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
ERCC8	1161	broad.mit.edu	37	5	60186872	60186872	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:60186872C>T	ENST00000426742.2	-	11	1145	c.711G>A	c.(709-711)ttG>ttA	p.L237L	ERCC8_ENST00000543101.1_Silent_p.L142L|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000265038.5_Silent_p.L295L			Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 8	295					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				CAGTGAATTTCAATCCTTTTT	0.328000													8	100					0	0	1	0	0
MRPS12	6183	broad.mit.edu	37	19	39422995	39422995	+	Silent	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:39422995C>G	ENST00000407800.2	+	2	413	c.72C>G	c.(70-72)ctC>ctG	p.L24L	SARS2_ENST00000448145.2_Intron|MRPS12_ENST00000308018.4_Silent_p.L24L|MRPS12_ENST00000402029.3_Silent_p.L24L|CTC-360G5.8_ENST00000599996.1_Intron	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	24					translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TTCCCCGGCTCTGGGCTACCT	0.622000													10	88					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46314558	46314558	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr4:46314558T>G	ENST00000510861.1	-	5	604	c.431A>C	c.(430-432)aAg>aCg	p.K144T	GABRA2_ENST00000540012.1_Missense_Mutation_p.K89T|GABRA2_ENST00000381620.4_Missense_Mutation_p.K144T|GABRA2_ENST00000515082.1_Missense_Mutation_p.K144T|GABRA2_ENST00000514090.1_Missense_Mutation_p.K144T|GABRA2_ENST00000507069.1_Missense_Mutation_p.K144T|GABRA2_ENST00000356504.1_Missense_Mutation_p.K144T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	144					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCGAAGCAACTTATTTGGCAT	0.338000													6	139					0	0	1	0	0
CAPZB	832	broad.mit.edu	37	1	19683147	19683147	+	Silent	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:19683147T>G	ENST00000264203.3	-	7	1141	c.648A>C	c.(646-648)ggA>ggC	p.G216G	CAPZB_ENST00000401084.2_Silent_p.G190G|CAPZB_ENST00000264202.6_Silent_p.G190G|CAPZB_ENST00000375144.1_Silent_p.G178G|CAPZB_ENST00000433834.1_Silent_p.G219G|CAPZB_ENST00000375142.1_Silent_p.G190G	NM_001206541.2	NP_001193470.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	190					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TAAGGCTGCCTCCGAGGTTCA	0.577000													5	158					0	0	1	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235618938	235618938	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:235618938C>A	ENST00000366600.3	-	9	1312	c.1084G>T	c.(1084-1086)Gac>Tac	p.D362Y		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	362					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GCTTCGAGGTCTATGTAACAG	0.413000													13	69					1.61879e-10	1.73896e-10	1	1	0
PER1	5187	broad.mit.edu	37	17	8044597	8044597	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:8044597G>C	ENST00000317276.4	-	23	3899	c.3662C>G	c.(3661-3663)tCa>tGa	p.S1221*	PER1_ENST00000581082.1_Nonsense_Mutation_p.S1198*	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1221	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATCCAGCTCTGAGAAGAGTGG	0.627000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					7	94					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677536	100677536	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:100677536A>C	ENST00000306151.4	+	3	2903	c.2839A>C	c.(2839-2841)Act>Cct	p.T947P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	947	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTTTCAGCAACTCCTGTTGA	0.512000													9	687					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230301	56230301	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:56230301T>C	ENST00000279791.1	-	1	576	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GTGATTTCTTTGATGTGCACT	0.423000													4	59					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56638175	56638175	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:56638175C>T	ENST00000267116.7	-	25	2888	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	923							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TTCTTGTTCTCATCCAACACA	0.507000													5	45					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4725372	4725372	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:4725372G>C	ENST00000354582.6	+	28	3738	c.3388G>C	c.(3388-3390)Gat>Cat	p.D1130H	ITPR1_ENST00000423119.2_Missense_Mutation_p.D1121H|ITPR1_ENST00000357086.4_Missense_Mutation_p.D1121H|ITPR1_ENST00000456211.2_Missense_Mutation_p.D1106H|ITPR1_ENST00000443694.2_Missense_Mutation_p.D1115H|ITPR1_ENST00000302640.8_Missense_Mutation_p.D1115H|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1130					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACAAGACTTGGATCAACTGAG	0.463000													4	104					0	0	1	0	0
MRPS9	64965	broad.mit.edu	37	2	105665731	105665731	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:105665731G>C	ENST00000258455.3	+	2	348	c.238G>C	c.(238-240)Gag>Cag	p.E80Q		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	80					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCAGATTGAAGAGTTCAACAT	0.348000													4	110					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													4	30					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725251	106725251	+	RNA	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr14:106725251G>C	ENST00000390609.2	-	0	379																											CTGTTCATTTGCAGATACAGC	0.522000													7	645					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47856509	47856509	+	Silent	SNP	G	G	A	rs139215111		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:47856509G>A	ENST00000328771.4	+	2	571	c.222G>A	c.(220-222)aaG>aaA	p.K74K		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	74						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGAATCTCAAGACCTCCAGGA	0.537000													4	125					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201193807	201193807	+	Splice_Site	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:201193807G>T	ENST00000335211.4	+	21	10421	c.10291G>T	c.(10291-10293)Gcc>Tcc	p.A3431S	IGFN1_ENST00000295591.8_Intron	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTTTCTCAGGCCATGCCCAT	0.532000													6	37					5.9392e-07	6.35236e-07	1	1	0
JUN	3725	broad.mit.edu	37	1	59247951	59247951	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:59247951G>C	ENST00000371222.2	-	1	1834	c.792C>G	c.(790-792)atC>atG	p.I264M		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	264					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	p.I264M(1)		breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	TGGAGGCAGCGATGCGGTTCC	0.612000			A		sarcoma								6	77					0	0	1	0	0
ZNF587	84914	broad.mit.edu	37	19	58367546	58367546	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:58367546G>T	ENST00000339656.5	+	2	290	c.108G>T	c.(106-108)caG>caT	p.Q36H	ZNF814_ENST00000597832.1_Intron|CTD-2583A14.10_ENST00000598031.1_Missense_Mutation_p.Q36H|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.Q35H|ZNF587_ENST00000419854.1_5'UTR|ZNF587B_ENST00000316462.4_3'UTR|ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q36H(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GTGAGGCTCAGAGGTGCTTGT	0.498000													12	107					0.000219431	0.000227764	1	1	0
SMAD3	4088	broad.mit.edu	37	15	67477081	67477081	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr15:67477081C>T	ENST00000327367.4	+	7	1198	c.888C>T	c.(886-888)ctC>ctT	p.L296L	SMAD3_ENST00000540846.2_Silent_p.L191L|SMAD3_ENST00000537194.2_Silent_p.L101L|SMAD3_ENST00000439724.3_Silent_p.L252L	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	296	MH2.|Sufficient for interaction with XPO4.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GCGTGCGGCTCTACTACATCG	0.587000													4	62					0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169437400	169437400	+	Silent	SNP	G	G	A	rs149313767		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:169437400G>A	ENST00000236137.5	-	5	1550	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	SLC19A2_ENST00000367804.4_Silent_p.L237L	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	438					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					CAATTAGAGTGAGCAGCGTCT	0.438000													13	82					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11898675	11898675	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:11898675G>A	ENST00000346436.6	+	22	2539	c.2487G>A	c.(2485-2487)acG>acA	p.T829T	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.T807T|CLCN6_ENST00000376496.3_Silent_p.T829T	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	829	CBS 2.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTCAGAACGATGGGCCTGC	0.617000											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	70					0	0	1	0	0
IGLV2-8	28817	broad.mit.edu	37	22	23165585	23165585	+	RNA	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr22:23165585C>A	ENST00000390317.2	+	0	318																											GTGGTTATAACTATGTCTCCT	0.577000													41	370					4.16155e-14	4.48026e-14	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168096396	168096396	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:168096396C>G	ENST00000409195.1	+	6	979	c.890C>G	c.(889-891)tCa>tGa	p.S297*	XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S297*|XIRP2_ENST00000420519.1_Nonsense_Mutation_p.S330*|XIRP2_ENST00000409728.1_Nonsense_Mutation_p.S330*|XIRP2_ENST00000409756.2_Nonsense_Mutation_p.S297*|XIRP2_ENST00000409605.1_Nonsense_Mutation_p.S75*|XIRP2_ENST00000409043.1_Nonsense_Mutation_p.S297*|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S75*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	122					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						GTTGGCACTTCAAGAAGCAGC	0.378000													5	78					0	0	1	0	0
ZNF587	84914	broad.mit.edu	37	19	58367498	58367498	+	Silent	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:58367498G>T	ENST00000339656.5	+	2	242	c.60G>T	c.(58-60)gtG>gtT	p.V20V	ZNF814_ENST00000597832.1_Intron|CTD-2583A14.10_ENST00000598031.1_Silent_p.V20V|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Silent_p.V19V|ZNF587_ENST00000419854.1_5'UTR|ZNF587B_ENST00000316462.4_3'UTR|ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TTGAAGATGTGGCTGTGAACT	0.527000													7	157					0.00829132	0.00844581	1	1	0
PDIA4	9601	broad.mit.edu	37	7	148702312	148702312	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:148702312C>G	ENST00000286091.4	-	9	1675	c.1443G>C	c.(1441-1443)gaG>gaC	p.E481D		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	481					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TCTTCCCACTCTCGTCCAGGA	0.582000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	192					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155508040	155508040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr4:155508040G>A	ENST00000302053.3	-	5	619	c.541C>T	c.(541-543)Cga>Tga	p.R181*	FGA_ENST00000403106.3_Nonsense_Mutation_p.R181*	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	181					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CATGACCCTCGACAAGATCGG	0.403000													4	83					0	0	1	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39413828	39413828	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr22:39413828G>A	ENST00000361441.4	+	3	512	c.232G>A	c.(232-234)Gac>Aac	p.D78N	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C						DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					GTTCTGCGACGACATACTGTC	0.572000													7	213					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26507068	26507068	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:26507068C>T	ENST00000361530.6	+	2	322	c.177C>T	c.(175-177)ctC>ctT	p.L59L	CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000374253.5_Silent_p.L59L			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	59	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGGAGCTCATCCTGGGCG	0.642000													9	60					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160819070	160819070	+	Silent	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:160819070C>G	ENST00000392145.1	+	2	516	c.489C>G	c.(487-489)ctC>ctG	p.L163L	SLC22A3_ENST00000275300.2_Silent_p.L163L			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	163						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TCCTGAACCTCGGCTTCCTGA	0.463000													4	124					0	0	1	0	0
SLC51A	200931	broad.mit.edu	37	3	195953840	195953840	+	Silent	SNP	G	G	T	rs145068718	byFrequency	TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:195953840G>T	ENST00000296327.5	+	3	347	c.138G>T	c.(136-138)ctG>ctT	p.L46L		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		CTCTAGCCCTGGGCCCTGTGG	0.592000													7	88					0.00198382	0.00203341	1	1	0
ANO6	196527	broad.mit.edu	37	12	45803231	45803231	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:45803231A>G	ENST00000320560.8	+	16	2174	c.1972A>G	c.(1972-1974)Atg>Gtg	p.M658V	ANO6_ENST00000435642.1_Missense_Mutation_p.M658V|ANO6_ENST00000425752.2_Missense_Mutation_p.M658V|ANO6_ENST00000423947.3_Missense_Mutation_p.M679V|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Missense_Mutation_p.M640V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	658					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.M658V(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCTGCAGCCTATGGGCAAACT	0.378000													10	155					0	0	1	0	0
TUBA1B	10376	broad.mit.edu	37	12	49521941	49521941	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:49521941C>G	ENST00000336023.5	-	4	1250	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	386					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GCCCAGGCCTCAGCAATGGCT	0.577000													4	81					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115970461	115970461	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:115970461C>T	ENST00000251864.2	+	12	1659	c.1506C>T	c.(1504-1506)caC>caT	p.H502H	TDRD1_ENST00000369281.2_Silent_p.H502H|TDRD1_ENST00000422662.1_Silent_p.H163H|TDRD1_ENST00000369280.1_Silent_p.H502H|TDRD1_ENST00000369282.1_Silent_p.H502H	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	502					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGGTTGCCCACATTCAAACAC	0.383000													11	85					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112496	44112496	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:44112496C>G	ENST00000361807.3	+	5	1199	c.1005C>G	c.(1003-1005)ttC>ttG	p.F335L	ZNF485_ENST00000374435.3_Missense_Mutation_p.F335L|ZNF485_ENST00000374437.2_Missense_Mutation_p.F244L	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GAAAATCTTTCAGGTATAGCT	0.428000													11	83					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109854613	109854613	+	Silent	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:109854613T>C	ENST00000424296.2	-	28	3487	c.3411A>G	c.(3409-3411)ggA>ggG	p.G1137G	AK9_ENST00000355283.1_Silent_p.G216G|AK9_ENST00000341338.6_Silent_p.G216G	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		ATCCACGATCTCCCAAAAACT	0.358000													6	110					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588547	247588547	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:247588547C>G	ENST00000366497.2	+	4	2582	c.1802C>G	c.(1801-1803)tCt>tGt	p.S601C	NLRP3_ENST00000366496.2_Missense_Mutation_p.S601C|NLRP3_ENST00000391827.2_Missense_Mutation_p.S601C|NLRP3_ENST00000348069.2_Missense_Mutation_p.S601C|NLRP3_ENST00000391828.3_Missense_Mutation_p.S601C|NLRP3_ENST00000336119.3_Missense_Mutation_p.S601C|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	601					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGCAAGATCTCTCAGCAAATC	0.443000													10	70					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560153	210560153	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:210560153G>A	ENST00000360351.4	+	7	3765	c.3259G>A	c.(3259-3261)Gag>Aag	p.E1087K	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1083K|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1087					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGCACCGCAGGAGGCAGATGC	0.488000													4	84					0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79255389	79255389	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:79255389A>T	ENST00000272324.5	+	6	699	c.515A>T	c.(514-516)aAg>aTg	p.K172M	REG3G_ENST00000409471.1_Missense_Mutation_p.K126M|REG3G_ENST00000393897.2_Missense_Mutation_p.K172M	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	172	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TATGTCTGCAAGTTCAAGGAC	0.483000													4	93					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185704088	185704088	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:185704088G>A	ENST00000271588.4	+	1	406	c.177G>A	c.(175-177)gtG>gtA	p.V59V	HMCN1_ENST00000367492.2_Silent_p.V59V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	59	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAGTTCAGGTGATTGAAGGGG	0.453000													5	101					0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3757700	3757700	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:3757700C>T	ENST00000252322.1	-	11	1594	c.1126G>A	c.(1126-1128)Ggt>Agt	p.G376S	EFCAB4B_ENST00000440314.2_Intron|EFCAB4B_ENST00000444507.1_Intron	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	376					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CAGTGCCCACCGACGCACCTT	0.597000													7	39					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475338	50475338	+	RNA	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:50475338C>G	ENST00000602139.1	+	0	1284									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						CAGCGCGTCTCTCTCAGCTTC	0.667000													6	41					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8620611	8620611	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:8620611G>A	ENST00000338257.8	-	2	340	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	25	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATCTGGGGAAGAAGCACCATG	0.647000													4	64					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94197621	94197621	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr13:94197621A>G	ENST00000377047.4	+	2	881	c.266A>G	c.(265-267)gAg>gGg	p.E89G		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	89						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CTTGTGGAAGAGACAAGCCAT	0.403000													7	181					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9021200	9021200	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:9021200C>G	ENST00000299698.7	+	32	4309	c.4129C>G	c.(4129-4131)Ccc>Gcc	p.P1377A	A2ML1_ENST00000539547.1_Missense_Mutation_p.P886A	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1221						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGGGTTCAGTCCCATGGAGGG	0.423000													10	141					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77294698	77294698	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr14:77294698C>T	ENST00000393774.3	+	2	277	c.153C>T	c.(151-153)tcC>tcT	p.S51S	C14orf166B_ENST00000216453.5_Silent_p.S8S|C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Silent_p.S34S	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	51										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AGGCCGAATCCCCGCCGACTG	0.502000													15	55					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160097407	160097407	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:160097407G>A	ENST00000361216.3	+	8	903	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A272T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	272					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGCTACTCTCGCCTCAGGCCT	0.587000													14	77					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186644473	186644473	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:186644473A>G	ENST00000367468.5	-	9	1449	c.1313T>C	c.(1312-1314)aTt>aCt	p.I438T	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	438				I -> T (in Ref. 1; AAA35803).	cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GCTCTGGTCAATGGAAGCCTG	0.398000													6	88					0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205799455	205799455	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:205799455G>A	ENST00000367136.4	-	12	1382	c.1338C>T	c.(1336-1338)ggC>ggT	p.G446G	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	446						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ACCTGTAGATGCCAGTGGTGA	0.448000													7	80					0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131502	35131502	+	RNA	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:35131502G>A	ENST00000436258.1	-	0	1867																											ACAATGGGATGAAGTGTAGAC	0.408000													12	85					0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183707229	183707229	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:183707229T>C	ENST00000295113.4	-	3	1178	c.569A>G	c.(568-570)tAt>tGt	p.Y190C		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	190	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GTTCCGGAAATAGGTCTTCTG	0.363000													7	108					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207741280	207741280	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:207741280A>G	ENST00000367049.4	+	25	4064	c.4064A>G	c.(4063-4065)gAc>gGc	p.D1355G	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.D905G|CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Missense_Mutation_p.D905G|CR1_ENST00000400960.2_Missense_Mutation_p.D905G	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	905	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCCCACCCAGACAGAGGGACG	0.542000													7	209					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94034041	94034041	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:94034041G>A	ENST00000297268.6	+	8	832	c.361G>A	c.(361-363)Ggt>Agt	p.G121S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	121					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGAGCCTGGTGAACCTGG	0.383000										HNSCC(75;0.22)			8	161					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201060815	201060815	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:201060815T>C	ENST00000362061.3	-	5	873	c.647A>G	c.(646-648)gAg>gGg	p.E216G	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E216G	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	216					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTTGAAGAGCTCCAGCCCGAT	0.557000													8	111					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403							protein binding	p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507000													4	142					1.23904e-05	1.30537e-05	1	1	0
ZNF202	7753	broad.mit.edu	37	11	123601209	123601209	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:123601209T>C	ENST00000336139.4	-	3	750	c.388A>G	c.(388-390)Aga>Gga	p.R130G	ZNF202_ENST00000530393.1_Missense_Mutation_p.R130G|ZNF202_ENST00000529691.1_Missense_Mutation_p.R130G			O95125	ZN202_HUMAN	zinc finger protein 202	130					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CGCCTTGGTCTCCTGGGTTGT	0.607000													6	135					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151166406	151166406	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:151166406C>T	ENST00000282466.3	-	4	1362	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N		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	455					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)			ATTTGAGCATCACTGGAGTAC	0.423000													11	111					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21723368	21723368	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr18:21723368C>G	ENST00000399496.3	+	3	355	c.190C>G	c.(190-192)Cag>Gag	p.Q64E	CABYR_ENST00000327201.6_Intron|CABYR_ENST00000415309.2_Missense_Mutation_p.Q64E|CABYR_ENST00000399499.1_Missense_Mutation_p.Q64E|CABYR_ENST00000581397.1_Missense_Mutation_p.Q64E|CABYR_ENST00000399481.2_Intron	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	64					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					ACAATTTCATCAGATTAAAGG	0.284000													3	31					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84804399	84804399	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:84804399A>T	ENST00000389394.3	+	13	2080	c.1943A>T	c.(1942-1944)gAa>gTa	p.E648V	DNAH6_ENST00000398278.2_Missense_Mutation_p.E648V|DNAH6_ENST00000237449.6_Missense_Mutation_p.E648V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	648	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTTTTTAGTGAACAACTGGAA	0.303000													6	87					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10404756	10404756	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:10404756G>C	ENST00000221980.4	+	8	1815	c.1752G>C	c.(1750-1752)tgG>tgC	p.W584C		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	584	Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCAGCAATTGGACATGGGTGG	0.652000													8	102					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6853999	6853999	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:6853999G>A	ENST00000304076.2	+	25	2402	c.2308G>A	c.(2308-2310)Gac>Aac	p.D770N	VAV1_ENST00000602142.1_Missense_Mutation_p.D792N|VAV1_ENST00000539284.1_Missense_Mutation_p.D695N|VAV1_ENST00000596764.1_Missense_Mutation_p.D760N|VAV1_ENST00000599806.1_Missense_Mutation_p.D737N	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	792					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGCCCGCTATGACTTCTGCGC	0.537000													5	129					0	0	1	0	0
SEPN1	57190	broad.mit.edu	37	1	26136235	26136235	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:26136235C>G	ENST00000361547.2	+	7	989	c.934C>G	c.(934-936)Cag>Gag	p.Q312E	SEPN1_ENST00000354177.4_Missense_Mutation_p.Q278E|SEPN1_ENST00000374315.1_Missense_Mutation_p.Q278E	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	312						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCCTGCTCAGTTCACCGG	0.637000													5	80					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63185416	63185416	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:63185416G>C	ENST00000449996.3	+	10	730	c.658G>C	c.(658-660)Gtt>Ctt	p.V220L	RGS9_ENST00000443584.3_Missense_Mutation_p.V220L|RGS9_ENST00000262406.9_Missense_Mutation_p.V223L	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	223	G protein gamma.				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						ACAAACAGTCGTTGCTGTCAA	0.353000													13	173					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30518129	30518129	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr16:30518129C>A	ENST00000356798.6	+	21	2640	c.2460C>A	c.(2458-2460)gaC>gaA	p.D820E	ITGAL_ENST00000358164.5_Missense_Mutation_p.D736E|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	820					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)	TCCAGCTGGACCTGCACTTCC	0.602000													35	237					1.06647e-15	1.15067e-15	1	1	0
FAM63B	54629	broad.mit.edu	37	15	59144044	59144044	+	Silent	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr15:59144044A>G	ENST00000559228.1	+	8	1699	c.1617A>G	c.(1615-1617)ggA>ggG	p.G539G	FAM63B_ENST00000450403.2_Silent_p.G539G			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	539	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TCCCGGAAGGAATCAGTGATT	0.413000													4	71					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202322	248202322	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:248202322T>A	ENST00000366479.2	+	1	849	c.753T>A	c.(751-753)taT>taA	p.Y251*	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCTTCTACTATGCACCCTTTG	0.512000													17	145					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149901793	149901793	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:149901793G>T	ENST00000439741.2	-	16	1913	c.1663C>A	c.(1663-1665)Cct>Act	p.P555T	MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.P483T|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	555	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGGGGTCCAGGAACCATGAAG	0.532000													7	82					2.0095e-06	2.13536e-06	1	1	0
MYD88	4615	broad.mit.edu	37	3	38182641	38182641	+	Nonstop_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:38182641T>C	ENST00000495303.1	+	3	483	c.478T>C	c.(478-480)Tga>Cga	p.*160R	MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000417037.2_Missense_Mutation_p.L273P|MYD88_ENST00000443433.2_Nonstop_Mutation_p.*205R|MYD88_ENST00000396334.3_Missense_Mutation_p.L265P|MYD88_ENST00000424893.1_Missense_Mutation_p.L220P	NM_001172566.1	NP_001166037.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	0	TIR.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity	p.L265P(188)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGAAGCGACTGATCCCCATC	0.552000			Mis		ABC-DLBCL								8	65					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123104941	123104941	+	Silent	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:123104941A>G	ENST00000466202.1	-	10	2280	c.1704T>C	c.(1702-1704)ttT>ttC	p.F568F	IQUB_ENST00000324698.6_Silent_p.F568F|IQUB_ENST00000434450.1_Silent_p.F568F	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	568										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TATAATGAAAAAAGAGTGTCG	0.333000													5	124					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748205	43748205	+	Silent	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr15:43748205T>C	ENST00000263801.3	-	12	2838	c.2586A>G	c.(2584-2586)tcA>tcG	p.S862S	TP53BP1_ENST00000450115.2_Silent_p.S867S|TP53BP1_ENST00000382039.3_Silent_p.S867S|TP53BP1_ENST00000382044.4_Silent_p.S867S|TP53BP1_ENST00000605155.1_5'UTR	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	862					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTCTGTTAATGAATTACTTG	0.468000								Other conserved DNA damage response genes					8	182					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173322581	173322581	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:173322581A>T	ENST00000457714.1	+	3	622	c.193A>T	c.(193-195)Att>Ttt	p.I65F	NLGN1_ENST00000361589.4_Missense_Mutation_p.I65F|NLGN1_ENST00000545397.1_Missense_Mutation_p.I65F|NLGN1_ENST00000401917.3_Missense_Mutation_p.I65F	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	65					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GATAAGAGGGATTAAGAAGGA	0.458000													6	112					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149068	73149068	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr4:73149068G>A	ENST00000286657.4	-	22	3439	c.3403C>T	c.(3403-3405)Cag>Tag	p.Q1135*		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1135					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)			CCTGCTTGCTGAGCACTCCTC	0.512000													4	98					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154147343	154147343	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:154147343T>C	ENST00000389740.2	-	1	161	c.62A>G	c.(61-63)aAt>aGt	p.N21S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	21						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTCCGTAGAATTATGATTCTC	0.373000													11	129					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055835	167055835	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:167055835C>G	ENST00000303354.6	-	27	5657	c.5317G>C	c.(5317-5319)Gaa>Caa	p.E1773Q	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.E1772Q|SCN9A_ENST00000375387.4_Missense_Mutation_p.E1773Q|SCN9A_ENST00000409672.1_Missense_Mutation_p.E1761Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1772						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTCAGAGGTTCAGTACTTTCT	0.398000													9	165					0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123687413	123687413	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:123687413C>T	ENST00000369043.3	-	1	138	c.52G>A	c.(52-54)Gag>Aag	p.E18K	ATE1_ENST00000369040.3_5'UTR|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000224652.6_Missense_Mutation_p.E18K|ATE1_ENST00000543447.1_5'UTR	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	18					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TAGAAGTCCTCGCTAGGGAAA	0.726000													3	15					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223513457	223513457	+	Splice_Site	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:223513457A>G	ENST00000281828.6	-	2	378		c.e2+1		FARSB_ENST00000536361.1_Splice_Site	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit						phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TCCAATACATACAATTTCATC	0.308000													9	120					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50326368	50326368	+	Splice_Site	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:50326368C>A	ENST00000436390.1	-	12	1383	c.886G>T	c.(886-888)Gag>Tag	p.E296*	IFRD2_ENST00000417626.2_Splice_Site_p.E296*|IFRD2_ENST00000429673.2_Splice_Site_p.E360*|IFRD2_ENST00000336089.4_Splice_Site_p.E462*			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	360							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)		ACAAACTCCTCCTGCAATGGG	0.577000													3	28					0.115264	0.115971	1	1	0
CLIP1	6249	broad.mit.edu	37	12	122862450	122862450	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:122862450G>A	ENST00000358808.2	-	3	297	c.143C>T	c.(142-144)tCt>tTt	p.S48F	CLIP1_ENST00000302528.7_Missense_Mutation_p.S48F|CLIP1_ENST00000361654.4_Missense_Mutation_p.S48F|CLIP1_ENST00000537178.1_Missense_Mutation_p.S48F|CLIP1_ENST00000540338.1_Missense_Mutation_p.S48F	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	48					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGAGTCTCAGATGATGGAGT	0.403000													13	279					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70206617	70206617	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:70206617C>G	ENST00000550536.1	+	9	1695	c.1238C>G	c.(1237-1239)tCa>tGa	p.S413*	RAB3IP_ENST00000325555.9_Nonsense_Mutation_p.S191*|RAB3IP_ENST00000551641.1_Nonsense_Mutation_p.S191*|AC025263.3_ENST00000550437.1_Nonsense_Mutation_p.S38*|RAB3IP_ENST00000553099.1_Nonsense_Mutation_p.S191*|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000362025.5_Intron|RAB3IP_ENST00000550847.1_Nonsense_Mutation_p.S104*|RAB3IP_ENST00000247833.7_Nonsense_Mutation_p.S397*	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	413					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TTAGGGGACTCAAGCAACTAT	0.323000													4	91					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10235527	10235527	+	Silent	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:10235527G>C	ENST00000418404.3	-	19	2350	c.2187C>G	c.(2185-2187)ctC>ctG	p.L729L	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.L729L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	729	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						CACTGGCATTGAGGATCCGGT	0.507000													7	87					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133946	119133946	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:119133946T>G	ENST00000264245.4	+	12	3702	c.3170T>G	c.(3169-3171)aTt>aGt	p.I1057S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1057					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGTCCACAGATTAGGCAAGGT	0.592000													12	200					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101271436	101271436	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr8:101271436G>C	ENST00000519449.1	-	11	2181	c.1865C>G	c.(1864-1866)tCa>tGa	p.S622*	RNF19A_ENST00000341084.2_Nonsense_Mutation_p.S622*|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	622					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GGATGGCTTTGACTCAATATC	0.443000											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	140					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35913902	35913902	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:35913902G>C	ENST00000325722.3	-	16	2619	c.2385C>G	c.(2383-2385)atC>atG	p.I795M	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.I232M	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	795						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)				TGATATCCAAGATGATCTCCA	0.502000													6	99					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59175901	59175901	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr15:59175901G>C	ENST00000380516.2	-	20	3007	c.2920C>G	c.(2920-2922)Caa>Gaa	p.Q974E	SLTM_ENST00000536328.1_Missense_Mutation_p.Q543E	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	974					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						CTAGGCCCTTGAGAGGGTGGA	0.507000													13	128					0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249211412	249211412	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:249211412A>G	ENST00000539153.1	+	4	875	c.620A>G	c.(619-621)cAt>cGt	p.H207R	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.H210R|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	210										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCACATCATCATCTTGTGGCT	0.398000													15	145					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8862693	8862693	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr16:8862693A>G	ENST00000396600.2	+	11	1617	c.679A>G	c.(679-681)Acc>Gcc	p.T227A	ABAT_ENST00000268251.8_Missense_Mutation_p.T227A|ABAT_ENST00000567812.1_Missense_Mutation_p.T242A|ABAT_ENST00000425191.2_Missense_Mutation_p.T227A|ABAT_ENST00000569156.1_Missense_Mutation_p.T227A	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	227					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TTGCTTAGCGACCACGCACTC	0.502000													9	317					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25232375	25232375	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:25232375G>A	ENST00000354454.3	+	7	944	c.115G>A	c.(115-117)Gac>Aac	p.D39N	LRMP_ENST00000547044.1_Missense_Mutation_p.D39N|LRMP_ENST00000548766.1_Missense_Mutation_p.D39N	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	95					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TTCATCGACAGACGGTACTAT	0.383000													18	129					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294852	5294852	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr20:5294852A>G	ENST00000546004.1	-	2	410	c.164T>C	c.(163-165)gTc>gCc	p.V55A	PROKR2_ENST00000217270.3_Missense_Mutation_p.V55A			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	55						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AATGCCAATGACGATCTTGGC	0.517000										HNSCC(71;0.22)			7	75					0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5009123	5009123	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:5009123T>A	ENST00000250076.3	-	5	1985	c.1331A>T	c.(1330-1332)cAt>cTt	p.H444L	ZNF232_ENST00000575898.1_Missense_Mutation_p.H435L	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	417					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TTCAATTCAATGGGAAGGCTC	0.403000													5	137					0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13251182	13251182	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr20:13251182C>T	ENST00000262487.4	+	2	176	c.170C>T	c.(169-171)tCa>tTa	p.S57L	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor							extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GACACCACATCAGAAACCAGC	0.473000													5	20					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466257	56466257	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:56466257C>A	ENST00000291971.3	+	3	904	c.833C>A	c.(832-834)cCc>cAc	p.P278H	NLRP8_ENST00000590542.1_Missense_Mutation_p.P278H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	278	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ATGTCCAAACCCGACCAACTT	0.517000													9	217					0.0135373	0.0137044	1	1	0
