679-681)gaG>gaC	p.E227D	RBM19_ENST00000261741.5_Missense_Mutation_p.E227D|RBM19_ENST00000392561.3_Missense_Mutation_p.E227D	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	227	Poly-Glu.				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)					CTTCACTTTCCTCTTCCTCCG	0.562000													8	202					0	0	0.006214	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37464964	37464964	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:37464964T>A	ENST00000002125.4	+	4	402	c.362T>A	c.(361-363)gTg>gAg	p.V121E	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.V94E|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		TTCCAGCTGGTGGAACTGGGC	0.398000													31	126					0	0	0.017118	0	0
THSD7B	80731	broad.mit.edu	37	2	138208560	138208560	+	Silent	SNP	A	A	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:138208560A>C	ENST00000409968.1	+	15	3283	c.3105A>C	c.(3103-3105)ggA>ggC	p.G1035G	THSD7B_ENST00000272643.3_Silent_p.G1035G|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.G1004G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACAATGGAGGACGACCATGTC	0.383000													4	63					0	0	0.009096	0	0
NLE1	54475	broad.mit.edu	37	17	33463193	33463193	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:33463193C>A	ENST00000586869.1	-	8	1149	c.130G>T	c.(130-132)Gtg>Ttg	p.V44L	NLE1_ENST00000442241.4_Missense_Mutation_p.V336L|NLE1_ENST00000360831.5_Missense_Mutation_p.V294L			Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	336						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CTCACCCGCACGAGGTTGTAT	0.552000													19	179					1.01871e-10	1.34236e-10	0.008871	1	0
PPM1A	5494	broad.mit.edu	37	14	60749471	60749471	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:60749471G>T	ENST00000395076.4	+	2	480	c.50G>T	c.(49-51)gGg>gTg	p.G17V	PPM1A_ENST00000325658.3_Missense_Mutation_p.G17V|PPM1A_ENST00000325642.3_Missense_Mutation_p.G90V|PPM1A_ENST00000529574.1_Missense_Mutation_p.G17V	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	17					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		AATGCCCAGGGGCAGGGTAAT	0.473000													7	395					8.12818e-05	9.14683e-05	0.001984	1	0
INPP1	3628	broad.mit.edu	37	2	191235776	191235776	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:191235776G>A	ENST00000392329.2	+	7	1548	c.848G>A	c.(847-849)cGc>cAc	p.R283H	INPP1_ENST00000322522.4_Missense_Mutation_p.R283H|INPP1_ENST00000541441.1_Missense_Mutation_p.R283H	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	283					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	TGTGGAGATCGCATATTTGGG	0.468000													6	289					0	0	0.021553	0	0
TCTN3	26123	broad.mit.edu	37	10	97440280	97440280	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:97440280C>A	ENST00000265993.8	-	13	1782	c.1539G>T	c.(1537-1539)ccG>ccT	p.P513P	TCTN3_ENST00000430368.1_Silent_p.P365P|TCTN3_ENST00000371217.4_Silent_p.P526P	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3	513					apoptosis	integral to membrane		p.P513P(2)|p.P335P(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		CATGAGCTTGCGGGTTGGACA	0.463000													21	232					1.2644e-06	1.51903e-06	0.010504	1	0
WNK3	65267	broad.mit.edu	37	X	54319353	54319353	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:54319353G>T	ENST00000354646.2	-	10	2443	c.2005C>A	c.(2005-2007)Cca>Aca	p.P669T	WNK3_ENST00000375169.3_Missense_Mutation_p.P669T|WNK3_ENST00000375159.2_Missense_Mutation_p.P669T	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	669					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ACAGTTAATGGGGAAACCTGG	0.428000													8	133					5.4927e-09	7.0046e-09	0.004482	1	0
STIL	6491	broad.mit.edu	37	1	47716840	47716840	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:47716840T>A	ENST00000360380.3	-	18	4195	c.3832A>T	c.(3832-3834)Aaa>Taa	p.K1278*	STIL_ENST00000396221.2_Nonsense_Mutation_p.K1261*|STIL_ENST00000371877.3_Nonsense_Mutation_p.K1279*|STIL_ENST00000243182.6_Nonsense_Mutation_p.K1278*|STIL_ENST00000337817.5_Nonsense_Mutation_p.K1278*			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1278					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTGAGACGTTTTACATCTAAG	0.383000													19	184					0	0	0.007413	0	0
ENO1	2023	broad.mit.edu	37	1	8923352	8923352	+	Missense_Mutation	SNP	G	G	A	rs143592223		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:8923352G>A	ENST00000234590.4	-	10	1237	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	373	Substrate binding (By similarity).				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGTCTCCCCCGAACGATGAGA	0.547000											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	25					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179665315	179665315	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:179665315G>C	ENST00000589042.1	-	4	614	c.390C>G	c.(388-390)atC>atG	p.I130M	TTN_ENST00000360870.5_Missense_Mutation_p.I130M|TTN_ENST00000591111.1_Missense_Mutation_p.I130M|TTN_ENST00000460472.2_Missense_Mutation_p.I130M|TTN_ENST00000342175.6_Missense_Mutation_p.I130M|TTN_ENST00000342992.6_Missense_Mutation_p.I130M|TTN_ENST00000359218.5_Missense_Mutation_p.I130M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	130	Ig-like 2.						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)			CAGGTGTAGGGATTCCAGTCA	0.517000													5	151					0	0	0.014758	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188797	140188797	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:140188797G>A	ENST00000530339.1	+	1	2025	c.2025G>A	c.(2023-2025)gcG>gcA	p.A675A	PCDHA4_ENST00000512229.2_Silent_p.A675A|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.A675A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGACAGGCGCCAAAGGCCT	0.652000													3	36					0	0	0.004672	0	0
ABCF1	23	broad.mit.edu	37	6	30545196	30545196	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:30545196G>A	ENST00000326195.8	+	2	196	c.84G>A	c.(82-84)gtG>gtA	p.V28V	ABCF1_ENST00000396515.4_Silent_p.V28V|ABCF1_ENST00000376545.3_Silent_p.V28V	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	28					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						ACAAAGTGGTGAAGAAAGGGA	0.408000													8	72					0	0	0.006214	0	0
SLC16A12	387700	broad.mit.edu	37	10	91195875	91195875	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:91195875C>T	ENST00000341233.4	-	7	1530	c.1140G>A	c.(1138-1140)gcG>gcA	p.A380A	SLC16A12_ENST00000371790.4_Silent_p.A410A	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	380						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						CCACACCAAGCGCTGATGACA	0.498000													5	45					0	0	0.014758	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607525	84607525	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr9:84607525C>A	ENST00000344803.2	+	4	2187	c.2140C>A	c.(2140-2142)Cgt>Agt	p.R714S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GTCATTGCTACGTCCTCAGAG	0.473000													12	83					1.05317e-09	1.35497e-09	0.020292	1	0
EXOSC3	51010	broad.mit.edu	37	9	37780832	37780832	+	Silent	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr9:37780832G>C	ENST00000327304.5	-	4	684	c.672C>G	c.(670-672)ctC>ctG	p.L224L	EXOSC3_ENST00000396521.3_3'UTR|EXOSC3_ENST00000490516.1_5'UTR|RP11-613M10.9_ENST00000540557.1_Intron	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	224					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		CCAGTGGATAGAGTTTTCCCA	0.388000													5	58					0	0	0.021553	0	0
GAS2L3	283431	broad.mit.edu	37	12	100994247	100994247	+	Translation_Start_Site	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:100994247G>A	ENST00000537247.1	+	0	492				GAS2L3_ENST00000547754.1_Missense_Mutation_p.D36N|GAS2L3_ENST00000266754.5_Missense_Mutation_p.D36N|GAS2L3_ENST00000539410.1_Missense_Mutation_p.D36N			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3						cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TTGTCAGTACGATGAGTGGAT	0.448000													7	282					0	0	0.001984	0	0
UGT3A2	167127	broad.mit.edu	37	5	36037907	36037907	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:36037907T>A	ENST00000282507.3	-	6	1388	c.1287A>T	c.(1285-1287)gaA>gaT	p.E429D	UGT3A2_ENST00000513300.1_Missense_Mutation_p.E395D|UGT3A2_ENST00000545528.1_Missense_Mutation_p.E127D	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	429						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCTCTTGTCTTCCATGATTT	0.403000													11	410					0	0	0.013537	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73490891	73490891	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:73490891G>A	ENST00000556143.1	-	2	1046	c.326C>T	c.(325-327)tCt>tTt	p.S109F	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.S109F|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.S109F	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	109						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GTTACCCCCAGAATGAGTCCT	0.502000													10	196					0	0	0.013537	0	0
PSG4	5672	broad.mit.edu	37	19	43708284	43708284	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:43708284G>A	ENST00000405312.3	-	2	421	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	PSG4_ENST00000244295.9_Missense_Mutation_p.L62F|PSG4_ENST00000433626.2_Missense_Mutation_p.L62F	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	62	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TAGCCAGCAAGATTCTGGGGC	0.448000													15	809					0	0	0.007413	0	0
DST	667	broad.mit.edu	37	6	56485137	56485137	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:56485137T>C	ENST00000370765.6	-	23	3802	c.3695A>G	c.(3694-3696)gAa>gGa	p.E1232G	DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1574					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGGTTCTCTTCCACGGCAGC	0.458000													5	166					0	0	0.004482	0	0
RCL1	10171	broad.mit.edu	37	9	4833157	4833157	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr9:4833157G>A	ENST00000381750.4	+	4	611	c.388G>A	c.(388-390)Gat>Aat	p.D130N		NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	130					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		TTCATAGGTTGATGTTCTTAA	0.343000													8	253					0	0	0.006214	0	0
LELP1	149018	broad.mit.edu	37	1	153177288	153177288	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:153177288T>G	ENST00000368747.1	+	2	215	c.105T>G	c.(103-105)tgT>tgG	p.C35W		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	35	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCCAGCTGTTTAAAGAAGC	0.507000													5	352					0	0	0.014758	0	0
GPR125	166647	broad.mit.edu	37	4	22389682	22389682	+	Silent	SNP	G	G	A	rs146569496		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:22389682G>A	ENST00000334304.5	-	19	3881	c.3612C>T	c.(3610-3612)aaC>aaT	p.N1204N	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1204					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TAGGTAAGCCGTTCTGCACGC	0.522000													21	219					0	0	0.016522	0	0
BTC	685	broad.mit.edu	37	4	75681169	75681169	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:75681169T>G	ENST00000395743.3	-	3	541	c.181A>C	c.(181-183)Aag>Cag	p.K61Q		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	61					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			CCTTTCCGCTTTGATTGTGTG	0.438000													28	432					0	0	0.019004	0	0
FOXN2	3344	broad.mit.edu	37	2	48573489	48573489	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:48573489C>G	ENST00000340553.3	+	3	397	c.136C>G	c.(136-138)Cta>Gta	p.L46V		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	46					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GAAGGCCACTCTAGTGGACAG	0.473000													17	196					0	0	0.014323	0	0
LINC00969	440993	broad.mit.edu	37	3	195410689	195410689	+	RNA	SNP	C	C	T	rs6583275	by1000genomes	TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886																											CTTTGAGGTGCACTGGAGGAA	0.567000													3	12					0	0	0.009096	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848786	92848786	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:92848786T>C	ENST00000341723.4	-	1	109	c.22A>G	c.(22-24)Act>Gct	p.T8A	HEPACAM2_ENST00000453812.2_Intron|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.T8A|HEPACAM2_ENST00000394468.2_Intron	NM_198151.1	NP_937794.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	0						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GAAAGGAAAGTTGTGAAGACC	0.498000													19	275					0	0	0.010504	0	0
MUC6	4588	broad.mit.edu	37	11	1019491	1019491	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:1019491G>T	ENST00000421673.2	-	30	3864	c.3814C>A	c.(3814-3816)Cct>Act	p.P1272T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1272	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTTGGTCTAGGTGGTTCTGCA	0.632000													7	26					2.0095e-06	2.39435e-06	0.001984	1	0
GRAMD1C	54762	broad.mit.edu	37	3	113627906	113627906	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:113627906C>G	ENST00000358160.4	+	9	1383	c.891C>G	c.(889-891)gaC>gaG	p.D297E	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.D130E|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.D92E	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	297						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGTCACTGGACTTGAATAAAA	0.323000													5	129					0	0	0.003080	0	0
CSMD1	64478	broad.mit.edu	37	8	3267071	3267071	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:3267071C>A	ENST00000602557.1	-	14	2176	c.1621G>T	c.(1621-1623)Ggc>Tgc	p.G541C	CSMD1_ENST00000400186.3_Missense_Mutation_p.G541C|CSMD1_ENST00000542608.1_Missense_Mutation_p.G540C|CSMD1_ENST00000539096.1_Missense_Mutation_p.G540C|CSMD1_ENST00000537824.1_Missense_Mutation_p.G540C|CSMD1_ENST00000602723.1_Missense_Mutation_p.G541C|CSMD1_ENST00000520002.1_Missense_Mutation_p.G541C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	541	Sushi 3.					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)		AAACTGCTGCCCGTCCGCTTC	0.498000													6	33					3.59834e-05	4.09158e-05	0.021553	1	0
MACF1	23499	broad.mit.edu	37	1	39800952	39800952	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:39800952G>A	ENST00000564288.1	+	37	9469	c.8692G>A	c.(8692-8694)Gct>Act	p.A2898T	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.A2935T|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.A2903T|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.A1338T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2903					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAAGAAGTGGCTAGAAATAA	0.338000													9	102					0	0	0.006214	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57068421	57068421	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:57068421G>A	ENST00000532437.1	-	9	5377	c.5066C>T	c.(5065-5067)tCc>tTc	p.S1689F	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1689F			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1689	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GACCTTGCAGGATTTCGAACG	0.612000													11	492					0	0	0.013537	0	0
THBS4	7060	broad.mit.edu	37	5	79351616	79351616	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:79351616C>G	ENST00000350881.2	+	3	491	c.301C>G	c.(301-303)Cgt>Ggt	p.R101G	THBS4_ENST00000511733.1_Missense_Mutation_p.R10G|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	101	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	p.R101S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGCCATCCTCCGTTACCTGAA	0.527000													8	380					0	0	0.006214	0	0
KLRB1	3820	broad.mit.edu	37	12	9751094	9751094	+	Splice_Site	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:9751094C>T	ENST00000229402.3	-	4	461		c.e4+1			NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1						cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						TAATGATTTACCAATTCATCC	0.353000													45	164					0	0	0.014410	0	0
PBX2	5089	broad.mit.edu	37	6	32155858	32155858	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:32155858C>T	ENST00000375050.4	-	4	889	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	207							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CGTTCCATCTCTTTGGGGGCC	0.597000													4	9					0	0	0.009096	0	0
ABLIM3	22885	broad.mit.edu	37	5	148586662	148586662	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:148586662C>A	ENST00000506113.1	+	5	1022	c.540C>A	c.(538-540)acC>acA	p.T180T	RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Silent_p.T180T|ABLIM3_ENST00000504238.1_Silent_p.T180T|ABLIM3_ENST00000326685.7_Silent_p.T180T|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Silent_p.T180T|ABLIM3_ENST00000508983.1_Silent_p.T180T			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	180	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCCAGACCTGCAGCGTCA	0.617000													5	92					8.12818e-05	9.14683e-05	0.001984	1	0
CRNKL1	51340	broad.mit.edu	37	20	20017996	20017996	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr20:20017996T>G	ENST00000377340.2	-	14	2381	c.2350A>C	c.(2350-2352)Aag>Cag	p.K784Q	CRNKL1_ENST00000536226.1_Missense_Mutation_p.K623Q|CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000377327.4_Missense_Mutation_p.K772Q	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	784					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTTCTTCTCTTCTTGACTTTC	0.448000													28	482					0	0	0.006320	0	0
VMP1	81671	broad.mit.edu	37	17	57917156	57917156	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:57917156G>C	ENST00000262291.4	+	12	1415	c.1105G>C	c.(1105-1107)Gaa>Caa	p.E369Q	VMP1_ENST00000536180.1_Missense_Mutation_p.E272Q|VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000537567.1_Missense_Mutation_p.E235Q|VMP1_ENST00000539763.1_Missense_Mutation_p.E177Q|VMP1_ENST00000545362.1_Missense_Mutation_p.E313Q	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	369					autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		p.E369Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						CTGGATGTTTGAAAAGTTGGT	0.388000													11	519					0	0	0.013537	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42858653	42858653	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:42858653C>T	ENST00000455697.1	-	7	1468	c.1183G>A	c.(1183-1185)Ggc>Agc	p.G395S	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.G395S|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.G395S|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.G395S|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.G395S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	395					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TCTACTCTGCCTTTCCAAAAT	0.453000													4	51					0	0	0.009096	0	0
OR8H2	390151	broad.mit.edu	37	11	55872529	55872529	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:55872529G>T	ENST00000313503.1	+	1	11	c.11G>T	c.(10-12)aGa>aTa	p.R4I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATGATGGGTAGAAGGAATAAC	0.458000										HNSCC(53;0.14)			39	531					2.61675e-31	3.82415e-31	0.013114	1	0
ZBBX	79740	broad.mit.edu	37	3	167045801	167045801	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:167045801T>A	ENST00000392766.2	-	11	1131	c.791A>T	c.(790-792)gAa>gTa	p.E264V	ZBBX_ENST00000392767.2_Missense_Mutation_p.E264V|ZBBX_ENST00000455345.2_Missense_Mutation_p.E264V|ZBBX_ENST00000392764.1_Missense_Mutation_p.E235V|ZBBX_ENST00000307529.5_Missense_Mutation_p.E264V|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	264						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						ACTTAACACTTCCTGAAAGGA	0.363000													19	616					0	0	0.016522	0	0
LRRC10	376132	broad.mit.edu	37	12	70004207	70004207	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:70004207C>A	ENST00000361484.3	-	1	735	c.412G>T	c.(412-414)Gat>Tat	p.D138Y		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	138						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CAGACCACATCCGGCAGCTGG	0.632000													6	39					6.31663e-08	7.8373e-08	0.024245	1	0
ZNF677	342926	broad.mit.edu	37	19	53741285	53741285	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:53741285C>G	ENST00000333952.4	-	5	860	c.695G>C	c.(694-696)tGt>tCt	p.C232S	ZNF677_ENST00000598513.1_Missense_Mutation_p.C232S			Q86XU0	ZN677_HUMAN	zinc finger protein 677	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GTTTTTGACACAAGGAGGAAG	0.343000													14	69					0	0	0.016723	0	0
POLR3B	55703	broad.mit.edu	37	12	106853047	106853047	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:106853047A>G	ENST00000228347.4	+	22	2693	c.2471A>G	c.(2470-2472)aAa>aGa	p.K824R	POLR3B_ENST00000539066.1_Missense_Mutation_p.K766R	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	824					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTAGAAAACAAACAAGTGCTT	0.398000													10	406					0	0	0.008291	0	0
COL11A1	1301	broad.mit.edu	37	1	103491099	103491099	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:103491099C>T	ENST00000358392.2	-	7	1321	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K	COL11A1_ENST00000353414.4_Missense_Mutation_p.R284K|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.R323K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	323	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGAAACATGCCTAGGAGCTTC	0.328000													10	120					0	0	0.016723	0	0
CSMD3	114788	broad.mit.edu	37	8	113353829	113353829	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:113353829C>G	ENST00000297405.5	-	42	6773	c.6529G>C	c.(6529-6531)Gtt>Ctt	p.V2177L	CSMD3_ENST00000352409.3_Missense_Mutation_p.V2107L|CSMD3_ENST00000343508.3_Missense_Mutation_p.V2137L|CSMD3_ENST00000455883.2_Missense_Mutation_p.V2073L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2177	CUB 12.					integral to membrane|plasma membrane		p.V2177I(1)		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						CGGCCAATAACAGTACTAGTT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	99					0	0	0.009096	0	0