GJA1	2697	broad.mit.edu	37	6	121769060	121769060	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:121769060T>G	ENST00000282561.3	+	2	1224	c.1067T>G	c.(1066-1068)cTa>cGa	p.L356R		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	356					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TTACAGCCACTAGCCATTGTG	0.507000													6	74					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8620604	8620604	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:8620604T>G	ENST00000338257.8	-	2	347	c.80A>C	c.(79-81)cAg>cCg	p.Q27P		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	27	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TTCGGTGATCTGGGGAAGAAG	0.642000													4	69					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43576076	43576076	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:43576076G>C	ENST00000406487.1	-	4	838	c.740C>G	c.(739-741)tCa>tGa	p.S247*		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	247	Ig-like C2-type 2.				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)				ATTGGTGTATGAAGGGTGAAT	0.483000													4	228					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11984690	11984690	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:11984690C>T	ENST00000356352.2	-	17	3825	c.3352G>A	c.(3352-3354)Gat>Aat	p.D1118N	UPF2_ENST00000397053.2_Missense_Mutation_p.D1118N|UPF2_ENST00000357604.5_Missense_Mutation_p.D1118N			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1118	Interaction with UPF1.|Necessary for interaction with UPF1.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATCATTTTATCCAGAGCTTGA	0.348000													4	82					0	0	1	0	0
ANAPC16	119504	broad.mit.edu	37	10	73992847	73992847	+	Silent	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:73992847G>T	ENST00000299381.4	+	4	424	c.306G>T	c.(304-306)ctG>ctT	p.L102L	ANAPC16_ENST00000470481.2_3'UTR	NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3	NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1	Q96DE5	APC16_HUMAN	anaphase promoting complex subunit 16	102					cell division|mitosis|protein ubiquitination	anaphase-promoting complex|cytoplasm				large_intestine(1)|ovary(1)	2						TCGAGCAGCTGCTGGGATTCA	0.537000													4	51					0.00909568	0.00922696	1	1	0
SLC35A4	113829	broad.mit.edu	37	5	139947713	139947713	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:139947713A>G	ENST00000514199.1	+	2	2645	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.Y320C			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	320						Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGCCTGTACTATGGCAGC	0.627000													4	46					0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59857824	59857824	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:59857824A>G	ENST00000278888.3	+	3	304	c.202A>G	c.(202-204)Act>Gct	p.T68A		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	68					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	ACAAATTCTGACTGCTATGAT	0.313000													12	185					0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61254054	61254054	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:61254054G>A	ENST00000338608.2	+	9	931	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	PPP1R32_ENST00000432063.2_Missense_Mutation_p.R249Q	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	269																	GCCTTCAGCCGAGGGAATGAA	0.577000													4	41					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123220471	123220471	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chrX:123220471C>T	ENST00000371160.1	+	30	3418	c.3128C>T	c.(3127-3129)tCt>tTt	p.S1043F	STAG2_ENST00000354548.5_Missense_Mutation_p.S974F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.S1043F|STAG2_ENST00000371145.3_Missense_Mutation_p.S1043F|STAG2_ENST00000371144.3_Missense_Mutation_p.S1043F|STAG2_ENST00000218089.9_Missense_Mutation_p.S1043F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1043					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCACTGATGTCTTACCGAAAT	0.428000													6	40					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061280	9061280	+	Silent	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:9061280T>G	ENST00000397910.4	-	3	26369	c.26166A>C	c.(26164-26166)gcA>gcC	p.A8722A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8724	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						TTCTCTCTGTTGCTGAGCTGG	0.507000													6	73					0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39812837	39812837	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr22:39812837C>T	ENST00000216160.6	+	4	428	c.366C>T	c.(364-366)gaC>gaT	p.D122D	TAB1_ENST00000331454.3_Silent_p.D122D	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	122	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						AGTCCATTGACGACGCCTTGG	0.582000													8	75					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51824752	51824752	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:51824752C>T	ENST00000371117.3	-	36	6099	c.5824G>A	c.(5824-5826)Gat>Aat	p.D1942N	PKHD1_ENST00000340994.4_Missense_Mutation_p.D1942N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1942	G8 1.		D -> G (in ARPKD).		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)					TTGTCGCCATCTTGTGGCAGC	0.493000											OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	159					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053438	17053438	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:17053438A>G	ENST00000418129.2	+	2	2687	c.2222A>G	c.(2221-2223)gAg>gGg	p.E741G	PLCL2_ENST00000432376.1_Missense_Mutation_p.E741G|PLCL2_ENST00000396755.2_Missense_Mutation_p.E741G	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	867	C2.				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						TTAACTGGAGAGGTCCTTGCA	0.483000													14	130					0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11977056	11977056	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:11977056A>G	ENST00000304030.2	+	1	285	c.85A>G	c.(85-87)Acc>Gcc	p.T29A	ZNF439_ENST00000455282.1_Intron|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TGTGAACTTCACCCAGGAGGA	0.493000													9	232					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26918138	26918138	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr14:26918138C>T	ENST00000539517.2	-	5	868	c.551G>A	c.(550-552)gGt>gAt	p.G184D	NOVA1_ENST00000465357.2_Missense_Mutation_p.G160D|NOVA1_ENST00000267422.7_Missense_Mutation_p.G62D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	187	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TATTATCAGACCTGCTGTGCT	0.393000													8	144					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104171829	104171829	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr9:104171829G>A	ENST00000374861.3	+	3	2021	c.1737G>A	c.(1735-1737)gtG>gtA	p.V579V	ZNF189_ENST00000339664.2_Silent_p.V593V|ZNF189_ENST00000259395.4_Silent_p.V551V	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	593					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				ATGCAGAGGTGAAAACCCAAG	0.428000													5	76					0	0	1	0	0
RDH10	157506	broad.mit.edu	37	8	74231402	74231402	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr8:74231402G>A	ENST00000240285.5	+	3	1275	c.597G>A	c.(595-597)ttG>ttA	p.L199L	RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Silent_p.L34L	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	199					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			CAAGTTCCTTGGGATTGTTCA	0.398000													8	189					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74580640	74580640	+	Splice_Site	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr18:74580640G>C	ENST00000253159.8	+	4	555		c.e4-1		ZNF236_ENST00000583095.1_Splice_Site|ZNF236_ENST00000320610.9_Splice_Site	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236						cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTCTCTTCCAGAATCTCATCT	0.488000													17	161					0	0	1	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454713	6454713	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:6454713C>T	ENST00000301454.4	-	5	605	c.499G>A	c.(499-501)Gag>Aag	p.E167K	SLC25A23_ENST00000334510.5_Missense_Mutation_p.E167K	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	167					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GTCAGGCACTCGCCAATGTCC	0.577000													5	118					0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44512948	44512948	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:44512948G>C	ENST00000429154.2	+	3	250	c.22G>C	c.(22-24)Gtg>Ctg	p.V8L	ZNF230_ENST00000585632.1_Missense_Mutation_p.V8L	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	8	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				ATAGGAGGCAGTGACCTTCAA	0.522000													6	212					0	0	1	0	0
MRPL39	54148	broad.mit.edu	37	21	26965191	26965191	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr21:26965191T>G	ENST00000307301.7	-	8	895	c.854A>C	c.(853-855)aAt>aCt	p.N285T	MRPL39_ENST00000352957.4_Missense_Mutation_p.N285T	NM_080794.3	NP_542984	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	285						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						GGGTTGAAGATTGTGAACTGC	0.398000													4	119					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39903608	39903608	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:39903608G>C	ENST00000564288.1	+	71	18925	c.18148G>C	c.(18148-18150)Gag>Cag	p.E6050Q	MACF1_ENST00000317713.7_Missense_Mutation_p.E3991Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E3861Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E3991Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E5949Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E4493Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E3991Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E6087Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6062					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)			GCCATCCTTTGAGGCCTTGAA	0.478000													4	106					0	0	1	0	0
ZNF514	84874	broad.mit.edu	37	2	95815034	95815034	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:95815034G>T	ENST00000295208.2	-	5	1658	c.1196C>A	c.(1195-1197)aCc>aAc	p.T399N	MRPS5_ENST00000475040.1_5'UTR|ZNF514_ENST00000411425.1_Missense_Mutation_p.T399N	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						AATTTATAGGGTTTTTTTTCC	0.398000													13	138					9.31168e-06	9.87359e-06	1	1	0
TRIOBP	11078	broad.mit.edu	37	22	38130999	38130999	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr22:38130999G>C	ENST00000406386.3	+	9	4911	c.4656G>C	c.(4654-4656)gaG>gaC	p.E1552D		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1552					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GTGGCTCTGAGAGGCGACCCG	0.687000											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	81					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708311	43708311	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:43708311G>A	ENST00000405312.3	-	2	394	c.157C>T	c.(157-159)Cta>Tta	p.L53L	PSG4_ENST00000433626.2_Silent_p.L53L|PSG4_ENST00000244295.9_Silent_p.L53L	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	53	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)				TGGACAAGTAGAAGAACATCC	0.458000													14	169					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36570055	36570055	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:36570055A>T	ENST00000431169.1	-	19	1791	c.1491T>A	c.(1489-1491)aaT>aaA	p.N497K	AOAH_ENST00000535891.1_Missense_Mutation_p.N465K|AOAH_ENST00000258749.5_Missense_Mutation_p.N497K|AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000538464.1_Missense_Mutation_p.N219K	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	497					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TGTAGAAAAGATTGAAGTTTG	0.408000													8	64					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90004276	90004276	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:90004276C>G	ENST00000428670.3	-	14	2713	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	ATP2B1_ENST00000393164.2_Missense_Mutation_p.E496Q|ATP2B1_ENST00000348959.3_Missense_Mutation_p.E753Q|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E753Q|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E753Q			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	753					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TCTATCCTCTCTTGCTCAATC	0.338000													24	154					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70267647	70267647	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:70267647G>A	ENST00000301843.8	+	11	1068	c.862G>A	c.(862-864)Gat>Aat	p.D288N	CTTN_ENST00000538675.1_Intron|CTTN_ENST00000346329.3_Intron|CTTN_ENST00000376561.3_Intron	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	288						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGTGGGGTTTGATTACAAGGA	0.562000													18	257					0	0	1	0	0
ZNF529	57711	broad.mit.edu	37	19	37037819	37037819	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:37037819C>T	ENST00000334116.7	-	6	1936	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	ZNF529_ENST00000591340.1_Silent_p.G547G	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					AAGTAAGATGCCCAACAACAC	0.348000													5	69					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145060236	145060236	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr8:145060236G>A	ENST00000313028.7	-	2	262	c.168C>T	c.(166-168)ttC>ttT	p.F56F	PARP10_ENST00000525773.1_Silent_p.F68F|PARP10_ENST00000524918.1_Silent_p.F56F|PARP10_ENST00000533665.1_Intron	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	56						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGCTCTCTGAAGGTGAGGA	0.632000													8	53					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51705249	51705249	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr8:51705249T>A	ENST00000522124.1	+	19	2075	c.1414T>A	c.(1414-1416)Tta>Ata	p.L472I	SNTG1_ENST00000276467.5_Missense_Mutation_p.L435I|SNTG1_ENST00000517473.1_Missense_Mutation_p.L435I|SNTG1_ENST00000518864.1_Missense_Mutation_p.L472I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	472					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)				ATTTTCTAATTTATTTGCTGT	0.333000													11	170					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64422033	64422033	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:64422033G>C	ENST00000262043.3	+	16	4889	c.4549G>C	c.(4549-4551)Gat>Cat	p.D1517H	PHF3_ENST00000393387.1_Missense_Mutation_p.D1517H			Q92576	PHF3_HUMAN	PHD finger protein 3	1517					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GGAAGTAACTGATGGTGAAAA	0.343000													5	71					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128086083	128086083	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr9:128086083C>T	ENST00000470056.1	+	9	1899	c.1739C>T	c.(1738-1740)tCa>tTa	p.S580L	GAPVD1_ENST00000394105.2_Missense_Mutation_p.S580L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.S559L|GAPVD1_ENST00000495955.1_Missense_Mutation_p.S580L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.S580L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.S580L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.S580L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.S559L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	580					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTAGGTCCTTCAAATCGCTCC	0.418000													5	65					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48824972	48824972	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr8:48824972G>C	ENST00000314191.2	-	25	2988	c.2932C>G	c.(2932-2934)Cag>Gag	p.Q978E	PRKDC_ENST00000338368.3_Missense_Mutation_p.Q978E|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	978					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCCCTTACCTGATCAACATCA	0.473000								Non-homologous end-joining					5	163					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725254	106725254	+	RNA	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr14:106725254G>A	ENST00000390609.2	-	0	376																											TTCATTTGCAGATACAGCGTG	0.522000													7	658					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88577665	88577665	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr4:88577665C>T	ENST00000339673.6	+	2	120	c.21C>T	c.(19-21)ctC>ctT	p.L7L	DMP1_ENST00000282479.7_Silent_p.L7L|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	7					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GCATCCTGCTCATGTTCCTTT	0.388000													6	122					0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196118708	196118708	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:196118708C>G	ENST00000296328.4	-	5	518	c.444G>C	c.(442-444)ttG>ttC	p.L148F	UBXN7_ENST00000428095.1_Intron|UBXN7_ENST00000535858.1_5'UTR	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	148							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTTTATGCATCAAATCAATGG	0.358000													7	93					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111413387	111413387	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:111413387G>C	ENST00000535254.1	-	15	1812	c.1745C>G	c.(1744-1746)tCt>tGt	p.S582C	BUB1_ENST00000409311.1_Missense_Mutation_p.S602C|BUB1_ENST00000302759.6_Missense_Mutation_p.S602C	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	602					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTGTGCAGCAGATGTGAAGTC	0.473000													17	214					0	0	1	0	0
TAS2R50	259296	broad.mit.edu	37	12	11139049	11139049	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:11139049C>T	ENST00000506868.1	-	1	462	c.411G>A	c.(409-411)ttG>ttA	p.L137L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	137					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						CCAAAAATATCAAAGTCCCCA	0.368000													27	251					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9459667	9459667	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:9459667C>G	ENST00000379719.3	+	22	2672	c.2530C>G	c.(2530-2532)Ctt>Gtt	p.L844V		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	844					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACTCTGTGCTCTTATTGATAT	0.313000													9	192					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104170832	104170832	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr9:104170832A>G	ENST00000374861.3	+	3	1024	c.740A>G	c.(739-741)aAa>aGa	p.K247R	ZNF189_ENST00000339664.2_Missense_Mutation_p.K261R|ZNF189_ENST00000259395.4_Missense_Mutation_p.K219R	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	261					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAACCCCATAAATGTAGTGAC	0.418000													18	254					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9052078	9052078	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:9052078G>A	ENST00000382496.5	-	20	3417	c.2752C>T	c.(2752-2754)Cgc>Tgc	p.R918C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	918	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATGCACTGGCGGGCGCGGACT	0.612000													3	41					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177605138	177605138	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr4:177605138T>C	ENST00000280193.2	-	7	1617	c.1202A>G	c.(1201-1203)tAt>tGt	p.Y401C	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	401					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTCTTCACTATATGAAAATCC	0.413000													4	124					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179441726	179441726	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:179441726G>A	ENST00000589042.1	-	324	69560	c.69336C>T	c.(69334-69336)ttC>ttT	p.F23112F	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.F20544F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.F14239F|TTN_ENST00000591111.1_Silent_p.F21471F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.F14172F|TTN_ENST00000460472.2_Silent_p.F14047F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21471	Ig-like 118.						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)			CTGAGACCCGGAAGATGTACT	0.443000													15	272					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39084853	39084853	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:39084853C>G	ENST00000209718.3	-	5	1067	c.643G>C	c.(643-645)Gag>Cag	p.E215Q	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.E78Q	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	215	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TGATGCTTCTCCATTTCCTAT	0.408000													6	145					0	0	1	0	0
VCX	26609	broad.mit.edu	37	X	7811698	7811698	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chrX:7811698G>A	ENST00000381059.3	+	3	481	c.262G>A	c.(262-264)Gag>Aag	p.E88K	VCX_ENST00000341408.4_Missense_Mutation_p.E88K	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	88	Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CCCTCAGCACGAGCTGCCGCC	0.711000													7	45					0	0	1	0	0
RSG1	79363	broad.mit.edu	37	1	16559112	16559112	+	Silent	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:16559112G>C	ENST00000375599.3	-	4	839	c.420C>G	c.(418-420)ctC>ctG	p.L140L		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	140	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						AGAAGAGGAAGAGGAAGGCAT	0.562000													3	47					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	170007446	170007446	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:170007446C>T	ENST00000367765.1	-	5	1883	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	KIFAP3_ENST00000361580.2_Missense_Mutation_p.E168K|KIFAP3_ENST00000538366.1_Missense_Mutation_p.E90K|KIFAP3_ENST00000367767.1_Missense_Mutation_p.E124K|KIFAP3_ENST00000490550.1_5'UTR	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	168					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATAGTAGTTCTTCCAAGTTA	0.303000													12	107					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60581493	60581493	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr14:60581493G>A	ENST00000406854.1	+	3	1319	c.765G>A	c.(763-765)ctG>ctA	p.L255L	PCNXL4_ENST00000404681.2_Silent_p.L255L|PCNXL4_ENST00000406949.1_Silent_p.L21L|PCNXL4_ENST00000317623.4_Silent_p.L21L					pecanex-like 4 (Drosophila)																		TACCCTTTCTGTGGGCACTTG	0.418000													20	98					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100645223	100645223	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:100645223A>G	ENST00000471714.1	-	2	312	c.203T>C	c.(202-204)cTg>cCg	p.L68P	ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000284322.5_Missense_Mutation_p.L68P|ABI3BP_ENST00000495063.1_Missense_Mutation_p.L68P			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	68						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCCATATCCCAGGAGAAGACC	0.458000													4	67					0	0	1	0	0
TIMM50	92609	broad.mit.edu	37	19	39972525	39972525	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:39972525C>T	ENST00000314349.4	+	2	553	c.420C>T	c.(418-420)gcC>gcT	p.A140A	TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000607714.1_Silent_p.A37A	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	37					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AACCGCAGGCCGCAGAGATCG	0.607000													5	78					0	0	1	0	0
POMK	84197	broad.mit.edu	37	8	42977441	42977441	+	Silent	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr8:42977441T>C	ENST00000331373.5	+	5	729	c.474T>C	c.(472-474)agT>agC	p.S158S		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1			protein-O-mannose kinase	158																	GTTCCTTGAGTAACCTGGAAG	0.453000													4	65					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31711653	31711653	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr13:31711653G>A	ENST00000320027.5	-	18	2723	c.2379C>T	c.(2377-2379)aaC>aaT	p.N793N	HSPH1_ENST00000445273.2_Silent_p.N795N|HSPH1_ENST00000429785.2_Silent_p.N612N|HSPH1_ENST00000380405.4_Silent_p.N749N|HSPH1_ENST00000380406.5_Silent_p.N752N	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	793					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CACATGTGTTGTTCAATTCCT	0.358000													4	77					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26918094	26918094	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr14:26918094C>G	ENST00000539517.2	-	5	912	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	NOVA1_ENST00000465357.2_Missense_Mutation_p.E175Q|NOVA1_ENST00000267422.7_Missense_Mutation_p.E77Q	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	202	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CCTGACTGCTCCATTACAGCC	0.448000													5	128					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111955378	111955378	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr13:111955378G>C	ENST00000218789.5	+	21	2533	c.2036G>C	c.(2035-2037)aGa>aCa	p.R679T	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.R705T|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.R620T|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R695T|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.R620T			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	452					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GAAGAACAGAGAGCCCGCAAA	0.458000													3	53					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723958	7723958	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:7723958G>C	ENST00000303635.7	+	9	1558	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E451Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGGCAGCTCGGAGAGCCTGTC	0.622000			T	WWTR1	epitheliod hemangioendothelioma								4	77					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163130334	163130334	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:163130334G>A	ENST00000263642.2	-	12	2820	c.2425C>T	c.(2425-2427)Ctc>Ttc	p.L809F		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	809	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTGGTGACGAGACCATAACGG	0.338000													5	101					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14364830	14364830	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:14364830G>A	ENST00000344204.4	+	15	2683	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K	TRIO_ENST00000537187.1_Missense_Mutation_p.E887K|TRIO_ENST00000509967.2_Missense_Mutation_p.E838K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	887					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTTTCTTCATGAAAAACAGCA	0.527000											OREG0016458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	106					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19701569	19701569	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr21:19701569A>T	ENST00000284885.3	-	15	1730	c.1697T>A	c.(1696-1698)cTt>cAt	p.L566H		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	566	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGAAAATGAAGTTGTATATT	0.308000													5	53					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627570	43627570	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr9:43627570C>T	ENST00000332857.6	-	4	1145	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GTGTCCTGCTCAGCATCCAAT	0.443000													18	297					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203383646	203383646	+	Silent	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:203383646C>A	ENST00000374580.4	+	6	1262	c.723C>A	c.(721-723)atC>atA	p.I241I	BMPR2_ENST00000374574.2_Silent_p.I241I	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	241	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGAATTTTATCAACGAAAAGA	0.433000													4	139					0.014758	0.0149095	1	1	0
ING3	54556	broad.mit.edu	37	7	120607594	120607594	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:120607594A>T	ENST00000315870.5	+	7	596	c.448A>T	c.(448-450)Aat>Tat	p.N150Y	ING3_ENST00000431467.1_Missense_Mutation_p.N135Y	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	150					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					AAGGAAATATAATCCAACTTC	0.303000													9	106					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41323771	41323771	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:41323771A>T	ENST00000551295.2	+	7	787	c.670A>T	c.(670-672)Agc>Tgc	p.S224C	CNTN1_ENST00000547849.1_Missense_Mutation_p.S224C|CNTN1_ENST00000360099.3_Missense_Mutation_p.S224C|CNTN1_ENST00000348761.2_Missense_Mutation_p.S213C|CNTN1_ENST00000547702.1_Missense_Mutation_p.S224C|CNTN1_ENST00000347616.1_Missense_Mutation_p.S224C	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	224					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)				GAGCGTGTTCAGCAAATTCAT	0.378000													6	245					0	0	1	0	0
SNRNP70	6625	broad.mit.edu	37	19	49604707	49604707	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:49604707G>T	ENST00000221448.5	+	7	650	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	SNRNP70_ENST00000598441.1_Nonsense_Mutation_p.E152*	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	152	RRM.				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CATCGAGTACGAACACGAGCG	0.612000													4	56					0.150653	0.15096	1	1	0
OR2H1	26716	broad.mit.edu	37	6	29430094	29430094	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:29430094T>A	ENST00000377136.1	+	4	1013	c.548T>A	c.(547-549)aTt>aAt	p.I183N	OR2H1_ENST00000442615.1_Missense_Mutation_p.I183N|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377132.1_Missense_Mutation_p.I183N|OR2H1_ENST00000396792.2_Missense_Mutation_p.I183N|OR2H1_ENST00000377133.1_Missense_Mutation_p.I183N			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CCATCTCTGATTCGACTCTCC	0.498000													8	198					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83851730	83851730	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:83851730G>A	ENST00000349129.2	+	24	5766	c.5506G>A	c.(5506-5508)Gaa>Aaa	p.E1836K	DOPEY1_ENST00000237163.5_Missense_Mutation_p.E1817K|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E1827K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1836					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGTGTGGAATGAAAGAAGACA	0.368000													12	220					0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59860886	59860886	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:59860886T>C	ENST00000278888.3	+	5	494	c.392T>C	c.(391-393)cTg>cCg	p.L131P		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	131					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AGAGGAAGCCTGGGAGCAAAC	0.493000													5	105					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5416076	5416076	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr18:5416076T>C	ENST00000341928.2	-	13	2148	c.1808A>G	c.(1807-1809)gAt>gGt	p.D603G	EPB41L3_ENST00000342933.3_Missense_Mutation_p.D603G|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	603	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GAGGTATCCATCATCATCTAG	0.547000													5	79					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140255359	140255359	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr4:140255359G>A	ENST00000296543.5	+	2	409	c.86G>A	c.(85-87)gGa>gAa	p.G29E	NAA15_ENST00000398947.1_Missense_Mutation_p.G29E	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	29					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TATAGAAATGGATTGAAATTC	0.318000													7	111					0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62338505	62338505	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:62338505G>C	ENST00000378019.3	-	5	694	c.604C>G	c.(604-606)Ctg>Gtg	p.L202V	EEF1G_ENST00000329251.4_Missense_Mutation_p.L152V|EEF1G_ENST00000532986.1_5'UTR|MIR3654_ENST00000496634.2_3'UTR			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	152	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCGCCCACCAGAAAAGTCCTC	0.478000													5	137					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124141359	124141359	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr8:124141359A>T	ENST00000378080.2	+	14	2055	c.1852A>T	c.(1852-1854)Aag>Tag	p.K618*	TBC1D31_ENST00000522420.1_Missense_Mutation_p.E619V|TBC1D31_ENST00000327098.5_Missense_Mutation_p.E724V|TBC1D31_ENST00000309336.3_Missense_Mutation_p.E724V|TBC1D31_ENST00000521676.1_Missense_Mutation_p.E601V|TBC1D31_ENST00000287380.1_Missense_Mutation_p.E724V|TBC1D31_ENST00000518805.1_Missense_Mutation_p.E278V					TBC1 domain family, member 31																		GTTGAAGATGAAGCTTGGTAC	0.383000													6	93					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58978247	58978247	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:58978247G>A	ENST00000361050.3	-	1	2177	c.2092C>T	c.(2092-2094)Cca>Tca	p.P698S		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	698						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GCAGTGCCTGGAACCAAACTC	0.507000													8	108					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310962	178310962	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:178310962C>G	ENST00000322434.3	+	5	1735	c.1509C>G	c.(1507-1509)ttC>ttG	p.F503L	ZNF354B_ENST00000522714.1_3'UTR	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAAAACATTCAGGTGTAACT	0.413000													5	119					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1513857	1513857	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:1513857C>T	ENST00000389470.4	-	42	6387	c.6388G>A	c.(6388-6390)Gag>Aag	p.E2130K	INTS1_ENST00000404767.3_Missense_Mutation_p.E1926K			Q8N201	INT1_HUMAN	integrator complex subunit 1	1926					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCCTGGTGCTCGCTGCGGAAC	0.677000											OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	28					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161600164	161600164	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:161600164G>A	ENST00000294800.3	-	2	328	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	FCGR3B_ENST00000367964.2_Missense_Mutation_p.R19W|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Missense_Mutation_p.R19W|FCGR3B_ENST00000531221.1_Missense_Mutation_p.R55W	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	19					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCACCAGTCCGCATGCCAGCT	0.438000													4	45					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407523	1407523	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chrX:1407523T>C	ENST00000381524.3	+	5	517	c.331T>C	c.(331-333)Tat>Cat	p.Y111H	CSF2RA_ENST00000355432.3_Missense_Mutation_p.Y111H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Y111H|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Y111H|CSF2RA_ENST00000355805.2_Missense_Mutation_p.Y111H|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.Y111H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Y111H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Y111H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.Y111H			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	111						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	GAAACTGCTTTATCCAAATTC	0.463000													24	318					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77094309	77094309	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:77094309G>A	ENST00000328299.3	+	5	884	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	246					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ttctAGGACAGAAGGGTATAG	0.358000													3	28					0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8633504	8633504	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:8633504G>A	ENST00000293845.3	-	7	1121	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	CCDC42_ENST00000539522.2_Missense_Mutation_p.R225W	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	299										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						ATGTCCGACCGGTCTTGGATA	0.537000													3	55					0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13639909	13639909	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:13639909G>C	ENST00000011619.3	-	9	1469	c.1411C>G	c.(1411-1413)Caa>Gaa	p.Q471E	RANBP9_ENST00000539980.1_Missense_Mutation_p.Q242E	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	471					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TAACTGTCTTGAGACTTTGGA	0.418000													21	73					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43535728	43535728	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:43535728G>A	ENST00000430334.3	-	6	1519	c.1386C>T	c.(1384-1386)caC>caT	p.H462H	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.H373H	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	462					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					AAGCTATTGGGTGGTCTGAAG	0.527000													4	69					0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160914931	160914931	+	Nonstop_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:160914931C>G	ENST00000368029.3	-	8	1034	c.977G>C	c.(976-978)tGa>tCa	p.*326S	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	0					signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCTCTGTCTCATCTATAGAA	0.517000													8	72					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237794836	237794836	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:237794836T>A	ENST00000366574.2	+	42	6867	c.6550T>A	c.(6550-6552)Tcc>Acc	p.S2184T	RYR2_ENST00000360064.6_Missense_Mutation_p.S2182T|RYR2_ENST00000542537.1_Missense_Mutation_p.S2168T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2184	4 X approximate repeats.				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)			AGGTGGAGAGTCCAAGGTAAC	0.393000													3	24					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20079084	20079084	+	Missense_Mutation	SNP	C	C	A	rs149336675		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr22:20079084C>A	ENST00000351989.3	+	6	1862	c.1433C>A	c.(1432-1434)tCc>tAc	p.S478Y	DGCR8_ENST00000407755.1_Missense_Mutation_p.S478Y|DGCR8_ENST00000383024.2_Missense_Mutation_p.S478Y	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	478	Necessary for heme-binding and pri-miRNA processing.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CAGGCGGAGTCCGAGAGGCCC	0.473000													15	277					5.35267e-07	5.7375e-07	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31324049	31324049	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr18:31324049G>A	ENST00000269197.5	+	12	4237	c.4237G>A	c.(4237-4239)Gtc>Atc	p.V1413I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACACCCGACCGTCGCAATGTT	0.488000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	190					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89462396	89462396	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:89462396T>C	ENST00000336596.2	+	10	2093	c.1868T>C	c.(1867-1869)aTt>aCt	p.I623T	EPHA3_ENST00000494014.1_Missense_Mutation_p.I623T	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	623	Protein kinase.					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)		AACATATCCATTGATAAAGTT	0.433000										TSP Lung(6;0.00050)			10	180					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57865120	57865120	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:57865120G>A	ENST00000391705.3	+	3	345	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	ZNF304_ENST00000443917.2_Missense_Mutation_p.V21M|ZNF304_ENST00000598744.1_5'UTR|ZNF304_ENST00000282286.5_Missense_Mutation_p.V21M	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGATGTGTTCGTGTACTTCTC	0.532000													4	74					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37687083	37687083	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:37687083C>T	ENST00000447079.4	+	14	4020	c.3987C>T	c.(3985-3987)tcC>tcT	p.S1329S	CDK12_ENST00000430627.2_Silent_p.S1320S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1329					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGGAGTACTCCACCCGACCCC	0.557000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			7	92					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31133898	31133898	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:31133898C>G	ENST00000452305.1	-	9	3012	c.2449G>C	c.(2449-2451)Gag>Cag	p.E817Q	ZNF438_ENST00000442986.1_Missense_Mutation_p.E827Q|ZNF438_ENST00000331737.6_Missense_Mutation_p.E817Q|ZNF438_ENST00000538351.2_Missense_Mutation_p.E778Q|ZNF438_ENST00000413025.1_Missense_Mutation_p.E827Q|ZNF438_ENST00000361310.3_Missense_Mutation_p.E827Q|ZNF438_ENST00000375311.1_Missense_Mutation_p.E391Q|ZNF438_ENST00000436087.2_Missense_Mutation_p.E827Q|ZNF438_ENST00000444692.2_Missense_Mutation_p.E817Q	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	827					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E827K(1)|p.E827Q(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCTCATTTCTCAGCTTCACTG	0.512000													9	190					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552080	100552080	+	Silent	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:100552080C>G	ENST00000319509.7	+	1	831	c.831C>G	c.(829-831)tcC>tcG	p.S277S						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ATGTGGGCTCCGCTTCTATCA	0.473000													10	440					0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193117044	193117044	+	Silent	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:193117044A>G	ENST00000367435.3	+	8	961	c.777A>G	c.(775-777)agA>agG	p.R259R		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	259					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TAAAAGCCAGAGAAGAAGGGC	0.353000													3	37					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155458386	155458386	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:155458386T>A	ENST00000461783.3	+	7	2543	c.1270T>A	c.(1270-1272)Tcc>Acc	p.S424T	TIAM2_ENST00000456144.1_Missense_Mutation_p.S424T|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.S424T|TIAM2_ENST00000529824.2_Missense_Mutation_p.S424T|TIAM2_ENST00000360366.4_Missense_Mutation_p.S424T			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	424					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCAGGGATCCTCCCAGGCATC	0.542000													6	91					0	0	1	0	0