GGCT	79017	broad.mit.edu	37	7	30538475	30538475	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:30538475G>A	ENST00000275428.4	-	3	501	c.367C>T	c.(367-369)Cga>Tga	p.R123*	GGCT_ENST00000598361.1_Nonsense_Mutation_p.R38*|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000409436.1_Nonsense_Mutation_p.R123*|GGCT_ENST00000409144.1_Intron	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	123					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						AGATAACTTCGACAGGTTATT	0.368000													15	226					0	0	0.020292	0	0
C2orf71	388939	broad.mit.edu	37	2	29295044	29295044	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:29295044T>A	ENST00000331664.5	-	1	2083	c.2084A>T	c.(2083-2085)gAa>gTa	p.E695V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	695					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTTGCCTTGTTCGTCCTCAGG	0.532000													7	132					0	0	0.003080	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517838	158517838	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:158517838G>T	ENST00000302617.3	-	1	57	c.58C>A	c.(58-60)Ctg>Atg	p.L20M		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGAAACCCCAGAAGAATGAAA	0.453000													20	239					1.40151e-16	1.94381e-16	0.010504	1	0
MAGI2	9863	broad.mit.edu	37	7	77789536	77789536	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:77789536C>A	ENST00000354212.4	-	16	2904	c.2651G>T	c.(2650-2652)aGc>aTc	p.S884I	MAGI2_ENST00000522391.1_Missense_Mutation_p.S884I|MAGI2_ENST00000419488.1_Missense_Mutation_p.S870I	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	884						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCGTGGAGAGCTGTGGTGGGT	0.572000													12	35					4.7546e-09	6.08115e-09	0.028581	1	0
B3GALT1	8708	broad.mit.edu	37	2	168725727	168725727	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:168725727C>A	ENST00000305861.1	+	2	529	c.178C>A	c.(178-180)Cca>Aca	p.P60T	B3GALT1_ENST00000392690.2_Missense_Mutation_p.P60T|AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	60					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						ACCTATCAACCCACATTCTTT	0.413000													11	168					9.70103e-10	1.25365e-09	0.008291	1	0
SI	6476	broad.mit.edu	37	3	164741463	164741463	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:164741463G>T	ENST00000264382.3	-	26	3056	c.2994C>A	c.(2992-2994)gaC>gaA	p.D998E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	998	Isomaltase.				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)	TTAGTTGGAGGTCAGCTGTTA	0.408000										HNSCC(35;0.089)			23	217					2.98393e-07	3.66573e-07	0.016522	1	0
SLC24A4	123041	broad.mit.edu	37	14	92908475	92908475	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:92908475G>T	ENST00000532405.1	+	5	662	c.436G>T	c.(436-438)Gct>Tct	p.A146S	SLC24A4_ENST00000298877.1_Missense_Mutation_p.A129S|SLC24A4_ENST00000531433.1_Missense_Mutation_p.A146S|SLC24A4_ENST00000393265.2_Missense_Mutation_p.A82S|SLC24A4_ENST00000351924.5_Missense_Mutation_p.A129S			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	146						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CACCTTCATGGCTGCAGGAAG	0.542000													5	72					0.014758	0.0153392	0.014758	1	0
LPPR4	9890	broad.mit.edu	37	1	99753629	99753629	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:99753629C>G	ENST00000370185.3	+	2	828	c.331C>G	c.(331-333)Ccg>Gcg	p.P111A	LPPR4_ENST00000457765.1_Missense_Mutation_p.P111A	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		111							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCTTAGCATGCCGTACATTGA	0.463000													26	243					0	0	0.024334	0	0
CCL17	6361	broad.mit.edu	37	16	57448996	57448996	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:57448996G>A	ENST00000219244.4	+	3	203	c.74G>A	c.(73-75)cGa>cAa	p.R25Q		NM_002987.2	NP_002978.1	Q92583	CCL17_HUMAN	chemokine (C-C motif) ligand 17	25					cell-cell signaling|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|multicellular organismal development	extracellular space	chemokine activity			breast(1)|endometrium(1)|lung(2)|ovary(1)	5						CCTGCAGCTCGAGGGACCAAT	0.607000													28	153					0	0	0.008361	0	0
SSTR4	6754	broad.mit.edu	37	20	23016843	23016843	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr20:23016843G>T	ENST00000255008.3	+	1	787	c.723G>T	c.(721-723)gtG>gtT	p.V241V	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	241					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGCGCGCCGTGGCCCTGCGCG	0.632000													6	33					0.000442599	0.000487363	0.006214	1	0
KANTR	102723508	broad.mit.edu	37	X	53172478	53172478	+	RNA	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:53172478G>A	ENST00000604849.1	+	0	1041																											TTGATGTCGCGCACAATCTCC	0.587000													3	29					0	0	0.014758	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44032291	44032291	+	Splice_Site	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:44032291A>T	ENST00000260605.8	+	12	1000		c.e12-1		DYNC2LI1_ENST00000605786.1_Splice_Site|DYNC2LI1_ENST00000443170.3_Splice_Site	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1							apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTGTAATTTCAGAGTATTAAC	0.408000													8	129					0	0	0.004482	0	0
IGSF10	285313	broad.mit.edu	37	3	151164733	151164733	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:151164733C>A	ENST00000282466.3	-	4	3035	c.3036G>T	c.(3034-3036)agG>agT	p.R1012S		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1012					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTTCCTCTGCCTCCCAAAGC	0.498000													32	166					1.06647e-15	1.46514e-15	0.017118	1	0
NR2E1	7101	broad.mit.edu	37	6	108501542	108501542	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:108501542G>A	ENST00000368986.4	+	6	1366	c.658G>A	c.(658-660)Gat>Aat	p.D220N	NR2E1_ENST00000368983.3_Missense_Mutation_p.D257N	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	220	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GCTTTTGGAAGATGCTTGGAG	0.318000													11	124					0	0	0.013537	0	0
CENPF	1063	broad.mit.edu	37	1	214803903	214803903	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:214803903C>G	ENST00000366955.3	+	9	1389	c.1221C>G	c.(1219-1221)ttC>ttG	p.F407L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	407	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCGTTCTTTCCAAACACTGG	0.532000													127	514					0	0	0.014410	0	0
CHN1	1123	broad.mit.edu	37	2	175677131	175677131	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:175677131C>G	ENST00000409900.3	-	9	1105	c.792G>C	c.(790-792)aaG>aaC	p.K264N	CHN1_ENST00000409597.1_Missense_Mutation_p.K80N|CHN1_ENST00000409156.3_Missense_Mutation_p.K238N|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Missense_Mutation_p.K139N	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	264					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.K264N(1)|p.K139N(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AGCTGTACACCTTTTTGACAT	0.443000			T	TAF15	extraskeletal myxoid chondrosarcoma								22	162					0	0	0.012319	0	0
SHBG	6462	broad.mit.edu	37	17	7536069	7536069	+	Splice_Site	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:7536069G>A	ENST00000380450.4	+	7	883		c.e7-1		SHBG_ENST00000572182.1_Intron|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000572262.1_Splice_Site|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000575903.1_Splice_Site|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000575314.1_Splice_Site|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000340624.5_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin						hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	ACACTCTGCAGAAGGTGGTGT	0.587000											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	79					0	0	0.021553	0	0
MTG2	26164	broad.mit.edu	37	20	60772967	60772967	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr20:60772967G>A	ENST00000370823.3	+	4	430	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		TTTCAGTGGAGAAGATGGAGG	0.572000													13	68					0	0	0.024245	0	0
KCNH7	90134	broad.mit.edu	37	2	163241380	163241380	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:163241380A>T	ENST00000332142.5	-	13	2879	c.2780T>A	c.(2779-2781)tTt>tAt	p.F927Y		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	927					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTTCTCTTCAAAGTGTCTCTT	0.373000													70	429					0	0	0.014410	0	0
SAMD9	54809	broad.mit.edu	37	7	92731848	92731848	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:92731848C>A	ENST00000379958.2	-	3	3832	c.3563G>T	c.(3562-3564)cGg>cTg	p.R1188L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1188						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTATCATACCGCCTTTTTGA	0.358000													57	248					1.78197e-24	2.56544e-24	0.014410	1	0
APOL3	80833	broad.mit.edu	37	22	36537717	36537717	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr22:36537717G>C	ENST00000424878.2	-	4	2288	c.140C>G	c.(139-141)tCa>tGa	p.S47*	APOL3_ENST00000349314.2_Nonsense_Mutation_p.S247*|APOL3_ENST00000397293.2_Nonsense_Mutation_p.S176*|APOL3_ENST00000397287.2_Nonsense_Mutation_p.S47*|APOL3_ENST00000361710.2_Nonsense_Mutation_p.S47*			O95236	APOL3_HUMAN	apolipoprotein L, 3	247					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						AGCTTCTGCTGATGATGTGTA	0.537000													17	41					0	0	0.006122	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685665	108685665	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:108685665T>A	ENST00000397688.2	-	3	1438	c.1069A>T	c.(1069-1071)Atg>Ttg	p.M357L	CMKLR1_ENST00000550402.1_Missense_Mutation_p.M359L|CMKLR1_ENST00000552995.1_Missense_Mutation_p.M357L|CMKLR1_ENST00000412676.1_Missense_Mutation_p.M359L|CMKLR1_ENST00000312143.7_Missense_Mutation_p.M359L	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	359					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CTCTCATTCATTGATGACATC	0.507000													6	195					0	0	0.001984	0	0
PROKR1	10887	broad.mit.edu	37	2	68882357	68882357	+	Silent	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:68882357C>G	ENST00000303786.3	+	3	1251	c.831C>G	c.(829-831)cgC>cgG	p.R277R	PROKR1_ENST00000394342.2_Silent_p.R277R			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	277						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGAGGCTGCGCTGCCGCAGGA	0.622000													4	48					0	0	0.021553	0	0
ZFP90	146198	broad.mit.edu	37	16	68598296	68598296	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:68598296C>A	ENST00000570495.1	+	5	1898	c.1606C>A	c.(1606-1608)Cga>Aga	p.R536R	ZFP90_ENST00000563169.2_Silent_p.R536R|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Silent_p.R536R			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	536					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGCCTTTAGTCGACGCTCATC	0.418000													15	128					1.99824e-07	2.46176e-07	0.004990	1	0
OR5M8	219484	broad.mit.edu	37	11	56258693	56258693	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:56258693C>T	ENST00000327216.2	-	1	178	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGGAGCCAGGCGTTGGCCTGG	0.502000													11	375					0	0	0.013537	0	0
MYOCD	93649	broad.mit.edu	37	17	12656043	12656043	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:12656043C>A	ENST00000425538.1	+	10	1638	c.1438C>A	c.(1438-1440)Ccc>Acc	p.P480T	MYOCD_ENST00000343344.4_Missense_Mutation_p.P480T|MYOCD_ENST00000395988.1_Missense_Mutation_p.P384T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	480	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGATGCCTCCCCCTCCTTCGG	0.632000													4	74					3.59834e-05	4.09158e-05	0.021553	1	0
PATE1	160065	broad.mit.edu	37	11	125616206	125616206	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:125616206A>T	ENST00000305738.5	+	1	19	c.7A>T	c.(7-9)Aag>Tag	p.K3*	PATE1_ENST00000437148.2_Nonsense_Mutation_p.K3*	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	3						extracellular region				large_intestine(1)|lung(5)	6						caaaatggacaagtccctctt	0.532000													74	381					0	0	0.014410	0	0
CADPS2	93664	broad.mit.edu	37	7	122303495	122303495	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:122303495C>G	ENST00000334010.7	-	3	1003	c.582G>C	c.(580-582)ttG>ttC	p.L194F	CADPS2_ENST00000412584.2_Missense_Mutation_p.L194F|CADPS2_ENST00000449022.2_Missense_Mutation_p.L194F|CADPS2_ENST00000313070.7_Missense_Mutation_p.L194F	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	194					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCTCTTTGCTCAAGCCATCTA	0.423000													10	219					0	0	0.008291	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125262125	125262125	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:125262125T>C	ENST00000431078.1	+	8	1680	c.1316T>C	c.(1315-1317)aTc>aCc	p.I439T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	439	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTAGCTGAAATCCTCACAGGT	0.493000													3	30					0	0	0.009096	0	0
SPATA33	124045	broad.mit.edu	37	16	89735693	89735693	+	Splice_Site	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:89735693G>C	ENST00000301031.4	+	3	208		c.e3-1		SPATA33_ENST00000579310.1_Splice_Site	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1			spermatogenesis associated 33																		TTTTCCTCTAGAGAAACCTGA	0.458000													13	35					0	0	0.024245	0	0
FAT3	120114	broad.mit.edu	37	11	92523332	92523332	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:92523332C>A	ENST00000298047.6	+	7	4576	c.4559C>A	c.(4558-4560)aCt>aAt	p.T1520N	FAT3_ENST00000409404.2_Missense_Mutation_p.T1520N|FAT3_ENST00000525166.1_Missense_Mutation_p.T1370N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1520	Cadherin 14.				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)				GTGCTCTATACTGCCGAGAGG	0.488000										TCGA Ovarian(4;0.039)			54	268					6.8176e-14	9.27832e-14	0.014410	1	0
RPS19BP1	91582	broad.mit.edu	37	22	39925559	39925559	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr22:39925559C>T	ENST00000334678.3	-	4	465	c.349G>A	c.(349-351)Gag>Aag	p.E117K		NM_194326.2	NP_919307.1	Q86WX3	AROS_HUMAN	ribosomal protein S19 binding protein 1	117						nucleolus|nucleoplasm				endometrium(1)|kidney(1)|large_intestine(1)	3	Melanoma(58;0.04)					ACGGTGCCCTCAGCCTTCTTC	0.622000											OREG0026578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	57					0	0	0.009096	0	0
TNKS2	80351	broad.mit.edu	37	10	93596694	93596694	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:93596694A>T	ENST00000371627.4	+	13	1845	c.1466A>T	c.(1465-1467)aAt>aTt	p.N489I		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	489					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TCATTAGGTAATTCAGAGGCA	0.403000													8	71					0	0	0.013537	0	0
CHI3L1	1116	broad.mit.edu	37	1	203149613	203149613	+	Silent	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:203149613G>C	ENST00000255409.3	-	8	1004	c.879C>G	c.(877-879)acC>acG	p.T293T		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	293					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						AGTAGGCAAGGGTCCCTGCCT	0.572000													12	72					0	0	0.006122	0	0
PSG2	5670	broad.mit.edu	37	19	43585123	43585123	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:43585123G>A	ENST00000406487.1	-	2	438	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	114	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GCGTCCTCCCGGGTGACATTC	0.438000													26	673					0	0	0.017118	0	0
TEKT3	64518	broad.mit.edu	37	17	15231371	15231371	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:15231371G>A	ENST00000395930.1	-	4	787	c.601C>T	c.(601-603)Cat>Tat	p.H201Y	TEKT3_ENST00000338696.2_Missense_Mutation_p.H201Y	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	201					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTTTCTCGATGAAATAGACAT	0.403000													8	368					0	0	0.008291	0	0
CAPN6	827	broad.mit.edu	37	X	110494909	110494909	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:110494909T>C	ENST00000324068.1	-	6	928	c.761A>G	c.(760-762)tAt>tGt	p.Y254C	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	254	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AGTCATGGTATAGGTATGGCC	0.458000													52	2114					0	0	0.010504	0	0
FAM196A	642938	broad.mit.edu	37	10	128974376	128974376	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:128974376G>T	ENST00000522781.1	-	4	839	c.284C>A	c.(283-285)tCc>tAc	p.S95Y	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.S95Y	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	95										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTTGGGGATGGACCTGCGTGC	0.607000													10	40					1.76689e-08	2.22716e-08	0.006214	1	0
SALL4	57167	broad.mit.edu	37	20	50408104	50408104	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr20:50408104C>A	ENST00000217086.4	-	2	1029	c.918G>T	c.(916-918)ctG>ctT	p.L306L	SALL4_ENST00000395997.3_Silent_p.L306L|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	306					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCCTGGGGACAGGGAGCTGG	0.622000													4	58					0.00909568	0.00951061	0.009096	1	0
SLITRK2	84631	broad.mit.edu	37	X	144905858	144905858	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:144905858T>A	ENST00000370490.1	+	1	6170	c.1915T>A	c.(1915-1917)Tta>Ata	p.L639I	SLITRK2_ENST00000434188.2_Missense_Mutation_p.L639I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.L639I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.L639I|SLITRK2_ENST00000428560.2_Missense_Mutation_p.L639I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	639						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGCTGGTTTATTCGTCTT	0.433000													5	139					0	0	0.014758	0	0
ABCB1	5243	broad.mit.edu	37	7	87133606	87133606	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:87133606T>G	ENST00000265724.3	-	29	4213	c.3796A>C	c.(3796-3798)Atc>Ctc	p.I1266L	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.I1202L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1266	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GAAAAATAGATGCCTTTCTGT	0.443000													9	139					0	0	0.008291	0	0
FER1L6	654463	broad.mit.edu	37	8	125131932	125131932	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:125131932C>T	ENST00000522917.1	+	41	5681	c.5475C>T	c.(5473-5475)atC>atT	p.I1825I	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.I1825I	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1825						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAAAGTAcatcatcattgctt	0.483000													10	263					0	0	0.008291	0	0
FOXO1	2308	broad.mit.edu	37	13	41134738	41134738	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:41134738G>T	ENST00000379561.5	-	2	1274	c.890C>A	c.(889-891)gCa>gAa	p.A297E		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	297					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GCCAGGGCTTGCAGGCCATTT	0.527000													10	103					0.000978159	0.00106231	0.010729	1	0
TTF2	8458	broad.mit.edu	37	1	117634030	117634030	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:117634030G>A	ENST00000369466.3	+	16	2713	c.2669G>A	c.(2668-2670)aGa>aAa	p.R890K		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	890					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCATTCAGTAGAGGTAAGCTG	0.383000													8	107					0	0	0.006214	0	0
DOCK2	1794	broad.mit.edu	37	5	169188531	169188531	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:169188531T>A	ENST00000256935.8	+	25	2536	c.2456T>A	c.(2455-2457)cTg>cAg	p.L819Q	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.L311Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	819					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCCAACTCCTGTATGAGTTC	0.488000													9	508					0	0	0.006214	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003562	34003562	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr21:34003562C>T	ENST00000382491.3	-	28	4448	c.4324G>A	c.(4324-4326)Gat>Aat	p.D1442N	SYNJ1_ENST00000433931.2_Missense_Mutation_p.D1528N|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D1489N	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1489	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACACCAAAATCCTCTTCTTCC	0.423000													47	269					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179434379	179434379	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:179434379C>A	ENST00000589042.1	-	326	76704	c.76480G>T	c.(76480-76482)Gac>Tac	p.D25494Y	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D23853Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16429Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D16621Y|TTN_ENST00000342992.6_Missense_Mutation_p.D22926Y|TTN_ENST00000359218.5_Missense_Mutation_p.D16554Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23853	Fibronectin type-III 85.						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)			CCAGGGACGTCAGCATGTTCT	0.368000													4	26					0.00909568	0.00951061	0.009096	1	0
CYP51A1	1595	broad.mit.edu	37	7	91763538	91763538	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:91763538G>A	ENST00000003100.8	-	1	306	c.141C>T	c.(139-141)gtC>gtT	p.V47V	LRRD1_ENST00000422722.1_Intron|CYP51A1_ENST00000450723.1_Intron	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	41					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	GGATCAGGTAGACCAGGCTGA	0.672000											OREG0018160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	31					0	0	0.004672	0	0
BMP5	653	broad.mit.edu	37	6	55739583	55739583	+	Silent	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:55739583T>A	ENST00000370830.3	-	1	779	c.81A>T	c.(79-81)ggA>ggT	p.G27G	BMP5_ENST00000446683.2_Silent_p.G27G	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	27					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCCCAAACCTCCTTTTGCAT	0.403000													7	556					0	0	0.004482	0	0
NR2E1	7101	broad.mit.edu	37	6	108501529	108501529	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:108501529G>A	ENST00000368986.4	+	6	1353	c.645G>A	c.(643-645)ctG>ctA	p.L215L	NR2E1_ENST00000368983.3_Silent_p.L252L	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	215	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TATGACAGCTGATGCTTTTGG	0.313000													11	107					0	0	0.010729	0	0
HEPH	9843	broad.mit.edu	37	X	65417599	65417599	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:65417599G>T	ENST00000519389.1	+	10	1917	c.1738G>T	c.(1738-1740)Ggt>Tgt	p.G580C	HEPH_ENST00000374727.3_Missense_Mutation_p.G529C|HEPH_ENST00000441993.2_Missense_Mutation_p.G529C|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000343002.2_Missense_Mutation_p.G526C|HEPH_ENST00000336279.5_Missense_Mutation_p.G259C			Q9BQS7	HEPH_HUMAN	hephaestin	526	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCCTCATGCCGGTCCCACTGC	0.527000													4	185					0.00116845	0.00125644	0.021553	1	0
GUCA2B	2981	broad.mit.edu	37	1	42620408	42620408	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:42620408C>A	ENST00000372581.1	+	2	178	c.148C>A	c.(148-150)Cag>Aag	p.Q50K		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	50					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTGGAGGCACAGTGGGCACC	0.642000													7	84					0.000157383	0.000175071	0.003080	1	0
SLC39A10	57181	broad.mit.edu	37	2	196573497	196573497	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:196573497C>T	ENST00000409086.3	+	5	1779	c.1504C>T	c.(1504-1506)Cta>Tta	p.L502L	SLC39A10_ENST00000359634.5_Silent_p.L502L|SLC39A10_ENST00000541054.1_Silent_p.L52L	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	502					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ACTTGTTGCTCTAGGAGGCAT	0.328000													22	187					0	0	0.016522	0	0
ATP7B	540	broad.mit.edu	37	13	52548417	52548417	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:52548417C>G	ENST00000242839.4	-	2	1095	c.939G>C	c.(937-939)agG>agC	p.R313S	ATP7B_ENST00000344297.5_Missense_Mutation_p.R313S|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.R313S|ATP7B_ENST00000542656.1_Missense_Mutation_p.R281S|ATP7B_ENST00000400370.3_Missense_Mutation_p.R313S|ATP7B_ENST00000418097.2_Missense_Mutation_p.R313S|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	313	HMA 3.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CCTCGATAGCCCTCTGCAGAG	0.507000									Wilson disease				8	117					0	0	0.008291	0	0
COL22A1	169044	broad.mit.edu	37	8	139737681	139737681	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:139737681G>A	ENST00000303045.6	-	24	2588	c.2142C>T	c.(2140-2142)ggC>ggT	p.G714G	COL22A1_ENST00000435777.1_Silent_p.G714G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	714	Collagen-like 5.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTCCTGGAGGGCCCTGTAGAG	0.577000										HNSCC(7;0.00092)			25	103					0	0	0.008361	0	0
CACNA1G	8913	broad.mit.edu	37	17	48699064	48699064	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:48699064T>C	ENST00000354983.4	+	33	6239	c.5867T>C	c.(5866-5868)aTt>aCt	p.I1956T	CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.I1990T|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.I1919T|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.I1979T|CACNA1G_ENST00000507896.1_Intron	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1990					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACGTCAGAGATTGTGTCTGAA	0.522000													3	14					0	0	0.009096	0	0
STAB2	55576	broad.mit.edu	37	12	104099498	104099498	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:104099498C>A	ENST00000388887.2	+	37	4193	c.3989C>A	c.(3988-3990)aCc>aAc	p.T1330N		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1330					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTGTGAGAACCGTCATTGTG	0.408000													21	90					6.21321e-17	8.63111e-17	0.016522	1	0
DET1	55070	broad.mit.edu	37	15	89074105	89074105	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:89074105C>A	ENST00000564406.1	-	3	1025	c.865G>T	c.(865-867)Gac>Tac	p.D289Y	DET1_ENST00000444300.1_Missense_Mutation_p.D289Y|DET1_ENST00000268148.8_Missense_Mutation_p.D278Y|DET1_ENST00000558413.1_3'UTR	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	278						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GTCTGACTGTCCCGCTGTACC	0.527000													7	34					5.18039e-06	6.06468e-06	0.003080	1	0
OR4K17	390436	broad.mit.edu	37	14	20586168	20586168	+	Silent	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:20586168T>G	ENST00000315543.4	+	1	603	c.603T>G	c.(601-603)ggT>ggG	p.G201G		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCTTTTGTGGTCCCAATGTGG	0.433000													11	523					0	0	0.010729	0	0
SCRN3	79634	broad.mit.edu	37	2	175292571	175292571	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:175292571A>T	ENST00000272732.6	+	8	1305	c.1223A>T	c.(1222-1224)aAa>aTa	p.K408I	SCRN3_ENST00000409673.3_Missense_Mutation_p.K401I|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	408					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			CAGTGTACAAAAGATGAAATT	0.328000													4	32					0	0	0.009096	0	0
GLYAT	10249	broad.mit.edu	37	11	58478151	58478151	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:58478151A>G	ENST00000344743.3	-	5	541	c.400T>C	c.(400-402)Tat>Cat	p.Y134H	GLYAT_ENST00000529732.1_Missense_Mutation_p.Y134H|GLYAT_ENST00000278400.3_Missense_Mutation_p.Y134H	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	134					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GCTGCCATATAGAGAATGCGT	0.418000													25	192					0	0	0.023175	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812752	31812752	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr21:31812752A>G	ENST00000334067.3	+	1	156	c.107A>G	c.(106-108)tAt>tGt	p.Y36C		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	36						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						AATGCCATCTATTCTCCAAAT	0.493000													9	182					0	0	0.004482	0	0
TNFRSF8	943	broad.mit.edu	37	1	12164497	12164497	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:12164497C>T	ENST00000263932.2	+	4	552	c.330C>T	c.(328-330)ccC>ccT	p.P110P	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	110					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AATGTCGACCCGGCATGTTCT	0.577000													4	58					0	0	0.009096	0	0
ARHGAP6	395	broad.mit.edu	37	X	11162018	11162018	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:11162018C>A	ENST00000380718.1	-	11	3130	c.2258G>T	c.(2257-2259)cGg>cTg	p.R753L	ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000303025.6_Intron	NM_006125.2	NP_006116.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	0					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGAGAAGGTCCGAAGAGCCCC	0.532000											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	523					1.99824e-07	2.46176e-07	0.004990	1	0
POLR1A	25885	broad.mit.edu	37	2	86258661	86258661	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:86258661C>T	ENST00000263857.6	-	30	4748	c.4370G>A	c.(4369-4371)cGa>cAa	p.R1457Q	POLR1A_ENST00000409681.1_Missense_Mutation_p.R1457Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1457					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTGGGTCTTTCGAGCACCTTC	0.592000													27	459					0	0	0.009535	0	0
USP7	7874	broad.mit.edu	37	16	9009138	9009138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:9009138G>A	ENST00000344836.4	-	10	1249	c.1051C>T	c.(1051-1053)Cag>Tag	p.Q351*	USP7_ENST00000535863.1_Nonsense_Mutation_p.Q252*|USP7_ENST00000381886.4_Nonsense_Mutation_p.Q335*	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	351					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ATACTTAGCTGGATATCATAA	0.308000													4	160					0	0	0.021553	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73186481	73186481	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:73186481T>G	ENST00000286657.4	-	7	1088	c.1052A>C	c.(1051-1053)gAc>gCc	p.D351A		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	351	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATTGCATGGTCATGGTGTTC	0.443000													7	195					0	0	0.003080	0	0
GPR4	2828	broad.mit.edu	37	19	46094980	46094980	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:46094980G>T	ENST00000323040.4	-	2	1089	c.145C>A	c.(145-147)Cgc>Agc	p.R49S	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	49						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		AGCTCGTTGCGCTGTTGCACC	0.622000													5	52					0.00116845	0.00125644	0.021553	1	0
TTN	7273	broad.mit.edu	37	2	179610805	179610805	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:179610805C>T	ENST00000360870.5	-	46	16544	c.16322G>A	c.(16321-16323)cGa>cAa	p.R5441Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8948	Ig-like 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R5441Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGACATTTCGAATTTTAAG	0.408000													34	459					0	0	0.015359	0	0
IMPG2	50939	broad.mit.edu	37	3	100992538	100992538	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:100992538C>A	ENST00000193391.7	-	7	902	c.715G>T	c.(715-717)Ggt>Tgt	p.G239C		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	239	SEA 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATCTGTTCACCTGCTGGTTTT	0.393000													10	88					0.010729	0.011205	0.010729	1	0
RYR2	6262	broad.mit.edu	37	1	237886547	237886547	+	Silent	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:237886547T>C	ENST00000366574.2	+	74	10991	c.10674T>C	c.(10672-10674)ctT>ctC	p.L3558L	RYR2_ENST00000360064.6_Silent_p.L3556L|RYR2_ENST00000542537.1_Silent_p.L3542L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3558					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAAATGTGCTTTTTCATCTTG	0.353000													5	121					0	0	0.021553	0	0
CABIN1	23523	broad.mit.edu	37	22	24445599	24445599	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr22:24445599C>T	ENST00000398319.2	+	7	958	c.573C>T	c.(571-573)taC>taT	p.Y191Y	CABIN1_ENST00000405822.2_Silent_p.Y191Y|CABIN1_ENST00000263119.5_Silent_p.Y191Y	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	191					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATTGCCGGTACAGCAAAGGGC	0.502000													6	205					0	0	0.003080	0	0
POM121L12	285877	broad.mit.edu	37	7	53104216	53104216	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:53104216C>A	ENST00000408890.4	+	1	868	c.852C>A	c.(850-852)gcC>gcA	p.A284A		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	284										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCTCCTTCGCCCTCGAGGTCA	0.622000													7	78					0.00198382	0.00212535	0.001984	1	0
NCKAP5	344148	broad.mit.edu	37	2	133539801	133539801	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:133539801G>C	ENST00000409261.1	-	14	4956	c.4583C>G	c.(4582-4584)tCc>tGc	p.S1528C	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1528C	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1528							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTGGTTTTGGAGATGTCCAT	0.418000													20	105					0	0	0.010504	0	0
FLG	2312	broad.mit.edu	37	1	152280985	152280985	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:152280985G>C	ENST00000368799.1	-	3	6412	c.6377C>G	c.(6376-6378)tCc>tGc	p.S2126C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2126	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGCCTGGAGCTGTCTTG	0.572000									Ichthyosis				56	189					0	0	0.014410	0	0
TEX14	56155	broad.mit.edu	37	17	56659003	56659003	+	Missense_Mutation	SNP	G	G	A	rs142618829		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:56659003G>A	ENST00000389934.3	-	20	3377	c.3260C>T	c.(3259-3261)tCc>tTc	p.S1087F	TEX14_ENST00000349033.5_Intron|TEX14_ENST00000240361.8_Missense_Mutation_p.S1093F	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1093						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCAGTCGAGGAGTAAAAATA	0.363000													7	89					0	0	0.004482	0	0
BLK	640	broad.mit.edu	37	8	11418838	11418838	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:11418838C>A	ENST00000259089.4	+	11	1649	c.1057C>A	c.(1057-1059)Cgc>Agc	p.R353S	BLK_ENST00000529894.1_Missense_Mutation_p.R282S	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	353	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		ATACATTGAGCGCATGAATTC	0.577000													5	7					0.00116845	0.00125644	0.021553	1	0
NIPBL	25836	broad.mit.edu	37	5	37006594	37006594	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:37006594G>A	ENST00000282516.8	+	17	4490	c.3991G>A	c.(3991-3993)Gat>Aat	p.D1331N	NIPBL_ENST00000448238.2_Missense_Mutation_p.D1331N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1331					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GTACATTGAGGATGTAATTGA	0.358000													14	65					0	0	0.016723	0	0
MAP7D2	256714	broad.mit.edu	37	X	20074798	20074798	+	Splice_Site	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:20074798C>A	ENST00000379651.3	-	4	502	c.484_splice	c.e4+1	p.A162_splice	MAP7D2_ENST00000452324.3_Splice_Site_p.A118_splice|MAP7D2_ENST00000443379.3_Splice_Site_p.A162_splice|MAP7D2_ENST00000543767.1_Splice_Site_p.G33_splice|MAP7D2_ENST00000379643.5_Splice_Site_p.A162_splice	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	162										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CTACACTCACCATCATGTCCT	0.587000													4	94					0.000602214	0.000657304	0.014758	1	0
MYOC	4653	broad.mit.edu	37	1	171605559	171605559	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:171605559A>G	ENST00000037502.5	-	3	1080	c.1021T>C	c.(1021-1023)Tcc>Ccc	p.S341P		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	341	Olfactomedin-like.		S -> P (in GLC1A).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACAGTTCTGGACTCAGCGCCC	0.537000													9	119					0	0	0.010729	0	0
FAM13C	220965	broad.mit.edu	37	10	61014147	61014147	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:61014147G>C	ENST00000373867.3	-	12	1509	c.1044C>G	c.(1042-1044)atC>atG	p.I348M	FAM13C_ENST00000422313.2_Missense_Mutation_p.I431M|FAM13C_ENST00000435852.2_Missense_Mutation_p.I431M|FAM13C_ENST00000373868.2_Missense_Mutation_p.I431M|FAM13C_ENST00000419214.2_Missense_Mutation_p.I333M|FAM13C_ENST00000442566.3_Missense_Mutation_p.I452M|FAM13C_ENST00000468840.2_Missense_Mutation_p.I348M|FAM13C_ENST00000277705.6_Missense_Mutation_p.I452M	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	431										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGATTTGCTTGATAATTCTGT	0.358000													39	546					0	0	0.014410	0	0
TESPA1	9840	broad.mit.edu	37	12	55356979	55356979	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:55356979A>T	ENST00000524622.1	-	7	950	c.289T>A	c.(289-291)Ttc>Atc	p.F97I	TESPA1_ENST00000316577.8_Missense_Mutation_p.F235I|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_Missense_Mutation_p.F97I|TESPA1_ENST00000531122.1_Missense_Mutation_p.F97I|TESPA1_ENST00000449076.1_Missense_Mutation_p.F235I	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	235																	TAGAGACAGAAGAAGGCATCA	0.463000													18	66					0	0	0.008871	0	0
IMPG2	50939	broad.mit.edu	37	3	101038618	101038618	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:101038618G>A	ENST00000193391.7	-	2	331	c.144C>T	c.(142-144)ctC>ctT	p.L48L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	48					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTTCAGGCAGGAGAAAAGAAA	0.418000													48	275					0	0	0.014410	0	0
ACSL1	2180	broad.mit.edu	37	4	185681563	185681563	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:185681563T>C	ENST00000515030.1	-	18	2055	c.1730A>G	c.(1729-1731)tAc>tGc	p.Y577C	ACSL1_ENST00000437665.3_Missense_Mutation_p.Y406C|ACSL1_ENST00000281455.2_Missense_Mutation_p.Y577C|ACSL1_ENST00000454703.2_Missense_Mutation_p.Y406C|ACSL1_ENST00000507295.1_Missense_Mutation_p.Y543C|ACSL1_ENST00000504342.1_Missense_Mutation_p.Y577C|ACSL1_ENST00000513317.1_Missense_Mutation_p.Y577C			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	577					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACTTCGCATGTAGATATTTTC	0.438000													121	612					0	0	0.014410	0	0
OR5L2	26338	broad.mit.edu	37	11	55595398	55595398	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:55595398A>T	ENST00000378397.1	+	1	704	c.704A>T	c.(703-705)cAc>cTc	p.H235L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GAGAGCAGGCACAAAGCTTTC	0.493000										HNSCC(27;0.073)			41	242					0	0	0.009718	0	0
PIK3R5	23533	broad.mit.edu	37	17	8792182	8792182	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:8792182C>T	ENST00000447110.1	-	10	1046	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	PIK3R5_ENST00000584803.1_Missense_Mutation_p.E308K|PIK3R5_ENST00000581552.1_Missense_Mutation_p.E308K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	308				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGCTCCTGTTCCTTGAGCAGG	0.587000													5	4					0	0	0.003080	0	0
FAM86EP	348926	broad.mit.edu	37	4	3952865	3952865	+	RNA	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:3952865C>A	ENST00000281228.8	-	0	242				FAM86EP_ENST00000313946.8_RNA																							CCATAACTGACCTTTTTCATG	0.557000													3	29					0.004672	0.0049325	0.004672	1	0
CACNA1C	775	broad.mit.edu	37	12	2714278	2714278	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:2714278C>T	ENST00000399655.1	+	23	3257	c.2992C>T	c.(2992-2994)Cga>Tga	p.R998*	CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.R998*|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.R1018*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.R1018*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.R998*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.R1023*	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1018					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GAAGATCTTGCGAGTCCTGCG	0.557000													20	177					0	0	0.016522	0	0
SEMA3A	10371	broad.mit.edu	37	7	83606484	83606484	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:83606484C>A	ENST00000265362.3	-	15	1995	c.1681G>T	c.(1681-1683)Gga>Tga	p.G561*	SEMA3A_ENST00000436949.1_Nonsense_Mutation_p.G561*	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	561					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGTGGGTCTCCATTTCTTATA	0.353000													41	144					6.08268e-21	8.61466e-21	0.014410	1	0
GZMA	3001	broad.mit.edu	37	5	54403954	54403954	+	Splice_Site	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:54403954T>A	ENST00000274306.6	+	4	394	c.357_splice	c.e4-1	p.L120_splice		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	120	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TTCCAACAGCTGATGGAAAAA	0.338000													5	65					0	0	0.021553	0	0
OR10A5	144124	broad.mit.edu	37	11	6867339	6867339	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:6867339G>T	ENST00000299454.4	+	1	457	c.426G>T	c.(424-426)cgG>cgT	p.R142R	OR10A5_ENST00000379831.2_Silent_p.R146R			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAAGGACACGGGCCAAACTGG	0.537000													5	151					0.000274275	0.00030355	0.004482	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43896101	43896101	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:43896101G>T	ENST00000389420.3	-	4	720	c.721C>A	c.(721-723)Cca>Aca	p.P241T	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P241T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	241						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTTTCAATGGTACATTTTTT	0.328000													7	126					2.0095e-06	2.39435e-06	0.001984	1	0
PTBP2	58155	broad.mit.edu	37	1	97235391	97235391	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:97235391G>T	ENST00000236228.6	+	4	330	c.248G>T	c.(247-249)gGt>gTt	p.G83V	PTBP2_ENST00000394184.3_Missense_Mutation_p.G94V|PTBP2_ENST00000426398.2_Missense_Mutation_p.G83V|PTBP2_ENST00000370198.1_Missense_Mutation_p.G83V|PTBP2_ENST00000370197.1_Missense_Mutation_p.G83V|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000541987.1_Missense_Mutation_p.G52V	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	83	RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TTACCTTTTGGTAAGGTGACC	0.383000													23	230					3.73808e-20	5.2684e-20	0.027356	1	0
NR2F1	7025	broad.mit.edu	37	5	92923849	92923849	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:92923849C>A	ENST00000327111.3	+	2	2377	c.690C>A	c.(688-690)gcC>gcA	p.A230A		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	230					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TCTTCAGCGCCGTCGAGTGGG	0.637000													6	38					0.000157383	0.000175071	0.003080	1	0
TNN	63923	broad.mit.edu	37	1	175092570	175092570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:175092570G>A	ENST00000239462.4	+	12	2798	c.2685G>A	c.(2683-2685)tgG>tgA	p.W895*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	895	Fibronectin type-III 8.				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)		TGACTGACTGGGTGACGGAGA	0.493000													18	320					0	0	0.012319	0	0