HEY1	23462	broad.mit.edu	37	8	80679518	80679518	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr8:80679518G>A	ENST00000337919.5	-	2	294	c.101C>T	c.(100-102)tCg>tTg	p.S34L	HEY1_ENST00000354724.3_Missense_Mutation_p.S34L	NM_001040708.1	NP_001035798.1	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	34					angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			ACCTAGAGCCGAACTCAAGTT	0.453000			T	NCOA2	mesenchymal chondrosarcoma								14	211					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20200324	20200324	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:20200324C>T	ENST00000395530.2	+	11	2956	c.2748C>T	c.(2746-2748)ttC>ttT	p.F916F	AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Silent_p.F997F|SPECC1_ENST00000261503.5_Silent_p.F997F|SPECC1_ENST00000536879.1_Silent_p.F337F	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	997						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GCCTGGCCTTCTGTGCTCTGC	0.498000													5	39					0	0	1	0	0
RNF167	26001	broad.mit.edu	37	17	4848226	4848226	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:4848226C>A	ENST00000262482.6	+	10	1624	c.968C>A	c.(967-969)tCc>tAc	p.S323Y	RNF167_ENST00000575111.1_Missense_Mutation_p.S323Y|RNF167_ENST00000571816.1_Missense_Mutation_p.S323Y|RNF167_ENST00000572430.1_Missense_Mutation_p.S323Y|RNF167_ENST00000576229.1_Missense_Mutation_p.S288Y	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	323					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						TCCTTTGGTTCCTTAGCCCCA	0.577000													9	174					1.58986e-06	1.6931e-06	1	1	0
ZNF638	27332	broad.mit.edu	37	2	71592810	71592810	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:71592810G>A	ENST00000409544.1	+	6	2599	c.1969G>A	c.(1969-1971)Gat>Aat	p.D657N	ZNF638_ENST00000264447.4_Missense_Mutation_p.D657N|ZNF638_ENST00000355812.3_Missense_Mutation_p.D657N|ZNF638_ENST00000377802.2_Missense_Mutation_p.D657N|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	657					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACAGGTGTCTGATAAAGCTGT	0.368000													6	56					0	0	1	0	0
LOC283683	283683	broad.mit.edu	37	15	23108867	23108867	+	RNA	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr15:23108867A>G	ENST00000557922.1	-	0	262					NR_040057.1																						TCTTTGTTCCACTTGGTTCGA	0.403000													4	69					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136396651	136396651	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:136396651G>T	ENST00000264160.4	+	14	1548	c.1178G>T	c.(1177-1179)aGt>aTt	p.S393I	R3HDM1_ENST00000409478.1_Missense_Mutation_p.S349I|R3HDM1_ENST00000410054.1_Missense_Mutation_p.S337I|R3HDM1_ENST00000409606.1_Missense_Mutation_p.S393I|R3HDM1_ENST00000329971.3_Missense_Mutation_p.S349I|R3HDM1_ENST00000443537.2_3'UTR	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	393							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGAGGTGATAGTTCTGGAAGC	0.433000													5	121					0.00116845	0.00120016	1	1	0
SATB1	6304	broad.mit.edu	37	3	18390764	18390764	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:18390764C>T	ENST00000338745.6	-	11	3924	c.2190G>A	c.(2188-2190)gaG>gaA	p.E730E	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Silent_p.E730E|SATB1_ENST00000417717.2_Silent_p.E762E	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	730					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTTGGACACTCTCTTCCAAAT	0.408000													28	237					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140584	56140584	+	Silent	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr20:56140584A>G	ENST00000319441.4	+	10	1757	c.1593A>G	c.(1591-1593)ggA>ggG	p.G531G	PCK1_ENST00000543666.1_Silent_p.G214G	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	531					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAGGCTTTGGAGAGAACTCCA	0.557000													9	51					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24916415	24916415	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr22:24916415C>T	ENST00000413389.2	+	7	2241	c.648C>T	c.(646-648)tgC>tgT	p.C216C	UPB1_ENST00000326010.5_Silent_p.C284C|UPB1_ENST00000498140.1_3'UTR			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	284	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GCTTCACCTGCGCCATCAATC	0.612000													6	45					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27056181	27056181	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:27056181C>T	ENST00000324856.7	+	2	1548	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q10*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q393*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	393					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q393*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATGAGACCTCAGCCATATGG	0.527000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								15	117					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79650642	79650642	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:79650642T>A	ENST00000275034.4	-	40	5401	c.5234A>T	c.(5233-5235)aAg>aTg	p.K1745M	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1745					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATCATCTATCTTTTTTCGGTT	0.413000													13	270					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158534303	158534303	+	Silent	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:158534303T>A	ENST00000251527.5	-	17	2225	c.2160A>T	c.(2158-2160)tcA>tcT	p.S720S	ESYT2_ENST00000435514.2_Silent_p.S155S	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	748						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GCTCCTTGACTGAGATGTGGC	0.647000													6	59					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697544	17697544	+	Silent	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:17697544A>G	ENST00000399080.2	-	1	2162	c.2139T>C	c.(2137-2139)tgT>tgC	p.C713C		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	713										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTGTTGAGGACAACTCATAT	0.323000													7	96					0	0	1	0	0
ZNF587	84914	broad.mit.edu	37	19	58367545	58367545	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:58367545A>T	ENST00000339656.5	+	2	289	c.107A>T	c.(106-108)cAg>cTg	p.Q36L	ZNF814_ENST00000597832.1_Intron|CTD-2583A14.10_ENST00000598031.1_Missense_Mutation_p.Q36L|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.Q35L|ZNF587_ENST00000419854.1_5'UTR|ZNF587B_ENST00000316462.4_3'UTR|ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		AGTGAGGCTCAGAGGTGCTTG	0.493000													12	109					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113775272	113775272	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:113775272C>G	ENST00000295878.3	-	1	188	c.42G>C	c.(40-42)agG>agC	p.R14S	KIAA1407_ENST00000545063.1_5'UTR|KIAA1407_ENST00000480588.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	14										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCAGCCCCATCCTTTTCTTTG	0.607000													18	182					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53615408	53615408	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chrX:53615408C>T	ENST00000342160.3	-	36	5005	c.4548G>A	c.(4546-4548)caG>caA	p.Q1516Q	HUWE1_ENST00000218328.8_Silent_p.Q1516Q|HUWE1_ENST00000262854.6_Silent_p.Q1516Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1516					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTGTGGCCATCTGACTTATCC	0.438000													4	20					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65197273	65197273	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:65197273C>G	ENST00000358691.5	-	7	567	c.401G>C	c.(400-402)aGa>aCa	p.R134T	HELZ_ENST00000580168.1_Missense_Mutation_p.R134T|HELZ_ENST00000580662.1_5'UTR	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGTTTTTAGTCTTGTCAAATC	0.338000											OREG0024677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	130					0	0	1	0	0
HINT2	84681	broad.mit.edu	37	9	35813690	35813690	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr9:35813690C>T	ENST00000259667.5	-	2	214	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	HINT2_ENST00000474908.1_5'UTR	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	58	HIT.				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity			NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GTCCAGGATCCGGGAGAAGAT	0.572000											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	28					0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127254980	127254980	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:127254980C>T	ENST00000341640.2	-	2	495	c.290G>A	c.(289-291)cGc>cAc	p.R97H	PAX4_ENST00000463946.1_Missense_Mutation_p.R95H|PAX4_ENST00000338516.3_Missense_Mutation_p.R105H|PAX4_ENST00000378740.2_Missense_Mutation_p.R97H	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	105	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACAAAGCTGGCGTTGGATTTC	0.592000													7	71					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53209385	53209385	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:53209385A>C	ENST00000543227.1	-	6	1197	c.923T>G	c.(922-924)cTt>cGt	p.L308R	ZNF611_ENST00000319783.1_Missense_Mutation_p.L308R|ZNF611_ENST00000602162.1_Missense_Mutation_p.L239R|ZNF611_ENST00000540744.1_Missense_Mutation_p.L308R|ZNF611_ENST00000595798.1_Missense_Mutation_p.L239R|ZNF611_ENST00000453741.2_Missense_Mutation_p.L239R	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCCAGTATGAAGTCTACGATG	0.408000													7	230					0	0	1	0	0
C9orf156	51531	broad.mit.edu	37	9	100667250	100667250	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr9:100667250T>C	ENST00000375119.3	-	5	1167	c.1091A>G	c.(1090-1092)tAt>tGt	p.Y364C		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	364					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TGACTGAAAATATTTAAATGA	0.443000													12	75					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121658028	121658028	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:121658028C>G	ENST00000369075.3	+	2	325	c.253C>G	c.(253-255)Cag>Gag	p.Q85E	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	85	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TTACTTCTCTCAGGTATCAAG	0.468000													16	148					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25349873	25349873	+	RNA	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr15:25349873G>A	ENST00000546682.1	+	0	2343				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000516123.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						TCTGTGAACTGAGGTCAAGCA	0.453000													6	63					0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24108426	24108426	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr14:24108426G>A	ENST00000250383.6	+	3	655	c.179G>A	c.(178-180)gGg>gAg	p.G60E	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.G60E	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	38					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GCCCGGGACGGGGCCCACGTG	0.647000													32	147					0	0	1	0	0
SNHG7	84973	broad.mit.edu	37	9	139620605	139620605	+	RNA	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr9:139620605G>A	ENST00000414282.1	-	0	451				SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000416970.1_RNA																							CCCGAGCACTGAGTGTAGAAA	0.542000													12	85					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109617198	109617198	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr13:109617198T>C	ENST00000356711.2	+	20	2377	c.2251T>C	c.(2251-2253)Ttt>Ctt	p.F751L	MYO16_ENST00000457511.2_Missense_Mutation_p.F263L|MYO16_ENST00000357550.2_Missense_Mutation_p.F751L|MYO16_ENST00000251041.5_Missense_Mutation_p.F751L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	751	Myosin head-like 1.				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)			TTTGTTTAGCTTTTTGGTGAA	0.398000													15	134					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532951	42532951	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr18:42532951G>A	ENST00000282030.5	+	4	3942	c.3646G>A	c.(3646-3648)Gaa>Aaa	p.E1216K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1216						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCAGCACAGCGAAGCCGGCCA	0.542000									Schinzel-Giedion syndrome				7	68					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27059368	27059368	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:27059368G>T	ENST00000261191.7	-	16	2484	c.1948C>A	c.(1948-1950)Cca>Aca	p.P650T	ASUN_ENST00000539625.1_Missense_Mutation_p.P549T	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	650					cell division|mitosis|regulation of mitotic cell cycle		protein binding										AACGACACTGGCCCTAGTGTT	0.318000													5	137					3.59834e-05	3.7748e-05	1	1	0
YWHAQ	10971	broad.mit.edu	37	2	9731542	9731542	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:9731542C>T	ENST00000381844.4	-	2	560	c.397G>A	c.(397-399)Gcg>Acg	p.A133T	YWHAQ_ENST00000238081.3_Missense_Mutation_p.A133T|YWHAQ_ENST00000474715.1_5'UTR			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	133					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		TCACCACACGCAACTTCAGCA	0.348000													8	94					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65860683	65860683	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:65860683A>G	ENST00000395325.3	+	13	1992	c.1835A>G	c.(1834-1836)cAg>cGg	p.Q612R	DNAJC6_ENST00000371069.4_Missense_Mutation_p.Q669R|DNAJC6_ENST00000263441.7_Missense_Mutation_p.Q599R	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	612	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCCTTTCTCCAGCCAACAAGA	0.438000													13	213					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968034	4968034	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chrY:4968034T>A	ENST00000333703.4	+	5	2895	c.2382T>A	c.(2380-2382)aaT>aaA	p.N794K	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.N805K|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.N805K	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	805	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGTTCGTGAATGAGTCAGTGA	0.423000													11	68					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47931385	47931385	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr21:47931385G>A	ENST00000318711.7	+	8	1146	c.963G>A	c.(961-963)ctG>ctA	p.L321L	DIP2A_ENST00000466639.1_Silent_p.L277L|DIP2A_ENST00000417564.2_Silent_p.L320L|DIP2A_ENST00000457905.3_Silent_p.L320L|DIP2A_ENST00000427143.2_Silent_p.L256L|DIP2A_ENST00000400274.1_Silent_p.L316L|DIP2A_ENST00000435722.3_Silent_p.L320L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	320					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGAGTGTGCTGAGAGGGGAGC	0.552000													4	32					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48146561	48146561	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:48146561G>A	ENST00000418331.2	+	6	1268	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	PTPRJ_ENST00000440289.2_Missense_Mutation_p.A306T	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	306	Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GAGCCCCACCGCCCCTGTGCA	0.587000													20	233					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44664045	44664045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:44664045C>T	ENST00000222673.5	+	2	145	c.103C>T	c.(103-105)Caa>Taa	p.Q35*	OGDH_ENST00000444676.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000443864.2_Nonsense_Mutation_p.Q35*|OGDH_ENST00000449767.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000439616.2_Nonsense_Mutation_p.Q35*|OGDH_ENST00000447398.1_Nonsense_Mutation_p.Q35*	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	35					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.Q35K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TAGGACATTTCAACAGATTCG	0.468000													8	220					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161302638	161302638	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:161302638A>C	ENST00000428797.2	+	7	904	c.549A>C	c.(547-549)aaA>aaC	p.K183N	GABRA1_ENST00000437025.2_Missense_Mutation_p.K183N|GABRA1_ENST00000444819.1_Missense_Mutation_p.K183N|GABRA1_ENST00000023897.6_Missense_Mutation_p.K183N|GABRA1_ENST00000420560.1_Missense_Mutation_p.K183N|GABRA1_ENST00000393943.4_Missense_Mutation_p.K183N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	183					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GCCCACTAAAATTTGGAAGTT	0.398000													7	107					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75387378	75387378	+	Missense_Mutation	SNP	G	G	A	rs147147941		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr9:75387378G>A	ENST00000297784.5	+	13	1331	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	TMC1_ENST00000396237.3_Missense_Mutation_p.R264Q|TMC1_ENST00000340019.3_Missense_Mutation_p.R264Q	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	264					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						GACAATAAACGAACAATTGGA	0.408000													32	216					0	0	1	0	0
HOXC13	3229	broad.mit.edu	37	12	54338863	54338863	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:54338863G>A	ENST00000243056.3	+	2	972	c.816G>A	c.(814-816)ctG>ctA	p.L272L		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	272						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						AGGTGCAGCTGAAGGAGCTAG	0.612000			T	NUP98	AML								12	137					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73462856	73462856	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:73462856G>A	ENST00000252034.7	+	15	1168	c.769G>A	c.(769-771)Gca>Aca	p.A257T	ELN_ENST00000380584.4_Missense_Mutation_p.A243T|ELN_ENST00000380575.4_Missense_Mutation_p.A247T|ELN_ENST00000358929.4_Missense_Mutation_p.A257T|ELN_ENST00000320399.6_Missense_Mutation_p.A257T|ELN_ENST00000445912.1_Missense_Mutation_p.A257T|ELN_ENST00000380562.4_Missense_Mutation_p.A257T|ELN_ENST00000320492.7_Missense_Mutation_p.A221T|ELN_ENST00000380576.5_Missense_Mutation_p.A257T|ELN_ENST00000414324.1_Missense_Mutation_p.A252T|ELN_ENST00000429192.1_Missense_Mutation_p.A262T|ELN_ENST00000458204.1_Missense_Mutation_p.A247T|ELN_ENST00000357036.5_Missense_Mutation_p.A262T|ELN_ENST00000380553.4_Missense_Mutation_p.A140T	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	257	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	Ggcagcagcagcagcggcagc	0.612000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						8	115					0	0	1	0	0
GBAP1	2630	broad.mit.edu	37	1	155188254	155188254	+	RNA	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:155188254G>A	ENST00000486869.1	-	0	112					NR_002188.2																						TACCCTACCCGAAGGCTTGGG	0.552000													9	125					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133378500	133378500	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:133378500C>T	ENST00000204726.3	-	8	2211	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q	GOLGA3_ENST00000545875.1_Silent_p.Q551Q|GOLGA3_ENST00000456883.2_Silent_p.Q551Q|GOLGA3_ENST00000450791.2_Silent_p.Q551Q|GOLGA3_ENST00000537452.1_Silent_p.Q551Q	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	551	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCCGCTCCAGCTGCACCTGCT	0.652000													6	63					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21967685	21967685	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr14:21967685C>T	ENST00000298717.4	-	8	1554	c.1403G>A	c.(1402-1404)cGg>cAg	p.R468Q		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	468					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ACGGCCTGTCCGAATGATGCG	0.448000													17	163					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103176	168103176	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:168103176G>A	ENST00000409195.1	+	9	5363	c.5274G>A	c.(5272-5274)ctG>ctA	p.L1758L	XIRP2_ENST00000295237.9_Silent_p.L1758L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L1536L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1583					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						TGGATTATCTGAAACAACTCC	0.378000													4	65					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153296	5153296	+	Missense_Mutation	SNP	C	C	T	rs142969856	byFrequency	TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:5153296C>T	ENST00000307388.1	-	1	576	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E193K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CGGATATCTTCAGTAGCCAGC	0.403000													7	126					0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39122301	39122301	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr22:39122301C>T	ENST00000216044.5	+	8	1490	c.1257C>T	c.(1255-1257)ggC>ggT	p.G419G	GTPBP1_ENST00000460605.1_3'UTR	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	419					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CACTGAGAGGCCTGATCAAGC	0.582000													4	42					0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35656390	35656390	+	Silent	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:35656390T>A	ENST00000357214.5	-	3	1322	c.1224A>T	c.(1222-1224)ggA>ggT	p.G408G		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	408	RRM 2.				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTGTAGATCTTCCACGATCAT	0.413000			T	TFE3	papillary renal cell								5	113					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115815870	115815870	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:115815870C>T	ENST00000343348.6	-	12	1985	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.E400K|SEMA6A_ENST00000510263.1_Missense_Mutation_p.E400K|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	400	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGCACTGCCTCATCCATGAGC	0.498000													5	103					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34770228	34770228	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr20:34770228C>G	ENST00000338074.2	+	6	686	c.525C>G	c.(523-525)ttC>ttG	p.F175L	EPB41L1_ENST00000441639.1_Missense_Mutation_p.F113L|EPB41L1_ENST00000373950.2_Missense_Mutation_p.F78L|EPB41L1_ENST00000202028.5_Missense_Mutation_p.F113L|EPB41L1_ENST00000373941.1_Missense_Mutation_p.F175L|EPB41L1_ENST00000373946.3_Missense_Mutation_p.F144L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	175	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CAGTCAAGTTCTACCCGCCTG	0.572000													7	105					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457692	45457692	+	RNA	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:45457692G>C	ENST00000548424.1	+	0	448																											TATGGACTCTGAGCCACTCTC	0.483000													6	79					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174794	63174794	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr14:63174794G>T	ENST00000322893.7	-	11	2667	c.2399C>A	c.(2398-2400)cCa>cAa	p.P800Q	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	800					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)		CATTCTTATTGGGCTGTTGAC	0.438000													8	187					0.000157383	0.000163705	1	1	0
VGLL2	245806	broad.mit.edu	37	6	117589356	117589356	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:117589356T>A	ENST00000326274.5	+	2	283	c.93T>A	c.(91-93)taT>taA	p.Y31*	VGLL2_ENST00000352536.3_Nonsense_Mutation_p.Y31*	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	31					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		AACTAGCCTATTATTCCAAAA	0.473000													12	293					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43173108	43173108	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:43173108C>T	ENST00000252050.4	+	24	4824	c.4740C>T	c.(4738-4740)ccC>ccT	p.P1580P	CUL9_ENST00000354495.3_Silent_p.P1470P|CUL9_ENST00000372647.2_Silent_p.P1580P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1580					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACCTGGAACCCATTATGGTCC	0.547000													13	250					0	0	1	0	0
ZNF529	57711	broad.mit.edu	37	19	37037818	37037818	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:37037818G>T	ENST00000334116.7	-	6	1937	c.1327C>A	c.(1327-1329)Cat>Aat	p.H443N	ZNF529_ENST00000591340.1_Missense_Mutation_p.H548N	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					CAAGTAAGATGCCCAACAACA	0.343000													5	70					1.23904e-05	1.30537e-05	1	1	0
CDH3	1001	broad.mit.edu	37	16	68712041	68712041	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr16:68712041G>C	ENST00000264012.4	+	4	795	c.251G>C	c.(250-252)aGa>aCa	p.R84T	CDH3_ENST00000581171.1_Missense_Mutation_p.R29T|CDH3_ENST00000429102.2_Missense_Mutation_p.R84T	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	84					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTGCAGGAAAGAAGGTCACTG	0.458000													4	46					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47117201	47117201	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr16:47117201C>G	ENST00000562435.1	-	9	1893	c.1509G>C	c.(1507-1509)gaG>gaC	p.E503D	NETO2_ENST00000303155.5_Missense_Mutation_p.E496D	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	503						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CACAGGGAATCTCCTCCATTA	0.428000										HNSCC(25;0.065)			5	130					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141532	29141532	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:29141532G>A	ENST00000377167.2	+	1	222	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	40					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						TGATGACACTGACAGGAAACC	0.423000													23	185					0	0	1	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37474713	37474713	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:37474713C>G	ENST00000002125.4	+	9	1091	c.1051C>G	c.(1051-1053)Ctg>Gtg	p.L351V	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.L253V	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		AGTAGCCTCTCTGGGCCCAAT	0.383000													5	80					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89405061	89405061	+	RNA	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:89405061A>G	ENST00000532352.1	+	0	1001							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CTAGACAGATATGTCATTCTG	0.413000													4	158					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164758786	164758786	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:164758786T>A	ENST00000264382.3	-	18	2163	c.2101A>T	c.(2101-2103)Act>Tct	p.T701S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	701	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)	TAAAACAGAGTGTAGAGGAAG	0.358000										HNSCC(35;0.089)			8	176					0	0	1	0	0
RBM4B	83759	broad.mit.edu	37	11	66436698	66436698	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:66436698C>G	ENST00000525754.1	-	2	1145	c.477G>C	c.(475-477)caG>caC	p.Q159H	RBM4B_ENST00000524637.1_3'UTR|RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000310046.4_Missense_Mutation_p.Q159H			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	159					circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						AGCAGCCACTCTGGTCTCCCA	0.498000													3	85					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117878849	117878849	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr8:117878849G>A	ENST00000297338.2	-	2	407	c.120C>T	c.(118-120)agC>agT	p.S40S	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	40					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TACTCTCCACGCTGCTCTCTA	0.388000													4	102					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538057	27538057	+	RNA	SNP	G	G	A	rs148958496	by1000genomes	TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:27538057G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TGCAGAGTCTGAACCTGGTCT	0.507000													7	208					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130341208	130341208	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr9:130341208C>T	ENST00000373314.3	-	1	60	c.9G>A	c.(7-9)tgG>tgA	p.W3*		NM_001035534.1	NP_001030611.1	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	0							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TACCTCCCATCCACCCCATCC	0.537000													5	201					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256547	140256547	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:140256547G>A	ENST00000398631.2	+	1	1490	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGAGCGGCGGGTGGGC	0.672000													11	119					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122130285	122130285	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:122130285C>A	ENST00000334010.7	-	11	2123	c.1702G>T	c.(1702-1704)Gta>Tta	p.V568L	CADPS2_ENST00000412584.2_Missense_Mutation_p.V568L|CADPS2_ENST00000449022.2_Missense_Mutation_p.V568L|CADPS2_ENST00000313070.7_Missense_Mutation_p.V568L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	568	PH.				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						GCAAAGATTACAGTATCTCCT	0.383000													8	121					0.00307968	0.00314357	1	1	0
KCNK3	3777	broad.mit.edu	37	2	26916025	26916025	+	Splice_Site	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:26916025C>T	ENST00000302909.3	+	1	407	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	94					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACCACCATCGGTAACGGCT	0.751000													5	52					0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99850548	99850548	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:99850548C>T	ENST00000369239.5	-	11	1399	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	PNISR_ENST00000438806.1_Missense_Mutation_p.E399K	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	399						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCACTCCTCTCATCTTCACTG	0.398000													5	167					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858342	9858342	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr16:9858342G>T	ENST00000396573.2	-	14	3368	c.3059C>A	c.(3058-3060)tCc>tAc	p.S1020Y	GRIN2A_ENST00000535259.1_Missense_Mutation_p.S863Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1020Y|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1020Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1020Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1020Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1020					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGGCGTATGGAATCCACGGA	0.532000													10	142					0.000673444	0.000696081	1	1	0
SLC22A3	6581	broad.mit.edu	37	6	160819069	160819069	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:160819069T>C	ENST00000392145.1	+	2	515	c.488T>C	c.(487-489)cTc>cCc	p.L163P	SLC22A3_ENST00000275300.2_Missense_Mutation_p.L163P			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	163						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		ATCCTGAACCTCGGCTTCCTG	0.463000													4	123					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4875528	4875528	+	Splice_Site	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:4875528G>A	ENST00000361571.5	-	15	3215	c.2804C>T	c.(2803-2805)cCg>cTg	p.P935L	CAMTA2_ENST00000381311.5_Splice_Site_p.P938L|CAMTA2_ENST00000572543.1_Splice_Site_p.P941L|CAMTA2_ENST00000358183.4_Splice_Site_p.P936L|CAMTA2_ENST00000414043.3_Splice_Site_p.P959L|CAMTA2_ENST00000348066.3_Splice_Site_p.P936L	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	936					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AAGCAGTACCGGGATCACATC	0.562000													4	77					0	0	1	0	0
ZNF321P	399669	broad.mit.edu	37	19	53432648	53432648	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:53432648C>T	ENST00000391777.3	-	4	331	c.210G>A	c.(208-210)atG>atA	p.M70I	ZNF816_ENST00000549216.1_Start_Codon_SNP_p.M1I|ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF816_ENST00000434371.2_Missense_Mutation_p.M70I																endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						ACTCCTTCATCATGCATTTGG	0.348000													16	208					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107216267	107216267	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr4:107216267C>T	ENST00000273980.5	-	4	697	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	TBCK_ENST00000432496.2_Missense_Mutation_p.E84K|TBCK_ENST00000394706.3_Missense_Mutation_p.E84K|TBCK_ENST00000361687.4_Missense_Mutation_p.E84K|TBCK_ENST00000394708.2_Missense_Mutation_p.E84K			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase		Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GGTTTCCTTTCTCGAAGCAAG	0.378000													6	173					0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55994180	55994180	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:55994180C>T	ENST00000598519.1	+	3	2173	c.1620C>T	c.(1618-1620)tgC>tgT	p.C540C	ZNF628_ENST00000391718.2_Silent_p.C536C			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	536						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCTACGCCTGCGGGGAGTGTG	0.687000													12	50					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49227663	49227663	+	Silent	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:49227663T>G	ENST00000340334.7	-	3	503	c.135A>C	c.(133-135)gcA>gcC	p.A45A	FOLH1_ENST00000256999.2_Silent_p.A60A|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Silent_p.A60A|FOLH1_ENST00000533034.1_Silent_p.A45A	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	60					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CATCCAAAAATGCTTTCATAT	0.323000													5	122					0	0	1	0	0