RYR3	6263	broad.mit.edu	37	15	33954735	33954735	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:33954735C>A	ENST00000389232.4	+	35	5074	c.5004C>A	c.(5002-5004)tcC>tcA	p.S1668S	RYR3_ENST00000415757.3_Silent_p.S1668S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1668	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAGGTTCTCCACCCCTTGCT	0.577000													10	54					4.3838e-07	5.36277e-07	0.016723	1	0
NIT2	56954	broad.mit.edu	37	3	100058772	100058772	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:100058772C>A	ENST00000394140.3	+	3	331	c.240C>A	c.(238-240)ctC>ctA	p.L80L		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	80	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						GCATATATCTCATTGGAGGTA	0.428000													18	126					2.37509e-13	3.20729e-13	0.010504	1	0
POTEE	445582	broad.mit.edu	37	2	131976449	131976449	+	Silent	SNP	C	C	A	rs142484775		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:131976449C>A	ENST00000356920.5	+	1	568	c.474C>A	c.(472-474)atC>atA	p.I158I	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.I158I|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	158							ATP binding	p.I158I(1)									AGGATCTCATCGTCATGCTCA	0.577000													11	132					1.5842e-08	2.0085e-08	0.016723	1	0
GRPEL2	134266	broad.mit.edu	37	5	148730755	148730755	+	Silent	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:148730755A>T	ENST00000329271.3	+	4	698	c.588A>T	c.(586-588)gcA>gcT	p.A196A	RP11-394O4.4_ENST00000521295.1_RNA|GRPEL2_ENST00000507562.1_3'UTR|GRPEL2_ENST00000416916.2_3'UTR	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	196					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCGTGGCATTAGTAAGAC	0.527000													19	160					0	0	0.008871	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057976	63057976	+	Silent	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:63057976A>T	ENST00000332793.6	+	1	341	c.339A>T	c.(337-339)acA>acT	p.T113T	SLC22A10_ENST00000526800.1_Silent_p.T61T|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_5'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	113						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGCAGACACAGAACCCTGTG	0.493000													10	191					0	0	0.024245	0	0
LCLAT1	253558	broad.mit.edu	37	2	30791025	30791025	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:30791025T>C	ENST00000309052.4	+	6	934	c.725T>C	c.(724-726)gTa>gCa	p.V242A	LCLAT1_ENST00000540623.1_Missense_Mutation_p.V204A|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000319406.4_Missense_Mutation_p.V242A|LCLAT1_ENST00000379509.3_Missense_Mutation_p.V204A|LCLAT1_ENST00000359433.1_Missense_Mutation_p.V242A	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	242					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						ACTTTTGTGGTAGACCGTCTA	0.328000													7	137					0	0	0.004482	0	0
OR11H4	390442	broad.mit.edu	37	14	20711551	20711551	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:20711551C>A	ENST00000315409.2	+	1	654	c.601C>A	c.(601-603)Cca>Aca	p.P201T		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATCCTGTGCCCCAGCTCCCAT	0.428000													40	197					5.04308e-16	6.96121e-16	0.025465	1	0
ZNF287	57336	broad.mit.edu	37	17	16456113	16456113	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:16456113C>T	ENST00000395824.1	-	6	1960	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E	ZNF287_ENST00000395825.3_Missense_Mutation_p.G448E			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	441					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GGGTTTCTCTCCAGTATGAAT	0.443000													8	204					0	0	0.004482	0	0
ATP13A5	344905	broad.mit.edu	37	3	193032855	193032855	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:193032855C>A	ENST00000342358.4	-	18	2181	c.2064G>T	c.(2062-2064)ctG>ctT	p.L688L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	688					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGAGAAGTCCCAGAAATGTTA	0.373000													31	190					2.47511e-08	3.11534e-08	0.008361	1	0
NLRP5	126206	broad.mit.edu	37	19	56515383	56515383	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:56515383G>T	ENST00000390649.3	+	2	364	c.364G>T	c.(364-366)Gcc>Tcc	p.A122S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	122	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGCATCGCTGGCCTGGGCTAC	0.483000													9	40					0.000442599	0.000487363	0.006214	1	0
SATL1	340562	broad.mit.edu	37	X	84363343	84363343	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:84363343G>A	ENST00000509231.1	-	1	711	c.632C>T	c.(631-633)cCa>cTa	p.P211L	SATL1_ENST00000332921.5_Missense_Mutation_p.P24L|SATL1_ENST00000395409.3_Missense_Mutation_p.P24L			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	24	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						ACTCATGTCTGGGTGGCTTGG	0.552000													5	105					0	0	0.014758	0	0
ATP13A2	23400	broad.mit.edu	37	1	17323644	17323644	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:17323644C>T	ENST00000452699.1	-	12	1240	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.A351T|ATP13A2_ENST00000326735.8_Missense_Mutation_p.A356T|ATP13A2_ENST00000502860.1_5'UTR	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	356					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TCCGGCAGTGCCGTCTTCAGC	0.632000													3	38					0	0	0.004672	0	0
PRSS36	146547	broad.mit.edu	37	16	31155149	31155149	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:31155149C>A	ENST00000268281.4	-	7	788	c.730G>T	c.(730-732)Ggg>Tgg	p.G244W	PRSS36_ENST00000418068.2_Missense_Mutation_p.G244W|PRSS36_ENST00000569305.1_Missense_Mutation_p.G244W	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	244	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						AGGGGCCCCCCAGAGTCACCC	0.592000													4	21					3.59834e-05	4.09158e-05	0.021553	1	0
ZNF287	57336	broad.mit.edu	37	17	16456543	16456543	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:16456543C>T	ENST00000395824.1	-	6	1530	c.913G>A	c.(913-915)Gat>Aat	p.D305N	ZNF287_ENST00000395825.3_Missense_Mutation_p.D305N			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	298					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TCTGTAGGATCATATTCTTGT	0.328000													5	244					0	0	0.014758	0	0
RIMS2	9699	broad.mit.edu	37	8	104897965	104897965	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:104897965G>T	ENST00000507740.1	+	2	798	c.562G>T	c.(562-564)Gat>Tat	p.D188Y	RIMS2_ENST00000406091.3_Missense_Mutation_p.D380Y|RIMS2_ENST00000436393.2_Missense_Mutation_p.D158Y|RIMS2_ENST00000262231.10_Missense_Mutation_p.D188Y|RIMS2_ENST00000522174.1_3'UTR	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	411					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.D188N(1)|p.D416N(1)|p.D158N(1)		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)			TGATCTGGAAGATTCCAGGAT	0.443000										HNSCC(12;0.0054)			17	99					5.35267e-07	6.52965e-07	0.007413	1	0
RNF144A	9781	broad.mit.edu	37	2	7164541	7164541	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:7164541G>T	ENST00000320892.6	+	7	993	c.551G>T	c.(550-552)cGc>cTc	p.R184L	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	184						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CCCATCAAGCGCTGCCCCAAG	0.572000													3	54					0.004672	0.0049325	0.004672	1	0
PRDM9	56979	broad.mit.edu	37	5	23527714	23527714	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:23527714G>T	ENST00000296682.3	+	11	2699	c.2517G>T	c.(2515-2517)cgG>cgT	p.R839R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	839					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGTGTGGGCGGGGCTTTCGCA	0.592000										HNSCC(3;0.000094)			51	260					7.06795e-37	1.03639e-36	0.014410	1	0
CYP4V2	285440	broad.mit.edu	37	4	187118744	187118744	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:187118744G>T	ENST00000378802.4	+	5	966	c.662G>T	c.(661-663)cGt>cTt	p.R221L		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	221					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.R221H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GAGTATGTCCGTGCAGTTTAT	0.333000													7	113					1.06961e-07	1.32147e-07	0.003080	1	0
DNAH11	8701	broad.mit.edu	37	7	21742342	21742342	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:21742342G>T	ENST00000328843.6	+	38	6247	c.6216G>T	c.(6214-6216)tgG>tgT	p.W2072C	DNAH11_ENST00000409508.3_Missense_Mutation_p.W2065C			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2072	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTACGACTGGGGACTTCGTG	0.378000									Kartagener syndrome				7	76					5.4927e-09	7.0046e-09	0.004482	1	0
FERD3L	222894	broad.mit.edu	37	7	19184768	19184768	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:19184768T>C	ENST00000275461.3	-	1	276	c.218A>G	c.(217-219)gAc>gGc	p.D73G	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	73					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						ctcttctccgtccccctggtc	0.647000													5	108					0	0	0.014758	0	0
ZBTB38	253461	broad.mit.edu	37	3	141162117	141162117	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:141162117G>A	ENST00000514251.1	+	4	1166	c.887G>A	c.(886-888)aGa>aAa	p.R296K	ZBTB38_ENST00000321464.5_Missense_Mutation_p.R297K|ZBTB38_ENST00000441582.2_Missense_Mutation_p.R296K			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	296					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AATCAAGAAAGAAGTCCACAA	0.428000													13	306					0	0	0.019004	0	0
LRP1B	53353	broad.mit.edu	37	2	140997090	140997090	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:140997090T>C	ENST00000389484.3	-	88	14307	c.13336A>G	c.(13336-13338)Atc>Gtc	p.I4446V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4446					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCACAATGATGGCAATGCTT	0.308000										TSP Lung(27;0.18)			7	63					0	0	0.003080	0	0
CENPO	79172	broad.mit.edu	37	2	25040609	25040609	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:25040609C>T	ENST00000380834.2	+	7	1262	c.837C>T	c.(835-837)ccC>ccT	p.P279P	CENPO_ENST00000260662.1_Silent_p.P279P|CENPO_ENST00000473706.1_Silent_p.P273P|CENPO_ENST00000395845.2_3'UTR			Q9BU64	CENPO_HUMAN	centromere protein O	279					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GTACGAAGCCCTTGCATCAAG	0.413000													3	57					0	0	0.004672	0	0
ITIH5	80760	broad.mit.edu	37	10	7697622	7697622	+	Missense_Mutation	SNP	G	G	A	rs139355305		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:7697622G>A	ENST00000256861.6	-	2	185	c.107C>T	c.(106-108)cCg>cTg	p.P36L	ITIH5_ENST00000397146.2_Missense_Mutation_p.P36L|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.P36L	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	36	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GACTTGCCTCGGGACCCTGAG	0.403000													5	63					0	0	0.003080	0	0
ZFP42	132625	broad.mit.edu	37	4	188923993	188923993	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:188923993C>G	ENST00000326866.4	+	4	440	c.32C>G	c.(31-33)aCa>aGa	p.T11R	ZFP42_ENST00000509524.1_Missense_Mutation_p.T11R	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	11					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CGGGCAAAGACAAGACACCAG	0.537000													14	86					0	0	0.004990	0	0
COL4A2	1284	broad.mit.edu	37	13	111134907	111134907	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:111134907G>A	ENST00000360467.5	+	32	3109	c.2803G>A	c.(2803-2805)Gga>Aga	p.G935R		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	935	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)			AGGCATGCCTGGACTCAAAGG	0.512000													5	142					0	0	0.014758	0	0
BSX	390259	broad.mit.edu	37	11	122850098	122850098	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:122850098G>T	ENST00000343035.2	-	2	378	c.330C>A	c.(328-330)cgC>cgA	p.R110R		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	110										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GGGCTTTGCGGCGGCGGCAGT	0.652000													12	45					3.41278e-10	4.44325e-10	0.004990	1	0
TCP11L2	255394	broad.mit.edu	37	12	106715430	106715430	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:106715430G>C	ENST00000546625.1	+	5	740	c.581G>C	c.(580-582)cGa>cCa	p.R194P	TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000299045.3_Missense_Mutation_p.R194P|TCP11L2_ENST00000547153.1_Missense_Mutation_p.R194P			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	194								p.R194Q(1)		endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						GCTCCCGTGCGAGATAATGAT	0.483000													7	108					0	0	0.003080	0	0
ZBTB40	9923	broad.mit.edu	37	1	22834577	22834577	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:22834577A>C	ENST00000404138.1	+	8	1955	c.1444A>C	c.(1444-1446)Att>Ctt	p.I482L	ZBTB40_ENST00000374651.4_Missense_Mutation_p.I370L|ZBTB40_ENST00000375647.4_Missense_Mutation_p.I482L	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	482					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGACAACCAGATTTTATTAAA	0.428000													3	102					0	0	0.021553	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003756	34003756	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr21:34003756G>A	ENST00000382491.3	-	28	4254	c.4130C>T	c.(4129-4131)tCa>tTa	p.S1377L	SYNJ1_ENST00000433931.2_Missense_Mutation_p.S1463L|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.S1424L	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1424	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AGTTGCCTCTGATTCTTCAGA	0.463000													12	66					0	0	0.013537	0	0
UBC	7316	broad.mit.edu	37	12	125397091	125397091	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:125397091C>G	ENST00000536769.1	-	1	2803	c.1227G>C	c.(1225-1227)aaG>aaC	p.K409N	UBC_ENST00000339647.5_Missense_Mutation_p.K409N|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.K333N			P0CG48	UBC_HUMAN	ubiquitin C	409	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGTCTTGGATCTTTGCCTTGA	0.522000													10	200					0	0	0.020292	0	0
LTN1	26046	broad.mit.edu	37	21	30319883	30319883	+	Silent	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr21:30319883T>A	ENST00000361371.4	-	19	3540	c.3390A>T	c.(3388-3390)ctA>ctT	p.L1130L	LTN1_ENST00000389194.2_Silent_p.L1176L	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1130							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AAAATGGACATAGACTTTGAA	0.318000													7	16					0	0	0.001984	0	0
ATP7B	540	broad.mit.edu	37	13	52548394	52548394	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:52548394C>T	ENST00000242839.4	-	2	1118	c.962G>A	c.(961-963)gGg>gAg	p.G321E	ATP7B_ENST00000344297.5_Missense_Mutation_p.G321E|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.G321E|ATP7B_ENST00000542656.1_Missense_Mutation_p.G289E|ATP7B_ENST00000400370.3_Missense_Mutation_p.G321E|ATP7B_ENST00000418097.2_Missense_Mutation_p.G321E|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	321	HMA 3.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TTTAAAATTCCCAGGTGGAAG	0.517000									Wilson disease				15	100					0	0	0.004990	0	0
COMMD3-BMI1	100532731	broad.mit.edu	37	10	22606899	22606899	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:22606899C>T	ENST00000602390.1	+	2	235	c.226C>T	c.(226-228)Cac>Tac	p.H76Y	COMMD3_ENST00000483684.1_3'UTR|COMMD3-BMI1_ENST00000463409.2_3'UTR|COMMD3_ENST00000376836.3_Missense_Mutation_p.H76Y	NM_001204062.1	NP_001190991.1	P35226	BMI1_HUMAN		0					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										GGCAGGAAAGCACCGAGCTGA	0.328000													5	31					0	0	0.014758	0	0
FAM71C	196472	broad.mit.edu	37	12	100042412	100042412	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:100042412C>A	ENST00000324341.1	+	1	882	c.460C>A	c.(460-462)Cct>Act	p.P154T	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	154										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		TCAGCTGTGTCCTCCATCGGA	0.473000													4	112					0.014758	0.0153392	0.014758	1	0
FCAR	2204	broad.mit.edu	37	19	55399394	55399394	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:55399394C>T	ENST00000355524.3	+	4	392	c.382C>T	c.(382-384)Ctc>Ttc	p.L128F	FCAR_ENST00000469767.1_Missense_Mutation_p.L128F|FCAR_ENST00000353758.4_Missense_Mutation_p.L19F|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000391723.3_Missense_Mutation_p.L116F|FCAR_ENST00000359272.4_Missense_Mutation_p.L116F|FCAR_ENST00000391724.3_Missense_Mutation_p.L116F|FCAR_ENST00000391725.3_Missense_Mutation_p.L128F|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000482092.2_3'UTR	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	128					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CAAACCCTTCCTCTCTGCAGA	0.413000													9	60					0	0	0.008291	0	0
ABCA12	26154	broad.mit.edu	37	2	215848475	215848475	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:215848475G>T	ENST00000272895.7	-	29	4497	c.4278C>A	c.(4276-4278)caC>caA	p.H1426Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.H1108Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1426	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAAGACGTCGTGCTGCATAC	0.463000													9	515					0.000673444	0.000733212	0.008291	1	0
MYO3A	53904	broad.mit.edu	37	10	26432511	26432511	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:26432511C>T	ENST00000265944.5	+	21	2563	c.2397C>T	c.(2395-2397)gcC>gcT	p.A799A	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	799	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTCCCAAGGCCACTGACCAGA	0.378000													5	113					0	0	0.014758	0	0
XIRP2	129446	broad.mit.edu	37	2	168106380	168106380	+	Silent	SNP	A	A	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:168106380A>C	ENST00000409195.1	+	9	8567	c.8478A>C	c.(8476-8478)tcA>tcC	p.S2826S	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.S2826S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.S2604S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2651					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGGACCATCAATGATTGGTC	0.398000													5	263					0	0	0.014758	0	0
TCHH	7062	broad.mit.edu	37	1	152080152	152080152	+	Silent	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:152080152C>G	ENST00000368804.1	-	2	5540	c.5541G>C	c.(5539-5541)gcG>gcC	p.A1847A		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1847	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGCTCCTCCGCCCGGTACT	0.567000													20	321					0	0	0.012319	0	0
CUL1	8454	broad.mit.edu	37	7	148484122	148484122	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:148484122G>C	ENST00000325222.4	+	13	1668	c.1389G>C	c.(1387-1389)caG>caC	p.Q463H	CUL1_ENST00000602748.1_Missense_Mutation_p.Q463H|CUL1_ENST00000409469.1_Missense_Mutation_p.Q463H	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	463					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACGTATTTCAGAAGTTCTATG	0.478000													30	97					0	0	0.010818	0	0
STMN2	11075	broad.mit.edu	37	8	80567105	80567105	+	Splice_Site	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:80567105G>T	ENST00000220876.7	+	4	670		c.e4-1		STMN2_ENST00000518491.1_Splice_Site|STMN2_ENST00000518111.1_Splice_Site	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2						intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			TTCTTCCCCAGTCTCAGGAGG	0.453000													5	72					0.000602214	0.000657304	0.014758	1	0
FUBP1	8880	broad.mit.edu	37	1	78430612	78430612	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:78430612C>A	ENST00000370767.1	-	9	765	c.678G>T	c.(676-678)ccG>ccT	p.P226P	FUBP1_ENST00000436586.2_Silent_p.P247P|FUBP1_ENST00000370768.2_Silent_p.P226P			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	226	KH 2.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CAGTGTTCTGCGGCCCGTCTT	0.358000			"""F, N"""		oligodendroglioma								13	169					6.31663e-08	7.8373e-08	0.024245	1	0
PCDH15	65217	broad.mit.edu	37	10	55582806	55582806	+	Silent	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:55582806A>G	ENST00000361849.3	-	34	5080	c.4686T>C	c.(4684-4686)agT>agC	p.S1562S	PCDH15_ENST00000437009.1_Silent_p.S1491S|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395430.1_Silent_p.S1557S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Silent_p.S1560S|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Silent_p.S1537S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Silent_p.S1520S|PCDH15_ENST00000395440.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1560					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCAGAGACTTACTCTTGGCTT	0.423000										HNSCC(58;0.16)			25	230					0	0	0.007291	0	0
LTBP2	4053	broad.mit.edu	37	14	74999205	74999205	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:74999205A>T	ENST00000261978.4	-	10	2297	c.1911T>A	c.(1909-1911)tgT>tgA	p.C637*	LTBP2_ENST00000556690.1_Nonsense_Mutation_p.C637*	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	637	EGF-like 3; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGGTATTCACACACTCCGCGT	0.622000													4	38					0	0	0.021553	0	0
CELF5	60680	broad.mit.edu	37	19	3273874	3273874	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:3273874C>T	ENST00000541430.2	+	3	383	c.347C>T	c.(346-348)gCg>gTg	p.A116V	CELF5_ENST00000292672.2_Missense_Mutation_p.A116V	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	116	RRM 1.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CTGCAGATGGCGCGGCCAATC	0.637000													5	27					0	0	0.001984	0	0
CLRN2	645104	broad.mit.edu	37	4	17528600	17528600	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:17528600C>T	ENST00000511148.2	+	3	696	c.594C>T	c.(592-594)gcC>gcT	p.A198A		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	198						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GCGCTTCGGCCCATGCTGCAA	0.517000													4	89					0	0	0.009096	0	0
SKA3	221150	broad.mit.edu	37	13	21742500	21742500	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:21742500A>T	ENST00000314759.5	-	4	494	c.370T>A	c.(370-372)Tct>Act	p.S124T	SKA3_ENST00000400018.3_Missense_Mutation_p.S124T	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	124					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	p.S124P(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TCACAATTAGACAACTCTGGG	0.383000													9	71					0	0	0.013537	0	0
SORCS3	22986	broad.mit.edu	37	10	106974254	106974254	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:106974254C>T	ENST00000369701.3	+	18	2657	c.2430C>T	c.(2428-2430)acC>acT	p.T810T	SORCS3_ENST00000369699.4_Silent_p.T96T	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	810						integral to membrane	neuropeptide receptor activity	p.T810T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAAGTACACCGCCAAGGCCC	0.537000													8	74					0	0	0.004482	0	0
EPHA7	2045	broad.mit.edu	37	6	94068117	94068117	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:94068117C>A	ENST00000369303.4	-	4	1029	c.845G>T	c.(844-846)gGg>gTg	p.G282V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	282	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTTGTAGAACCCACGGCCACA	0.393000													7	46					2.62144e-13	3.52357e-13	0.004482	1	0
ZNF765	91661	broad.mit.edu	37	19	53911624	53911624	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:53911624G>T	ENST00000396408.3	+	4	933	c.816G>T	c.(814-816)aaG>aaT	p.K272N	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		AACCTTACAAGTGTAATGAGT	0.408000													15	107					3.27435e-08	4.09177e-08	0.020292	1	0
STXBP5L	9515	broad.mit.edu	37	3	120976095	120976095	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:120976095C>A	ENST00000273666.6	+	17	2018	c.1747C>A	c.(1747-1749)Cag>Aag	p.Q583K	STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q583K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Q583K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.Q583K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.Q583K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	583					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCTCTCAGCCCAGCTTCCTTC	0.418000													34	185					6.90743e-12	9.25595e-12	0.017118	1	0
PAPOLA	10914	broad.mit.edu	37	14	97009144	97009144	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:97009144G>T	ENST00000216277.8	+	14	1423	c.1203G>T	c.(1201-1203)ctG>ctT	p.L401L	PAPOLA_ENST00000392990.2_Silent_p.L401L	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	401					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCCGAATCCTGGTTGGAAGCT	0.368000													5	269					2.7689e-08	3.47008e-08	0.001984	1	0
ZNF654	55279	broad.mit.edu	37	3	88189521	88189521	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:88189521C>T	ENST00000309495.5	+	1	1268	c.1061C>T	c.(1060-1062)tCt>tTt	p.S354F	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AAAGACTCATCTAGTAATGAG	0.353000													4	64					0	0	0.009096	0	0
TAPBP	6892	broad.mit.edu	37	6	33272846	33272846	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:33272846G>C	ENST00000434618.2	-	4	1133	c.788C>G	c.(787-789)cCc>cGc	p.P263R	TAPBP_ENST00000456592.2_Missense_Mutation_p.P263R|TAPBP_ENST00000426633.2_Missense_Mutation_p.P263R|TAPBP_ENST00000475304.1_Missense_Mutation_p.P281R|TAPBP_ENST00000489157.1_Missense_Mutation_p.P176R	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	263					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CTCCTGAAAGGGTTGAACTGT	0.582000													9	206					0	0	0.004482	0	0
KRT12	3859	broad.mit.edu	37	17	39019986	39019986	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:39019986C>T	ENST00000251643.4	-	4	961	c.938G>A	c.(937-939)cGg>cAg	p.R313Q		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	313	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				AGCGTCCTTCCGATTCTGCTC	0.547000													5	118					0	0	0.014758	0	0
OTOF	9381	broad.mit.edu	37	2	26684976	26684976	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:26684976T>G	ENST00000272371.2	-	42	5392	c.5266A>C	c.(5266-5268)Aag>Cag	p.K1756Q	OTOF_ENST00000402415.3_Missense_Mutation_p.K1066Q|OTOF_ENST00000339598.3_Missense_Mutation_p.K989Q|OTOF_ENST00000338581.6_Missense_Mutation_p.K989Q|OTOF_ENST00000403946.3_Missense_Mutation_p.K1756Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1756					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACTGGACTTCTCCCCTGTG	0.617000													17	228					0	0	0.014323	0	0
PA2G4	5036	broad.mit.edu	37	12	56500856	56500856	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:56500856C>T	ENST00000303305.6	+	3	719	c.300C>T	c.(298-300)ctC>ctT	p.L100L	RP11-603J24.9_ENST00000548861.1_Silent_p.L81L|PA2G4_ENST00000552766.1_Silent_p.L100L|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	100					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			ATTATATTCTCAAGGAAGGTG	0.358000													7	116					0	0	0.003080	0	0
BHMT	635	broad.mit.edu	37	5	78421881	78421881	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:78421881T>A	ENST00000274353.5	+	6	745	c.638T>A	c.(637-639)aTt>aAt	p.I213N	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.I60N	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	213	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GCATCCATCATTGGTGTGAAC	0.502000													8	52					0	0	0.010729	0	0
KIF18A	81930	broad.mit.edu	37	11	28113014	28113014	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:28113014A>T	ENST00000263181.6	-	4	820	c.530T>A	c.(529-531)cTt>cAt	p.L177H		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	177	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CCGGACAGCAAGTGGCCCTGA	0.348000													15	314					0	0	0.007413	0	0
GPR32	2854	broad.mit.edu	37	19	51274813	51274813	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:51274813T>A	ENST00000270590.4	+	1	1093	c.956T>A	c.(955-957)gTt>gAt	p.V319D		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	319						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TACGTCTTCGTTGGCAGAGAT	0.542000													4	114					0	0	0.014758	0	0
HERC2	8924	broad.mit.edu	37	15	28544618	28544618	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:28544618C>A	ENST00000261609.7	-	3	225	c.117G>T	c.(115-117)atG>atT	p.M39I		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	39					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATCTTTAACCATTTCATTCC	0.408000													16	118					7.41877e-09	9.447e-09	0.012319	1	0
CCER1	196477	broad.mit.edu	37	12	91348302	91348302	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:91348302G>T	ENST00000358859.2	-	1	651	c.218C>A	c.(217-219)cCg>cAg	p.P73Q	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CCAAAAGCCCGGGCCGTGCTG	0.652000													8	22					0.000442599	0.000487363	0.006214	1	0
ALG3	10195	broad.mit.edu	37	3	183960733	183960733	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:183960733G>A	ENST00000455059.1	-	8	1356	c.902C>T	c.(901-903)aCc>aTc	p.T301I	ALG3_ENST00000397676.3_Missense_Mutation_p.T341I|ALG3_ENST00000418734.2_Missense_Mutation_p.T285I|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000445626.2_Missense_Mutation_p.T293I			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	341					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTGAAGAGGGTAGAAACGAT	0.542000													4	13					0	0	0.009096	0	0
SNTG1	54212	broad.mit.edu	37	8	51569535	51569535	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:51569535A>T	ENST00000522124.1	+	14	1577	c.916A>T	c.(916-918)Acc>Tcc	p.T306S	SNTG1_ENST00000517473.1_Missense_Mutation_p.T306S|SNTG1_ENST00000276467.5_Missense_Mutation_p.T306S|SNTG1_ENST00000518864.1_Missense_Mutation_p.T306S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	306	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTACTCCCCGACCTTCCTGGC	0.478000													15	103					0	0	0.024245	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605286	140605286	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:140605286G>T	ENST00000239449.4	+	1	2209	c.2209G>T	c.(2209-2211)Gtg>Ttg	p.V737L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.V584L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		737					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGGCATCTGGTGGACGTGAG	0.632000													9	95					0.00448238	0.00476116	0.004482	1	0
SGOL1	151648	broad.mit.edu	37	3	20216189	20216189	+	Silent	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:20216189T>C	ENST00000412997.1	-	6	1185	c.834A>G	c.(832-834)gaA>gaG	p.E278E	SGOL1_ENST00000442720.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000421451.1_Silent_p.E278E|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000263753.4_Silent_p.E278E|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000412868.1_Silent_p.E278E|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1-AS1_ENST00000441442.1_RNA	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	278					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ttttAGTTTGTTCAGATTTAG	0.323000													11	77					0	0	0.008291	0	0
SCN2A	6326	broad.mit.edu	37	2	166170198	166170198	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:166170198A>T	ENST00000357398.3	+	9	1393	c.1103A>T	c.(1102-1104)gAc>gTc	p.D368V	SCN2A_ENST00000375427.2_Missense_Mutation_p.D368V|SCN2A_ENST00000283256.6_Missense_Mutation_p.D368V|SCN2A_ENST00000375437.2_Missense_Mutation_p.D368V			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	368					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACGAGCTTTGACACCTTTAGT	0.413000													15	129					0	0	0.028581	0	0
NTSR1	4923	broad.mit.edu	37	20	61391394	61391394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr20:61391394C>A	ENST00000370501.3	+	4	1403	c.1032C>A	c.(1030-1032)taC>taA	p.Y344*	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	344						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TCTACCACTACTTCTACATGG	0.577000													7	47					0.00307968	0.00328323	0.003080	1	0
SLC9A9	285195	broad.mit.edu	37	3	142985598	142985598	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:142985598C>A	ENST00000316549.6	-	16	2092	c.1884G>T	c.(1882-1884)ctG>ctT	p.L628L		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	628					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CATAGCCTCCCAGGCCGAGGT	0.498000													18	125					5.03518e-11	6.70588e-11	0.007413	1	0
GTF3C1	2975	broad.mit.edu	37	16	27475683	27475683	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:27475683T>G	ENST00000356183.4	-	34	5845	c.5830A>C	c.(5830-5832)Agc>Cgc	p.S1944R	GTF3C1_ENST00000561623.1_Intron	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1944						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCTGGCCGCTCAGCTGCTCT	0.662000													6	165					0	0	0.003080	0	0
TRPV2	51393	broad.mit.edu	37	17	16321065	16321065	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:16321065G>T	ENST00000338560.7	+	2	482	c.83G>T	c.(82-84)gGa>gTa	p.G28V	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	28	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GCGGACAGAGGAAAGCTGGAT	0.562000													9	47					3.07112e-06	3.63443e-06	0.010729	1	0
MINPP1	9562	broad.mit.edu	37	10	89272967	89272967	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:89272967G>T	ENST00000371996.4	+	3	963	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	MINPP1_ENST00000371994.4_Intron|MINPP1_ENST00000536010.1_Missense_Mutation_p.D107Y	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	308					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		TTTTGACATAGATGATGCAAA	0.328000													6	150					8.12818e-05	9.14683e-05	0.001984	1	0
NLGN4X	57502	broad.mit.edu	37	X	5950772	5950772	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:5950772G>T	ENST00000381093.2	-	3	955	c.492C>A	c.(490-492)aaC>aaA	p.N164K	NLGN4X_ENST00000381092.1_Intron|NLGN4X_ENST00000381095.3_Intron|NLGN4X_ENST00000538097.1_Intron|NLGN4X_ENST00000275857.6_Intron			Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	157					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TATCATCTGCGTTTTTCTTTG	0.348000													11	86					1.49906e-05	1.72709e-05	0.020292	1	0
DAGLA	747	broad.mit.edu	37	11	61502411	61502411	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:61502411G>A	ENST00000257215.5	+	10	1181	c.1065G>A	c.(1063-1065)cgG>cgA	p.R355R		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	355					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TTGCCATCCGGCGCCACTTCC	0.632000													22	125					0	0	0.021523	0	0
LBP	3929	broad.mit.edu	37	20	36993307	36993307	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr20:36993307C>A	ENST00000217407.2	+	8	983	c.822C>A	c.(820-822)aaC>aaA	p.N274K		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	274					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AGGAACACAACAAAATGGTCT	0.473000													15	146					3.32936e-07	4.08433e-07	0.006122	1	0
MKI67	4288	broad.mit.edu	37	10	129903181	129903181	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:129903181T>C	ENST00000368654.3	-	13	7298	c.6923A>G	c.(6922-6924)gAa>gGa	p.E2308G	MKI67_ENST00000368653.3_Missense_Mutation_p.E1948G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2308	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGGGCCTTTTCCTTAGGAGT	0.483000													7	404					0	0	0.003080	0	0
ZNF229	7772	broad.mit.edu	37	19	44933575	44933575	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:44933575A>T	ENST00000291187.4	-	6	1685	c.1363T>A	c.(1363-1365)Tac>Aac	p.Y455N	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.Y461N	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CCACAGCTGTAGGGCTTTTCT	0.572000													29	80					0	0	0.010818	0	0
PCDH11X	27328	broad.mit.edu	37	X	91675527	91675527	+	Splice_Site	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:91675527C>A	ENST00000298274.8	+	4	3234	c.3232_splice	c.e4-1	p.T1078_splice	PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000373094.1_Intron|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000406881.1_Intron			Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1115					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						tttctttatccttcatcccaa	0.333000													9	363					4.36969e-10	5.67213e-10	0.016723	1	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692318	31692318	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr21:31692318G>C	ENST00000360542.3	-	1	289	c.36C>G	c.(34-36)aaC>aaG	p.N12K		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	12						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GAGATCCTGAGTTGGAGTTTC	0.527000													7	89					0	0	0.003080	0	0
FAM199X	139231	broad.mit.edu	37	X	103434287	103434287	+	Splice_Site	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:103434287A>T	ENST00000493442.1	+	6	1162		c.e6-1		FAM199X_ENST00000299906.5_Splice_Site	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TTATTTTGACAGAAGCGATCC	0.448000													18	155					0	0	0.007413	0	0
ST7	7982	broad.mit.edu	37	7	116759740	116759740	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:116759740C>G	ENST00000265437.5	+	3	574	c.360C>G	c.(358-360)aaC>aaG	p.N120K	ST7_ENST00000393449.1_Missense_Mutation_p.N120K|ST7_ENST00000393446.2_Missense_Mutation_p.N120K|ST7-AS2_ENST00000432541.1_RNA|ST7-AS2_ENST00000434993.1_RNA|ST7_ENST00000465133.1_Missense_Mutation_p.N77K|ST7_ENST00000422922.1_Missense_Mutation_p.N74K|ST7-AS2_ENST00000442719.1_RNA|ST7_ENST00000393443.1_Missense_Mutation_p.N70K|ST7_ENST00000432298.1_Missense_Mutation_p.N74K|ST7_ENST00000393444.3_Missense_Mutation_p.N77K|ST7_ENST00000393451.3_Missense_Mutation_p.N120K|ST7_ENST00000393447.4_Missense_Mutation_p.N77K|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000323984.3_Missense_Mutation_p.N120K	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	120						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ATTCCAGTAACGGGGACTCAG	0.393000													18	154					0	0	0.010504	0	0
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	RNA	SNP	T	T	A	rs6583274	by1000genomes	TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884																											CCCTTTGAGGTGCACTGGAGG	0.567000													3	12					0	0	0.009096	0	0
IGHV3OR15-7	28318	broad.mit.edu	37	15	20193326	20193326	+	RNA	SNP	T	T	A	rs1126426		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:20193326T>A	ENST00000558565.2	-	0	44																											ATGAATCACCTTTTAAAATAG	0.458000													7	365					0	0	0.004482	0	0
APC	324	broad.mit.edu	37	5	112174637	112174637	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:112174637G>T	ENST00000457016.1	+	16	3726	c.3346G>T	c.(3346-3348)Ggt>Tgt	p.G1116C	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.G1116C|APC_ENST00000257430.4_Missense_Mutation_p.G1116C			P25054	APC_HUMAN	adenomatous polyposis coli	1116	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAATCGAGTGGGTTCTAATCA	0.398000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			7	138					2.7689e-08	3.47008e-08	0.001984	1	0
GRM5	2915	broad.mit.edu	37	11	88301013	88301013	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:88301013G>C	ENST00000418177.2	-	8	2205	c.1838C>G	c.(1837-1839)tCa>tGa	p.S613*	GRM5_ENST00000455756.2_Nonsense_Mutation_p.S613*|GRM5_ENST00000393297.1_Nonsense_Mutation_p.S613*|GRM5_ENST00000305432.5_Nonsense_Mutation_p.S613*|GRM5_ENST00000305447.4_Nonsense_Mutation_p.S613*			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	613					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTCCCTGCTTGAGGACTTGAC	0.498000													11	136					0	0	0.010729	0	0
ZNF420	147923	broad.mit.edu	37	19	37618734	37618734	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:37618734T>A	ENST00000337995.3	+	5	1056	c.841T>A	c.(841-843)Tgt>Agt	p.C281S	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.C281S	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTCTATGAATGTAAAGAATG	0.378000													13	198					0	0	0.013537	0	0
ESR1	2099	broad.mit.edu	37	6	152332890	152332890	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:152332890C>G	ENST00000440973.1	+	7	1566	c.1196C>G	c.(1195-1197)cCa>cGa	p.P399R	ESR1_ENST00000544394.1_Missense_Mutation_p.P226R|ESR1_ENST00000443427.1_Missense_Mutation_p.P399R|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000206249.3_Missense_Mutation_p.P399R|ESR1_ENST00000338799.5_Missense_Mutation_p.P399R|ESR1_ENST00000456483.2_Missense_Mutation_p.P287R	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	399	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	ATGGAGCACCCAGGGAAGCTA	0.493000													7	415					0	0	0.003080	0	0
OR13C8	138802	broad.mit.edu	37	9	107331796	107331796	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr9:107331796C>A	ENST00000335040.1	+	1	348	c.348C>A	c.(346-348)ggC>ggA	p.G116G		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGATCTTAGGCACGATGGCAC	0.527000													25	112					1.66031e-10	2.17463e-10	0.021523	1	0
RNF43	54894	broad.mit.edu	37	17	56435128	56435128	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:56435128T>A	ENST00000584437.1	-	8	3964	c.2009A>T	c.(2008-2010)cAg>cTg	p.Q670L	RNF43_ENST00000581868.1_Missense_Mutation_p.Q543L|RNF43_ENST00000583753.1_Missense_Mutation_p.Q629L|RNF43_ENST00000500597.2_Missense_Mutation_p.Q629L|RNF43_ENST00000407977.2_Missense_Mutation_p.Q670L|RNF43_ENST00000577625.1_Missense_Mutation_p.Q543L|RNF43_ENST00000577716.1_Missense_Mutation_p.Q670L|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	670	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTTGCATCCTGGGGCCGAGA	0.597000													12	392					0	0	0.016723	0	0
NALCN	259232	broad.mit.edu	37	13	101762987	101762987	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:101762987C>T	ENST00000251127.6	-	20	2428	c.2347G>A	c.(2347-2349)Gaa>Aaa	p.E783K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	783						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)					GTCAAAGTTTCAAGAGATTTT	0.388000													16	266					0	0	0.004990	0	0
KLHL1	57626	broad.mit.edu	37	13	70681450	70681450	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:70681450C>A	ENST00000377844.4	-	1	1141	c.382G>T	c.(382-384)Gag>Tag	p.E128*	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	128					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGCACCACCTCCTCCTCTAGT	0.592000													16	92					3.52763e-06	4.15212e-06	0.004990	1	0
ADAT1	23536	broad.mit.edu	37	16	75652534	75652534	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:75652534G>A	ENST00000307921.3	-	5	388	c.243C>T	c.(241-243)gaC>gaT	p.D81D		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	81	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						CATTGAGGATGTCTCCTGCGG	0.532000													4	132					0	0	0.001984	0	0
TMEM171	134285	broad.mit.edu	37	5	72419374	72419374	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:72419374G>T	ENST00000454765.2	+	2	647	c.174G>T	c.(172-174)gtG>gtT	p.V58V	TMEM171_ENST00000287773.5_Silent_p.V58V			Q8WVE6	TM171_HUMAN	transmembrane protein 171	58						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GCCCCATGGTGCTCAAGGTGG	0.622000													7	45					2.0095e-06	2.39435e-06	0.001984	1	0