C4A	720	broad.mit.edu	37	6	31963874	31963874	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:31963874G>C	ENST00000428956.2	+	26	3457	c.3373G>C	c.(3373-3375)Gac>Cac	p.D1125H	C4A_ENST00000498271.1_Missense_Mutation_p.D1125H	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		TCCAGTGTTAGACAGGAGCAT	0.607000													13	141					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16641726	16641726	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:16641726G>A	ENST00000375592.3	-	2	404	c.188C>T	c.(187-189)tCa>tTa	p.S63L	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	63	F-box.									autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CTGATACGGTGAGAGAAAGGA	0.463000													16	85					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29095920	29095920	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr22:29095920T>A	ENST00000544772.1	-	10	1687	c.251A>T	c.(250-252)gAa>gTa	p.E84V	CHEK2_ENST00000402731.1_Missense_Mutation_p.E305V|CHEK2_ENST00000403642.1_Missense_Mutation_p.E214V|CHEK2_ENST00000405598.1_Missense_Mutation_p.E305V|CHEK2_ENST00000348295.3_Missense_Mutation_p.E305V|CHEK2_ENST00000382566.1_Silent_p.G284G|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.E348V|CHEK2_ENST00000404276.1_Missense_Mutation_p.E305V|CHEK2_ENST00000328354.6_Missense_Mutation_p.E305V|CHEK2_ENST00000382578.1_Missense_Mutation_p.E214V	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	305					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CTCTCCCCCTTCCATCCTGAA	0.443000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					12	288					0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156746102	156746102	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:156746102A>T	ENST00000470811.1	+	13	2002	c.667A>T	c.(667-669)Aag>Tag	p.K223*	LEKR1_ENST00000356539.4_Nonsense_Mutation_p.K527*			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	108										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAACTTGAGGAAGGAAATGGA	0.373000													4	38					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56525269	56525269	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:56525269C>T	ENST00000394048.5	+	6	987	c.723C>T	c.(721-723)ggC>ggT	p.G241G	ESYT1_ENST00000541590.1_Silent_p.G241G|ESYT1_ENST00000267113.4_Silent_p.G241G	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	241						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AGCTACATGGCGTTTTGCGGG	0.517000													11	291					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27002138	27002138	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:27002138A>G	ENST00000314616.6	+	5	779	c.496A>G	c.(496-498)Atg>Gtg	p.M166V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.M166V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	166	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGAGGCCCCCATGGCTCCTCC	0.527000													9	79					0	0	1	0	0
APMAP	57136	broad.mit.edu	37	20	24950942	24950942	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr20:24950942C>G	ENST00000217456.2	-	6	894	c.604G>C	c.(604-606)Gat>Cat	p.D202H	APMAP_ENST00000447138.1_Missense_Mutation_p.D202H	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein																		ACTGTAAGATCATTCACAAAG	0.443000													7	174					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819769	43819769	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr15:43819769T>C	ENST00000382031.1	+	5	6843	c.6812T>C	c.(6811-6813)tTc>tCc	p.F2271S	MAP1A_ENST00000399453.1_Missense_Mutation_p.F2033S|MAP1A_ENST00000300231.5_Missense_Mutation_p.F2033S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2033						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACTCCAACCTTCAGCTATGCA	0.607000													9	107					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8989600	8989600	+	Splice_Site	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr16:8989600T>A	ENST00000344836.4	-	27	3018		c.e27-2		USP7_ENST00000381886.4_Splice_Site|USP7_ENST00000535863.1_Splice_Site	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)						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						TCTAGCAGCCTGAACAGAGAG	0.318000													3	51					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975467	118975467	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr4:118975467G>A	ENST00000296499.5	+	2	805	c.402G>A	c.(400-402)gaG>gaA	p.E134E	NDST3_ENST00000433996.2_Silent_p.E134E	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	134	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TTATTTATGAGAATATTTTAA	0.348000													4	50					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823529	97823529	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:97823529C>T	ENST00000297293.5	+	11	4045	c.3752C>T	c.(3751-3753)tCc>tTc	p.S1251F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1251					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCCAGCCACTCCGAGGGCCCG	0.612000													7	32					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39866339	39866339	+	Silent	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:39866339C>G	ENST00000314471.6	+	7	1752	c.717C>G	c.(715-717)ctC>ctG	p.L239L	SAMD4B_ENST00000598913.1_Silent_p.L239L|SAMD4B_ENST00000596368.1_Silent_p.L239L	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	239							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCATGTCACTCATCCCTACAA	0.612000													8	301					0	0	1	0	0
CLINT1	9685	broad.mit.edu	37	5	157240233	157240233	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:157240233C>G	ENST00000523094.1	-	5	506	c.301G>C	c.(301-303)Gag>Cag	p.E101Q	CLINT1_ENST00000530742.1_Missense_Mutation_p.E101Q|CLINT1_ENST00000523908.1_Missense_Mutation_p.E119Q|CLINT1_ENST00000411809.2_Missense_Mutation_p.E119Q|CLINT1_ENST00000296951.5_Missense_Mutation_p.E101Q	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	119	ENTH.				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTACCATGCTCATCTATGAGG	0.363000													9	54					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2695596	2695596	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr4:2695596C>T	ENST00000324666.5	+	14	2565	c.2214C>T	c.(2212-2214)gtC>gtT	p.V738V	FAM193A_ENST00000545951.1_Silent_p.V738V|FAM193A_ENST00000382839.3_Silent_p.V738V|FAM193A_ENST00000505311.1_Silent_p.V738V|FAM193A_ENST00000502458.1_Silent_p.V760V	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	738										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CTCCAAGTGTCTGCAGGTGAG	0.567000													4	74					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29161444	29161444	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:29161444G>C	ENST00000321990.4	+	2	723	c.345G>C	c.(343-345)aaG>aaC	p.K115N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	115					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGAAAAGAAAGAGGGTTAATT	0.323000													6	180					0	0	1	0	0
DUSP15	128853	broad.mit.edu	37	20	30450395	30450395	+	Silent	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr20:30450395A>G	ENST00000278979.3	-	6	481	c.405T>C	c.(403-405)ttT>ttC	p.F135F	DUSP15_ENST00000398084.2_Silent_p.F35F|DUSP15_ENST00000339738.5_Silent_p.F138F|DUSP15_ENST00000486996.1_Silent_p.F35F|DUSP15_ENST00000375966.4_Silent_p.F135F|DUSP15_ENST00000398083.1_Silent_p.F35F			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	135						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGCCCAGCCAAACTCTTCAA	0.607000													5	95					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858759	9858759	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr16:9858759T>G	ENST00000396573.2	-	14	2951	c.2642A>C	c.(2641-2643)aAg>aCg	p.K881T	GRIN2A_ENST00000535259.1_Missense_Mutation_p.K724T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K881T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K881T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K881T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K881T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	881					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCTGGAGACTTCTTCTTTTC	0.468000													5	117					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18390769	18390769	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:18390769C>T	ENST00000338745.6	-	11	3919	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.E729K|SATB1_ENST00000417717.2_Missense_Mutation_p.E761K	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	729					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ACACTCTCTTCCAAATCCTTC	0.418000													30	235					0	0	1	0	0
TMEM205	374882	broad.mit.edu	37	19	11456266	11456266	+	Silent	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:11456266C>G	ENST00000354882.5	-	1	456	c.30G>C	c.(28-30)ctG>ctC	p.L10L	TMEM205_ENST00000447337.1_Silent_p.L10L|TMEM205_ENST00000586956.1_Silent_p.L10L|TMEM205_ENST00000586218.1_Intron|TMEM205_ENST00000587948.1_Silent_p.L10L|CCDC159_ENST00000587100.1_Intron|TMEM205_ENST00000588560.1_Silent_p.L10L|TMEM205_ENST00000593256.2_Silent_p.L10L|TMEM205_ENST00000586590.1_Silent_p.L10L|CCDC159_ENST00000588790.1_Intron|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000589555.1_Silent_p.L10L			Q6UW68	TM205_HUMAN	transmembrane protein 205	10						integral to membrane				endometrium(1)|lung(1)	2						CCATCTTAATCAGGCCTCCTA	0.567000													4	46					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149901560	149901560	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:149901560G>C	ENST00000439741.2	-	16	2146	c.1896C>G	c.(1894-1896)atC>atG	p.I632M	MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.I560M|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	632	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCCAGAGCCTGATCTGGGGTC	0.587000													4	172					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043187	71043187	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:71043187C>T	ENST00000272367.2	-	4	1402	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	CLEC4F_ENST00000426626.1_Silent_p.Q442Q	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	442					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TCAGGCGACTCTGCTCCTGCT	0.522000													5	70					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101624450	101624450	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:101624450C>G	ENST00000409318.1	-	20	3431	c.3301G>C	c.(3301-3303)Gaa>Caa	p.E1101Q	RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409038.1_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.E1086Q	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1086					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AAAATATGTTCAAGGGAGACA	0.463000													4	73					0	0	1	0	0
RPL30	6156	broad.mit.edu	37	8	99057291	99057291	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr8:99057291G>C	ENST00000521291.1	-	2	193	c.47C>G	c.(46-48)tCt>tGt	p.S16C	RPL30_ENST00000518164.1_5'UTR|RPL30_ENST00000523172.1_Intron|RPL30_ENST00000287038.3_Missense_Mutation_p.S16C|RPL30_ENST00000396070.2_Missense_Mutation_p.S16C			P62888	RL30_HUMAN	ribosomal protein L30	16					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			TTGGAGCCTAGAGTTGATCGA	0.478000													7	321					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40843809	40843809	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:40843809A>G	ENST00000254691.5	+	2	1038	c.839A>G	c.(838-840)gAa>gGa	p.E280G	CARD6_ENST00000381677.3_Missense_Mutation_p.E280G	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	280	Asp/Glu-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAAAGTATAGAAGGTATGGAA	0.398000													4	28					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112357176	112357176	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:112357176A>T	ENST00000206423.3	-	2	2530	c.1577T>A	c.(1576-1578)gTg>gAg	p.V526E	CCDC80_ENST00000439685.2_Missense_Mutation_p.V526E	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	526	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AACATTCCCCACCTGCAGCTC	0.448000													4	65					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196695907	196695907	+	Silent	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:196695907T>C	ENST00000367429.4	+	14	2313	c.2073T>C	c.(2071-2073)tgT>tgC	p.C691C		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	691	Sushi 12.				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						AGAGTACCTGTGGAGATATAC	0.343000													5	72					0	0	1	0	0
PTS	5805	broad.mit.edu	37	11	112104239	112104239	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:112104239C>T	ENST00000280362.3	+	6	478	c.399C>T	c.(397-399)taC>taT	p.Y133Y	PTS_ENST00000524931.1_Silent_p.Y65Y|PTS_ENST00000525803.1_3'UTR	NM_000317.2	NP_000308.1	Q03393	PTPS_HUMAN	6-pyruvoyltetrahydropterin synthase	133					cellular amino acid metabolic process|central nervous system development|tetrahydrobiopterin biosynthetic process	mitochondrion	6-pyruvoyltetrahydropterin synthase activity|metal ion binding			breast(1)|large_intestine(1)	2		all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519)		TAAAAGTATACGAAACTGACA	0.333000													4	77					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21721898	21721898	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:21721898A>G	ENST00000261195.2	-	5	978	c.724T>C	c.(724-726)Tac>Cac	p.Y242H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	242					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.Y242N(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCATGCAGTACCGGTGGTAA	0.438000													8	109					0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101717853	101717853	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr8:101717853C>T	ENST00000318607.5	-	12	2779	c.1651G>A	c.(1651-1653)Gca>Aca	p.A551T	PABPC1_ENST00000519004.1_Missense_Mutation_p.A506T|PABPC1_ENST00000522387.1_Missense_Mutation_p.A519T	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	551	PABC.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GGGGCAGATGCCAACATGGAA	0.423000													22	44					0	0	1	0	0
IGLV2-8	28817	broad.mit.edu	37	22	23165695	23165695	+	RNA	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr22:23165695G>A	ENST00000390317.2	+	0	428																											TCCAAGTCTGGCAACACGGCC	0.542000													39	299					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25144925	25144925	+	Silent	SNP	G	G	A	rs146639297		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr22:25144925G>A	ENST00000332271.5	-	12	1814	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Silent_p.S357S|PIWIL3_ENST00000533313.1_Silent_p.S357S	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	466					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTCCCGGGACGGACAAAAAAT	0.358000													8	127					0	0	1	0	0
APOA1BP	128240	broad.mit.edu	37	1	156563378	156563378	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:156563378G>A	ENST00000368233.3	+	5	722	c.695G>A	c.(694-696)aGa>aAa	p.R232K	APOA1BP_ENST00000368235.3_Intron|APOA1BP_ENST00000368234.3_Intron			Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	229	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGTGGGGGAGATTGGGGCCC	0.572000													8	34					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21454134	21454134	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:21454134A>T	ENST00000307378.6	-	8	1379	c.659T>A	c.(658-660)gTt>gAt	p.V220D	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.V88D|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.V218D|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.V88D|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.V220D	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	220			V -> I (in a colorectal cancer sample; somatic mutation).		bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GTCAACATAAACATTTGCACA	0.313000													15	105					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54744750	54744750	+	Silent	SNP	G	G	A	rs140883375	by1000genomes	TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:54744750G>A	ENST00000440558.2	-	5	960	c.912C>T	c.(910-912)tcC>tcT	p.S304S	LILRA6_ENST00000419410.2_Silent_p.S304S|LILRA6_ENST00000245621.5_Silent_p.S304S|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Silent_p.S304S					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCGACCACTCGGAGGAGAGGT	0.687000													12	108					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46890667	46890667	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:46890667T>C	ENST00000378623.1	-	32	4951	c.4709A>G	c.(4708-4710)tAc>tGc	p.Y1570C	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1570					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTCTGTCCAGTAGATCCACCT	0.483000													5	32					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			18	138					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56485124	56485124	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:56485124G>C	ENST00000291971.3	+	7	2712	c.2641G>C	c.(2641-2643)Gat>Cat	p.D881H	NLRP8_ENST00000590542.1_Missense_Mutation_p.D862H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	881						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGCCTTGAAAGATGAAGGGGC	0.502000													9	165					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715925	101715925	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:101715925T>A	ENST00000342239.3	-	4	1397	c.1306A>T	c.(1306-1308)Agc>Tgc	p.S436C	DNMBP_ENST00000324109.4_Missense_Mutation_p.S436C|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	436					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGCGGGTGGCTCCCTCCCACT	0.488000													6	136					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956521	143956521	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr8:143956521A>G	ENST00000292427.4	-	8	1282	c.1250T>C	c.(1249-1251)tTc>tCc	p.F417S	CYP11B1_ENST00000377675.3_Missense_Mutation_p.F488S|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	417					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGGCCTCGGGAACAAGGCGGG	0.627000									Familial Hyperaldosteronism type I				5	101					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509750	71509750	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr4:71509750C>G	ENST00000396073.3	+	9	2888	c.2607C>G	c.(2605-2607)agC>agG	p.S869R	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	869					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TTCACCTAAGCCAGAGAGGCT	0.478000													8	91					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128620040	128620040	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:128620040C>T	ENST00000393245.1	-	15	2380	c.2007G>A	c.(2005-2007)caG>caA	p.Q669Q	TNPO3_ENST00000471166.1_Silent_p.Q669Q|TNPO3_ENST00000471234.1_Silent_p.Q571Q|TNPO3_ENST00000265388.5_Silent_p.Q635Q|TNPO3_ENST00000482320.1_Silent_p.Q569Q	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	635					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GTATGACTTTCTGACACGGAT	0.438000													6	70					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70645939	70645939	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:70645939G>C	ENST00000298596.6	+	3	2470	c.2387G>C	c.(2386-2388)aGa>aCa	p.R796T	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R686T|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.R796T	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	796						cytoplasm|nucleolus	DNA binding	p.R796I(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GTGCTTAAAAGAAATGAATGC	0.473000													7	81					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967059	81967059	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr4:81967059C>G	ENST00000282701.2	+	2	804	c.484C>G	c.(484-486)Cag>Gag	p.Q162E		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	162					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GAAACACATTCAGATTGATCT	0.453000													6	121					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55693510	55693510	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:55693510C>T	ENST00000376350.3	-	19	3094	c.3072G>A	c.(3070-3072)gtG>gtA	p.V1024V	PTPRH_ENST00000263434.5_Silent_p.V846V	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1024	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGTGCGACCCACGCCAGCAC	0.587000													5	90					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161300307	161300307	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:161300307G>T	ENST00000428797.2	+	6	795	c.440G>T	c.(439-441)cGg>cTg	p.R147L	GABRA1_ENST00000437025.2_Missense_Mutation_p.R147L|GABRA1_ENST00000444819.1_Missense_Mutation_p.R147L|GABRA1_ENST00000023897.6_Missense_Mutation_p.R147L|GABRA1_ENST00000420560.1_Missense_Mutation_p.R147L|GABRA1_ENST00000393943.4_Missense_Mutation_p.R147L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	147					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AAACTCCTGCGGATCACAGAG	0.468000													5	40					0.000602214	0.000623767	1	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140772493	140772493	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:140772493A>T	ENST00000398604.2	+	1	113	c.113A>T	c.(112-114)gAg>gTg	p.E38V	PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCAGAAGAGACGGACAAA	0.622000													5	58					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55051509	55051509	+	Splice_Site	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:55051509G>A	ENST00000371316.3	+	3	325	c.243G>A	c.(241-243)gcG>gcA	p.A81A	ACOT11_ENST00000343744.2_Splice_Site_p.A81A|ACOT11_ENST00000481208.1_Intron	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	81	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TGACACCAGCGGAGAGGCACG	0.587000													4	52					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160850408	160850408	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:160850408T>C	ENST00000326245.3	-	6	770	c.655A>G	c.(655-657)Aca>Gca	p.T219A	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	219	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TAAGATGCTGTTTTCTGGGCG	0.443000													17	275					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66460432	66460432	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:66460432C>G	ENST00000404260.3	+	29	5742	c.5434C>G	c.(5434-5436)Ctc>Gtc	p.L1812V	MAST4_ENST00000403625.2_Missense_Mutation_p.L1809V|MAST4_ENST00000261569.7_Missense_Mutation_p.L1615V|MAST4_ENST00000405643.1_Missense_Mutation_p.L1630V|MAST4_ENST00000403666.1_Missense_Mutation_p.L1620V			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1812						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGACATTGCTCTCCTGTCCGG	0.597000													10	104					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180805846	180805846	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:180805846C>G	ENST00000367590.4	+	11	1693	c.1495C>G	c.(1495-1497)Cac>Gac	p.H499D	XPR1_ENST00000367589.3_Intron	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	499	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TTACAGCACTCACAAAGGTAT	0.393000													7	135					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170884925	170884925	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:170884925T>A	ENST00000436636.2	-	10	1252	c.908A>T	c.(907-909)aAg>aTg	p.K303M	TNIK_ENST00000369326.5_Missense_Mutation_p.K303M|TNIK_ENST00000341852.6_Missense_Mutation_p.K303M|TNIK_ENST00000538048.1_Missense_Mutation_p.K303M|TNIK_ENST00000470834.1_Missense_Mutation_p.K303M|TNIK_ENST00000460047.1_Missense_Mutation_p.K303M|TNIK_ENST00000488470.1_Missense_Mutation_p.K303M|TNIK_ENST00000357327.5_Missense_Mutation_p.K303M|TNIK_ENST00000475336.1_Missense_Mutation_p.K303M|TNIK_ENST00000284483.8_Missense_Mutation_p.K303M	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	303	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AATATGGTCCTTGAGTTGAAT	0.433000													4	44					0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886177	57886177	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:57886177G>A	ENST00000302610.1	-	1	739	c.740C>T	c.(739-741)gCt>gTt	p.A247V	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				AAGGGCCACAGCAGTGATGTG	0.463000													5	72					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10102505	10102505	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chrX:10102505C>T	ENST00000380861.4	+	19	3023	c.2632C>T	c.(2632-2634)Ctg>Ttg	p.L878L	WWC3_ENST00000454666.1_Silent_p.L878L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	878										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGATCTCTTTCTGGAAGAAGC	0.522000													15	127					0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149677422	149677422	+	Silent	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:149677422C>A	ENST00000328668.7	-	2	1644	c.1065G>T	c.(1063-1065)gtG>gtT	p.V355V		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	355						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCCAGACCCACCAGGGTCG	0.652000													10	61					7.48243e-07	7.98559e-07	1	1	0
RECK	8434	broad.mit.edu	37	9	36083430	36083430	+	Missense_Mutation	SNP	C	C	G	rs1046658		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr9:36083430C>G	ENST00000377966.3	+	8	1074	c.508C>G	c.(508-510)Cga>Gga	p.R170G	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	170	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AGCCATTTTTCGAACAGACTC	0.408000													6	163					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39764056	39764056	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:39764056G>A	ENST00000395670.3	-	2	471	c.52C>T	c.(52-54)Cca>Tca	p.P18S	KIF21A_ENST00000544797.2_Missense_Mutation_p.P18S|KIF21A_ENST00000361961.3_Missense_Mutation_p.P18S|KIF21A_ENST00000361418.5_Missense_Mutation_p.P18S|KIF21A_ENST00000541463.2_Missense_Mutation_p.P18S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	18	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCAAGCTGTGGTCTTATTCTG	0.348000													5	126					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138706964	138706964	+	Silent	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr9:138706964G>C	ENST00000389532.4	-	16	4549	c.4485C>G	c.(4483-4485)ccC>ccG	p.P1495P	CAMSAP1_ENST00000409386.3_Silent_p.P1506P|CAMSAP1_ENST00000312405.6_Silent_p.P1217P|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1495	CKK.					cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AATTCTTGTGGGGTTCGTTCA	0.378000													6	16					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337520	19337520	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:19337520C>T	ENST00000252575.6	+	7	1397	c.1298C>T	c.(1297-1299)cCt>cTt	p.P433L		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGCCCTACCCCTGGGGACCCC	0.617000													6	38					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176694604	176694604	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:176694604C>A	ENST00000439151.2	+	15	5233	c.5188C>A	c.(5188-5190)Cat>Aat	p.H1730N	NSD1_ENST00000354179.4_Missense_Mutation_p.H1461N|NSD1_ENST00000361032.4_Missense_Mutation_p.H1627N|NSD1_ENST00000347982.4_Missense_Mutation_p.H1461N	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1730					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)		TGCTGCTTTTCATCGTGAATG	0.443000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			6	178					3.59834e-05	3.7748e-05	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7667517	7667517	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:7667517G>A	ENST00000572933.1	+	20	4722	c.3262G>A	c.(3262-3264)Gtg>Atg	p.V1088M	DNAH2_ENST00000389173.2_Missense_Mutation_p.V1088M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1088	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTTGGCCAACGTGGAGACTCA	0.557000													16	101					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394686	154394686	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:154394686A>G	ENST00000435029.4	+	1	1427	c.1267A>G	c.(1267-1269)Aca>Gca	p.T423A		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	423					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GATCATTTTGACAGAGCAAGT	0.473000													5	118					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215345383	215345383	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:215345383T>C	ENST00000444842.2	+	5	830	c.680T>C	c.(679-681)aTc>aCc	p.I227T	KCNK2_ENST00000391894.2_Missense_Mutation_p.I212T|KCNK2_ENST00000391895.2_Missense_Mutation_p.I223T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	227							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ATCTCAACAATCATATTTATA	0.403000													5	96					0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	118812031	118812031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr8:118812031G>A	ENST00000378204.2	-	11	2967	c.2161C>T	c.(2161-2163)Cag>Tag	p.Q721*		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	721					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AGCCTCATCTGAGAGTGGATC	0.547000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				4	127					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047483	11047483	+	RNA	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr21:11047483T>C	ENST00000470054.1	-	0	771									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAACTTACTTTGCATTTCCAG	0.333000													11	282					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1635658	1635658	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:1635658G>A	ENST00000409644.1	+	5	4197	c.4197G>A	c.(4195-4197)gtG>gtA	p.V1399V	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Silent_p.V196V|WDR81_ENST00000309182.5_Silent_p.V348V|WDR81_ENST00000545662.1_Silent_p.V30V|WDR81_ENST00000446363.1_Silent_p.V38V|WDR81_ENST00000419248.1_Silent_p.V172V	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	172										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCTGTGTGTGAAAACCATCA	0.587000													6	93					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121434223	121434223	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:121434223T>A	ENST00000275159.6	-	29	3276	c.3277A>T	c.(3277-3279)Ata>Tta	p.I1093L	TBC1D32_ENST00000398212.2_Missense_Mutation_p.I1052L|TBC1D32_ENST00000398197.2_5'UTR					TBC1 domain family, member 32																		GAAGATTTTATGGAAGTTTGC	0.318000													5	119					0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129825051	129825051	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:129825051G>C	ENST00000397622.2	-	7	1054	c.932C>G	c.(931-933)tCt>tGt	p.S311C	TMEM209_ENST00000462753.1_Missense_Mutation_p.S310C|TMEM209_ENST00000336804.8_Missense_Mutation_p.S310C|TMEM209_ENST00000473456.1_Missense_Mutation_p.S311C|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	311						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GGCTTGTTTAGAGCTGAGATC	0.383000													4	63					0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145151139	145151139	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr8:145151139G>A	ENST00000318911.4	+	3	512	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	147	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGAAGCTAAGGAGCTGGCTGC	0.622000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	176					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325137	57325137	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:57325137T>G	ENST00000326441.9	-	10	5036	c.4673A>C	c.(4672-4674)cAa>cCa	p.Q1558P	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q1432P|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q1434P|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q1558P	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1558					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCATCAGCTTGATTGGCACC	0.527000													13	90					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877544	2877544	+	Silent	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:2877544T>G	ENST00000586426.1	+	4	672	c.585T>G	c.(583-585)acT>acG	p.T195T	ZNF556_ENST00000307635.2_Silent_p.T196T			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAGAAAACTCACAGTGGAG	0.448000													6	88					0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49699032	49699032	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:49699032T>G	ENST00000303221.5	-	6	1072	c.857A>C	c.(856-858)cAa>cCa	p.Q286P	EMB_ENST00000508934.1_Missense_Mutation_p.Q232P|EMB_ENST00000514111.1_Missense_Mutation_p.Q236P	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	286						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CTTTTTCTTTTGTGTGTACTT	0.338000													5	97					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114751217	114751217	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr13:114751217C>T	ENST00000334062.7	-	23	2419	c.2298G>A	c.(2296-2298)tcG>tcA	p.S766S	RASA3_ENST00000389544.4_Silent_p.S734S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	766					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGACGAACGTCGAATACTCCT	0.622000													4	98					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725738	140725738	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:140725738C>T	ENST00000253812.6	+	1	2138	c.2138C>T	c.(2137-2139)gCg>gTg	p.A713V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGCTGGCGCTCAGGCTG	0.682000													11	188					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141328311	141328311	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:141328311G>A	ENST00000286364.3	+	22	2310	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Missense_Mutation_p.E760K			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	759					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	p.E759K(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						CAGAGAAACAGAAAGAATTTA	0.279000													9	89					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71002416	71002416	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr9:71002416C>T	ENST00000396396.1	+	4	838	c.609C>T	c.(607-609)ctC>ctT	p.L203L	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Silent_p.L203L	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	203					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATCTTAACCTCCTTCGGACCA	0.438000													7	168					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371710	55371710	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:55371710A>T	ENST00000302231.4	-	1	164	c.140T>A	c.(139-141)aTc>aAc	p.I47N		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GCTGGACTTGATGGTCACAAT	0.398000													4	48					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58275806	58275806	+	Splice_Site	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:58275806C>T	ENST00000300896.4	-	27	3444		c.e27-1		USP32_ENST00000592339.1_Splice_Site	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32						protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTGTCCTCATCTGTATGTACA	0.443000													9	93					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152555860	152555860	+	Silent	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:152555860T>C	ENST00000367255.5	-	111	21073	c.20472A>G	c.(20470-20472)caA>caG	p.Q6824Q	SYNE1_ENST00000356820.4_Silent_p.Q1348Q|SYNE1_ENST00000341594.5_Silent_p.Q6436Q|SYNE1_ENST00000423061.1_Silent_p.Q6753Q|SYNE1_ENST00000265368.4_Silent_p.Q6824Q|SYNE1_ENST00000448038.1_Silent_p.Q6753Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6824					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)		CTGTCACAGATTGCTGAGTCC	0.388000										HNSCC(10;0.0054)			11	187					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36863230	36863230	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:36863230C>G	ENST00000325718.7	+	2	228	c.137C>G	c.(136-138)aCg>aGg	p.T46R	MLLT6_ENST00000579179.1_3'UTR|MLLT6_ENST00000378137.5_Missense_Mutation_p.T46R	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	46					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CAGGTGCCAACGGGACCCTGG	0.612000			T	MLL	AL								3	54					0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782178	134782178	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:134782178C>A	ENST00000503143.2	-	1	860	c.621G>T	c.(619-621)ttG>ttT	p.L207F	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	207	Ser-rich.					nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATAGTGATATCAAGTGCGAAG	0.557000													8	51					0.00307968	0.00314357	1	1	0
MYCBPAP	84073	broad.mit.edu	37	17	48593987	48593987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:48593987G>T	ENST00000323776.5	+	2	424	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	MYCBPAP_ENST00000436259.2_Nonsense_Mutation_p.E51*	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	51					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GGAAGAGCCTGAACCTGTTAG	0.468000													5	52					0.00116845	0.00120016	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31241670	31241670	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr18:31241670T>A	ENST00000269197.5	+	5	446	c.446T>A	c.(445-447)tTc>tAc	p.F149Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTGTCTTCCTTCCAGCAGCAC	0.413000													4	25					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153661707	153661707	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:153661707G>A	ENST00000368680.3	+	17	3080	c.2608G>A	c.(2608-2610)Gaa>Aaa	p.E870K		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	870					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGTGCAGGCCGAAGCCTTTGA	0.602000													4	120					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			35	250					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37029299	37029299	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chrX:37029299G>C	ENST00000358047.3	+	1	2868	c.2816G>C	c.(2815-2817)gGa>gCa	p.G939A		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	939								p.G939A(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATGGGGTATGGAGCATGGTAC	0.443000													10	84					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196659332	196659332	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:196659332G>A	ENST00000367429.4	+	9	1539	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E	CFH_ENST00000359637.2_Silent_p.E369E|CFH_ENST00000439155.2_Silent_p.E433E	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	433	Sushi 7.				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						CATGTATGGAGAATGGCTGGT	0.433000													7	60					0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93220240	93220240	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:93220240G>C	ENST00000446394.1	+	3	425	c.325G>C	c.(325-327)Gat>Cat	p.D109H	HECTD2_ENST00000371681.4_Missense_Mutation_p.D109H|HECTD2_ENST00000298068.5_Missense_Mutation_p.D109H	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	109					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TACATCTATGGATGCATCATC	0.378000													6	172					0	0	1	0	0