POLA1	5422	broad.mit.edu	37	X	24830823	24830823	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:24830823G>A	ENST00000379068.3	+	29	3182	c.3139G>A	c.(3139-3141)Gat>Aat	p.D1047N	POLA1_ENST00000379059.3_Missense_Mutation_p.D1041N			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1041	Poly-Leu.				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	AATAGACATTGATGGGGTTTT	0.378000													6	207					0	0	0.021553	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36558896	36558896	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:36558896A>T	ENST00000373178.4	+	6	1031	c.1001A>T	c.(1000-1002)cAg>cTg	p.Q334L		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	334						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				GGGATGGATCAGGTGCCAGAG	0.547000													5	59					0	0	0.021553	0	0
KCNH5	27133	broad.mit.edu	37	14	63179419	63179419	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:63179419C>A	ENST00000394968.1	-	11	2028	c.1861G>T	c.(1861-1863)Gca>Tca	p.A621S	KCNH5_ENST00000322893.7_Intron|KCNH5_ENST00000420622.2_Intron	NM_172376.1	NP_758964.1	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	0					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGAGCGTTTGCCATGGAGAAC	0.493000													6	37					0.00198382	0.00212535	0.001984	1	0
CAPN6	827	broad.mit.edu	37	X	110494202	110494202	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:110494202C>A	ENST00000324068.1	-	8	1268	c.1101G>T	c.(1099-1101)ctG>ctT	p.L367L	CAPN6_ENST00000541758.1_Silent_p.L112L	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	367	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AGCGGTTCATCAGGGGATCAT	0.468000													345	1711					1.15162e-75	1.70011e-75	0.014410	1	0
LIPG	9388	broad.mit.edu	37	18	47107826	47107826	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr18:47107826C>T	ENST00000261292.4	+	6	1113	c.835C>T	c.(835-837)Cac>Tac	p.H279Y	LIPG_ENST00000580036.1_Missense_Mutation_p.H279Y|LIPG_ENST00000577628.1_Missense_Mutation_p.H315Y|LIPG_ENST00000427224.2_Missense_Mutation_p.H205Y	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	279					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCGAGCCGTCCACCTCTTTGT	0.507000													5	176					0	0	0.014758	0	0
ALOX15B	247	broad.mit.edu	37	17	7950631	7950631	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:7950631G>A	ENST00000380183.4	+	11	1652	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N	ALOX15B_ENST00000380173.2_Missense_Mutation_p.D476N|ALOX15B_ENST00000573359.1_Intron|ALOX15B_ENST00000572022.1_Missense_Mutation_p.D493N	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	505	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TGTCCAAGATGACAGAGAGCT	0.547000													12	151					0	0	0.016723	0	0
RYR2	6262	broad.mit.edu	37	1	237947973	237947973	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:237947973G>A	ENST00000366574.2	+	90	13278	c.12961G>A	c.(12961-12963)Ggt>Agt	p.G4321S	RYR2_ENST00000360064.6_Missense_Mutation_p.G4327S|RYR2_ENST00000542537.1_Missense_Mutation_p.G4305S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4321					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G4319S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTCGTCGAAGGTGCTAAAAA	0.522000													17	106					0	0	0.007413	0	0
FLNB	2317	broad.mit.edu	37	3	58109130	58109130	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:58109130G>A	ENST00000357272.4	+	21	3602	c.3437G>A	c.(3436-3438)gGg>gAg	p.G1146E	FLNB_ENST00000419752.2_Missense_Mutation_p.G977E|FLNB_ENST00000493452.1_Missense_Mutation_p.G977E|FLNB_ENST00000490882.1_Missense_Mutation_p.G1146E|FLNB_ENST00000358537.3_Missense_Mutation_p.G1146E|FLNB_ENST00000348383.5_Missense_Mutation_p.G1146E|FLNB_ENST00000295956.4_Missense_Mutation_p.G1146E|FLNB_ENST00000429972.2_Missense_Mutation_p.G1146E			O75369	FLNB_HUMAN	filamin B, beta	1146	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTCGAGCACGGGAAGGTGGGT	0.592000													25	120					0	0	0.014323	0	0
HMBS	3145	broad.mit.edu	37	11	118959809	118959809	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:118959809G>A	ENST00000537841.1	+	4	418	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000392841.1_Missense_Mutation_p.G43R|HMBS_ENST00000544387.1_Missense_Mutation_p.G60R|HMBS_ENST00000442944.2_Missense_Mutation_p.G43R|HMBS_ENST00000542729.1_Missense_Mutation_p.G43R|HMBS_ENST00000543090.1_Missense_Mutation_p.G42R|HMBS_ENST00000278715.3_Missense_Mutation_p.G60R			P08397	HEM3_HUMAN	hydroxymethylbilane synthase	60					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GTCCACCACAGGGGACAAGAT	0.478000													4	144					0	0	0.014758	0	0
OR6S1	341799	broad.mit.edu	37	14	21109144	21109144	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:21109144C>A	ENST00000320704.3	-	1	706	c.707G>T	c.(706-708)gGc>gTc	p.G236V		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CTTCTGACGGCCTGAAGCAGA	0.537000													5	142					3.59834e-05	4.09158e-05	0.021553	1	0
GPR52	9293	broad.mit.edu	37	1	174417609	174417609	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:174417609C>T	ENST00000367685.2	+	1	398	c.360C>T	c.(358-360)atC>atT	p.I120I	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	120						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TTGGATATATCATCTCAGTTC	0.428000													26	389					0	0	0.009535	0	0
FLG	2312	broad.mit.edu	37	1	152278649	152278649	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:152278649C>G	ENST00000368799.1	-	3	8748	c.8713G>C	c.(8713-8715)Gag>Cag	p.E2905Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2905	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E2905Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCACCTCTCAGAGTCTTCT	0.567000									Ichthyosis				6	251					0	0	0.007413	0	0
ATP1B3	483	broad.mit.edu	37	3	141626065	141626065	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:141626065G>C	ENST00000539728.1	+	4	546	c.253G>C	c.(253-255)Gat>Cat	p.D85H	ATP1B3_ENST00000462082.1_Intron|ATP1B3_ENST00000286371.3_Missense_Mutation_p.D99H			P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	99					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						CAGTAGGTCTGATCCAACTTC	0.348000													5	174					0	0	0.001984	0	0
HECTD3	79654	broad.mit.edu	37	1	45476639	45476639	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:45476639C>A	ENST00000372172.4	-	1	362	c.291G>T	c.(289-291)gaG>gaT	p.E97D		NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	97					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CGCGCCGGAGCTCAATGCTGT	0.746000													3	14					0.004672	0.0049325	0.004672	1	0
ACTRT1	139741	broad.mit.edu	37	X	127185641	127185641	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:127185641C>G	ENST00000371124.3	-	1	741	c.545G>C	c.(544-546)tGt>tCt	p.C182S		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	182						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CCCTGCCATACAGAGTTTGGT	0.552000													5	174					0	0	0.014758	0	0
CD101	9398	broad.mit.edu	37	1	117559875	117559875	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:117559875G>A	ENST00000256652.4	+	5	1450	c.1392G>A	c.(1390-1392)ggG>ggA	p.G464G	CD101_ENST00000369470.1_Silent_p.G464G	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	464	Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGGCATGGGGCAGGATGGCA	0.587000													5	86					0	0	0.014758	0	0
LSAMP	4045	broad.mit.edu	37	3	116163796	116163796	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:116163796G>C	ENST00000490035.1	-	1	582	c.83C>G	c.(82-84)cCt>cGt	p.P28R	LSAMP_ENST00000539563.1_Missense_Mutation_p.P25R	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	28					cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GCTGCGAACAGGCAGTCCTGT	0.582000													8	84					0	0	0.003080	0	0
GLDC	2731	broad.mit.edu	37	9	6553455	6553455	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr9:6553455C>A	ENST00000321612.6	-	20	2520	c.2370G>T	c.(2368-2370)cgG>cgT	p.R790R		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	790					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CATCCTCATTCCGCTTTAGTG	0.483000													76	81					5.85233e-21	8.30193e-21	0.014410	1	0
IL16	3603	broad.mit.edu	37	15	81585315	81585315	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:81585315G>C	ENST00000394660.2	+	12	2199	c.1839G>C	c.(1837-1839)aaG>aaC	p.K613N	IL16_ENST00000302987.4_Missense_Mutation_p.K613N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	613					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACCCTCAGAAGAGTCTGGAAG	0.502000													15	75					0	0	0.006122	0	0
MYOCD	93649	broad.mit.edu	37	17	12666854	12666854	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:12666854T>A	ENST00000425538.1	+	14	3054	c.2854T>A	c.(2854-2856)Ttt>Att	p.F952I	MYOCD_ENST00000343344.4_Missense_Mutation_p.F904I|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	904					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CACACCAGGCTTTAGCGCCCT	0.517000													8	101					0	0	0.006214	0	0
COMMD3-BMI1	100532731	broad.mit.edu	37	10	22606898	22606898	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:22606898G>T	ENST00000602390.1	+	2	234	c.225G>T	c.(223-225)aaG>aaT	p.K75N	COMMD3_ENST00000483684.1_3'UTR|COMMD3-BMI1_ENST00000463409.2_3'UTR|COMMD3_ENST00000376836.3_Missense_Mutation_p.K75N	NM_001204062.1	NP_001190991.1	P35226	BMI1_HUMAN		0					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										AGGCAGGAAAGCACCGAGCTG	0.333000													5	31					0.000602214	0.000657304	0.014758	1	0
ZNF354A	6940	broad.mit.edu	37	5	178139800	178139800	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:178139800C>T	ENST00000335815.2	-	5	1276	c.1079G>A	c.(1078-1080)gGc>gAc	p.G360D		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	360					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		AAAGGTGTTGCCACATTCATT	0.418000													4	152					0	0	0.014758	0	0
SETDB1	9869	broad.mit.edu	37	1	150913870	150913870	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:150913870C>T	ENST00000271640.5	+	5	703	c.513C>T	c.(511-513)gtC>gtT	p.V171V	SETDB1_ENST00000368963.1_Silent_p.V171V|SETDB1_ENST00000368962.2_Silent_p.V171V|SETDB1_ENST00000368969.4_Silent_p.V171V|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGATGCTGTCAACAAGAAGA	0.428000													28	83					0	0	0.009535	0	0
MYL10	93408	broad.mit.edu	37	7	101259549	101259549	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:101259549C>A	ENST00000223167.4	-	6	661	c.484G>T	c.(484-486)Gcc>Tcc	p.A162S		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	162	EF-hand 2.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						ACTTTGAAGGCGTGGAGAATG	0.557000													5	21					0.000602214	0.000657304	0.014758	1	0
LST3	0	broad.mit.edu	37	12	21201840	21201840	+	Splice_Site	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:21201840G>T	ENST00000381541.3	+	9	1395	c.1331_splice	c.e9+1	p.G444_splice	SLCO1B7_ENST00000421593.2_Splice_Site_p.G397_splice|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Splice_Site_p.G444_splice|SLCO1B3_ENST00000553473.1_Intron																							GACCTATGATGGGTTTGTATA	0.318000													12	73					0.00010058	0.000113039	0.013537	1	0
VPRBP	9730	broad.mit.edu	37	3	51457358	51457358	+	Silent	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:51457358T>C	ENST00000335891.5	-	7	1728	c.1719A>G	c.(1717-1719)ccA>ccG	p.P573P				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1022					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGGTGGCAACTGGATTCTTGC	0.483000													10	190					0	0	0.008291	0	0
SOS1	6654	broad.mit.edu	37	2	39294821	39294821	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:39294821T>A	ENST00000426016.1	-	3	247	c.161A>T	c.(160-162)cAa>cTa	p.Q54L	SOS1_ENST00000395038.2_Missense_Mutation_p.Q54L|SOS1_ENST00000402219.2_Missense_Mutation_p.Q54L|SOS1_ENST00000428721.2_5'UTR			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	54					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)				ATTTAATAATTGCAAAATTAA	0.343000									Noonan syndrome				4	183					0	0	0.009096	0	0
PGP	283871	broad.mit.edu	37	16	2264177	2264177	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:2264177T>C	ENST00000333503.7	-	1	631	c.602A>G	c.(601-603)gAc>gGc	p.D201G		NM_001042371.2	NP_001035830.1	A6NDG6	PGP_HUMAN	phosphoglycolate phosphatase	201					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						AAGCCGGTTGTCCATGTTGGT	0.697000													2	4					0	0	0.004672	0	0
ZNF23	7571	broad.mit.edu	37	16	71482972	71482972	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:71482972A>T	ENST00000393539.2	-	6	1769	c.956T>A	c.(955-957)gTt>gAt	p.V319D	RP11-510M2.10_ENST00000576258.1_RNA|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.V261D|ZNF23_ENST00000417828.1_Missense_Mutation_p.V319D|ZNF23_ENST00000357254.4_Missense_Mutation_p.V319D|ZNF23_ENST00000564528.1_Missense_Mutation_p.V261D|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000358700.2_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTTTGCATTAACATTGAACGC	0.413000													21	174					0	0	0.008871	0	0
MTG2	26164	broad.mit.edu	37	20	60773887	60773887	+	Silent	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr20:60773887G>A	ENST00000370823.3	+	5	684	c.666G>A	c.(664-666)aaG>aaA	p.K222K	MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		TGGAGCTCAAGACGGTGGCCC	0.572000													4	37					0	0	0.014758	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55290079	55290079	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:55290079G>T	ENST00000336077.6	+	5	720	c.680G>T	c.(679-681)aGt>aTt	p.S227I	KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.S227I|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	227					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CCTTCAAATAGTTGGCCTTCA	0.502000													78	175					9.86815e-39	1.44944e-38	0.014410	1	0
KCNH1	3756	broad.mit.edu	37	1	211192455	211192455	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:211192455C>T	ENST00000367007.4	-	6	871	c.702G>A	c.(700-702)ttG>ttA	p.L234L	KCNH1_ENST00000271751.4_Silent_p.L234L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	234					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TATAAGGGACCAAGATGGCTG	0.433000													32	125					0	0	0.010818	0	0
NASP	4678	broad.mit.edu	37	1	46073179	46073179	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:46073179T>A	ENST00000350030.3	+	6	683	c.596T>A	c.(595-597)gTt>gAt	p.V199D	NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.V135D|NASP_ENST00000402363.3_Missense_Mutation_p.V201D|NASP_ENST00000351223.3_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	199	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					CAGGAAAAAGTTGACTTGACT	0.453000													5	100					0	0	0.014758	0	0
AMPD1	270	broad.mit.edu	37	1	115220954	115220954	+	Splice_Site	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:115220954A>G	ENST00000369538.3	-	7	1226	c.1179_splice	c.e7+1	p.A393_splice	AMPD1_ENST00000353928.6_Splice_Site_p.A364_splice|AMPD1_ENST00000520113.2_Splice_Site_p.A397_splice	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	364					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTCAACCTACAGCATGAACAT	0.413000													20	182					0	0	0.010504	0	0
RYR1	6261	broad.mit.edu	37	19	38976231	38976231	+	Splice_Site	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:38976231T>C	ENST00000355481.4	+	34	5067	c.4934_splice	c.e34-1	p.C1646_splice	RYR1_ENST00000359596.3_Splice_Site_p.C1646_splice|RYR1_ENST00000360985.3_Splice_Site_p.C1646_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1646	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGCTGCAGGTGCATGGACAT	0.597000													9	143					0	0	0.006214	0	0
GAS2L3	283431	broad.mit.edu	37	12	100994245	100994245	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:100994245A>C	ENST00000539410.1	+	3	490	c.104A>C	c.(103-105)tAc>tCc	p.Y35S	GAS2L3_ENST00000537247.1_5'UTR|GAS2L3_ENST00000547754.1_Missense_Mutation_p.Y35S|GAS2L3_ENST00000266754.5_Missense_Mutation_p.Y35S			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	35					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GTTTGTCAGTACGATGAGTGG	0.443000													7	274					0	0	0.001984	0	0
UGT1A7	54577	broad.mit.edu	37	2	234591160	234591160	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:234591160C>A	ENST00000373426.3	+	1	577	c.577C>A	c.(577-579)Ctt>Att	p.L193I	UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGTCCCCAGACTTCTCTTAGG	0.458000													70	419					5.97199e-22	8.49936e-22	0.014410	1	0
OVOL2	58495	broad.mit.edu	37	20	18022289	18022289	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr20:18022289G>C	ENST00000278780.6	-	3	642	c.400C>G	c.(400-402)Ctg>Gtg	p.L134V	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	134					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TGACGGTTCAGCATGCGCTGC	0.602000													6	60					0	0	0.001984	0	0
ADCY2	108	broad.mit.edu	37	5	7820767	7820767	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:7820767A>G	ENST00000338316.4	+	24	3177	c.3088A>G	c.(3088-3090)Agg>Ggg	p.R1030G	ADCY2_ENST00000537121.1_Missense_Mutation_p.R850G	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1030					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGTGGCCAGTAGGATGGACAG	0.488000													10	83					0	0	0.006214	0	0
CUL4A	8451	broad.mit.edu	37	13	113907476	113907476	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:113907476G>T	ENST00000451881.1	+	16	1668	c.1419G>T	c.(1417-1419)ttG>ttT	p.L473F	CUL4A_ENST00000375440.4_Missense_Mutation_p.L573F|CUL4A_ENST00000375441.3_Missense_Mutation_p.L473F|CUL4A_ENST00000326335.4_Missense_Mutation_p.L473F	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	573					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AAACTACTTTGGGACATGCTG	0.294000													28	136					2.48696e-23	3.55105e-23	0.015359	1	0
FH	2271	broad.mit.edu	37	1	241663856	241663856	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:241663856C>A	ENST00000366560.3	-	9	1309	c.1271G>T	c.(1270-1272)gGg>gTg	p.G424V		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	424					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TGAAGCATCCCCCAGCAGCCT	0.448000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				39	169					9.84934e-19	1.37701e-18	0.010771	1	0
DMBT1	1755	broad.mit.edu	37	10	124377659	124377659	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:124377659A>T	ENST00000368909.3	+	38	4737	c.4631A>T	c.(4630-4632)aAc>aTc	p.N1544I	DMBT1_ENST00000368956.2_Missense_Mutation_p.N916I|DMBT1_ENST00000359586.6_Missense_Mutation_p.N395I|DMBT1_ENST00000338354.3_Missense_Mutation_p.N1544I|DMBT1_ENST00000368955.3_Missense_Mutation_p.N1534I|DMBT1_ENST00000344338.3_Missense_Mutation_p.N1534I|DMBT1_ENST00000330163.4_Missense_Mutation_p.N916I	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1544	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AATGATGCCAACGTGGTCTGC	0.607000													51	393					0	0	0.014410	0	0
PEX5L	51555	broad.mit.edu	37	3	179615932	179615932	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:179615932G>C	ENST00000467460.1	-	3	526	c.196C>G	c.(196-198)Cag>Gag	p.Q66E	PEX5L_ENST00000392649.3_Missense_Mutation_p.Q23E|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q23E|PEX5L_ENST00000263962.8_Missense_Mutation_p.Q64E|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q42E|PEX5L_ENST00000468741.1_Intron|PEX5L_ENST00000476138.1_Missense_Mutation_p.Q23E|PEX5L_ENST00000485199.1_Intron|PEX5L_ENST00000472994.1_Intron	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	66					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTGCCCACCTGTGATGTCATA	0.428000													14	108					0	0	0.024245	0	0
BRINP3	339479	broad.mit.edu	37	1	190195428	190195428	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:190195428C>T	ENST00000367462.3	-	6	976	c.745G>A	c.(745-747)Gac>Aac	p.D249N	FAM5C_ENST00000534846.1_Missense_Mutation_p.D147N|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		249						extracellular region				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)					TGAAGATAGTCTGGGAGAAGT	0.333000													7	70					0	0	0.004482	0	0
OR2T34	127068	broad.mit.edu	37	1	248738047	248738047	+	Silent	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:248738047C>A	ENST00000328782.2	-	1	33	c.12G>T	c.(10-12)ggG>ggT	p.G4G		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	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;0.0265)			AAGTCTGATTCCCTGAGCACA	0.453000													8	243					2.17888e-05	2.49711e-05	0.006214	1	0
TMEM169	92691	broad.mit.edu	37	2	216960765	216960765	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:216960765G>T	ENST00000454545.1	+	3	405	c.79G>T	c.(79-81)Gct>Tct	p.A27S	TMEM169_ENST00000437356.2_Missense_Mutation_p.A27S|TMEM169_ENST00000406027.2_Missense_Mutation_p.A27S|TMEM169_ENST00000295658.4_Missense_Mutation_p.A27S	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	27						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGTGGCTGCTGCCCTGGC	0.557000													9	95					7.93312e-07	9.54385e-07	0.020292	1	0
TRIM48	79097	broad.mit.edu	37	11	55032389	55032389	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:55032389G>A	ENST00000417545.2	+	2	144	c.58G>A	c.(58-60)Gga>Aga	p.G20R		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	4						intracellular	zinc ion binding	p.G20R(1)|p.G4R(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CATGAATTCTGGAATCTCGCA	0.468000													8	206					0	0	0.004482	0	0
COLGALT2	23127	broad.mit.edu	37	1	183920218	183920218	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:183920218C>G	ENST00000361927.4	-	8	1430	c.1059G>C	c.(1057-1059)aaG>aaC	p.K353N	COLGALT2_ENST00000367520.3_Missense_Mutation_p.K90N|COLGALT2_ENST00000546159.1_Missense_Mutation_p.K353N	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		CCCGCCTGTCCTTTCTGCGTT	0.428000													9	398					0	0	0.012319	0	0
TBX3	6926	broad.mit.edu	37	12	115120697	115120697	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:115120697G>T	ENST00000349155.2	-	1	1272	c.309C>A	c.(307-309)ccC>ccA	p.P103P	TBX3_ENST00000257566.3_Silent_p.P103P	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	103					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGTGCACCTTGGGGTCGTCCT	0.617000													16	84					8.00594e-06	9.32242e-06	0.007413	1	0
ATP11C	286410	broad.mit.edu	37	X	138880885	138880885	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:138880885T>A	ENST00000370557.1	-	9	1755	c.728A>T	c.(727-729)aAt>aTt	p.N243I	ATP11C_ENST00000370543.1_Missense_Mutation_p.N246I|ATP11C_ENST00000327569.3_Missense_Mutation_p.N246I|ATP11C_ENST00000361648.2_Missense_Mutation_p.N246I|ATP11C_ENST00000359686.2_Missense_Mutation_p.N246I			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	246					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGCAAGAGATTTTCAGGTCC	0.378000													21	101					0	0	0.018920	0	0
PRAME	23532	broad.mit.edu	37	22	22892305	22892305	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr22:22892305G>A	ENST00000543184.1	-	4	1658	c.796C>T	c.(796-798)Ctc>Ttc	p.L266F	PRAME_ENST00000405655.3_Missense_Mutation_p.L266F|PRAME_ENST00000398743.2_Missense_Mutation_p.L266F|PRAME_ENST00000539862.1_Missense_Mutation_p.L250F|PRAME_ENST00000424204.2_Missense_Mutation_p.L250F|PRAME_ENST00000402697.1_Missense_Mutation_p.L266F|PRAME_ENST00000398741.1_Missense_Mutation_p.L266F	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	266					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TGGGAGAGGAGGAGTCTACGC	0.498000													12	62					0	0	0.013537	0	0
TBC1D4	9882	broad.mit.edu	37	13	75886873	75886873	+	Splice_Site	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:75886873C>G	ENST00000377636.3	-	13	2730		c.e13+1		TBC1D4_ENST00000425511.1_Splice_Site|TBC1D4_ENST00000377625.2_Splice_Site|TBC1D4_ENST00000431480.2_Splice_Site	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4							cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GCAACACAGACCTTGCTGTTG	0.478000													5	104					0	0	0.014758	0	0
DNAH7	56171	broad.mit.edu	37	2	196822080	196822080	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:196822080T>A	ENST00000312428.6	-	19	3083	c.2983A>T	c.(2983-2985)Agc>Tgc	p.S995C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	995	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTGGAGAGCTGAAAATGGGC	0.488000													14	157					0	0	0.020292	0	0
NIT1	4817	broad.mit.edu	37	1	161089615	161089615	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:161089615T>A	ENST00000368008.1	+	5	523	c.464T>A	c.(463-465)gTa>gAa	p.V155E	NIT1_ENST00000496861.1_3'UTR|NIT1_ENST00000368009.2_Missense_Mutation_p.V155E|NIT1_ENST00000368007.4_Missense_Mutation_p.V140E|NIT1_ENST00000392190.5_Missense_Mutation_p.V119E	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	nitrilase 1	155	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GTAGGGGCAGTAGTGGCCACT	0.498000											OREG0013937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	67					0	0	0.015359	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41742176	41742176	+	Silent	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr22:41742176G>T	ENST00000352645.4	+	14	1886	c.1629G>T	c.(1627-1629)ctG>ctT	p.L543L	ZC3H7B_ENST00000351589.4_Silent_p.L543L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	559					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCAAGCTCCTGAAGGAGCACC	0.657000													6	16					8.12818e-05	9.14683e-05	0.001984	1	0
USP24	23358	broad.mit.edu	37	1	55637289	55637289	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:55637289C>A	ENST00000294383.6	-	5	764	c.765G>T	c.(763-765)tgG>tgT	p.W255C	USP24_ENST00000407756.1_Missense_Mutation_p.W143C	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	255					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACACTTCTGCCCAATTCCTTT	0.313000													6	21					0.000157383	0.000175071	0.003080	1	0
MYH13	8735	broad.mit.edu	37	17	10248827	10248827	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:10248827T>G	ENST00000418404.3	-	13	1533	c.1370A>C	c.(1369-1371)tAc>tCc	p.Y457S	MYH13_ENST00000570743.1_Missense_Mutation_p.Y457S|MYH13_ENST00000252172.4_Missense_Mutation_p.Y457S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	457	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCCGATGAAGTACTGCCTGGG	0.502000													5	221					0	0	0.014758	0	0
LECT1	11061	broad.mit.edu	37	13	53277900	53277900	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:53277900C>T	ENST00000448904.2	-	7	942	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	LECT1_ENST00000377962.3_Missense_Mutation_p.E279K	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	279					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CAGATTCCTTCGTGATCCAGT	0.453000													5	97					0	0	0.003080	0	0
MYPN	84665	broad.mit.edu	37	10	69918275	69918275	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:69918275G>C	ENST00000358913.5	+	7	1838	c.1350G>C	c.(1348-1350)caG>caC	p.Q450H	MYPN_ENST00000354393.2_Missense_Mutation_p.Q175H|MYPN_ENST00000373675.3_Missense_Mutation_p.Q450H|MYPN_ENST00000540630.1_Missense_Mutation_p.Q450H	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	450	Ig-like 2.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CTGAGGGTCAGCTGGTTGTCT	0.358000													4	75					0	0	0.009096	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32097632	32097632	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:32097632G>C	ENST00000375250.5	-	17	2462	c.2221C>G	c.(2221-2223)Cag>Gag	p.Q741E	ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.Q771E|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.Q719E|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.Q719E|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.Q766E	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	771	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TTTGGCAACTGTCTGATTAGG	0.428000													25	251					0	0	0.006320	0	0
MYH1	4619	broad.mit.edu	37	17	10409183	10409183	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:10409183C>A	ENST00000226207.5	-	19	2214	c.2120G>T	c.(2119-2121)cGc>cTc	p.R707L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	707	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTGCAGATGCGGATGCCTTC	0.438000													4	78					1.23904e-05	1.42941e-05	0.014758	1	0
ZNF165	7718	broad.mit.edu	37	6	28056965	28056965	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:28056965G>A	ENST00000377325.1	+	4	1731	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	392					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R392Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGACATCGGCGAATTCACACT	0.453000													34	140					0	0	0.019004	0	0
DENND5B	160518	broad.mit.edu	37	12	31605212	31605212	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:31605212C>T	ENST00000389082.5	-	5	1555	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N	DENND5B_ENST00000354285.4_Missense_Mutation_p.D453N|DENND5B_ENST00000306833.6_Missense_Mutation_p.D466N|DENND5B_ENST00000536562.1_Missense_Mutation_p.D466N	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	431						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTCTTTTTGTCATTGACCAAG	0.458000													24	194					0	0	0.016522	0	0
CD1E	913	broad.mit.edu	37	1	158324257	158324257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:158324257G>A	ENST00000368160.3	+	2	149	c.149G>A	c.(148-150)tGg>tAg	p.W50*	CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368155.3_Nonsense_Mutation_p.W50*|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000434258.1_Nonsense_Mutation_p.W48*|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Nonsense_Mutation_p.W50*|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368161.3_Nonsense_Mutation_p.W50*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.W50*|CD1E_ENST00000368163.3_Nonsense_Mutation_p.W50*|CD1E_ENST00000368167.3_Nonsense_Mutation_p.W50*|CD1E_ENST00000452291.2_Intron	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	50					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AACCACAGCTGGGCACACAGT	0.577000													55	201					0	0	0.014410	0	0
ZNF430	80264	broad.mit.edu	37	19	21239788	21239788	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:21239788G>C	ENST00000261560.5	+	5	855	c.674G>C	c.(673-675)aGa>aCa	p.R225T		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						CAACATAAAAGAATTCATATT	0.328000													5	27					0	0	0.014758	0	0
ABCB5	340273	broad.mit.edu	37	7	20767983	20767983	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:20767983C>T	ENST00000404938.2	+	23	3424	c.2772C>T	c.(2770-2772)ttC>ttT	p.F924F	ABCB5_ENST00000258738.6_Silent_p.F479F	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	479					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GTTATGCATTCAGCCATGCCT	0.393000													9	187					0	0	0.010729	0	0
DDX60L	91351	broad.mit.edu	37	4	169342946	169342946	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:169342946C>A	ENST00000511577.1	-	17	2606	c.2359G>T	c.(2359-2361)Gat>Tat	p.D787Y	DDX60L_ENST00000260184.7_Missense_Mutation_p.D787Y|DDX60L_ENST00000505890.1_Missense_Mutation_p.D787Y			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	787	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACCCCGACATCGCTCTCCCTC	0.458000													70	299					2.72187e-29	3.9711e-29	0.014410	1	0
CPS1	1373	broad.mit.edu	37	2	211504768	211504768	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:211504768G>T	ENST00000233072.5	+	24	3140	c.2944G>T	c.(2944-2946)Ggt>Tgt	p.G982C	CPS1_ENST00000430249.2_Missense_Mutation_p.G988C|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Missense_Mutation_p.G531C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	982			G -> D (in CPS1D).		carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCTAGGCTGTGGTCCATATCA	0.313000													22	165					1.64293e-13	2.22204e-13	0.018920	1	0
GLI3	2737	broad.mit.edu	37	7	42007333	42007333	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:42007333T>A	ENST00000395925.3	-	14	2376	c.2292A>T	c.(2290-2292)caA>caT	p.Q764H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	764					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTCTCCTGGCTTGCAAAGCAA	0.498000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				17	182					0	0	0.028581	0	0
ANO5	203859	broad.mit.edu	37	11	22294402	22294402	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:22294402A>T	ENST00000324559.8	+	19	2419	c.2102A>T	c.(2101-2103)aAt>aTt	p.N701I	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	701						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCATAAATAATATTGTAGAG	0.383000													5	293					0	0	0.014758	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507415	74507415	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:74507415C>A	ENST00000354431.4	-	7	1391	c.1200G>T	c.(1198-1200)ttG>ttT	p.L400F	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.L400F	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	400										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TACTCCGCTCCAATCGTATGT	0.358000													29	265					3.65163e-15	5.00089e-15	0.006320	1	0
C4orf26	152816	broad.mit.edu	37	4	76489658	76489658	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:76489658A>C	ENST00000435974.2	+	3	464	c.446A>C	c.(445-447)gAg>gCg	p.E149A	C4orf26_ENST00000311623.4_3'UTR	NM_001206981.1	NP_001193910.1	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	0						extracellular region		p.E149G(1)		kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GAGAGGGAAGAGAAACCCAAA	0.383000													22	175					0	0	0.016522	0	0
HMGCS1	3157	broad.mit.edu	37	5	43293064	43293064	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:43293064C>G	ENST00000325110.6	-	9	1401	c.1195G>C	c.(1195-1197)Gat>Cat	p.D399H	HMGCS1_ENST00000433297.2_Missense_Mutation_p.D399H	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	399					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						GTTATTTTATCAAGAGCAGAC	0.348000													3	37					0	0	0.009096	0	0
KCNH7	90134	broad.mit.edu	37	2	163374397	163374397	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:163374397G>C	ENST00000332142.5	-	4	834	c.735C>G	c.(733-735)gaC>gaG	p.D245E	KCNH7_ENST00000328032.4_Missense_Mutation_p.D245E|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	245					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGTAGAGTCGGTCCCATTGCC	0.478000													20	224					0	0	0.014323	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900542	151900542	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:151900542A>G	ENST00000393900.3	-	3	612	c.259T>C	c.(259-261)Tcc>Ccc	p.S87P	MAGEA12_ENST00000393869.3_Missense_Mutation_p.S87P|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.S87P	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	87										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCGTTGCTGGAGCCCTCATCG	0.552000													7	145					0	0	0.003080	0	0
SLC39A12	221074	broad.mit.edu	37	10	18254557	18254557	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:18254557C>T	ENST00000377369.2	+	4	962	c.689C>T	c.(688-690)cCa>cTa	p.P230L	SLC39A12_ENST00000539911.1_Missense_Mutation_p.P96L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.P230L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.P230L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	230					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						TTGCCTTCCCCAGACTACTTT	0.438000													22	123					0	0	0.010504	0	0
OR10A5	144124	broad.mit.edu	37	11	6867338	6867338	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:6867338G>C	ENST00000299454.4	+	1	456	c.425G>C	c.(424-426)cGg>cCg	p.R142P	OR10A5_ENST00000379831.2_Missense_Mutation_p.R146P			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAAGGACACGGGCCAAACTG	0.542000													5	157					0	0	0.004482	0	0
CPXM2	119587	broad.mit.edu	37	10	125521609	125521609	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:125521609C>A	ENST00000241305.3	-	11	1710	c.1556G>T	c.(1555-1557)gGc>gTc	p.G519V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	519					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CACCAGCTCGCCGCCCTGCAG	0.637000													19	174					4.35082e-09	5.57288e-09	0.010504	1	0
SPTA1	6708	broad.mit.edu	37	1	158617372	158617372	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:158617372G>T	ENST00000368148.3	-	27	4033	c.3853C>A	c.(3853-3855)Cta>Ata	p.L1285I	SPTA1_ENST00000368147.3_Missense_Mutation_p.L1285I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1285					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCTCATTTAGGCTCTCCTTA	0.547000													44	180					1.00953e-15	1.3891e-15	0.013114	1	0
KCTD8	386617	broad.mit.edu	37	4	44176935	44176935	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:44176935C>G	ENST00000360029.3	-	2	1577	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	432						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTTAGCTTCTCACAGACTTTC	0.413000										HNSCC(17;0.042)			33	610					0	0	0.015359	0	0
AHNAK	79026	broad.mit.edu	37	11	62284652	62284652	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:62284652G>A	ENST00000378024.4	-	5	17511	c.17237C>T	c.(17236-17238)tCa>tTa	p.S5746L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5746					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCTGGCCTTTGAACTTTTCAG	0.483000													11	148					0	0	0.008291	0	0
COL6A6	131873	broad.mit.edu	37	3	130285829	130285829	+	Silent	SNP	A	A	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:130285829A>C	ENST00000358511.6	+	4	1597	c.1566A>C	c.(1564-1566)acA>acC	p.T522T	COL6A6_ENST00000453409.2_Silent_p.T522T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	522	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAATTTCACACTGAGTCTGT	0.453000													8	72					0	0	0.003080	0	0
NLRP5	126206	broad.mit.edu	37	19	56549486	56549486	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:56549486A>T	ENST00000390649.3	+	10	2711	c.2711A>T	c.(2710-2712)aAc>aTc	p.N904I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	904						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGGCAGGAAACAAGGTGACA	0.547000													13	112					0	0	0.016723	0	0
ZNF347	84671	broad.mit.edu	37	19	53644588	53644588	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:53644588G>C	ENST00000452676.2	-	5	1922	c.1496C>G	c.(1495-1497)tCa>tGa	p.S499*	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Nonsense_Mutation_p.S499*|ZNF347_ENST00000334197.7_Nonsense_Mutation_p.S498*	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGTTAGGTTTGAATGTGCTCT	0.403000													31	205					0	0	0.013726	0	0
FAT4	79633	broad.mit.edu	37	4	126373442	126373442	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:126373442C>A	ENST00000394329.3	+	9	11284	c.11271C>A	c.(11269-11271)aaC>aaA	p.N3757K	FAT4_ENST00000335110.5_Missense_Mutation_p.N2055K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3757					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGAAGAGAACAATAGAACGT	0.438000													6	158					0.00116845	0.00125644	0.021553	1	0
HTR1A	3350	broad.mit.edu	37	5	63256369	63256369	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:63256369G>A	ENST00000323865.3	-	1	1411	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	393					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GTTAAGCAGAGAGTTGGAGTA	0.507000													26	603					0	0	0.021523	0	0
SPEF2	79925	broad.mit.edu	37	5	35792520	35792520	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:35792520G>C	ENST00000440995.2	+	31	4511	c.4511G>C	c.(4510-4512)aGt>aCt	p.S1504T	SPEF2_ENST00000356031.3_Missense_Mutation_p.S1509T|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.S306T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1509					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)			AACTTTCCTAGTAATTGGATG	0.333000													11	400					0	0	0.013537	0	0
GABRA6	2559	broad.mit.edu	37	5	161128507	161128507	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:161128507C>A	ENST00000523217.1	+	9	1302	c.1060C>A	c.(1060-1062)Cct>Act	p.P354T	GABRA6_ENST00000274545.5_Missense_Mutation_p.P364T	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	364					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCCACAGCATCCTGACTCCAA	0.358000										TCGA Ovarian(5;0.080)			28	336					9.78485e-24	1.40174e-23	0.013726	1	0
GPR112	139378	broad.mit.edu	37	X	135430793	135430793	+	Missense_Mutation	SNP	C	C	T	rs146283448		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:135430793C>T	ENST00000394143.1	+	6	5219	c.4928C>T	c.(4927-4929)aCg>aTg	p.T1643M	GPR112_ENST00000412101.1_Missense_Mutation_p.T1438M|GPR112_ENST00000394141.1_Missense_Mutation_p.T1438M|GPR112_ENST00000287534.4_Missense_Mutation_p.T1580M|GPR112_ENST00000370652.1_Missense_Mutation_p.T1643M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1643					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCACACCTACGACCTTTCTC	0.468000													28	1050					0	0	0.027356	0	0
RAD23A	5886	broad.mit.edu	37	19	13063662	13063662	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:13063662G>A	ENST00000586534.1	+	8	1034	c.973G>A	c.(973-975)Gag>Aag	p.E325K	RAD23A_ENST00000316856.3_Missense_Mutation_p.E324K|RAD23A_ENST00000592268.1_Intron|RAD23A_ENST00000541222.1_Missense_Mutation_p.E160K			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	325	HIV-1 vpr binding.|UBA 2.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						AGAAGCTATAGAGAGGGTAAG	0.602000								Nucleotide excision repair (NER)					6	71					0	0	0.001984	0	0
MADD	8567	broad.mit.edu	37	11	47304430	47304430	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:47304430A>G	ENST00000342922.4	+	10	2129	c.1772A>G	c.(1771-1773)cAc>cGc	p.H591R	MADD_ENST00000402799.1_Missense_Mutation_p.H591R|MADD_ENST00000407859.3_Missense_Mutation_p.H591R|MADD_ENST00000349238.3_Missense_Mutation_p.H591R|MADD_ENST00000406482.1_Missense_Mutation_p.H591R|MADD_ENST00000402192.2_Missense_Mutation_p.H591R|MADD_ENST00000311027.5_Missense_Mutation_p.H591R|MADD_ENST00000395344.3_Missense_Mutation_p.H591R|MADD_ENST00000395336.3_Missense_Mutation_p.H591R	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	591					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAGCCTATCCACTATCGCGTC	0.517000													7	46					0	0	0.016723	0	0
FANCM	57697	broad.mit.edu	37	14	45645649	45645649	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:45645649C>T	ENST00000267430.5	+	14	3777	c.3692C>T	c.(3691-3693)aCc>aTc	p.T1231I	FANCM_ENST00000542564.2_Missense_Mutation_p.T1205I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1231					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.T1231I(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTTTCTGTTACCTTTGATTTA	0.338000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	64					0	0	0.006214	0	0
PTPLA	9200	broad.mit.edu	37	10	17632430	17632430	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:17632430T>C	ENST00000361271.3	-	7	837	c.800A>G	c.(799-801)tAt>tGt	p.Y267C		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	267					fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						CATATGAAAATAGAGTTGTGG	0.318000													4	154					0	0	0.009096	0	0