GNAI3	2773	broad.mit.edu	37	1	110125115	110125115	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:110125115A>C	ENST00000369851.4	+	5	628	c.518A>C	c.(517-519)gAt>gCt	p.D173A		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	173					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		ACTCAGCAAGATGTTCTTCGG	0.378000													4	120					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28345491	28345491	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:28345491G>A	ENST00000337532.5	-	17	1745	c.1469C>T	c.(1468-1470)tCa>tTa	p.S490L	MPP7_ENST00000540098.1_Missense_Mutation_p.S490L|MPP7_ENST00000375732.1_Missense_Mutation_p.S490L|MPP7_ENST00000375719.3_Missense_Mutation_p.S490L	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	490	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ACGCTCTATTGATGGAGGCTT	0.353000													14	149					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065702	9065702	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:9065702C>T	ENST00000397910.4	-	3	21947	c.21744G>A	c.(21742-21744)ttG>ttA	p.L7248L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7250	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						CTGTCTCCCTCAATTTAGGGC	0.493000													8	202					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179429057	179429057	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:179429057C>G	ENST00000589042.1	-	326	82026	c.81802G>C	c.(81802-81804)Gat>Cat	p.D27268H	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D24700H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D18395H|TTN_ENST00000591111.1_Missense_Mutation_p.D25627H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D18328H|TTN_ENST00000460472.2_Missense_Mutation_p.D18203H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25627	Fibronectin type-III 98.						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)			TCAATTTCATCTCTTGCAGTA	0.398000													11	95					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21541245	21541245	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr14:21541245C>T	ENST00000298694.4	+	2	172	c.45C>T	c.(43-45)gcC>gcT	p.A15A	ARHGEF40_ENST00000298693.3_Silent_p.A15A			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	15					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCACTCTCGCCGCCCTGTATC	0.597000													5	77					0	0	1	0	0
FAM76B	143684	broad.mit.edu	37	11	95512827	95512827	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:95512827C>G	ENST00000358780.5	-	7	948	c.636G>C	c.(634-636)caG>caC	p.Q212H	FAM76B_ENST00000536839.1_Missense_Mutation_p.Q212H	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	212										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAGTTTCATTCTGAATTGTTG	0.318000													5	115					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71211775	71211775	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:71211775G>C	ENST00000457410.1	+	6	975	c.836G>C	c.(835-837)aGa>aCa	p.R279T	ANKRD53_ENST00000360589.3_Missense_Mutation_p.R313T|ANKRD53_ENST00000441349.1_3'UTR|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000272421.6_3'UTR			Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	313										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						GCTGCTATCAGAAAGTGGCTC	0.572000											OREG0014687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	92					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552069	178552069	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:178552069G>T	ENST00000251582.7	-	19	2964	c.2863C>A	c.(2863-2865)Cac>Aac	p.H955N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	955	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.H955N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGCTTGGCGTGCACGGAGCGG	0.697000													7	183					8.12818e-05	8.4726e-05	1	1	0
DPAGT1	1798	broad.mit.edu	37	11	118968638	118968638	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:118968638G>A	ENST00000409993.2	-	8	2395	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	DPAGT1_ENST00000354202.4_Nonsense_Mutation_p.Q282*|DPAGT1_ENST00000432443.2_Nonsense_Mutation_p.Q175*			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	282					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TTGAACACCTGGGGCATGAAG	0.527000													7	96					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457166	110457166	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr8:110457166G>T	ENST00000378402.5	+	38	5172	c.5068G>T	c.(5068-5070)Ggt>Tgt	p.G1690C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1690	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCTTCTGCAGGTGTAAAAGT	0.443000										HNSCC(38;0.096)			7	162					8.12818e-05	8.4726e-05	1	1	0
RAPGEF1	2889	broad.mit.edu	37	9	134501394	134501394	+	Silent	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr9:134501394G>C	ENST00000372195.1	-	10	1860	c.1617C>G	c.(1615-1617)gtC>gtG	p.V539V	RAPGEF1_ENST00000372189.3_Silent_p.V522V|RAPGEF1_ENST00000372190.3_Silent_p.V540V			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	522					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCACAAATTCGACAGGGGCTG	0.542000													8	40					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93285476	93285476	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:93285476G>C	ENST00000322349.8	-	2	310	c.46C>G	c.(46-48)Caa>Gaa	p.Q16E	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	16					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCAGAACCTTGAGAGCCAACT	0.353000													5	133					0	0	1	0	0
PSMB10	5699	broad.mit.edu	37	16	67970132	67970132	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr16:67970132G>A	ENST00000358514.4	-	3	565	c.228C>T	c.(226-228)atC>atT	p.I76I		NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		TTTTGGGGGCGATGAAGTGGA	0.627000													14	146					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90642171	90642171	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:90642171C>T	ENST00000257749.4	-	9	3189	c.2482G>A	c.(2482-2484)Gat>Aat	p.D828N	BACH2_ENST00000343122.3_Missense_Mutation_p.D828N|BACH2_ENST00000537989.1_Missense_Mutation_p.D828N	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	828						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTACACTTATCAGTCATTTCC	0.542000													31	304					0	0	1	0	0
MAP4K5	11183	broad.mit.edu	37	14	50911764	50911764	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr14:50911764G>C	ENST00000013125.4	-	18	1652	c.1334C>G	c.(1333-1335)tCt>tGt	p.S445C		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	445					activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					CATACCAATAGAAGAAGTCTC	0.418000													9	48					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215901489	215901489	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:215901489C>T	ENST00000366943.2	-	61	12335	c.11949G>A	c.(11947-11949)ttG>ttA	p.L3983L	USH2A_ENST00000307340.3_Silent_p.L3983L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3983	Fibronectin type-III 25.				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)		TTGTCCAATTCAACAGAACTG	0.498000										HNSCC(13;0.011)			4	139					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144759951	144759951	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:144759951G>A	ENST00000367545.3	+	11	1312	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	438	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACACTCACAGAGGAGCGCAT	0.463000													6	56					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170047	90170047	+	Silent	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr4:90170047T>C	ENST00000609438.1	-	2	1733	c.1215A>G	c.(1213-1215)caA>caG	p.Q405Q	GPRIN3_ENST00000333209.4_Silent_p.Q405Q	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TATTTTCCCGTTGGAAAGCTG	0.527000													8	137					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17902480	17902480	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:17902480G>C	ENST00000448223.2	-	10	1044	c.775C>G	c.(775-777)Caa>Gaa	p.Q259E	SMC6_ENST00000381272.4_Missense_Mutation_p.Q285E|SMC6_ENST00000351948.4_Missense_Mutation_p.Q259E|SMC6_ENST00000402989.1_Missense_Mutation_p.Q259E	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	259					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCAATACTTTGAAAACGTTCC	0.343000													5	92					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46977694	46977694	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:46977694C>T	ENST00000371253.2	-	11	1692	c.1477G>A	c.(1477-1479)Gtt>Att	p.V493I	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.V296I	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	493					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTTTTGGAAACGGGTAGAATG	0.413000													12	123					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161596035	161596035	+	Silent	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:161596035A>T	ENST00000294800.3	-	4	750	c.477T>A	c.(475-477)atT>atA	p.I159I	FCGR3B_ENST00000367964.2_Silent_p.I159I|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Silent_p.I195I	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	159	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGCTTTTGGAATGTGGAAGT	0.438000													6	54					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16641730	16641730	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:16641730G>A	ENST00000375592.3	-	2	400	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	62	F-box.									autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TACGGTGAGAGAAAGGACAGG	0.463000													16	87					0	0	1	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75807384	75807384	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:75807384T>C	ENST00000550916.1	+	3	534	c.487T>C	c.(487-489)Tgg>Cgg	p.W163R	GLIPR1L2_ENST00000435775.1_Intron|GLIPR1L2_ENST00000547164.1_Intron|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.W163R|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.W98R|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.W56R	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	163						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TTAGCTTGTTTGGGACCACTC	0.294000													10	203					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58846430	58846430	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:58846430A>T	ENST00000329665.4	+	2	409	c.262A>T	c.(262-264)Ata>Tta	p.I88L		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	88	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CAAGGAGCAGATACTGGAGCT	0.662000													5	61					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71802308	71802308	+	Silent	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chrX:71802308T>C	ENST00000373545.3	-	31	3750	c.3312A>G	c.(3310-3312)ggA>ggG	p.G1104G	PHKA1_ENST00000541944.1_Silent_p.G1074G|PHKA1_ENST00000373539.3_Silent_p.G1163G|PHKA1_ENST00000373542.4_Silent_p.G1146G|PHKA1_ENST00000339490.3_Silent_p.G1133G			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1146					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CAATGATGCTTCCGATGCTAT	0.433000													4	42					0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	21201467	21201467	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:21201467A>C	ENST00000274695.4	+	15	1677	c.1510A>C	c.(1510-1512)Aaa>Caa	p.K504Q	CDKAL1_ENST00000378624.4_Missense_Mutation_p.K413Q|CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000378610.1_Missense_Mutation_p.K504Q	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	504					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CTCCATCAGCAAACCGCTAGC	0.473000													4	135					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	34					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169159	32169159	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:32169159C>T	ENST00000375023.3	-	22	4012	c.3874G>A	c.(3874-3876)Gag>Aag	p.E1292K		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1292					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGCCCCCACTCTGGGTCCCCA	0.637000													4	34					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24494686	24494686	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:24494686C>T	ENST00000355123.4	-	19	2649	c.2206G>A	c.(2206-2208)Gag>Aag	p.E736K	ITSN2_ENST00000361999.3_Missense_Mutation_p.E709K|ITSN2_ENST00000406921.3_Missense_Mutation_p.E736K	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	736					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					tgtttctcctcagctttccgt	0.353000													9	112					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27892155	27892155	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:27892155G>A	ENST00000326019.6	+	5	1528	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	416						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					ACTGGTGGCTGAGGCCATTCA	0.438000													25	258					0	0	1	0	0
MRPL22	29093	broad.mit.edu	37	5	154346277	154346277	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:154346277G>A	ENST00000523037.1	+	7	482	c.441G>A	c.(439-441)ctG>ctA	p.L147L	MRPL22_ENST00000439747.3_Silent_p.L173L|MRPL22_ENST00000518364.1_3'UTR|MRPL22_ENST00000265229.8_Silent_p.L67L|MRPL22_ENST00000522038.1_Silent_p.L153L	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	147					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCAGTGCCTGAAACGCATCC	0.493000													6	101					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348136	10348136	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:10348136T>A	ENST00000255381.2	-	38	5657	c.5547A>T	c.(5545-5547)agA>agT	p.R1849S	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1849					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTTCACTCTTCTCTCATGTT	0.423000													8	108					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95571561	95571561	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr14:95571561G>C	ENST00000526495.1	-	22	3407	c.3116C>G	c.(3115-3117)gCt>gGt	p.A1039G	DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000393063.1_Missense_Mutation_p.A1039G|DICER1_ENST00000343455.3_Missense_Mutation_p.A1039G|DICER1_ENST00000541352.1_Missense_Mutation_p.A1039G|DICER1_ENST00000527414.1_Missense_Mutation_p.A1039G			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1039	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGGATGTATAGCACAGAGTTC	0.413000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				10	152					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13230890	13230890	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:13230890G>C	ENST00000378694.1	+	9	1300	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	MCM10_ENST00000378714.3_Missense_Mutation_p.E409Q|MCM10_ENST00000484800.2_Missense_Mutation_p.E410Q			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	410	Zinc finger-like.				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GCGTGACTGTGAGTACTGTCA	0.542000													15	303					0	0	1	0	0
ARL13B	200894	broad.mit.edu	37	3	93722607	93722607	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:93722607C>T	ENST00000394222.3	+	3	510	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.R79W|ARL13B_ENST00000535334.1_5'UTR|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000303097.7_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	79			R -> Q (in JBTS8; reduces binding to GTP).				GTP binding	p.R79R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AATAAGAATTCGGGGAATCTG	0.398000													19	105					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725327	106725327	+	RNA	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr14:106725327A>G	ENST00000390609.2	-	0	303																											AGTATGTGCTACCACCACTAC	0.557000													22	621					0	0	1	0	0
MAPK8	5599	broad.mit.edu	37	10	49634093	49634093	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:49634093C>G	ENST00000374189.1	+	8	1032	c.851C>G	c.(850-852)tCa>tGa	p.S284*	MAPK8_ENST00000374182.3_Nonsense_Mutation_p.S284*|MAPK8_ENST00000360332.3_Nonsense_Mutation_p.S284*|MAPK8_ENST00000395611.3_Nonsense_Mutation_p.S208*			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	284	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CCAGCTGACTCAGAACACAAC	0.368000													7	132					0	0	1	0	0
IL33	90865	broad.mit.edu	37	9	6256016	6256016	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr9:6256016C>T	ENST00000381434.3	+	7	674	c.661C>T	c.(661-663)Cat>Tat	p.H221Y	IL33_ENST00000456383.2_Missense_Mutation_p.H179Y|IL33_ENST00000417746.2_Missense_Mutation_p.H95Y	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	221					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CTTTGTCCTTCATAATATGCA	0.408000													6	86					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110466036	110466036	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:110466036G>C	ENST00000329608.6	+	6	1184	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	CSF1_ENST00000344188.5_Missense_Mutation_p.E265Q|CSF1_ENST00000369802.3_Missense_Mutation_p.E265Q|CSF1_ENST00000369801.1_Missense_Mutation_p.E265Q|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	265					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGAGCCGCCAGAGACCCCAGT	0.637000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	78					0	0	1	0	0
PYGO1	26108	broad.mit.edu	37	15	55841140	55841140	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr15:55841140G>A	ENST00000302000.6	-	2	197	c.103C>T	c.(103-105)Cca>Tca	p.P35S	PYGO1_ENST00000563719.1_Missense_Mutation_p.P35S	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	35					Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTCTTATCTGGGCTTCCTAGT	0.373000													5	75					0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146046248	146046248	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr4:146046248A>G	ENST00000296577.4	+	17	2262	c.1747A>G	c.(1747-1749)Att>Gtt	p.I583V	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	583					interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ACTTAATTCAATTAAGGTATG	0.328000													3	53					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12061880	12061880	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:12061880A>T	ENST00000235329.5	+	10	1347	c.1025A>T	c.(1024-1026)gAg>gTg	p.E342V	MFN2_ENST00000444836.1_Missense_Mutation_p.E342V	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	342					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGAATTTTGAGAGGAGATTT	0.507000											OREG0013107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	241					0	0	1	0	0
YIPF3	25844	broad.mit.edu	37	6	43480030	43480030	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:43480030G>A	ENST00000372422.2	-	9	1110	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	YIPF3_ENST00000506469.1_Missense_Mutation_p.P316S	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	310					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGGATGTTGGGGCCCTCCAGT	0.607000													5	101					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151884372	151884372	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:151884372G>A	ENST00000355193.2	-	33	5201	c.4983C>T	c.(4981-4983)ttC>ttT	p.F1661F	KMT2C_ENST00000262189.6_Silent_p.F1661F					lysine (K)-specific methyltransferase 2C																		TTAAGTTGGGGAAATTAATAT	0.393000													6	104					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12939549	12939549	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chrX:12939549G>C	ENST00000218032.6	+	2	2477	c.2390G>C	c.(2389-2391)aGa>aCa	p.R797T	TLR8_ENST00000311912.5_Missense_Mutation_p.R815T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	797	LRRCT.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAAATTCCCAGACTGGTAGAT	0.433000													4	89					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45221772	45221772	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:45221772G>A	ENST00000372217.1	+	9	1029	c.678G>A	c.(676-678)gtG>gtA	p.V226V	KIF2C_ENST00000372218.4_Silent_p.V239V|KIF2C_ENST00000372224.4_Silent_p.V280V|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372222.3_Silent_p.V167V			Q99661	KIF2C_HUMAN	kinesin family member 2C	280	Globular (Potential).|Negative regulator of microtubule-binding (By similarity).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					AAATTGATGTGATTTCCATTC	0.448000													6	135					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53776633	53776633	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:53776633C>G	ENST00000426431.2	+	3	941	c.881C>G	c.(880-882)tCa>tGa	p.S294*	SP1_ENST00000327443.4_Nonsense_Mutation_p.S301*	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	301	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CCTGTCACCTCAGGGACTACC	0.537000													6	112					0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88144674	88144674	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:88144674A>G	ENST00000507897.1	+	11	1480	c.1397A>G	c.(1396-1398)tAt>tGt	p.Y466C	C6ORF165_ENST00000369562.4_Missense_Mutation_p.Y466C			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	466										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CCTGAACATTATATTGACATA	0.279000													8	105					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250647	140250647	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr5:140250647C>T	ENST00000398640.2	+	1	1959	c.1959C>T	c.(1957-1959)caC>caT	p.H653H	PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGGATCACGGTGAGCCGG	0.677000													6	100					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62062712	62062712	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr20:62062712G>C	ENST00000359689.1	-	9	1305	c.1129C>G	c.(1129-1131)Caa>Gaa	p.Q377E	KCNQ2_ENST00000359125.2_Missense_Mutation_p.Q377E|KCNQ2_ENST00000354587.3_Intron|KCNQ2_ENST00000370224.1_Intron|KCNQ2_ENST00000344462.4_Missense_Mutation_p.Q377E|KCNQ2_ENST00000357249.2_Missense_Mutation_p.Q377E|KCNQ2_ENST00000360480.3_Intron			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	377					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.Q377E(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCGTAGGTTTGAGTTTGCGAA	0.448000													6	102					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76781642	76781642	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:76781642G>A	ENST00000287239.4	+	16	3514	c.3025G>A	c.(3025-3027)Gag>Aag	p.E1009K	KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.E717K|KAT6B_ENST00000372724.1_Missense_Mutation_p.E717K|KAT6B_ENST00000372711.1_Missense_Mutation_p.E826K|KAT6B_ENST00000372714.1_Missense_Mutation_p.E717K|RP11-77G23.2_ENST00000413431.1_RNA	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1009					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CACTTAGGCTGAGCGGCTAAT	0.493000											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	33					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151403213	151403213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:151403213G>A	ENST00000271715.2	-	4	702	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	POGZ_ENST00000531094.1_Nonsense_Mutation_p.Q77*|POGZ_ENST00000392723.1_Nonsense_Mutation_p.Q77*|POGZ_ENST00000361398.3_Nonsense_Mutation_p.Q77*|POGZ_ENST00000368863.2_Intron|POGZ_ENST00000409503.1_Nonsense_Mutation_p.Q130*|POGZ_ENST00000540984.1_5'UTR|POGZ_ENST00000491586.1_Nonsense_Mutation_p.Q77*	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	130					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCATGACCTGAACAGGCCTC	0.507000													6	196					0	0	1	0	0
SPDYE1	285955	broad.mit.edu	37	7	44047099	44047099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:44047099C>T	ENST00000258704.3	+	5	1002	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA|AC004951.6_ENST00000447643.1_lincRNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	289	Arg-rich.									endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GAACCGCTCTCAGATAGTCCT	0.587000													22	191					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185731218	185731218	+	Silent	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:185731218A>T	ENST00000302277.6	+	2	828	c.234A>T	c.(232-234)tcA>tcT	p.S78S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	78						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACATTAATTCATATGACCATG	0.363000													3	61					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274891	29274891	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:29274891C>T	ENST00000377160.2	+	1	489	c.425C>T	c.(424-426)gCa>gTa	p.A142V		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TGTAGGCATGCAGTGATAGCT	0.493000													4	137					0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2285351	2285351	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr16:2285351C>T	ENST00000301727.4	+	14	2181	c.2133C>T	c.(2131-2133)atC>atT	p.I711I	E4F1_ENST00000565090.1_Silent_p.I534I|E4F1_ENST00000564139.1_3'UTR	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	711					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CCGACACCATCACCATCGCCA	0.687000													6	45					0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4634707	4634707	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:4634707T>A	ENST00000261250.3	-	5	636	c.549A>T	c.(547-549)aaA>aaT	p.K183N	C12orf4_ENST00000545746.1_Missense_Mutation_p.K183N	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	183										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CTGTCAGTGATTTTCCCAATT	0.353000													10	101					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10122810	10122810	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:10122810C>G	ENST00000287647.3	+	31	3096	c.3003C>G	c.(3001-3003)ttC>ttG	p.F1001L	FANCD2_ENST00000383806.1_Missense_Mutation_p.F1001L|FANCD2_ENST00000419585.1_Missense_Mutation_p.F1001L|FANCD2_ENST00000383807.1_Missense_Mutation_p.F1001L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1001					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATATTGGATTCTCACATCTCC	0.408000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	133					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49932628	49932628	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:49932628G>A	ENST00000296474.3	-	14	3270	c.3243C>T	c.(3241-3243)gtC>gtT	p.V1081V	MST1R_ENST00000344206.4_Silent_p.V1032V	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1081					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CACTGTGGGTGACCACCCGCT	0.607000													18	384					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129601240	129601240	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:129601240G>T	ENST00000421865.2	+	18	2534	c.2485G>T	c.(2485-2487)Gga>Tga	p.G829*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	829	Laminin EGF-like 7.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCGGAGTCTTGGATTGATCTG	0.453000													5	56					0.00116845	0.00120016	1	1	0
RBM17	84991	broad.mit.edu	37	10	6156039	6156039	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:6156039G>C	ENST00000446108.1	+	10	1602	c.958G>C	c.(958-960)Gaa>Caa	p.E320Q	RBM17_ENST00000379888.4_Missense_Mutation_p.E320Q|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	320	RRM.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AGAGGTGGATGAAGACTTGGA	0.323000													3	44					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225379487	225379487	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:225379487G>T	ENST00000264414.4	-	4	719	c.381C>A	c.(379-381)gaC>gaA	p.D127E	CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409777.1_Missense_Mutation_p.D103E|CUL3_ENST00000344951.4_Missense_Mutation_p.D61E|CUL3_ENST00000409096.1_Missense_Mutation_p.D103E	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	127					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CATACACACGGTCCTACAGTT	0.313000													4	71					0.150653	0.15096	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2807793	2807793	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr8:2807793A>T	ENST00000602557.1	-	68	10832	c.10277T>A	c.(10276-10278)gTa>gAa	p.V3426E	CSMD1_ENST00000542608.1_Missense_Mutation_p.V3248E|CSMD1_ENST00000520002.1_Missense_Mutation_p.V3426E|CSMD1_ENST00000602723.1_Missense_Mutation_p.V3249E|CSMD1_ENST00000400186.3_Missense_Mutation_p.V3249E|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3425E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3426						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)		GAACTTGCTTACAAAAATATC	0.413000													7	137					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50006080	50006080	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:50006080G>C	ENST00000443081.1	+	3	1745	c.826G>C	c.(826-828)Gat>Cat	p.D276H	RBM6_ENST00000266022.4_Missense_Mutation_p.D408H|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron			P78332	RBM6_HUMAN	RNA binding motif protein 6	408					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GGAGTACCGTGATGTGGATCA	0.522000													8	59					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343481	130343481	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:130343481G>A	ENST00000299164.2	+	8	2618	c.2618G>A	c.(2617-2619)cGc>cAc	p.R873H		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	873	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCCGGGCAGCGCACGGTCCCT	0.746000													5	39					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956138	42956138	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:42956138C>G	ENST00000541208.1	+	5	942	c.573C>G	c.(571-573)ttC>ttG	p.F191L	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.F191L|ZNF662_ENST00000328199.6_Missense_Mutation_p.F217L			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		AGCAAATATTCTATATATGTG	0.363000													7	71					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55598902	55598902	+	Missense_Mutation	SNP	G	G	A	rs147330720		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:55598902G>A	ENST00000201647.6	+	20	2148	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	EPS8L1_ENST00000588359.1_Missense_Mutation_p.E384K|EPS8L1_ENST00000586329.1_Missense_Mutation_p.E523K|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E634K|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E571K	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	698						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCAGGACAAAGAGAAAGTGTC	0.597000													7	103					0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254056	30254056	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chrX:30254056G>A	ENST00000361644.2	+	5	752	c.15G>A	c.(13-15)caG>caA	p.Q5Q		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	5										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CTCGGGGTCAGAAGAGTACGC	0.552000													3	26					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21946028	21946028	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:21946028C>T	ENST00000406877.3	-	6	1079	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.R233Q|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R221Q	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	267					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GTTCATACGCCGCGTGATCTG	0.532000													8	267					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166237240	166237240	+	Splice_Site	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:166237240A>T	ENST00000357398.3	+	24	4736		c.e24+1		SCN2A_ENST00000375437.2_Splice_Site|SCN2A_ENST00000375427.2_Splice_Site|SCN2A_ENST00000283256.6_Splice_Site			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit						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)	GAAAAAGAAGATAAGTATATT	0.274000													4	92					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56565497	56565497	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:56565497C>T	ENST00000323777.3	-	1	248	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	47						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCTCGGCCTCGAAGAGCGGC	0.726000													6	24					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113380	209113380	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr2:209113380C>G	ENST00000415913.1	-	4	508	c.127G>C	c.(127-129)Gat>Cat	p.D43H	IDH1_ENST00000446179.1_Missense_Mutation_p.D43H|IDH1_ENST00000345146.2_Missense_Mutation_p.D43H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	43					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATGCCTAAATCATAGCTTGAA	0.388000			Mis		gliobastoma								5	95					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286119	48286119	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:48286119C>T	ENST00000320048.1	+	1	707	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AAGGCCCTCTCCACCTGTGCC	0.522000													4	84					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457967	45457967	+	RNA	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr12:45457967T>A	ENST00000548424.1	+	0	448																											CAGCTTTTACTGTGCTGTCAC	0.438000													4	69					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11308601	11308601	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:11308601G>C	ENST00000379261.4	+	6	650	c.558G>C	c.(556-558)caG>caC	p.Q186H	CELF2_ENST00000354897.3_Missense_Mutation_p.Q162H|CELF2_ENST00000416382.2_Missense_Mutation_p.Q186H|CELF2_ENST00000537122.1_Missense_Mutation_p.Q75H|CELF2_ENST00000427450.1_Missense_Mutation_p.Q162H|CELF2_ENST00000608830.1_Missense_Mutation_p.Q162H|CELF2_ENST00000609692.1_Missense_Mutation_p.Q162H|CELF2_ENST00000417956.2_Missense_Mutation_p.Q162H|CELF2_ENST00000542579.1_Missense_Mutation_p.Q193H|CELF2_ENST00000354440.2_Missense_Mutation_p.Q162H|CELF2_ENST00000315874.4_Missense_Mutation_p.Q162H|CELF2_ENST00000399850.3_Missense_Mutation_p.Q162H|CELF2_ENST00000450189.1_Missense_Mutation_p.Q193H	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	186	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CAATGGCACAGAATGCAATCA	0.448000													4	64					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23731087	23731087	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr9:23731087T>C	ENST00000397312.2	-	3	540	c.266A>G	c.(265-267)gAc>gGc	p.D89G	ELAVL2_ENST00000380117.1_Missense_Mutation_p.D89G|ELAVL2_ENST00000223951.6_Missense_Mutation_p.D89G|ELAVL2_ENST00000544538.1_Missense_Mutation_p.D89G|ELAVL2_ENST00000380110.4_Missense_Mutation_p.D118G	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	89	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		ATCCTTGGGGTCAATGTAGTT	0.373000													4	61					0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15234050	15234050	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:15234050C>T	ENST00000263383.3	-	4	481	c.342G>A	c.(340-342)acG>acA	p.T114T	ILVBL_ENST00000534378.1_Silent_p.T7T|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	114						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CCACGCCCACCGTCCCTGGAA	0.597000													7	74					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968032	4968032	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chrY:4968032A>T	ENST00000333703.4	+	5	2893	c.2380A>T	c.(2380-2382)Aat>Tat	p.N794Y	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.N805Y|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.N805Y	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	805	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCTGTTCGTGAATGAGTCAGT	0.428000													11	67					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112723668	112723668	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:112723668A>G	ENST00000297146.3	-	3	1712	c.1109T>C	c.(1108-1110)aTa>aCa	p.I370T	GPR85_ENST00000424100.1_Missense_Mutation_p.I370T|GPR85_ENST00000501255.2_Missense_Mutation_p.I370T|GPR85_ENST00000449591.1_Missense_Mutation_p.I370T	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85							integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GCTCCCTCATATAACACAGTA	0.423000													10	139					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74631777	74631777	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr18:74631777C>T	ENST00000253159.8	+	20	3512	c.3314C>T	c.(3313-3315)tCa>tTa	p.S1105L	ZNF236_ENST00000320610.9_Missense_Mutation_p.S1107L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1105					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGAAATGCATCACGGAAGTCT	0.478000													7	158					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19556878	19556878	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:19556878G>A	ENST00000328405.2	+	14	2766	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	834						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTTTGGCTCTGAACGAATCAG	0.358000													13	39					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37866662	37866662	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr17:37866662G>T	ENST00000406381.2	+	9	1249	c.739G>T	c.(739-741)Gac>Tac	p.D247Y	ERBB2_ENST00000584450.1_Missense_Mutation_p.D277Y|ERBB2_ENST00000540042.1_Missense_Mutation_p.D247Y|ERBB2_ENST00000578199.1_Missense_Mutation_p.D247Y|ERBB2_ENST00000584601.1_Missense_Mutation_p.D247Y|ERBB2_ENST00000540147.1_Missense_Mutation_p.D247Y|ERBB2_ENST00000269571.5_Missense_Mutation_p.D277Y|ERBB2_ENST00000541774.1_Missense_Mutation_p.D262Y|ERBB2_ENST00000445658.2_Intron	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	277					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTACAACACAGACACGTTTGA	0.592000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			6	64					8.12818e-05	8.4726e-05	1	1	0
PALB2	79728	broad.mit.edu	37	16	23647423	23647423	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr16:23647423C>T	ENST00000261584.4	-	4	596	c.444G>A	c.(442-444)aaG>aaA	p.K148K		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	148	Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCTGCTGCTTCTTTCTTCTGC	0.443000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					4	86					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34068019	34068019	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:34068019G>A	ENST00000373381.4	-	43	6836	c.6660C>T	c.(6658-6660)ctC>ctT	p.L2220L	CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373377.1_Silent_p.L319L|CSMD2_ENST00000373388.2_Silent_p.L319L|CSMD2_ENST00000373380.1_Silent_p.L1093L	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2222	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCTGAGGTTGAGGCGGACGC	0.592000													5	68					0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130743646	130743646	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:130743646T>G	ENST00000264992.3	-	3	946	c.505A>C	c.(505-507)Aaa>Caa	p.K169Q	ASTE1_ENST00000514044.1_Missense_Mutation_p.K169Q	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	169					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						AACCCAGTTTTCAGGTCAAAA	0.408000													3	75					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456194	5456194	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:5456194C>T	ENST00000222033.4	+	1	769	c.692C>T	c.(691-693)tCg>tTg	p.S231L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	231						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TGCAACAAGTCGGCCCACGCG	0.687000													10	93					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201694	248201694	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:248201694T>A	ENST00000366479.2	+	1	221	c.125T>A	c.(124-126)cTa>cAa	p.L42Q	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTGGAAATCTATCCATGATT	0.393000													18	282					0	0	1	0	0
CALU	813	broad.mit.edu	37	7	128399894	128399894	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:128399894G>C	ENST00000542996.2	+	6	1598	c.655G>C	c.(655-657)Gaa>Caa	p.E219Q	CALU_ENST00000535623.1_3'UTR|CALU_ENST00000249364.4_Missense_Mutation_p.E211Q|CALU_ENST00000479257.1_Missense_Mutation_p.E219Q|CALU_ENST00000538546.1_Missense_Mutation_p.E60Q|CALU_ENST00000449187.2_Missense_Mutation_p.E211Q|CALU_ENST00000535011.2_Missense_Mutation_p.E211Q	NM_001199672.1	NP_001186601.1	O43852	CALU_HUMAN	calumenin	211	EF-hand 4.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						CATTGATCTAGAAGAGTATAT	0.378000													5	163					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92797117	92797117	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr13:92797117G>T	ENST00000377067.3	+	7	1808	c.1436G>T	c.(1435-1437)tGg>tTg	p.W479L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	479						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CCTGACAAGTGGGAACTTCTT	0.433000													5	100					1.23904e-05	1.30537e-05	1	1	0
MYO3A	53904	broad.mit.edu	37	10	26463232	26463232	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr10:26463232G>C	ENST00000265944.5	+	30	4205	c.4039G>C	c.(4039-4041)Gat>Cat	p.D1347H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1347	IQ 3.		D -> H (in a renal clear cell carcinoma sample; somatic mutation).		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	p.D1347H(1)		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						GGAGGAAGAAGATAAAGCAGC	0.498000													7	70					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79294083	79294083	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr15:79294083C>G	ENST00000419573.3	-	17	2818	c.2544G>C	c.(2542-2544)caG>caC	p.Q848H	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.Q832H|RASGRF1_ENST00000394745.3_Missense_Mutation_p.Q64H	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	850					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CATCATCACTCTGGTTTTGAT	0.318000													5	144					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12384279	12384279	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr19:12384279T>C	ENST00000356109.5	-	5	1053	c.935A>G	c.(934-936)gAt>gGt	p.D312G	ZNF44_ENST00000355684.5_Missense_Mutation_p.D264G	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TGAACTGTAATCAGGGAAGGC	0.408000													8	237					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101378760	101378760	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr3:101378760G>A	ENST00000312938.4	-	6	2493	c.1913C>T	c.(1912-1914)tCg>tTg	p.S638L		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGATGTTCCCGATGCTTCATT	0.413000													13	114					0	0	1	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36248708	36248708	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:36248708C>T	ENST00000315571.5	+	5	549	c.528C>T	c.(526-528)atC>atT	p.I176I	LDLRAD3_ENST00000528989.1_Silent_p.I127I|LDLRAD3_ENST00000529759.1_3'UTR|LDLRAD3_ENST00000524419.1_Silent_p.I166I	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	176						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCTATGCCATCATCGGCAGCT	0.557000													6	143					0	0	1	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150569923	150569923	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr6:150569923G>C	ENST00000361131.4	+	4	582	c.465G>C	c.(463-465)agG>agC	p.R155S		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	155					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		GAGGCATGAGGAAACTGAGCC	0.403000													4	55					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123857286	123857286	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr4:123857286C>G	ENST00000274008.4	+	7	1378	c.1309C>G	c.(1309-1311)Cag>Gag	p.Q437E	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AAAGTTACGTCAGATATTTGC	0.303000													6	188					0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35871662	35871662	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr14:35871662C>T	ENST00000216797.5	-	5	945	c.844G>A	c.(844-846)Gag>Aag	p.E282K	NFKBIA_ENST00000557389.1_Missense_Mutation_p.E192K|NFKBIA_ENST00000557140.1_Missense_Mutation_p.E239K|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	282					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|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	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		TCCTCACTCTCTGGCAGCATC	0.562000													7	105					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380325	147380325	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:147380325G>C	ENST00000240986.4	+	2	296	c.243G>C	c.(241-243)caG>caC	p.Q81H	GJA8_ENST00000369235.1_Missense_Mutation_p.Q81H	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	81					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGTGCTGCAGATCATCTTCG	0.622000													10	113					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801586	67801586	+	Silent	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr13:67801586T>C	ENST00000544246.1	-	2	1678	c.987A>G	c.(985-987)acA>acG	p.T329T	PCDH9_ENST00000377861.3_Silent_p.T329T|PCDH9_ENST00000377865.2_Silent_p.T329T|PCDH9_ENST00000456367.1_Silent_p.T329T|PCDH9_ENST00000328454.5_Silent_p.T329T	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	329	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAGCCAGCACTGTCACTTTGT	0.463000													7	125					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552078	100552078	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr7:100552078T>C	ENST00000319509.7	+	1	829	c.829T>C	c.(829-831)Tcc>Ccc	p.S277P						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AAATGTGGGCTCCGCTTCTAT	0.473000													11	442					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12336509	12336509	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:12336509T>C	ENST00000358136.3	+	19	2994	c.2864T>C	c.(2863-2865)cTc>cCc	p.L955P	VPS13D_ENST00000356315.4_Missense_Mutation_p.L955P	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	955					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCGCAGCTCCTCCTGGCGGAA	0.502000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	76					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67340468	67340468	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:67340468C>G	ENST00000371026.3	-	5	851	c.796G>C	c.(796-798)Gta>Cta	p.V266L	WDR78_ENST00000371023.3_Missense_Mutation_p.V266L|WDR78_ENST00000371022.3_Missense_Mutation_p.V266L|WDR78_ENST00000431318.1_Missense_Mutation_p.V12L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	266										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACATACGTTACTTTCTCAGCT	0.403000													4	125					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053228	238053228	+	Silent	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:238053228G>T	ENST00000366570.4	-	3	497	c.339C>A	c.(337-339)ggC>ggA	p.G113G	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	113					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTTCAGCCGCGCCTGCTCCTT	0.562000													5	222					0.184627	0.184627	1	1	0
ERCC8	1161	broad.mit.edu	37	5	60186872	60186872	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:60186872C>T	ENST00000426742.2	-	11	1145	c.711G>A	c.(709-711)ttG>ttA	p.L237L	ERCC8_ENST00000265038.5_Silent_p.L295L|ERCC8_ENST00000543101.1_Silent_p.L142L|ERCC8_ENST00000462279.1_5'UTR			Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 8	295					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				CAGTGAATTTCAATCCTTTTT	0.328000													8	100					0	0	1	0	0
MRPS12	6183	broad.mit.edu	37	19	39422995	39422995	+	Silent	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:39422995C>G	ENST00000407800.2	+	2	413	c.72C>G	c.(70-72)ctC>ctG	p.L24L	MRPS12_ENST00000402029.3_Silent_p.L24L|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_Silent_p.L24L|SARS2_ENST00000448145.2_Intron	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	24					translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TTCCCCGGCTCTGGGCTACCT	0.622000													10	88					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46314558	46314558	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr4:46314558T>G	ENST00000510861.1	-	5	604	c.431A>C	c.(430-432)aAg>aCg	p.K144T	GABRA2_ENST00000507069.1_Missense_Mutation_p.K144T|GABRA2_ENST00000356504.1_Missense_Mutation_p.K144T|GABRA2_ENST00000540012.1_Missense_Mutation_p.K89T|GABRA2_ENST00000514090.1_Missense_Mutation_p.K144T|GABRA2_ENST00000515082.1_Missense_Mutation_p.K144T|GABRA2_ENST00000381620.4_Missense_Mutation_p.K144T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	144					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCGAAGCAACTTATTTGGCAT	0.338000													6	139					0	0	1	0	0
ANO6	196527	broad.mit.edu	37	12	45803231	45803231	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:45803231A>G	ENST00000320560.8	+	16	2174	c.1972A>G	c.(1972-1974)Atg>Gtg	p.M658V	ANO6_ENST00000435642.1_Missense_Mutation_p.M658V|ANO6_ENST00000425752.2_Missense_Mutation_p.M658V|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.M679V|ANO6_ENST00000441606.2_Missense_Mutation_p.M640V	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	658					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.M658V(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCTGCAGCCTATGGGCAAACT	0.378000													10	155					0	0	1	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235618938	235618938	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:235618938C>A	ENST00000366600.3	-	9	1312	c.1084G>T	c.(1084-1086)Gac>Tac	p.D362Y		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	362					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GCTTCGAGGTCTATGTAACAG	0.413000													13	69					1.61879e-10	1.7459e-10	1	1	0
PER1	5187	broad.mit.edu	37	17	8044597	8044597	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:8044597G>C	ENST00000317276.4	-	23	3899	c.3662C>G	c.(3661-3663)tCa>tGa	p.S1221*	PER1_ENST00000581082.1_Nonsense_Mutation_p.S1198*	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1221	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATCCAGCTCTGAGAAGAGTGG	0.627000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					7	94					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230301	56230301	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:56230301T>C	ENST00000279791.1	-	1	576	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GTGATTTCTTTGATGTGCACT	0.423000													4	59					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56638175	56638175	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:56638175C>T	ENST00000267116.7	-	25	2888	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	ANKRD52_ENST00000548241.1_5'UTR	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	923							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TTCTTGTTCTCATCCAACACA	0.507000													5	45					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4725372	4725372	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:4725372G>C	ENST00000302640.8	+	27	3693	c.3343G>C	c.(3343-3345)Gat>Cat	p.D1115H	ITPR1_ENST00000423119.2_Missense_Mutation_p.D1121H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.D1115H|ITPR1_ENST00000357086.4_Missense_Mutation_p.D1121H|ITPR1_ENST00000456211.2_Missense_Mutation_p.D1106H|ITPR1_ENST00000354582.6_Missense_Mutation_p.D1130H	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1130					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ACAAGACTTGGATCAACTGAG	0.463000													4	104					0	0	1	0	0
MRPS9	64965	broad.mit.edu	37	2	105665731	105665731	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:105665731G>C	ENST00000258455.3	+	2	348	c.238G>C	c.(238-240)Gag>Cag	p.E80Q		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	80					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCAGATTGAAGAGTTCAACAT	0.348000													4	110					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725251	106725251	+	RNA	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr14:106725251G>C	ENST00000390609.2	-	0	379																											CTGTTCATTTGCAGATACAGC	0.522000													7	645					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47856509	47856509	+	Silent	SNP	G	G	A	rs139215111		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:47856509G>A	ENST00000328771.4	+	2	571	c.222G>A	c.(220-222)aaG>aaA	p.K74K		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	74						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGAATCTCAAGACCTCCAGGA	0.537000													4	125					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201193807	201193807	+	Splice_Site	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:201193807G>T	ENST00000335211.4	+	21	10421	c.10291G>T	c.(10291-10293)Gcc>Tcc	p.A3431S	IGFN1_ENST00000295591.8_Intron	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTTTCTCAGGCCATGCCCAT	0.532000													6	37					5.9392e-07	6.37611e-07	1	1	0
JUN	3725	broad.mit.edu	37	1	59247951	59247951	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:59247951G>C	ENST00000371222.2	-	1	1834	c.792C>G	c.(790-792)atC>atG	p.I264M		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	264					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	p.I264M(1)		breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	TGGAGGCAGCGATGCGGTTCC	0.612000			A		sarcoma								6	77					0	0	1	0	0
ZNF587	84914	broad.mit.edu	37	19	58367546	58367546	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:58367546G>T	ENST00000339656.5	+	2	290	c.108G>T	c.(106-108)caG>caT	p.Q36H	ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.Q35H|ZNF587B_ENST00000316462.4_3'UTR|ZNF587_ENST00000419854.1_5'UTR|ZNF814_ENST00000597342.1_Intron|CTD-2583A14.10_ENST00000598031.1_Missense_Mutation_p.Q36H|ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q36H(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GTGAGGCTCAGAGGTGCTTGT	0.498000													12	107					0.000219431	0.000228738	1	1	0
SMAD3	4088	broad.mit.edu	37	15	67477081	67477081	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr15:67477081C>T	ENST00000327367.4	+	7	1198	c.888C>T	c.(886-888)ctC>ctT	p.L296L	SMAD3_ENST00000439724.3_Silent_p.L252L|SMAD3_ENST00000540846.2_Silent_p.L191L|SMAD3_ENST00000537194.2_Silent_p.L101L	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	296	MH2.|Sufficient for interaction with XPO4.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GCGTGCGGCTCTACTACATCG	0.587000													4	62					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59175901	59175901	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr15:59175901G>C	ENST00000380516.2	-	20	3007	c.2920C>G	c.(2920-2922)Caa>Gaa	p.Q974E	SLTM_ENST00000536328.1_Missense_Mutation_p.Q543E	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	974					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						CTAGGCCCTTGAGAGGGTGGA	0.507000													13	128					0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169437400	169437400	+	Silent	SNP	G	G	A	rs149313767		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:169437400G>A	ENST00000236137.5	-	5	1550	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	SLC19A2_ENST00000367804.4_Silent_p.L237L	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	438					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					CAATTAGAGTGAGCAGCGTCT	0.438000													13	82					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11898675	11898675	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:11898675G>A	ENST00000346436.6	+	22	2539	c.2487G>A	c.(2485-2487)acG>acA	p.T829T	CLCN6_ENST00000376496.3_Silent_p.T829T|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.T807T	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	829	CBS 2.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGTTCAGAACGATGGGCCTGC	0.617000											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	70					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168096396	168096396	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:168096396C>G	ENST00000409195.1	+	6	979	c.890C>G	c.(889-891)tCa>tGa	p.S297*	XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S75*|XIRP2_ENST00000409756.2_Nonsense_Mutation_p.S297*|XIRP2_ENST00000409728.1_Nonsense_Mutation_p.S330*|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S297*|XIRP2_ENST00000409605.1_Nonsense_Mutation_p.S75*|XIRP2_ENST00000409043.1_Nonsense_Mutation_p.S297*|XIRP2_ENST00000420519.1_Nonsense_Mutation_p.S330*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	122					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						GTTGGCACTTCAAGAAGCAGC	0.378000													5	78					0	0	1	0	0
ZNF587	84914	broad.mit.edu	37	19	58367498	58367498	+	Silent	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:58367498G>T	ENST00000339656.5	+	2	242	c.60G>T	c.(58-60)gtG>gtT	p.V20V	ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Silent_p.V19V|ZNF587B_ENST00000316462.4_3'UTR|ZNF587_ENST00000419854.1_5'UTR|ZNF814_ENST00000597342.1_Intron|CTD-2583A14.10_ENST00000598031.1_Silent_p.V20V|ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TTGAAGATGTGGCTGTGAACT	0.527000													7	157					0.00829132	0.00849133	1	1	0
PDIA4	9601	broad.mit.edu	37	7	148702312	148702312	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:148702312C>G	ENST00000286091.4	-	9	1675	c.1443G>C	c.(1441-1443)gaG>gaC	p.E481D		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	481					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TCTTCCCACTCTCGTCCAGGA	0.582000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	192					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155508040	155508040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr4:155508040G>A	ENST00000302053.3	-	5	619	c.541C>T	c.(541-543)Cga>Tga	p.R181*	FGA_ENST00000403106.3_Nonsense_Mutation_p.R181*	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	181					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CATGACCCTCGACAAGATCGG	0.403000													4	83					0	0	1	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39413828	39413828	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr22:39413828G>A	ENST00000361441.4	+	3	512	c.232G>A	c.(232-234)Gac>Aac	p.D78N	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C						DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					GTTCTGCGACGACATACTGTC	0.572000													7	213					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26507068	26507068	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:26507068C>T	ENST00000361530.6	+	2	322	c.177C>T	c.(175-177)ctC>ctT	p.L59L	CNKSR1_ENST00000374253.5_Silent_p.L59L|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	59	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGGAGCTCATCCTGGGCG	0.642000													9	60					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160819070	160819070	+	Silent	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:160819070C>G	ENST00000392145.1	+	2	516	c.489C>G	c.(487-489)ctC>ctG	p.L163L	SLC22A3_ENST00000275300.2_Silent_p.L163L			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	163						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TCCTGAACCTCGGCTTCCTGA	0.463000													4	124					0	0	1	0	0
SLC51A	200931	broad.mit.edu	37	3	195953840	195953840	+	Silent	SNP	G	G	T	rs145068718	byFrequency	TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:195953840G>T	ENST00000296327.5	+	3	347	c.138G>T	c.(136-138)ctG>ctT	p.L46L		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		CTCTAGCCCTGGGCCCTGTGG	0.592000													7	88					0.00198382	0.00204513	1	1	0
TUBA1B	10376	broad.mit.edu	37	12	49521941	49521941	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:49521941C>G	ENST00000336023.5	-	4	1250	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	386					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GCCCAGGCCTCAGCAATGGCT	0.577000													4	81					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115970461	115970461	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:115970461C>T	ENST00000251864.2	+	12	1659	c.1506C>T	c.(1504-1506)caC>caT	p.H502H	TDRD1_ENST00000369280.1_Silent_p.H502H|TDRD1_ENST00000369282.1_Silent_p.H502H|TDRD1_ENST00000422662.1_Silent_p.H163H|TDRD1_ENST00000369281.2_Silent_p.H502H	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	502					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGGTTGCCCACATTCAAACAC	0.383000													11	85					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112496	44112496	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:44112496C>G	ENST00000361807.3	+	5	1199	c.1005C>G	c.(1003-1005)ttC>ttG	p.F335L	ZNF485_ENST00000374435.3_Missense_Mutation_p.F335L|ZNF485_ENST00000374437.2_Missense_Mutation_p.F244L	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GAAAATCTTTCAGGTATAGCT	0.428000													11	83					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109854613	109854613	+	Silent	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:109854613T>C	ENST00000424296.2	-	28	3487	c.3411A>G	c.(3409-3411)ggA>ggG	p.G1137G	AK9_ENST00000355283.1_Silent_p.G216G|AK9_ENST00000341338.6_Silent_p.G216G	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		ATCCACGATCTCCCAAAAACT	0.358000													6	110					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588547	247588547	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:247588547C>G	ENST00000366497.2	+	4	2582	c.1802C>G	c.(1801-1803)tCt>tGt	p.S601C	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.S601C|NLRP3_ENST00000336119.3_Missense_Mutation_p.S601C|NLRP3_ENST00000391827.2_Missense_Mutation_p.S601C|NLRP3_ENST00000366496.2_Missense_Mutation_p.S601C|NLRP3_ENST00000391828.3_Missense_Mutation_p.S601C	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	601					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGCAAGATCTCTCAGCAAATC	0.443000													10	70					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560153	210560153	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:210560153G>A	ENST00000360351.4	+	7	3765	c.3259G>A	c.(3259-3261)Gag>Aag	p.E1087K	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1083K|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1087					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGCACCGCAGGAGGCAGATGC	0.488000													4	84					0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79255389	79255389	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:79255389A>T	ENST00000272324.5	+	6	699	c.515A>T	c.(514-516)aAg>aTg	p.K172M	REG3G_ENST00000409471.1_Missense_Mutation_p.K126M|REG3G_ENST00000393897.2_Missense_Mutation_p.K172M	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	172	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TATGTCTGCAAGTTCAAGGAC	0.483000													4	93					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185704088	185704088	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:185704088G>A	ENST00000271588.4	+	1	406	c.177G>A	c.(175-177)gtG>gtA	p.V59V	HMCN1_ENST00000367492.2_Silent_p.V59V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	59	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAGTTCAGGTGATTGAAGGGG	0.453000													5	101					0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3757700	3757700	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:3757700C>T	ENST00000252322.1	-	11	1594	c.1126G>A	c.(1126-1128)Ggt>Agt	p.G376S	EFCAB4B_ENST00000440314.2_Intron|EFCAB4B_ENST00000444507.1_Intron	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	376					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CAGTGCCCACCGACGCACCTT	0.597000													7	39					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475338	50475338	+	RNA	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:50475338C>G	ENST00000602139.1	+	0	1284									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						CAGCGCGTCTCTCTCAGCTTC	0.667000													6	41					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8620611	8620611	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:8620611G>A	ENST00000338257.8	-	2	340	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	25	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATCTGGGGAAGAAGCACCATG	0.647000													4	64					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94197621	94197621	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr13:94197621A>G	ENST00000377047.4	+	2	881	c.266A>G	c.(265-267)gAg>gGg	p.E89G		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	89						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CTTGTGGAAGAGACAAGCCAT	0.403000													7	181					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9021200	9021200	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:9021200C>G	ENST00000299698.7	+	32	4309	c.4129C>G	c.(4129-4131)Ccc>Gcc	p.P1377A	A2ML1_ENST00000539547.1_Missense_Mutation_p.P886A	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1221						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGGGTTCAGTCCCATGGAGGG	0.423000													10	141					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77294698	77294698	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr14:77294698C>T	ENST00000393774.3	+	2	277	c.153C>T	c.(151-153)tcC>tcT	p.S51S	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000216453.5_Silent_p.S8S|C14orf166B_ENST00000450042.2_Silent_p.S34S	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	51										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AGGCCGAATCCCCGCCGACTG	0.502000													15	55					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160097407	160097407	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:160097407G>A	ENST00000361216.3	+	8	903	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A272T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	272					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGCTACTCTCGCCTCAGGCCT	0.587000													14	77					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186644473	186644473	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:186644473A>G	ENST00000367468.5	-	9	1449	c.1313T>C	c.(1312-1314)aTt>aCt	p.I438T	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	438				I -> T (in Ref. 1; AAA35803).	cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GCTCTGGTCAATGGAAGCCTG	0.398000													6	88					0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205799455	205799455	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:205799455G>A	ENST00000367136.4	-	12	1382	c.1338C>T	c.(1336-1338)ggC>ggT	p.G446G	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	446						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ACCTGTAGATGCCAGTGGTGA	0.448000													7	80					0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131502	35131502	+	RNA	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:35131502G>A	ENST00000436258.1	-	0	1867																											ACAATGGGATGAAGTGTAGAC	0.408000													12	85					0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183707229	183707229	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:183707229T>C	ENST00000295113.4	-	3	1178	c.569A>G	c.(568-570)tAt>tGt	p.Y190C		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	190	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GTTCCGGAAATAGGTCTTCTG	0.363000													7	108					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207741280	207741280	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:207741280A>G	ENST00000367049.4	+	25	4064	c.4064A>G	c.(4063-4065)gAc>gGc	p.D1355G	CR1_ENST00000400960.2_Missense_Mutation_p.D905G|CR1_ENST00000367051.1_Missense_Mutation_p.D905G|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.D905G|CR1_ENST00000367052.1_Intron	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	905	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCCCACCCAGACAGAGGGACG	0.542000													7	209					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94034041	94034041	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:94034041G>A	ENST00000297268.6	+	8	832	c.361G>A	c.(361-363)Ggt>Agt	p.G121S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	121					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGAGCCTGGTGAACCTGG	0.383000										HNSCC(75;0.22)			8	161					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201060815	201060815	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:201060815T>C	ENST00000362061.3	-	5	873	c.647A>G	c.(646-648)gAg>gGg	p.E216G	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E216G	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	216					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTTGAAGAGCTCCAGCCCGAT	0.557000													8	111					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403							protein binding	p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507000													4	142					1.23904e-05	1.30912e-05	1	1	0
ZNF202	7753	broad.mit.edu	37	11	123601209	123601209	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:123601209T>C	ENST00000336139.4	-	3	750	c.388A>G	c.(388-390)Aga>Gga	p.R130G	ZNF202_ENST00000530393.1_Missense_Mutation_p.R130G|ZNF202_ENST00000529691.1_Missense_Mutation_p.R130G			O95125	ZN202_HUMAN	zinc finger protein 202	130					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CGCCTTGGTCTCCTGGGTTGT	0.607000													6	135					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151166406	151166406	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:151166406C>T	ENST00000282466.3	-	4	1362	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N		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	455					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)			ATTTGAGCATCACTGGAGTAC	0.423000													11	111					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21723368	21723368	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr18:21723368C>G	ENST00000399496.3	+	3	355	c.190C>G	c.(190-192)Cag>Gag	p.Q64E	CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399499.1_Missense_Mutation_p.Q64E|CABYR_ENST00000581397.1_Missense_Mutation_p.Q64E|CABYR_ENST00000415309.2_Missense_Mutation_p.Q64E|CABYR_ENST00000399481.2_Intron	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	64					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					ACAATTTCATCAGATTAAAGG	0.284000													3	31					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84804399	84804399	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:84804399A>T	ENST00000389394.3	+	13	2080	c.1943A>T	c.(1942-1944)gAa>gTa	p.E648V	DNAH6_ENST00000237449.6_Missense_Mutation_p.E648V|DNAH6_ENST00000398278.2_Missense_Mutation_p.E648V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	648	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTTTTTAGTGAACAACTGGAA	0.303000													6	87					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10404756	10404756	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:10404756G>C	ENST00000221980.4	+	8	1815	c.1752G>C	c.(1750-1752)tgG>tgC	p.W584C		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	584	Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCAGCAATTGGACATGGGTGG	0.652000													8	102					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6853999	6853999	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:6853999G>A	ENST00000304076.2	+	25	2402	c.2308G>A	c.(2308-2310)Gac>Aac	p.D770N	VAV1_ENST00000596764.1_Missense_Mutation_p.D760N|VAV1_ENST00000539284.1_Missense_Mutation_p.D695N|VAV1_ENST00000599806.1_Missense_Mutation_p.D737N|VAV1_ENST00000602142.1_Missense_Mutation_p.D792N	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	792					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGCCCGCTATGACTTCTGCGC	0.537000													5	129					0	0	1	0	0
SEPN1	57190	broad.mit.edu	37	1	26136235	26136235	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:26136235C>G	ENST00000361547.2	+	7	989	c.934C>G	c.(934-936)Cag>Gag	p.Q312E	SEPN1_ENST00000374315.1_Missense_Mutation_p.Q278E|SEPN1_ENST00000354177.4_Missense_Mutation_p.Q278E	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	312						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCCTGCTCAGTTCACCGG	0.637000													5	80					0	0	1	0	0
FAM63B	54629	broad.mit.edu	37	15	59144044	59144044	+	Silent	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr15:59144044A>G	ENST00000559228.1	+	8	1699	c.1617A>G	c.(1615-1617)ggA>ggG	p.G539G	FAM63B_ENST00000450403.2_Silent_p.G539G			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	539	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TCCCGGAAGGAATCAGTGATT	0.413000													4	71					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202322	248202322	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:248202322T>A	ENST00000366479.2	+	1	849	c.753T>A	c.(751-753)taT>taA	p.Y251*	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCTTCTACTATGCACCCTTTG	0.512000													17	145					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149901793	149901793	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:149901793G>T	ENST00000439741.2	-	16	1913	c.1663C>A	c.(1663-1665)Cct>Act	p.P555T	MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.P483T|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	555	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGGGGTCCAGGAACCATGAAG	0.532000													7	82					2.0095e-06	2.14255e-06	1	1	0
IQUB	154865	broad.mit.edu	37	7	123104941	123104941	+	Silent	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:123104941A>G	ENST00000466202.1	-	10	2280	c.1704T>C	c.(1702-1704)ttT>ttC	p.F568F	IQUB_ENST00000434450.1_Silent_p.F568F|IQUB_ENST00000324698.6_Silent_p.F568F	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	568										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TATAATGAAAAAAGAGTGTCG	0.333000													5	124					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748205	43748205	+	Silent	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr15:43748205T>C	ENST00000263801.3	-	12	2838	c.2586A>G	c.(2584-2586)tcA>tcG	p.S862S	TP53BP1_ENST00000450115.2_Silent_p.S867S|TP53BP1_ENST00000382039.3_Silent_p.S867S|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Silent_p.S867S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	862					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTCTGTTAATGAATTACTTG	0.468000								Other conserved DNA damage response genes					8	182					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173322581	173322581	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:173322581A>T	ENST00000457714.1	+	3	622	c.193A>T	c.(193-195)Att>Ttt	p.I65F	NLGN1_ENST00000545397.1_Missense_Mutation_p.I65F|NLGN1_ENST00000361589.4_Missense_Mutation_p.I65F|NLGN1_ENST00000401917.3_Missense_Mutation_p.I65F	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	65					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GATAAGAGGGATTAAGAAGGA	0.458000													6	112					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149068	73149068	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr4:73149068G>A	ENST00000286657.4	-	22	3439	c.3403C>T	c.(3403-3405)Cag>Tag	p.Q1135*		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1135					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)			CCTGCTTGCTGAGCACTCCTC	0.512000													4	98					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154147343	154147343	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:154147343T>C	ENST00000389740.2	-	1	161	c.62A>G	c.(61-63)aAt>aGt	p.N21S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	21						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTCCGTAGAATTATGATTCTC	0.373000													11	129					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055835	167055835	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:167055835C>G	ENST00000375387.4	-	27	5657	c.5317G>C	c.(5317-5319)Gaa>Caa	p.E1773Q	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.E1761Q|SCN9A_ENST00000409435.1_Missense_Mutation_p.E1772Q|SCN9A_ENST00000303354.6_Missense_Mutation_p.E1773Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1772						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTCAGAGGTTCAGTACTTTCT	0.398000													9	165					0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123687413	123687413	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:123687413C>T	ENST00000369043.3	-	1	138	c.52G>A	c.(52-54)Gag>Aag	p.E18K	ATE1_ENST00000224652.6_Missense_Mutation_p.E18K|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000543447.1_5'UTR|ATE1_ENST00000369040.3_5'UTR	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	18					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TAGAAGTCCTCGCTAGGGAAA	0.726000													3	15					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50326368	50326368	+	Splice_Site	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:50326368C>A	ENST00000436390.1	-	12	1383	c.886G>T	c.(886-888)Gag>Tag	p.E296*	IFRD2_ENST00000336089.4_Splice_Site_p.E462*|IFRD2_ENST00000417626.2_Splice_Site_p.E296*|IFRD2_ENST00000429673.2_Splice_Site_p.E360*			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	360							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)		ACAAACTCCTCCTGCAATGGG	0.577000													3	28					0.115264	0.11626	1	1	0