GC	2638	broad.mit.edu	37	4	72631257	72631257	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:72631257C>G	ENST00000273951.8	-	4	708	c.365G>C	c.(364-366)tGc>tCc	p.C122S	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.C122S|GC_ENST00000504199.1_Missense_Mutation_p.C141S	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	122	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	AGCAGCCATGCAGAGCTTTCG	0.507000													7	179					0	0	0.003080	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573446	136573446	+	Silent	SNP	T	T	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:136573446T>C	ENST00000446465.2	+	2	772	c.144T>C	c.(142-144)ttT>ttC	p.F48F	RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.F48F|RP11-85F14.5_ENST00000474250.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	48						Golgi apparatus|integral to membrane											ATGGAAATTTTATGGAGGAAA	0.403000													16	546					0	0	0.007413	0	0
COPG1	22820	broad.mit.edu	37	3	128987441	128987441	+	Silent	SNP	G	G	A	rs36085946		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:128987441G>A	ENST00000314797.6	+	17	1856	c.1752G>A	c.(1750-1752)gcG>gcA	p.A584A		NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	584					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										TGGCCACGGCGCCCATGGCAG	0.552000													12	88					0	0	0.016723	0	0
CA6	765	broad.mit.edu	37	1	9022659	9022659	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:9022659C>A	ENST00000377443.2	+	5	519	c.515C>A	c.(514-516)cCt>cAt	p.P172H	CA6_ENST00000377442.2_Missense_Mutation_p.P112H|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Missense_Mutation_p.P172H	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	172					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		AAGAATTACCCTGAAAACACT	0.498000													15	160					1.5739e-10	2.06767e-10	0.028581	1	0
PLCL2	23228	broad.mit.edu	37	3	17052825	17052825	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:17052825G>C	ENST00000418129.2	+	2	2074	c.1609G>C	c.(1609-1611)Gac>Cac	p.D537H	PLCL2_ENST00000432376.1_Missense_Mutation_p.D537H|PLCL2_ENST00000396755.2_Missense_Mutation_p.D537H	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	663	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AAATCCAGGGGACTTTGTAAA	0.398000													7	177					0	0	0.003080	0	0
ABCG4	64137	broad.mit.edu	37	11	119025542	119025542	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr11:119025542C>T	ENST00000307417.3	+	6	967	c.603C>T	c.(601-603)ctC>ctT	p.L201L	ABCG4_ENST00000531739.1_Silent_p.L201L|ABCG4_ENST00000449422.2_Silent_p.L201L	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	201	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CAGCCCTGCTCTCTGGCGGGC	0.627000													4	175					0	0	0.009096	0	0
NOA1	84273	broad.mit.edu	37	4	57843023	57843023	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:57843023C>T	ENST00000264230.4	-	1	1966	c.729G>A	c.(727-729)ctG>ctA	p.L243L		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	243							GTP binding										CCAGCACGATCAGCTGCTTGG	0.711000													13	70					0	0	0.020292	0	0
POU4F3	5459	broad.mit.edu	37	5	145719677	145719677	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:145719677C>T	ENST00000230732.4	+	2	776	c.687C>T	c.(685-687)tgC>tgT	p.C229C	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	229	POU-specific.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACCATCTGCAGGTTCGAGT	0.637000													21	159					0	0	0.012319	0	0
BBS9	27241	broad.mit.edu	37	7	33313482	33313482	+	Missense_Mutation	SNP	C	C	A	rs140396972		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr7:33313482C>A	ENST00000242067.6	+	9	1451	c.930C>A	c.(928-930)aaC>aaA	p.N310K	BBS9_ENST00000396127.2_Missense_Mutation_p.N310K|BBS9_ENST00000355070.2_Missense_Mutation_p.N310K|BBS9_ENST00000350941.3_Missense_Mutation_p.N310K|BBS9_ENST00000354265.4_Missense_Mutation_p.N310K|BBS9_ENST00000425508.2_Missense_Mutation_p.N265K	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	310					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATCATAATAACATGCTGCATA	0.358000									Bardet-Biedl syndrome				8	86					0.000157383	0.000175071	0.003080	1	0
PSG7	5676	broad.mit.edu	37	19	43439716	43439716	+	RNA	SNP	T	T	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:43439716T>A	ENST00000406070.2	-	0	366				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CAGGCCCATATTTAATTATTT	0.418000													123	883					0	0	0.014410	0	0
ABCC11	85320	broad.mit.edu	37	16	48226495	48226495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:48226495G>T	ENST00000394747.1	-	19	2991	c.2642C>A	c.(2641-2643)tCa>tAa	p.S881*	ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000356608.2_Nonsense_Mutation_p.S881*|ABCC11_ENST00000353782.5_Nonsense_Mutation_p.S881*|ABCC11_ENST00000394748.1_Nonsense_Mutation_p.S881*	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	881	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GAAAATCCCTGAGGAGCAGAC	0.587000													36	116					8.01111e-26	1.16101e-25	0.010771	1	0
UBBP4	23666	broad.mit.edu	37	17	21731271	21731271	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:21731271C>G	ENST00000584755.1	+	2	970	c.573C>G	c.(571-573)atC>atG	p.I191M	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TCCCCCCGATCAGCAGAGGCT	0.547000													4	69					0	0	0.009096	0	0
ZNF197	10168	broad.mit.edu	37	3	44688007	44688007	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:44688007G>A	ENST00000383745.2	+	6	979	c.794G>A	c.(793-795)aGg>aAg	p.R265K	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Missense_Mutation_p.R265K	NM_001024855.1	NP_001020026.1	O14709	ZN197_HUMAN	zinc finger protein 197	0	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		aggaggcagaggaacaaataa	0.383000													6	45					0	0	0.001984	0	0
KDR	3791	broad.mit.edu	37	4	55958791	55958791	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:55958791G>A	ENST00000263923.4	-	22	3357	c.3062C>T	c.(3061-3063)tCg>tTg	p.S1021L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1021	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TACCTTTCGCGATGCCAAGAA	0.458000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			17	122					0	0	0.004990	0	0
COL9A2	1298	broad.mit.edu	37	1	40775972	40775972	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:40775972C>A	ENST00000372748.3	-	14	798	c.702G>T	c.(700-702)agG>agT	p.R234S		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	234	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CTGGGTAGCCCCTGATGCCCT	0.537000													9	88					1.5842e-08	2.0085e-08	0.016723	1	0
ASIC2	40	broad.mit.edu	37	17	31355401	31355401	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:31355401G>T	ENST00000225823.2	-	4	1869	c.997C>A	c.(997-999)Ctg>Atg	p.L333M	ASIC2_ENST00000359872.6_Missense_Mutation_p.L282M|ASIC2_ENST00000448983.1_5'UTR	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	282					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GGTGGGGGCAGGTATGTGAGC	0.512000													11	72					4.36969e-10	5.67213e-10	0.016723	1	0
LRRK2	120892	broad.mit.edu	37	12	40745422	40745422	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:40745422A>T	ENST00000298910.7	+	44	6521	c.6463A>T	c.(6463-6465)Atg>Ttg	p.M2155L		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2155					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGTTGAATGCATGGTTGCTAC	0.408000													13	67					0	0	0.016723	0	0
TMC1	117531	broad.mit.edu	37	9	75403352	75403352	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr9:75403352C>A	ENST00000297784.5	+	14	1522	c.982C>A	c.(982-984)Cct>Act	p.P328T	TMC1_ENST00000340019.3_Missense_Mutation_p.P328T|TMC1_ENST00000396237.3_Missense_Mutation_p.P328T	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	328					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GATCGGCAATCCTGAAACAGC	0.393000													5	176					0.0215528	0.0223482	0.021553	1	0
LRRFIP1	9208	broad.mit.edu	37	2	238671518	238671518	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:238671518G>C	ENST00000244815.5	+	10	1330	c.1090G>C	c.(1090-1092)Gtt>Ctt	p.V364L	LRRFIP1_ENST00000392000.4_Missense_Mutation_p.V388L|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.V332L|LRRFIP1_ENST00000308482.9_Intron	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	388					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CACAGTACAGGTTGAGTCAAA	0.498000													5	76					0	0	0.014758	0	0
CCDC39	339829	broad.mit.edu	37	3	180377327	180377327	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:180377327A>T	ENST00000273654.4	-	12	1522	c.903T>A	c.(901-903)caT>caA	p.H301Q	CCDC39_ENST00000442201.2_Missense_Mutation_p.H217Q			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	217					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTCTTTCATTATGAATCTTAC	0.358000													15	154					0	0	0.028581	0	0
RXFP1	59350	broad.mit.edu	37	4	159533309	159533309	+	Silent	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:159533309C>T	ENST00000307765.5	+	7	815	c.564C>T	c.(562-564)ttC>ttT	p.F188F	RXFP1_ENST00000470033.1_Silent_p.F155F|RXFP1_ENST00000343542.5_Silent_p.F188F|RXFP1_ENST00000460056.2_Silent_p.F107F|RXFP1_ENST00000448688.2_Silent_p.F107F	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	188						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GAATAACCTTCCTGAAGCCGG	0.299000													28	325					0	0	0.010818	0	0
WNK1	65125	broad.mit.edu	37	12	991215	991215	+	Silent	SNP	A	A	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:991215A>T	ENST00000537687.1	+	14	4771	c.4128A>T	c.(4126-4128)tcA>tcT	p.S1376S	WNK1_ENST00000530271.2_Silent_p.S1614S|WNK1_ENST00000535572.1_Silent_p.S869S|WNK1_ENST00000315939.6_Silent_p.S1116S|WNK1_ENST00000340908.4_Silent_p.S709S	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1116					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AAAAAACTTCACGCCCAAAAT	0.363000													3	15					0	0	0.009096	0	0
CA5A	763	broad.mit.edu	37	16	87960443	87960443	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr16:87960443C>T	ENST00000309893.2	-	2	316	c.251G>A	c.(250-252)aGg>aAg	p.R84K	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	84					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		ATAGGAGACCCTGAGTGGCTT	0.597000													3	13					0	0	0.004672	0	0
PAQR8	85315	broad.mit.edu	37	6	52268418	52268418	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:52268418C>T	ENST00000442253.2	+	2	581	c.407C>T	c.(406-408)tCa>tTa	p.S136L	PAQR8_ENST00000360726.3_Missense_Mutation_p.S136L	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	136					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CAGTCCAAGTCAGAGCTCTCC	0.537000													33	215					0	0	0.027894	0	0
PRKD1	5587	broad.mit.edu	37	14	30108094	30108094	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:30108094T>G	ENST00000331968.5	-	5	942	c.713A>C	c.(712-714)gAg>gCg	p.E238A	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Missense_Mutation_p.E246A	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	238					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AATAAACGACTCTGATGGTGA	0.338000													9	129					0	0	0.013537	0	0
CD244	51744	broad.mit.edu	37	1	160806015	160806015	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr1:160806015delC	ENST00000368034.4	-	6	1041	c.864delG	c.(862-864)ggfs	p.G288fs	CD244_ENST00000322302.7_Frame_Shift_Del_p.G196fs|CD244_ENST00000481677.1_Intron|CD244_ENST00000368033.3_Frame_Shift_Del_p.G293fs|CD244_ENST00000368032.2_Frame_Shift_Del_p.G288fs	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	293					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)			AGATGGTGCTCCCCCCTCCAG	0.507													19	49	---	---	---	---					
RGPD3	653489	broad.mit.edu	37	2	107041229	107041230	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr2:107041229_107041230insC	ENST00000409886.3	-	20	3280_3281	c.3193_3194insG	c.(3193-3195)aaafs	p.K1065fs	RGPD3_ENST00000304514.7_Frame_Shift_Ins_p.K1065fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1065	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AAATAGTTTTACCCCCTGTGAA	0.391													7	725	---	---	---	---					
SCN10A	6336	broad.mit.edu	37	3	38738896	38738899	+	Frame_Shift_Del	DEL	AGCT	AGCT	-			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:38738896_38738899delAGCT	ENST00000449082.2	-	27	5811_5814	c.5812_5815delAGCT	c.(5812-5817)cafs	p.SS1938fs		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1938					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTTTGTATTGAGCTAGATGTCCTC	0.475													59	264	---	---	---	---					
IFRD2	7866	broad.mit.edu	37	3	50326997	50326998	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr3:50326997_50326998insC	ENST00000436390.1	-	10	1156_1157	c.659_660insG	c.(658-660)gagfs	p.E220fs	IFRD2_ENST00000429673.2_Frame_Shift_Ins_p.E284fs|IFRD2_ENST00000417626.2_Frame_Shift_Ins_p.E220fs|IFRD2_ENST00000336089.4_Frame_Shift_Ins_p.E386fs			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	284							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTGTGGAGCTGCCCCCCAAGCC	0.604													2	4	---	---	---	---					
NKX3-2	579	broad.mit.edu	37	4	13545701	13545702	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr4:13545701_13545702insC	ENST00000382438.5	-	1	972_973	c.337_338insG	c.(337-339)cagfs	p.Q113fs		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	113					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						ggccccgctggccccccgcgcg	0.743													2	4	---	---	---	---					
MYO10	4651	broad.mit.edu	37	5	16701082	16701083	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:16701082_16701083insC	ENST00000513610.1	-	25	3875_3876	c.3421_3422insG	c.(3421-3423)gcafs	p.A1141fs	MYO10_ENST00000505695.1_Frame_Shift_Ins_p.A480fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.A498fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.A498fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.A480fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1141					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.A1141V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGAGGACTGCGCCCCCTCAGAG	0.609													2	4	---	---	---	---					
PCDHA9	9752	broad.mit.edu	37	5	140229258	140229259	+	Frame_Shift_Ins	INS	-	-	G	rs138948867	byFrequency	TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:140229258_140229259insG	ENST00000378122.3	+	1	1902_1903	c.1178_1179insG	c.(1177-1179)gccfs	p.A393fs	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Frame_Shift_Ins_p.A393fs|PCDHA4_ENST00000530339.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCCCCACGTCCCCTTCAAGC	0.569													7	85	---	---	---	---					
ATP10B	23120	broad.mit.edu	37	5	160071224	160071224	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr5:160071224delG	ENST00000327245.5	-	9	1635	c.789delC	c.(787-789)ggfs	p.G263fs		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	263					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACAGCCAAAGCCAGTCCTGG	0.517													8	136	---	---	---	---					
BAI3	577	broad.mit.edu	37	6	69349117	69349117	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr6:69349117delG	ENST00000370598.1	+	3	1371	c.550delG	c.(550-552)ggfs	p.G184fs		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	184					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCAGAAAATGGGAGAACAGA	0.418													47	206	---	---	---	---					
RP11-10H3.1	0	broad.mit.edu	37	8	50103332	50103333	+	RNA	INS	-	-	CTTC	rs79172779	by1000genomes	TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr8:50103332_50103333insCTTC	ENST00000518222.1	+	0	271																											ttccttccttcctttcttcctt	0.416													2	4	---	---	---	---					
SHB	6461	broad.mit.edu	37	9	38068518	38068519	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr9:38068518_38068519insG	ENST00000377707.3	-	1	689_690	c.124_125insC	c.(124-126)ggcfs	p.G42fs	RP11-613M10.9_ENST00000540557.1_Frame_Shift_Ins_p.G42fs|SHB_ENST00000377700.4_Frame_Shift_Ins_p.G42fs	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	42	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CGGCACGGCCTGGGGGGGCTGC	0.752													2	4	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	17110603	17110603	+	Splice_Site	DEL	C	C	-			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr10:17110603delC	ENST00000377833.4	-	20	2857		c.e20+1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGTCTCTTACCCAAATCCTC	0.328													7	403	---	---	---	---					
SCARB1	949	broad.mit.edu	37	12	125263027	125263028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:125263027_125263028insG	ENST00000339570.5	-	12	1702_1703	c.1506_1507insC	c.(1504-1509)ccgcccfs	p.P503fs	SCARB1_ENST00000376788.1_3'UTR|SCARB1_ENST00000415380.2_3'UTR|SCARB1_ENST00000261693.6_3'UTR	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	0					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCTGTGGGGCTGGGGGGCTGTC	0.683													2	4	---	---	---	---					
ZNF10	7556	broad.mit.edu	37	12	133732811	133732812	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr12:133732811_133732812insT	ENST00000248211.6	+	5	1201_1202	c.979_980insT	c.(979-981)aaafs	p.K327fs	ZNF10_ENST00000426665.2_Frame_Shift_Ins_p.K327fs|ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Frame_Shift_Ins_p.K193fs	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TAAAGAATGTGGAAAATCCTTC	0.411													23	135	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25539162	25539163	+	RNA	INS	-	-	AC	rs57755956		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:25539162_25539163insAC	ENST00000429698.1	-	0	282																											ACACAGAAAAGacacacacaca	0.406													2	4	---	---	---	---					
FREM2	341640	broad.mit.edu	37	13	39446959	39446960	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr13:39446959_39446960insG	ENST00000280481.7	+	17	8280_8281	c.8064_8065insG	c.(8062-8067)gtgaggfs	p.R2689fs		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2689					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCGTGGGGGTAGGAGGCTGGCA	0.495													9	238	---	---	---	---					
SNORA11	677799	broad.mit.edu	37	14	70270922	70270922	+	RNA	DEL	T	T	-	rs11429169		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:70270922delT	ENST00000408133.1	-	0	126																											ATGGATTCTCTTTTTTTTTTT	0.353													4	8	---	---	---	---					
KIF26A	26153	broad.mit.edu	37	14	104642924	104642925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr14:104642924_104642925insC	ENST00000315264.7	+	11	3760_3761	c.3382_3383insC	c.(3382-3384)cccfs	p.P1128fs	KIF26A_ENST00000423312.2_Frame_Shift_Ins_p.P1267fs			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1267					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CACACTTGGCTCCCCCCGGCTG	0.693													2	4	---	---	---	---					
RP11-208K4.1	0	broad.mit.edu	37	15	48244722	48244725	+	RNA	DEL	TGTG	TGTG	-	rs34501558		TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr15:48244722_48244725delTGTG	ENST00000560900.1	+	0	195																											TAACCTCATCtgtgtgtgtgtgtg	0.431													2	4	---	---	---	---					
TRIM25	7706	broad.mit.edu	37	17	54978829	54978830	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr17:54978829_54978830insT	ENST00000316881.4	-	4	1086_1087	c.1037_1038insA	c.(1036-1038)agafs	p.R346fs	TRIM25_ENST00000537230.1_Frame_Shift_Ins_p.R346fs	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	346	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GCTTCAGCTCGTTTTTGAGGTC	0.564													7	940	---	---	---	---					
ZNF43	7594	broad.mit.edu	37	19	22001953	22001953	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:22001953delT	ENST00000594012.1	-	5	570	c.56delA	c.(55-57)cgfs	p.Q20fs	ZNF43_ENST00000598288.1_Frame_Shift_Del_p.Q20fs|ZNF43_ENST00000354959.4_Frame_Shift_Del_p.Q26fs|ZNF43_ENST00000595461.1_Frame_Shift_Del_p.Q20fs|ZNF43_ENST00000598381.1_Frame_Shift_Del_p.Q20fs	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	26	KRAB.				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)		TAAATTCTGCTGTGCAATGTC	0.393													19	227	---	---	---	---					
ZNF816	125893	broad.mit.edu	37	19	53453459	53453460	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr19:53453459_53453460delGT	ENST00000357666.4	-	5	1868_1869	c.1568_1569delAC	c.(1567-1569)cfs	p.H523fs	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Frame_Shift_Del_p.H523fs	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GTCTTTCAAGGTGTGATCTGCG	0.406													9	221	---	---	---	---					
IL10RB	3588	broad.mit.edu	37	21	34668489	34668489	+	Splice_Site	DEL	T	T	-			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chr21:34668489delT	ENST00000290200.2	+	7	913	c.804_splice	c.e7-1	p.F269_splice		NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						CCCTCCACAGTTTTTGGGCCA	0.378													7	606	---	---	---	---					
NRK	203447	broad.mit.edu	37	X	105152792	105152792	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z056-01A-01W-0747-08	TCGA-17-Z056-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6cb3d63-5a55-4eba-84d2-a25917c7b18e	bff97ed8-5168-4367-8f15-29849ce29f87	g.chrX:105152792delG	ENST00000428173.2	+	13	1465	c.1162delG	c.(1162-1164)ggfs	p.G388fs	NRK_ENST00000243300.9_Frame_Shift_Del_p.G387fs			Q7Z2Y5	NRK_HUMAN	Nik related kinase	387							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGTCCTGCATGGGGAACCCTC	0.532										HNSCC(51;0.14)			15	95	---	---	---	---					