CLIP1	6249	broad.mit.edu	37	12	122862450	122862450	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:122862450G>A	ENST00000358808.2	-	3	297	c.143C>T	c.(142-144)tCt>tTt	p.S48F	CLIP1_ENST00000302528.7_Missense_Mutation_p.S48F|CLIP1_ENST00000537178.1_Missense_Mutation_p.S48F|CLIP1_ENST00000361654.4_Missense_Mutation_p.S48F|CLIP1_ENST00000540338.1_Missense_Mutation_p.S48F	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	48					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGAGTCTCAGATGATGGAGT	0.403000													13	279					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70206617	70206617	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:70206617C>G	ENST00000550536.1	+	9	1695	c.1238C>G	c.(1237-1239)tCa>tGa	p.S413*	AC025263.3_ENST00000550437.1_Nonsense_Mutation_p.S38*|RAB3IP_ENST00000553099.1_Nonsense_Mutation_p.S191*|RAB3IP_ENST00000551641.1_Nonsense_Mutation_p.S191*|RAB3IP_ENST00000550847.1_Nonsense_Mutation_p.S104*|RAB3IP_ENST00000325555.9_Nonsense_Mutation_p.S191*|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000247833.7_Nonsense_Mutation_p.S397*|RAB3IP_ENST00000362025.5_Intron	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	413					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TTAGGGGACTCAAGCAACTAT	0.323000													4	91					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10235527	10235527	+	Silent	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:10235527G>C	ENST00000418404.3	-	19	2350	c.2187C>G	c.(2185-2187)ctC>ctG	p.L729L	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.L729L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	729	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						CACTGGCATTGAGGATCCGGT	0.507000													7	87					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133946	119133946	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:119133946T>G	ENST00000264245.4	+	12	3702	c.3170T>G	c.(3169-3171)aTt>aGt	p.I1057S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1057					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGTCCACAGATTAGGCAAGGT	0.592000													12	200					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101271436	101271436	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr8:101271436G>C	ENST00000519449.1	-	11	2181	c.1865C>G	c.(1864-1866)tCa>tGa	p.S622*	RNF19A_ENST00000341084.2_Nonsense_Mutation_p.S622*|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	622					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GGATGGCTTTGACTCAATATC	0.443000											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	140					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35913902	35913902	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:35913902G>C	ENST00000325722.3	-	16	2619	c.2385C>G	c.(2383-2385)atC>atG	p.I795M	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.I232M|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	795						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)				TGATATCCAAGATGATCTCCA	0.502000													6	99					0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249211412	249211412	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:249211412A>G	ENST00000539153.1	+	4	875	c.620A>G	c.(619-621)cAt>cGt	p.H207R	PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.H210R|PGBD2_ENST00000355360.4_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	210										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCACATCATCATCTTGTGGCT	0.398000													15	145					0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5009123	5009123	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:5009123T>A	ENST00000250076.3	-	5	1985	c.1331A>T	c.(1330-1332)cAt>cTt	p.H444L	ZNF232_ENST00000575898.1_Missense_Mutation_p.H435L	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	417					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TTCAATTCAATGGGAAGGCTC	0.403000													5	137					0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13251182	13251182	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr20:13251182C>T	ENST00000262487.4	+	2	176	c.170C>T	c.(169-171)tCa>tTa	p.S57L	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor							extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GACACCACATCAGAAACCAGC	0.473000													5	20					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466257	56466257	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:56466257C>A	ENST00000291971.3	+	3	904	c.833C>A	c.(832-834)cCc>cAc	p.P278H	NLRP8_ENST00000590542.1_Missense_Mutation_p.P278H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	278	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ATGTCCAAACCCGACCAACTT	0.517000													9	217					0.0135373	0.0137732	1	1	0
GJA1	2697	broad.mit.edu	37	6	121769060	121769060	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:121769060T>G	ENST00000282561.3	+	2	1224	c.1067T>G	c.(1066-1068)cTa>cGa	p.L356R		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	356					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TTACAGCCACTAGCCATTGTG	0.507000													6	74					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8620604	8620604	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:8620604T>G	ENST00000338257.8	-	2	347	c.80A>C	c.(79-81)cAg>cCg	p.Q27P		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	27	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TTCGGTGATCTGGGGAAGAAG	0.642000													4	69					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43576076	43576076	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:43576076G>C	ENST00000406487.1	-	4	838	c.740C>G	c.(739-741)tCa>tGa	p.S247*		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	247	Ig-like C2-type 2.				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)				ATTGGTGTATGAAGGGTGAAT	0.483000													4	228					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11984690	11984690	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:11984690C>T	ENST00000356352.2	-	17	3825	c.3352G>A	c.(3352-3354)Gat>Aat	p.D1118N	UPF2_ENST00000397053.2_Missense_Mutation_p.D1118N|UPF2_ENST00000357604.5_Missense_Mutation_p.D1118N			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1118	Interaction with UPF1.|Necessary for interaction with UPF1.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATCATTTTATCCAGAGCTTGA	0.348000													4	82					0	0	1	0	0
ANAPC16	119504	broad.mit.edu	37	10	73992847	73992847	+	Silent	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:73992847G>T	ENST00000299381.4	+	4	424	c.306G>T	c.(304-306)ctG>ctT	p.L102L	ANAPC16_ENST00000470481.2_3'UTR	NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3	NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1	Q96DE5	APC16_HUMAN	anaphase promoting complex subunit 16	102					cell division|mitosis|protein ubiquitination	anaphase-promoting complex|cytoplasm				large_intestine(1)|ovary(1)	2						TCGAGCAGCTGCTGGGATTCA	0.537000													4	51					0.00909568	0.00927442	1	1	0
SLC35A4	113829	broad.mit.edu	37	5	139947713	139947713	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:139947713A>G	ENST00000514199.1	+	2	2645	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.Y320C			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	320						Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGCCTGTACTATGGCAGC	0.627000													4	46					0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59857824	59857824	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:59857824A>G	ENST00000278888.3	+	3	304	c.202A>G	c.(202-204)Act>Gct	p.T68A		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	68					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	ACAAATTCTGACTGCTATGAT	0.313000													12	185					0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61254054	61254054	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:61254054G>A	ENST00000338608.2	+	9	931	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	PPP1R32_ENST00000432063.2_Missense_Mutation_p.R249Q	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	269																	GCCTTCAGCCGAGGGAATGAA	0.577000													4	41					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123220471	123220471	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chrX:123220471C>T	ENST00000371160.1	+	30	3418	c.3128C>T	c.(3127-3129)tCt>tTt	p.S1043F	STAG2_ENST00000354548.5_Missense_Mutation_p.S974F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.S1043F|STAG2_ENST00000371157.3_Missense_Mutation_p.S1043F|STAG2_ENST00000371144.3_Missense_Mutation_p.S1043F|STAG2_ENST00000371145.3_Missense_Mutation_p.S1043F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1043					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCACTGATGTCTTACCGAAAT	0.428000													6	40					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061280	9061280	+	Silent	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:9061280T>G	ENST00000397910.4	-	3	26369	c.26166A>C	c.(26164-26166)gcA>gcC	p.A8722A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8724	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						TTCTCTCTGTTGCTGAGCTGG	0.507000													6	73					0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39812837	39812837	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr22:39812837C>T	ENST00000216160.6	+	4	428	c.366C>T	c.(364-366)gaC>gaT	p.D122D	TAB1_ENST00000331454.3_Silent_p.D122D	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	122	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						AGTCCATTGACGACGCCTTGG	0.582000													8	75					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51824752	51824752	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:51824752C>T	ENST00000371117.3	-	36	6099	c.5824G>A	c.(5824-5826)Gat>Aat	p.D1942N	PKHD1_ENST00000340994.4_Missense_Mutation_p.D1942N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1942	G8 1.		D -> G (in ARPKD).		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)					TTGTCGCCATCTTGTGGCAGC	0.493000											OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	159					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053438	17053438	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:17053438A>G	ENST00000418129.2	+	2	2687	c.2222A>G	c.(2221-2223)gAg>gGg	p.E741G	PLCL2_ENST00000432376.1_Missense_Mutation_p.E741G|PLCL2_ENST00000396755.2_Missense_Mutation_p.E741G	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	867	C2.				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						TTAACTGGAGAGGTCCTTGCA	0.483000													14	130					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26918138	26918138	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr14:26918138C>T	ENST00000539517.2	-	5	868	c.551G>A	c.(550-552)gGt>gAt	p.G184D	NOVA1_ENST00000267422.7_Missense_Mutation_p.G62D|NOVA1_ENST00000465357.2_Missense_Mutation_p.G160D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	187	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TATTATCAGACCTGCTGTGCT	0.393000													8	144					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104171829	104171829	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr9:104171829G>A	ENST00000374861.3	+	3	2021	c.1737G>A	c.(1735-1737)gtG>gtA	p.V579V	ZNF189_ENST00000259395.4_Silent_p.V551V|ZNF189_ENST00000339664.2_Silent_p.V593V	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	593					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				ATGCAGAGGTGAAAACCCAAG	0.428000													5	76					0	0	1	0	0
RDH10	157506	broad.mit.edu	37	8	74231402	74231402	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr8:74231402G>A	ENST00000240285.5	+	3	1275	c.597G>A	c.(595-597)ttG>ttA	p.L199L	RDH10_ENST00000519380.1_Silent_p.L34L|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	199					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			CAAGTTCCTTGGGATTGTTCA	0.398000													8	189					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74580640	74580640	+	Splice_Site	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr18:74580640G>C	ENST00000253159.8	+	4	555		c.e4-1		ZNF236_ENST00000583095.1_Splice_Site|ZNF236_ENST00000320610.9_Splice_Site	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236						cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTCTCTTCCAGAATCTCATCT	0.488000													17	161					0	0	1	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454713	6454713	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:6454713C>T	ENST00000301454.4	-	5	605	c.499G>A	c.(499-501)Gag>Aag	p.E167K	SLC25A23_ENST00000334510.5_Missense_Mutation_p.E167K	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	167					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GTCAGGCACTCGCCAATGTCC	0.577000													5	118					0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44512948	44512948	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:44512948G>C	ENST00000429154.2	+	3	250	c.22G>C	c.(22-24)Gtg>Ctg	p.V8L	ZNF230_ENST00000585632.1_Missense_Mutation_p.V8L	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	8	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				ATAGGAGGCAGTGACCTTCAA	0.522000													6	212					0	0	1	0	0
MRPL39	54148	broad.mit.edu	37	21	26965191	26965191	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr21:26965191T>G	ENST00000307301.7	-	8	895	c.854A>C	c.(853-855)aAt>aCt	p.N285T	MRPL39_ENST00000352957.4_Missense_Mutation_p.N285T	NM_080794.3	NP_542984	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	285						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						GGGTTGAAGATTGTGAACTGC	0.398000													4	119					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39903608	39903608	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:39903608G>C	ENST00000564288.1	+	71	18925	c.18148G>C	c.(18148-18150)Gag>Cag	p.E6050Q	MACF1_ENST00000317713.7_Missense_Mutation_p.E3991Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E5949Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E3861Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E4493Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E3991Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E3991Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E6087Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6062					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)			GCCATCCTTTGAGGCCTTGAA	0.478000													4	106					0	0	1	0	0
ZNF514	84874	broad.mit.edu	37	2	95815034	95815034	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:95815034G>T	ENST00000295208.2	-	5	1658	c.1196C>A	c.(1195-1197)aCc>aAc	p.T399N	ZNF514_ENST00000411425.1_Missense_Mutation_p.T399N|MRPS5_ENST00000475040.1_5'UTR	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						AATTTATAGGGTTTTTTTTCC	0.398000													13	138					9.31168e-06	9.90559e-06	1	1	0
TRIOBP	11078	broad.mit.edu	37	22	38130999	38130999	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr22:38130999G>C	ENST00000406386.3	+	9	4911	c.4656G>C	c.(4654-4656)gaG>gaC	p.E1552D		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1552					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GTGGCTCTGAGAGGCGACCCG	0.687000											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	81					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708311	43708311	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:43708311G>A	ENST00000405312.3	-	2	394	c.157C>T	c.(157-159)Cta>Tta	p.L53L	PSG4_ENST00000433626.2_Silent_p.L53L|PSG4_ENST00000244295.9_Silent_p.L53L	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	53	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)				TGGACAAGTAGAAGAACATCC	0.458000													14	169					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36570055	36570055	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:36570055A>T	ENST00000431169.1	-	19	1791	c.1491T>A	c.(1489-1491)aaT>aaA	p.N497K	AOAH_ENST00000538464.1_Missense_Mutation_p.N219K|AOAH_ENST00000258749.5_Missense_Mutation_p.N497K|AOAH_ENST00000535891.1_Missense_Mutation_p.N465K|AOAH_ENST00000491444.1_5'UTR	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	497					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TGTAGAAAAGATTGAAGTTTG	0.408000													8	64					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90004276	90004276	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:90004276C>G	ENST00000428670.3	-	14	2713	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	ATP2B1_ENST00000359142.3_Missense_Mutation_p.E753Q|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E496Q|ATP2B1_ENST00000348959.3_Missense_Mutation_p.E753Q|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E753Q			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	753					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TCTATCCTCTCTTGCTCAATC	0.338000													24	154					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70267647	70267647	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:70267647G>A	ENST00000301843.8	+	11	1068	c.862G>A	c.(862-864)Gat>Aat	p.D288N	CTTN_ENST00000376561.3_Intron|CTTN_ENST00000346329.3_Intron|CTTN_ENST00000538675.1_Intron	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	288						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGTGGGGTTTGATTACAAGGA	0.562000													18	257					0	0	1	0	0
ZNF529	57711	broad.mit.edu	37	19	37037819	37037819	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:37037819C>T	ENST00000334116.7	-	6	1936	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G	ZNF529_ENST00000591340.1_Silent_p.G547G	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					AAGTAAGATGCCCAACAACAC	0.348000													5	69					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145060236	145060236	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr8:145060236G>A	ENST00000313028.7	-	2	262	c.168C>T	c.(166-168)ttC>ttT	p.F56F	PARP10_ENST00000524918.1_Silent_p.F56F|PARP10_ENST00000533665.1_Intron|PARP10_ENST00000525773.1_Silent_p.F68F	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	56						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGCTCTCTGAAGGTGAGGA	0.632000													8	53					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51705249	51705249	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr8:51705249T>A	ENST00000522124.1	+	19	2075	c.1414T>A	c.(1414-1416)Tta>Ata	p.L472I	SNTG1_ENST00000517473.1_Missense_Mutation_p.L435I|SNTG1_ENST00000518864.1_Missense_Mutation_p.L472I|SNTG1_ENST00000276467.5_Missense_Mutation_p.L435I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	472					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)				ATTTTCTAATTTATTTGCTGT	0.333000													11	170					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64422033	64422033	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:64422033G>C	ENST00000262043.3	+	16	4889	c.4549G>C	c.(4549-4551)Gat>Cat	p.D1517H	PHF3_ENST00000393387.1_Missense_Mutation_p.D1517H			Q92576	PHF3_HUMAN	PHD finger protein 3	1517					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GGAAGTAACTGATGGTGAAAA	0.343000													5	71					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128086083	128086083	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr9:128086083C>T	ENST00000470056.1	+	9	1899	c.1739C>T	c.(1738-1740)tCa>tTa	p.S580L	GAPVD1_ENST00000297933.6_Missense_Mutation_p.S580L|GAPVD1_ENST00000495955.1_Missense_Mutation_p.S580L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.S559L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.S559L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.S580L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.S580L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.S580L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	580					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTAGGTCCTTCAAATCGCTCC	0.418000													5	65					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48824972	48824972	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr8:48824972G>C	ENST00000314191.2	-	25	2988	c.2932C>G	c.(2932-2934)Cag>Gag	p.Q978E	PRKDC_ENST00000338368.3_Missense_Mutation_p.Q978E|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	978					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCCCTTACCTGATCAACATCA	0.473000								Non-homologous end-joining					5	163					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725254	106725254	+	RNA	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr14:106725254G>A	ENST00000390609.2	-	0	376																											TTCATTTGCAGATACAGCGTG	0.522000													7	658					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88577665	88577665	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr4:88577665C>T	ENST00000339673.6	+	2	120	c.21C>T	c.(19-21)ctC>ctT	p.L7L	DMP1_ENST00000282479.7_Silent_p.L7L|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	7					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GCATCCTGCTCATGTTCCTTT	0.388000													6	122					0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196118708	196118708	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:196118708C>G	ENST00000296328.4	-	5	518	c.444G>C	c.(442-444)ttG>ttC	p.L148F	UBXN7_ENST00000535858.1_5'UTR|UBXN7_ENST00000428095.1_Intron	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	148							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTTTATGCATCAAATCAATGG	0.358000													7	93					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111413387	111413387	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:111413387G>C	ENST00000535254.1	-	15	1812	c.1745C>G	c.(1744-1746)tCt>tGt	p.S582C	BUB1_ENST00000409311.1_Missense_Mutation_p.S602C|BUB1_ENST00000302759.6_Missense_Mutation_p.S602C	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	602					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTGTGCAGCAGATGTGAAGTC	0.473000													17	214					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9459667	9459667	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:9459667C>G	ENST00000379719.3	+	22	2672	c.2530C>G	c.(2530-2532)Ctt>Gtt	p.L844V		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	844					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACTCTGTGCTCTTATTGATAT	0.313000													9	192					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104170832	104170832	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr9:104170832A>G	ENST00000374861.3	+	3	1024	c.740A>G	c.(739-741)aAa>aGa	p.K247R	ZNF189_ENST00000259395.4_Missense_Mutation_p.K219R|ZNF189_ENST00000339664.2_Missense_Mutation_p.K261R	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	261					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAACCCCATAAATGTAGTGAC	0.418000													18	254					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9052078	9052078	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:9052078G>A	ENST00000382496.5	-	20	3417	c.2752C>T	c.(2752-2754)Cgc>Tgc	p.R918C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	918	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATGCACTGGCGGGCGCGGACT	0.612000													3	41					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177605138	177605138	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr4:177605138T>C	ENST00000280193.2	-	7	1617	c.1202A>G	c.(1201-1203)tAt>tGt	p.Y401C	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	401					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTCTTCACTATATGAAAATCC	0.413000													4	124					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179441726	179441726	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:179441726G>A	ENST00000589042.1	-	324	69560	c.69336C>T	c.(69334-69336)ttC>ttT	p.F23112F	TTN_ENST00000591111.1_Silent_p.F21471F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.F14239F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.F14172F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.F20544F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.F14047F|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21471	Ig-like 118.						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)			CTGAGACCCGGAAGATGTACT	0.443000													15	272					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39084853	39084853	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:39084853C>G	ENST00000209718.3	-	5	1067	c.643G>C	c.(643-645)Gag>Cag	p.E215Q	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.E78Q	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	215	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TGATGCTTCTCCATTTCCTAT	0.408000													6	145					0	0	1	0	0
VCX	26609	broad.mit.edu	37	X	7811698	7811698	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chrX:7811698G>A	ENST00000381059.3	+	3	481	c.262G>A	c.(262-264)Gag>Aag	p.E88K	VCX_ENST00000341408.4_Missense_Mutation_p.E88K	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	88	Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CCCTCAGCACGAGCTGCCGCC	0.711000													7	45					0	0	1	0	0
RSG1	79363	broad.mit.edu	37	1	16559112	16559112	+	Silent	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:16559112G>C	ENST00000375599.3	-	4	839	c.420C>G	c.(418-420)ctC>ctG	p.L140L		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	140	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						AGAAGAGGAAGAGGAAGGCAT	0.562000													3	47					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	170007446	170007446	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:170007446C>T	ENST00000367765.1	-	5	1883	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000361580.2_Missense_Mutation_p.E168K|KIFAP3_ENST00000538366.1_Missense_Mutation_p.E90K|KIFAP3_ENST00000367767.1_Missense_Mutation_p.E124K	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	168					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATAGTAGTTCTTCCAAGTTA	0.303000													12	107					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60581493	60581493	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr14:60581493G>A	ENST00000406854.1	+	3	1319	c.765G>A	c.(763-765)ctG>ctA	p.L255L	PCNXL4_ENST00000317623.4_Silent_p.L21L|PCNXL4_ENST00000404681.2_Silent_p.L255L|PCNXL4_ENST00000406949.1_Silent_p.L21L					pecanex-like 4 (Drosophila)																		TACCCTTTCTGTGGGCACTTG	0.418000													20	98					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100645223	100645223	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:100645223A>G	ENST00000471714.1	-	2	312	c.203T>C	c.(202-204)cTg>cCg	p.L68P	ABI3BP_ENST00000284322.5_Missense_Mutation_p.L68P|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000495063.1_Missense_Mutation_p.L68P			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	68						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCCATATCCCAGGAGAAGACC	0.458000													4	67					0	0	1	0	0
TIMM50	92609	broad.mit.edu	37	19	39972525	39972525	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:39972525C>T	ENST00000314349.4	+	2	553	c.420C>T	c.(418-420)gcC>gcT	p.A140A	TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000607714.1_Silent_p.A37A|TIMM50_ENST00000599794.1_Intron	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	37					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AACCGCAGGCCGCAGAGATCG	0.607000													5	78					0	0	1	0	0
POMK	84197	broad.mit.edu	37	8	42977441	42977441	+	Silent	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr8:42977441T>C	ENST00000331373.5	+	5	729	c.474T>C	c.(472-474)agT>agC	p.S158S		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1			protein-O-mannose kinase	158																	GTTCCTTGAGTAACCTGGAAG	0.453000													4	65					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31711653	31711653	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr13:31711653G>A	ENST00000320027.5	-	18	2723	c.2379C>T	c.(2377-2379)aaC>aaT	p.N793N	HSPH1_ENST00000380406.5_Silent_p.N752N|HSPH1_ENST00000380405.4_Silent_p.N749N|HSPH1_ENST00000429785.2_Silent_p.N612N|HSPH1_ENST00000445273.2_Silent_p.N795N	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	793					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CACATGTGTTGTTCAATTCCT	0.358000													4	77					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26918094	26918094	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr14:26918094C>G	ENST00000539517.2	-	5	912	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	NOVA1_ENST00000267422.7_Missense_Mutation_p.E77Q|NOVA1_ENST00000465357.2_Missense_Mutation_p.E175Q	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	202	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CCTGACTGCTCCATTACAGCC	0.448000													5	128					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111955378	111955378	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr13:111955378G>C	ENST00000218789.5	+	21	2533	c.2036G>C	c.(2035-2037)aGa>aCa	p.R679T	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.R705T|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.R620T|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R695T|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.R620T			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	452					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GAAGAACAGAGAGCCCGCAAA	0.458000													3	53					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723958	7723958	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:7723958G>C	ENST00000303635.7	+	9	1558	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E451Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGGCAGCTCGGAGAGCCTGTC	0.622000			T	WWTR1	epitheliod hemangioendothelioma								4	77					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163130334	163130334	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:163130334G>A	ENST00000263642.2	-	12	2820	c.2425C>T	c.(2425-2427)Ctc>Ttc	p.L809F		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	809	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTGGTGACGAGACCATAACGG	0.338000													5	101					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14364830	14364830	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:14364830G>A	ENST00000344204.4	+	15	2683	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K	TRIO_ENST00000537187.1_Missense_Mutation_p.E887K|TRIO_ENST00000509967.2_Missense_Mutation_p.E838K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	887					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTTTCTTCATGAAAAACAGCA	0.527000											OREG0016458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	106					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19701569	19701569	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr21:19701569A>T	ENST00000284885.3	-	15	1730	c.1697T>A	c.(1696-1698)cTt>cAt	p.L566H		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	566	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGAAAATGAAGTTGTATATT	0.308000													5	53					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627570	43627570	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr9:43627570C>T	ENST00000332857.6	-	4	1145	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GTGTCCTGCTCAGCATCCAAT	0.443000													18	297					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203383646	203383646	+	Silent	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:203383646C>A	ENST00000374580.4	+	6	1262	c.723C>A	c.(721-723)atC>atA	p.I241I	BMPR2_ENST00000374574.2_Silent_p.I241I	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	241	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGAATTTTATCAACGAAAAGA	0.433000													4	139					0.014758	0.0149826	1	1	0
ING3	54556	broad.mit.edu	37	7	120607594	120607594	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:120607594A>T	ENST00000315870.5	+	7	596	c.448A>T	c.(448-450)Aat>Tat	p.N150Y	ING3_ENST00000431467.1_Missense_Mutation_p.N135Y	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	150					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					AAGGAAATATAATCCAACTTC	0.303000													9	106					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41323771	41323771	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:41323771A>T	ENST00000551295.2	+	7	787	c.670A>T	c.(670-672)Agc>Tgc	p.S224C	CNTN1_ENST00000547849.1_Missense_Mutation_p.S224C|CNTN1_ENST00000547702.1_Missense_Mutation_p.S224C|CNTN1_ENST00000360099.3_Missense_Mutation_p.S224C|CNTN1_ENST00000348761.2_Missense_Mutation_p.S213C|CNTN1_ENST00000347616.1_Missense_Mutation_p.S224C	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	224					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)				GAGCGTGTTCAGCAAATTCAT	0.378000													6	245					0	0	1	0	0
SNRNP70	6625	broad.mit.edu	37	19	49604707	49604707	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:49604707G>T	ENST00000221448.5	+	7	650	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	SNRNP70_ENST00000598441.1_Nonsense_Mutation_p.E152*	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	152	RRM.				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CATCGAGTACGAACACGAGCG	0.612000													4	56					0.150653	0.150977	1	1	0
OR2H1	26716	broad.mit.edu	37	6	29430094	29430094	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:29430094T>A	ENST00000377136.1	+	4	1013	c.548T>A	c.(547-549)aTt>aAt	p.I183N	OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Missense_Mutation_p.I183N|OR2H1_ENST00000377132.1_Missense_Mutation_p.I183N|OR2H1_ENST00000396792.2_Missense_Mutation_p.I183N|OR2H1_ENST00000377133.1_Missense_Mutation_p.I183N			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CCATCTCTGATTCGACTCTCC	0.498000													8	198					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83851730	83851730	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:83851730G>A	ENST00000349129.2	+	24	5766	c.5506G>A	c.(5506-5508)Gaa>Aaa	p.E1836K	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E1827K|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E1817K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1836					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGTGTGGAATGAAAGAAGACA	0.368000													12	220					0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59860886	59860886	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:59860886T>C	ENST00000278888.3	+	5	494	c.392T>C	c.(391-393)cTg>cCg	p.L131P		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	131					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AGAGGAAGCCTGGGAGCAAAC	0.493000													5	105					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5416076	5416076	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr18:5416076T>C	ENST00000341928.2	-	13	2148	c.1808A>G	c.(1807-1809)gAt>gGt	p.D603G	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.D603G|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	603	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GAGGTATCCATCATCATCTAG	0.547000													5	79					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140255359	140255359	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr4:140255359G>A	ENST00000296543.5	+	2	409	c.86G>A	c.(85-87)gGa>gAa	p.G29E	NAA15_ENST00000398947.1_Missense_Mutation_p.G29E	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	29					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TATAGAAATGGATTGAAATTC	0.318000													7	111					0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62338505	62338505	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:62338505G>C	ENST00000378019.3	-	5	694	c.604C>G	c.(604-606)Ctg>Gtg	p.L202V	EEF1G_ENST00000329251.4_Missense_Mutation_p.L152V|EEF1G_ENST00000532986.1_5'UTR|MIR3654_ENST00000496634.2_3'UTR			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	152	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCGCCCACCAGAAAAGTCCTC	0.478000													5	137					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124141359	124141359	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr8:124141359A>T	ENST00000378080.2	+	14	2055	c.1852A>T	c.(1852-1854)Aag>Tag	p.K618*	TBC1D31_ENST00000522420.1_Missense_Mutation_p.E619V|TBC1D31_ENST00000327098.5_Missense_Mutation_p.E724V|TBC1D31_ENST00000287380.1_Missense_Mutation_p.E724V|TBC1D31_ENST00000309336.3_Missense_Mutation_p.E724V|TBC1D31_ENST00000521676.1_Missense_Mutation_p.E601V|TBC1D31_ENST00000518805.1_Missense_Mutation_p.E278V					TBC1 domain family, member 31																		GTTGAAGATGAAGCTTGGTAC	0.383000													6	93					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58978247	58978247	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:58978247G>A	ENST00000361050.3	-	1	2177	c.2092C>T	c.(2092-2094)Cca>Tca	p.P698S		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	698						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GCAGTGCCTGGAACCAAACTC	0.507000													8	108					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310962	178310962	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:178310962C>G	ENST00000322434.3	+	5	1735	c.1509C>G	c.(1507-1509)ttC>ttG	p.F503L	ZNF354B_ENST00000522714.1_3'UTR	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAAAACATTCAGGTGTAACT	0.413000													5	119					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1513857	1513857	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:1513857C>T	ENST00000389470.4	-	42	6387	c.6388G>A	c.(6388-6390)Gag>Aag	p.E2130K	INTS1_ENST00000404767.3_Missense_Mutation_p.E1926K			Q8N201	INT1_HUMAN	integrator complex subunit 1	1926					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCCTGGTGCTCGCTGCGGAAC	0.677000											OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	28					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161600164	161600164	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:161600164G>A	ENST00000294800.3	-	2	328	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Missense_Mutation_p.R19W|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.R55W|FCGR3B_ENST00000367964.2_Missense_Mutation_p.R19W	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	19					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCACCAGTCCGCATGCCAGCT	0.438000													4	45					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407523	1407523	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chrX:1407523T>C	ENST00000381524.3	+	5	517	c.331T>C	c.(331-333)Tat>Cat	p.Y111H	CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Y111H|CSF2RA_ENST00000417535.2_Missense_Mutation_p.Y111H|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Y111H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Y111H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.Y111H|CSF2RA_ENST00000355805.2_Missense_Mutation_p.Y111H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Y111H|CSF2RA_ENST00000355432.3_Missense_Mutation_p.Y111H			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	111						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	GAAACTGCTTTATCCAAATTC	0.463000													24	318					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77094309	77094309	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:77094309G>A	ENST00000328299.3	+	5	884	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	246					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ttctAGGACAGAAGGGTATAG	0.358000													3	28					0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8633504	8633504	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:8633504G>A	ENST00000293845.3	-	7	1121	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	CCDC42_ENST00000539522.2_Missense_Mutation_p.R225W	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	299										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						ATGTCCGACCGGTCTTGGATA	0.537000													3	55					0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13639909	13639909	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:13639909G>C	ENST00000011619.3	-	9	1469	c.1411C>G	c.(1411-1413)Caa>Gaa	p.Q471E	RANBP9_ENST00000539980.1_Missense_Mutation_p.Q242E	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	471					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TAACTGTCTTGAGACTTTGGA	0.418000													21	73					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43535728	43535728	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:43535728G>A	ENST00000430334.3	-	6	1519	c.1386C>T	c.(1384-1386)caC>caT	p.H462H	PLEKHM1_ENST00000421073.2_Silent_p.H373H|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	462					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					AAGCTATTGGGTGGTCTGAAG	0.527000													4	69					0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160914931	160914931	+	Nonstop_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:160914931C>G	ENST00000368029.3	-	8	1034	c.977G>C	c.(976-978)tGa>tCa	p.*326S	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	0					signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCTCTGTCTCATCTATAGAA	0.517000													8	72					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237794836	237794836	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:237794836T>A	ENST00000366574.2	+	42	6867	c.6550T>A	c.(6550-6552)Tcc>Acc	p.S2184T	RYR2_ENST00000360064.6_Missense_Mutation_p.S2182T|RYR2_ENST00000542537.1_Missense_Mutation_p.S2168T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2184	4 X approximate repeats.				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)			AGGTGGAGAGTCCAAGGTAAC	0.393000													3	24					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20079084	20079084	+	Missense_Mutation	SNP	C	C	A	rs149336675		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr22:20079084C>A	ENST00000351989.3	+	6	1862	c.1433C>A	c.(1432-1434)tCc>tAc	p.S478Y	DGCR8_ENST00000407755.1_Missense_Mutation_p.S478Y|DGCR8_ENST00000383024.2_Missense_Mutation_p.S478Y	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	478	Necessary for heme-binding and pri-miRNA processing.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CAGGCGGAGTCCGAGAGGCCC	0.473000													15	277					5.35267e-07	5.75967e-07	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31324049	31324049	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr18:31324049G>A	ENST00000269197.5	+	12	4237	c.4237G>A	c.(4237-4239)Gtc>Atc	p.V1413I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACACCCGACCGTCGCAATGTT	0.488000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	190					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89462396	89462396	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:89462396T>C	ENST00000336596.2	+	10	2093	c.1868T>C	c.(1867-1869)aTt>aCt	p.I623T	EPHA3_ENST00000494014.1_Missense_Mutation_p.I623T	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	623	Protein kinase.					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)		AACATATCCATTGATAAAGTT	0.433000										TSP Lung(6;0.00050)			10	180					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57865120	57865120	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:57865120G>A	ENST00000391705.3	+	3	345	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	ZNF304_ENST00000598744.1_5'UTR|ZNF304_ENST00000282286.5_Missense_Mutation_p.V21M|ZNF304_ENST00000443917.2_Missense_Mutation_p.V21M	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGATGTGTTCGTGTACTTCTC	0.532000													4	74					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37687083	37687083	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:37687083C>T	ENST00000447079.4	+	14	4020	c.3987C>T	c.(3985-3987)tcC>tcT	p.S1329S	CDK12_ENST00000430627.2_Silent_p.S1320S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1329					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGGAGTACTCCACCCGACCCC	0.557000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			7	92					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31133898	31133898	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:31133898C>G	ENST00000452305.1	-	9	3012	c.2449G>C	c.(2449-2451)Gag>Cag	p.E817Q	ZNF438_ENST00000436087.2_Missense_Mutation_p.E827Q|ZNF438_ENST00000413025.1_Missense_Mutation_p.E827Q|ZNF438_ENST00000331737.6_Missense_Mutation_p.E817Q|ZNF438_ENST00000444692.2_Missense_Mutation_p.E817Q|ZNF438_ENST00000442986.1_Missense_Mutation_p.E827Q|ZNF438_ENST00000538351.2_Missense_Mutation_p.E778Q|ZNF438_ENST00000375311.1_Missense_Mutation_p.E391Q|ZNF438_ENST00000361310.3_Missense_Mutation_p.E827Q	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	827					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E827K(1)|p.E827Q(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCTCATTTCTCAGCTTCACTG	0.512000													9	190					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552080	100552080	+	Silent	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:100552080C>G	ENST00000319509.7	+	1	831	c.831C>G	c.(829-831)tcC>tcG	p.S277S						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ATGTGGGCTCCGCTTCTATCA	0.473000													10	440					0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193117044	193117044	+	Silent	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:193117044A>G	ENST00000367435.3	+	8	961	c.777A>G	c.(775-777)agA>agG	p.R259R		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	259					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TAAAAGCCAGAGAAGAAGGGC	0.353000													3	37					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155458386	155458386	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:155458386T>A	ENST00000461783.3	+	7	2543	c.1270T>A	c.(1270-1272)Tcc>Acc	p.S424T	TIAM2_ENST00000360366.4_Missense_Mutation_p.S424T|TIAM2_ENST00000529824.2_Missense_Mutation_p.S424T|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.S424T|TIAM2_ENST00000318981.5_Missense_Mutation_p.S424T			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	424					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCAGGGATCCTCCCAGGCATC	0.542000													6	91					0	0	1	0	0
HEY1	23462	broad.mit.edu	37	8	80679518	80679518	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr8:80679518G>A	ENST00000337919.5	-	2	294	c.101C>T	c.(100-102)tCg>tTg	p.S34L	HEY1_ENST00000354724.3_Missense_Mutation_p.S34L	NM_001040708.1	NP_001035798.1	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	34					angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			ACCTAGAGCCGAACTCAAGTT	0.453000			T	NCOA2	mesenchymal chondrosarcoma								14	211					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20200324	20200324	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:20200324C>T	ENST00000395530.2	+	11	2956	c.2748C>T	c.(2746-2748)ttC>ttT	p.F916F	SPECC1_ENST00000395527.4_Silent_p.F997F|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Silent_p.F997F|SPECC1_ENST00000536879.1_Silent_p.F337F	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	997						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GCCTGGCCTTCTGTGCTCTGC	0.498000													5	39					0	0	1	0	0
RNF167	26001	broad.mit.edu	37	17	4848226	4848226	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:4848226C>A	ENST00000262482.6	+	10	1624	c.968C>A	c.(967-969)tCc>tAc	p.S323Y	RNF167_ENST00000575111.1_Missense_Mutation_p.S323Y|RNF167_ENST00000571816.1_Missense_Mutation_p.S323Y|RNF167_ENST00000576229.1_Missense_Mutation_p.S288Y|RNF167_ENST00000572430.1_Missense_Mutation_p.S323Y	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	323					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						TCCTTTGGTTCCTTAGCCCCA	0.577000													9	174					1.58986e-06	1.69901e-06	1	1	0
ZNF638	27332	broad.mit.edu	37	2	71592810	71592810	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:71592810G>A	ENST00000409544.1	+	6	2599	c.1969G>A	c.(1969-1971)Gat>Aat	p.D657N	ZNF638_ENST00000264447.4_Missense_Mutation_p.D657N|ZNF638_ENST00000377802.2_Missense_Mutation_p.D657N|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.D657N	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	657					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACAGGTGTCTGATAAAGCTGT	0.368000													6	56					0	0	1	0	0
LOC283683	283683	broad.mit.edu	37	15	23108867	23108867	+	RNA	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr15:23108867A>G	ENST00000557922.1	-	0	262					NR_040057.1																						TCTTTGTTCCACTTGGTTCGA	0.403000													4	69					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18390764	18390764	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:18390764C>T	ENST00000338745.6	-	11	3924	c.2190G>A	c.(2188-2190)gaG>gaA	p.E730E	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Silent_p.E762E|SATB1_ENST00000454909.2_Silent_p.E730E	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	730					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTTGGACACTCTCTTCCAAAT	0.408000													28	237					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140584	56140584	+	Silent	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr20:56140584A>G	ENST00000319441.4	+	10	1757	c.1593A>G	c.(1591-1593)ggA>ggG	p.G531G	PCK1_ENST00000543666.1_Silent_p.G214G	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	531					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAGGCTTTGGAGAGAACTCCA	0.557000													9	51					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24916415	24916415	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr22:24916415C>T	ENST00000413389.2	+	7	2241	c.648C>T	c.(646-648)tgC>tgT	p.C216C	UPB1_ENST00000326010.5_Silent_p.C284C|UPB1_ENST00000498140.1_3'UTR			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	284	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GCTTCACCTGCGCCATCAATC	0.612000													6	45					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27056181	27056181	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:27056181C>T	ENST00000324856.7	+	2	1548	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q393*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q10*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	393					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q393*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATGAGACCTCAGCCATATGG	0.527000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								15	117					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79650642	79650642	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:79650642T>A	ENST00000275034.4	-	40	5401	c.5234A>T	c.(5233-5235)aAg>aTg	p.K1745M	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1745					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATCATCTATCTTTTTTCGGTT	0.413000													13	270					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158534303	158534303	+	Silent	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:158534303T>A	ENST00000251527.5	-	17	2225	c.2160A>T	c.(2158-2160)tcA>tcT	p.S720S	ESYT2_ENST00000435514.2_Silent_p.S155S	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	748						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GCTCCTTGACTGAGATGTGGC	0.647000													6	59					0	0	1	0	0
ZNF587	84914	broad.mit.edu	37	19	58367545	58367545	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:58367545A>T	ENST00000339656.5	+	2	289	c.107A>T	c.(106-108)cAg>cTg	p.Q36L	ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.Q35L|ZNF587B_ENST00000316462.4_3'UTR|ZNF587_ENST00000419854.1_5'UTR|ZNF814_ENST00000597342.1_Intron|CTD-2583A14.10_ENST00000598031.1_Missense_Mutation_p.Q36L|ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		AGTGAGGCTCAGAGGTGCTTG	0.493000													12	109					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113775272	113775272	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:113775272C>G	ENST00000295878.3	-	1	188	c.42G>C	c.(40-42)agG>agC	p.R14S	KIAA1407_ENST00000545063.1_5'UTR|KIAA1407_ENST00000480588.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	14										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCAGCCCCATCCTTTTCTTTG	0.607000													18	182					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53615408	53615408	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chrX:53615408C>T	ENST00000342160.3	-	36	5005	c.4548G>A	c.(4546-4548)caG>caA	p.Q1516Q	HUWE1_ENST00000218328.8_Silent_p.Q1516Q|HUWE1_ENST00000262854.6_Silent_p.Q1516Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1516					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTGTGGCCATCTGACTTATCC	0.438000													4	20					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65197273	65197273	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:65197273C>G	ENST00000358691.5	-	7	567	c.401G>C	c.(400-402)aGa>aCa	p.R134T	HELZ_ENST00000580168.1_Missense_Mutation_p.R134T|HELZ_ENST00000580662.1_5'UTR	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGTTTTTAGTCTTGTCAAATC	0.338000											OREG0024677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	130					0	0	1	0	0
HINT2	84681	broad.mit.edu	37	9	35813690	35813690	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr9:35813690C>T	ENST00000259667.5	-	2	214	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	HINT2_ENST00000474908.1_5'UTR	NM_032593.2	NP_115982.1	Q9BX68	HINT2_HUMAN	histidine triad nucleotide binding protein 2	58	HIT.				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity			NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GTCCAGGATCCGGGAGAAGAT	0.572000											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	28					0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127254980	127254980	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:127254980C>T	ENST00000341640.2	-	2	495	c.290G>A	c.(289-291)cGc>cAc	p.R97H	PAX4_ENST00000463946.1_Missense_Mutation_p.R95H|PAX4_ENST00000338516.3_Missense_Mutation_p.R105H|PAX4_ENST00000378740.2_Missense_Mutation_p.R97H	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	105	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACAAAGCTGGCGTTGGATTTC	0.592000													7	71					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53209385	53209385	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:53209385A>C	ENST00000543227.1	-	6	1197	c.923T>G	c.(922-924)cTt>cGt	p.L308R	ZNF611_ENST00000453741.2_Missense_Mutation_p.L239R|ZNF611_ENST00000602162.1_Missense_Mutation_p.L239R|ZNF611_ENST00000595798.1_Missense_Mutation_p.L239R|ZNF611_ENST00000319783.1_Missense_Mutation_p.L308R|ZNF611_ENST00000540744.1_Missense_Mutation_p.L308R	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCCAGTATGAAGTCTACGATG	0.408000													7	230					0	0	1	0	0
C9orf156	51531	broad.mit.edu	37	9	100667250	100667250	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr9:100667250T>C	ENST00000375119.3	-	5	1167	c.1091A>G	c.(1090-1092)tAt>tGt	p.Y364C		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	364					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TGACTGAAAATATTTAAATGA	0.443000													12	75					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121658028	121658028	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:121658028C>G	ENST00000369075.3	+	2	325	c.253C>G	c.(253-255)Cag>Gag	p.Q85E	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	85	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TTACTTCTCTCAGGTATCAAG	0.468000													16	148					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25349873	25349873	+	RNA	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr15:25349873G>A	ENST00000546682.1	+	0	2343				SNHG14_ENST00000516123.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						TCTGTGAACTGAGGTCAAGCA	0.453000													6	63					0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24108426	24108426	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr14:24108426G>A	ENST00000250383.6	+	3	655	c.179G>A	c.(178-180)gGg>gAg	p.G60E	DHRS2_ENST00000344777.7_Missense_Mutation_p.G60E|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	38					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GCCCGGGACGGGGCCCACGTG	0.647000													32	147					0	0	1	0	0
SNHG7	84973	broad.mit.edu	37	9	139620605	139620605	+	RNA	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr9:139620605G>A	ENST00000414282.1	-	0	451				SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000362567.2_RNA																							CCCGAGCACTGAGTGTAGAAA	0.542000													12	85					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109617198	109617198	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr13:109617198T>C	ENST00000356711.2	+	20	2377	c.2251T>C	c.(2251-2253)Ttt>Ctt	p.F751L	MYO16_ENST00000357550.2_Missense_Mutation_p.F751L|MYO16_ENST00000457511.2_Missense_Mutation_p.F263L|MYO16_ENST00000251041.5_Missense_Mutation_p.F751L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	751	Myosin head-like 1.				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)			TTTGTTTAGCTTTTTGGTGAA	0.398000													15	134					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532951	42532951	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr18:42532951G>A	ENST00000282030.5	+	4	3942	c.3646G>A	c.(3646-3648)Gaa>Aaa	p.E1216K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1216						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCAGCACAGCGAAGCCGGCCA	0.542000									Schinzel-Giedion syndrome				7	68					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27059368	27059368	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:27059368G>T	ENST00000261191.7	-	16	2484	c.1948C>A	c.(1948-1950)Cca>Aca	p.P650T	ASUN_ENST00000539625.1_Missense_Mutation_p.P549T	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	650					cell division|mitosis|regulation of mitotic cell cycle		protein binding										AACGACACTGGCCCTAGTGTT	0.318000													5	137					3.59834e-05	3.78474e-05	1	1	0
YWHAQ	10971	broad.mit.edu	37	2	9731542	9731542	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:9731542C>T	ENST00000381844.4	-	2	560	c.397G>A	c.(397-399)Gcg>Acg	p.A133T	YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Missense_Mutation_p.A133T			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	133					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		TCACCACACGCAACTTCAGCA	0.348000													8	94					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65860683	65860683	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:65860683A>G	ENST00000395325.3	+	13	1992	c.1835A>G	c.(1834-1836)cAg>cGg	p.Q612R	DNAJC6_ENST00000263441.7_Missense_Mutation_p.Q599R|DNAJC6_ENST00000371069.4_Missense_Mutation_p.Q669R	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	612	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCCTTTCTCCAGCCAACAAGA	0.438000													13	213					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968034	4968034	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chrY:4968034T>A	ENST00000333703.4	+	5	2895	c.2382T>A	c.(2380-2382)aaT>aaA	p.N794K	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.N805K|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.N805K	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	805	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGTTCGTGAATGAGTCAGTGA	0.423000													11	68					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47931385	47931385	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr21:47931385G>A	ENST00000318711.7	+	8	1146	c.963G>A	c.(961-963)ctG>ctA	p.L321L	DIP2A_ENST00000427143.2_Silent_p.L256L|DIP2A_ENST00000457905.3_Silent_p.L320L|DIP2A_ENST00000400274.1_Silent_p.L316L|DIP2A_ENST00000466639.1_Silent_p.L277L|DIP2A_ENST00000435722.3_Silent_p.L320L|DIP2A_ENST00000417564.2_Silent_p.L320L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	320					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGAGTGTGCTGAGAGGGGAGC	0.552000													4	32					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44664045	44664045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:44664045C>T	ENST00000222673.5	+	2	145	c.103C>T	c.(103-105)Caa>Taa	p.Q35*	OGDH_ENST00000443864.2_Nonsense_Mutation_p.Q35*|OGDH_ENST00000444676.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000439616.2_Nonsense_Mutation_p.Q35*|OGDH_ENST00000447398.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000449767.1_Nonsense_Mutation_p.Q35*	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	35					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.Q35K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TAGGACATTTCAACAGATTCG	0.468000													8	220					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161302638	161302638	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:161302638A>C	ENST00000428797.2	+	7	904	c.549A>C	c.(547-549)aaA>aaC	p.K183N	GABRA1_ENST00000393943.4_Missense_Mutation_p.K183N|GABRA1_ENST00000437025.2_Missense_Mutation_p.K183N|GABRA1_ENST00000444819.1_Missense_Mutation_p.K183N|GABRA1_ENST00000023897.6_Missense_Mutation_p.K183N|GABRA1_ENST00000420560.1_Missense_Mutation_p.K183N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	183					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GCCCACTAAAATTTGGAAGTT	0.398000													7	107					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75387378	75387378	+	Missense_Mutation	SNP	G	G	A	rs147147941		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr9:75387378G>A	ENST00000297784.5	+	13	1331	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	TMC1_ENST00000340019.3_Missense_Mutation_p.R264Q|TMC1_ENST00000396237.3_Missense_Mutation_p.R264Q	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	264					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						GACAATAAACGAACAATTGGA	0.408000													32	216					0	0	1	0	0
HOXC13	3229	broad.mit.edu	37	12	54338863	54338863	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:54338863G>A	ENST00000243056.3	+	2	972	c.816G>A	c.(814-816)ctG>ctA	p.L272L		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	272						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						AGGTGCAGCTGAAGGAGCTAG	0.612000			T	NUP98	AML								12	137					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73462856	73462856	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:73462856G>A	ENST00000252034.7	+	15	1168	c.769G>A	c.(769-771)Gca>Aca	p.A257T	ELN_ENST00000458204.1_Missense_Mutation_p.A247T|ELN_ENST00000357036.5_Missense_Mutation_p.A262T|ELN_ENST00000380576.5_Missense_Mutation_p.A257T|ELN_ENST00000358929.4_Missense_Mutation_p.A257T|ELN_ENST00000380584.4_Missense_Mutation_p.A243T|ELN_ENST00000429192.1_Missense_Mutation_p.A262T|ELN_ENST00000414324.1_Missense_Mutation_p.A252T|ELN_ENST00000445912.1_Missense_Mutation_p.A257T|ELN_ENST00000380553.4_Missense_Mutation_p.A140T|ELN_ENST00000380575.4_Missense_Mutation_p.A247T|ELN_ENST00000320399.6_Missense_Mutation_p.A257T|ELN_ENST00000380562.4_Missense_Mutation_p.A257T|ELN_ENST00000320492.7_Missense_Mutation_p.A221T	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	257	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	Ggcagcagcagcagcggcagc	0.612000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						8	115					0	0	1	0	0
GBAP1	2630	broad.mit.edu	37	1	155188254	155188254	+	RNA	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:155188254G>A	ENST00000486869.1	-	0	112					NR_002188.2																						TACCCTACCCGAAGGCTTGGG	0.552000													9	125					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21967685	21967685	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr14:21967685C>T	ENST00000298717.4	-	8	1554	c.1403G>A	c.(1402-1404)cGg>cAg	p.R468Q		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	468					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ACGGCCTGTCCGAATGATGCG	0.448000													17	163					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103176	168103176	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:168103176G>A	ENST00000409195.1	+	9	5363	c.5274G>A	c.(5272-5274)ctG>ctA	p.L1758L	XIRP2_ENST00000409273.1_Silent_p.L1536L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L1758L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1583					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						TGGATTATCTGAAACAACTCC	0.378000													4	65					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153296	5153296	+	Missense_Mutation	SNP	C	C	T	rs142969856	byFrequency	TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:5153296C>T	ENST00000307388.1	-	1	576	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E193K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CGGATATCTTCAGTAGCCAGC	0.403000													7	126					0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39122301	39122301	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr22:39122301C>T	ENST00000216044.5	+	8	1490	c.1257C>T	c.(1255-1257)ggC>ggT	p.G419G	GTPBP1_ENST00000460605.1_3'UTR	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	419					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CACTGAGAGGCCTGATCAAGC	0.582000													4	42					0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35656390	35656390	+	Silent	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:35656390T>A	ENST00000357214.5	-	3	1322	c.1224A>T	c.(1222-1224)ggA>ggT	p.G408G		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	408	RRM 2.				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTGTAGATCTTCCACGATCAT	0.413000			T	TFE3	papillary renal cell								5	113					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115815870	115815870	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:115815870C>T	ENST00000343348.6	-	12	1985	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	SEMA6A_ENST00000257414.8_Missense_Mutation_p.E400K|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.E400K|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	400	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGCACTGCCTCATCCATGAGC	0.498000													5	103					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34770228	34770228	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr20:34770228C>G	ENST00000338074.2	+	6	686	c.525C>G	c.(523-525)ttC>ttG	p.F175L	EPB41L1_ENST00000373946.3_Missense_Mutation_p.F144L|EPB41L1_ENST00000441639.1_Missense_Mutation_p.F113L|EPB41L1_ENST00000373941.1_Missense_Mutation_p.F175L|EPB41L1_ENST00000373950.2_Missense_Mutation_p.F78L|EPB41L1_ENST00000202028.5_Missense_Mutation_p.F113L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	175	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CAGTCAAGTTCTACCCGCCTG	0.572000													7	105					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457692	45457692	+	RNA	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:45457692G>C	ENST00000548424.1	+	0	448																											TATGGACTCTGAGCCACTCTC	0.483000													6	79					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174794	63174794	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr14:63174794G>T	ENST00000322893.7	-	11	2667	c.2399C>A	c.(2398-2400)cCa>cAa	p.P800Q	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	800					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)		CATTCTTATTGGGCTGTTGAC	0.438000													8	187					0.000157383	0.000164425	1	1	0
VGLL2	245806	broad.mit.edu	37	6	117589356	117589356	+	Nonsense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:117589356T>A	ENST00000326274.5	+	2	283	c.93T>A	c.(91-93)taT>taA	p.Y31*	VGLL2_ENST00000352536.3_Nonsense_Mutation_p.Y31*	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	31					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		AACTAGCCTATTATTCCAAAA	0.473000													12	293					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43173108	43173108	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:43173108C>T	ENST00000252050.4	+	24	4824	c.4740C>T	c.(4738-4740)ccC>ccT	p.P1580P	CUL9_ENST00000372647.2_Silent_p.P1580P|CUL9_ENST00000354495.3_Silent_p.P1470P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1580					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACCTGGAACCCATTATGGTCC	0.547000													13	250					0	0	1	0	0
ZNF529	57711	broad.mit.edu	37	19	37037818	37037818	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:37037818G>T	ENST00000334116.7	-	6	1937	c.1327C>A	c.(1327-1329)Cat>Aat	p.H443N	ZNF529_ENST00000591340.1_Missense_Mutation_p.H548N	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					CAAGTAAGATGCCCAACAACA	0.343000													5	70					1.23904e-05	1.30912e-05	1	1	0
CDH3	1001	broad.mit.edu	37	16	68712041	68712041	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr16:68712041G>C	ENST00000264012.4	+	4	795	c.251G>C	c.(250-252)aGa>aCa	p.R84T	CDH3_ENST00000581171.1_Missense_Mutation_p.R29T|CDH3_ENST00000429102.2_Missense_Mutation_p.R84T	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	84					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTGCAGGAAAGAAGGTCACTG	0.458000													4	46					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47117201	47117201	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr16:47117201C>G	ENST00000562435.1	-	9	1893	c.1509G>C	c.(1507-1509)gaG>gaC	p.E503D	NETO2_ENST00000303155.5_Missense_Mutation_p.E496D	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	503						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CACAGGGAATCTCCTCCATTA	0.428000										HNSCC(25;0.065)			5	130					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141532	29141532	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:29141532G>A	ENST00000377167.2	+	1	222	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	40					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						TGATGACACTGACAGGAAACC	0.423000													23	185					0	0	1	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37474713	37474713	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:37474713C>G	ENST00000002125.4	+	9	1091	c.1051C>G	c.(1051-1053)Ctg>Gtg	p.L351V	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.L253V	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		AGTAGCCTCTCTGGGCCCAAT	0.383000													5	80					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89405061	89405061	+	RNA	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:89405061A>G	ENST00000532352.1	+	0	1001							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CTAGACAGATATGTCATTCTG	0.413000													4	158					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164758786	164758786	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:164758786T>A	ENST00000264382.3	-	18	2163	c.2101A>T	c.(2101-2103)Act>Tct	p.T701S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	701	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)	TAAAACAGAGTGTAGAGGAAG	0.358000										HNSCC(35;0.089)			8	176					0	0	1	0	0
RBM4B	83759	broad.mit.edu	37	11	66436698	66436698	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:66436698C>G	ENST00000525754.1	-	2	1145	c.477G>C	c.(475-477)caG>caC	p.Q159H	RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000524637.1_3'UTR|RBM4B_ENST00000310046.4_Missense_Mutation_p.Q159H			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	159					circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						AGCAGCCACTCTGGTCTCCCA	0.498000													3	85					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117878849	117878849	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr8:117878849G>A	ENST00000297338.2	-	2	407	c.120C>T	c.(118-120)agC>agT	p.S40S	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	40					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TACTCTCCACGCTGCTCTCTA	0.388000													4	102					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538057	27538057	+	RNA	SNP	G	G	A	rs148958496	by1000genomes	TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:27538057G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TGCAGAGTCTGAACCTGGTCT	0.507000													7	208					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130341208	130341208	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr9:130341208C>T	ENST00000373314.3	-	1	60	c.9G>A	c.(7-9)tgG>tgA	p.W3*		NM_001035534.1	NP_001030611.1	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	0							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TACCTCCCATCCACCCCATCC	0.537000													5	201					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256547	140256547	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:140256547G>A	ENST00000398631.2	+	1	1490	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGAGCGGCGGGTGGGC	0.672000													11	119					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122130285	122130285	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:122130285C>A	ENST00000334010.7	-	11	2123	c.1702G>T	c.(1702-1704)Gta>Tta	p.V568L	CADPS2_ENST00000449022.2_Missense_Mutation_p.V568L|CADPS2_ENST00000412584.2_Missense_Mutation_p.V568L|CADPS2_ENST00000313070.7_Missense_Mutation_p.V568L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	568	PH.				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						GCAAAGATTACAGTATCTCCT	0.383000													8	121					0.00307968	0.0031609	1	1	0
KCNK3	3777	broad.mit.edu	37	2	26916025	26916025	+	Splice_Site	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:26916025C>T	ENST00000302909.3	+	1	407	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	94					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACCACCATCGGTAACGGCT	0.751000													5	52					0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99850548	99850548	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:99850548C>T	ENST00000369239.5	-	11	1399	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	PNISR_ENST00000438806.1_Missense_Mutation_p.E399K	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	399						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCACTCCTCTCATCTTCACTG	0.398000													5	167					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858342	9858342	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr16:9858342G>T	ENST00000396573.2	-	14	3368	c.3059C>A	c.(3058-3060)tCc>tAc	p.S1020Y	GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1020Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1020Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1020Y|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1020Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S863Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1020					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGGCGTATGGAATCCACGGA	0.532000													10	142					0.000673444	0.000698885	1	1	0
SLC22A3	6581	broad.mit.edu	37	6	160819069	160819069	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:160819069T>C	ENST00000392145.1	+	2	515	c.488T>C	c.(487-489)cTc>cCc	p.L163P	SLC22A3_ENST00000275300.2_Missense_Mutation_p.L163P			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	163						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		ATCCTGAACCTCGGCTTCCTG	0.463000													4	123					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4875528	4875528	+	Splice_Site	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:4875528G>A	ENST00000361571.5	-	15	3215	c.2804C>T	c.(2803-2805)cCg>cTg	p.P935L	CAMTA2_ENST00000381311.5_Splice_Site_p.P938L|CAMTA2_ENST00000358183.4_Splice_Site_p.P936L|CAMTA2_ENST00000348066.3_Splice_Site_p.P936L|CAMTA2_ENST00000414043.3_Splice_Site_p.P959L|CAMTA2_ENST00000572543.1_Splice_Site_p.P941L	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	936					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AAGCAGTACCGGGATCACATC	0.562000													4	77					0	0	1	0	0
ZNF321P	399669	broad.mit.edu	37	19	53432648	53432648	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:53432648C>T	ENST00000391777.3	-	4	331	c.210G>A	c.(208-210)atG>atA	p.M70I	ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF816_ENST00000549216.1_Start_Codon_SNP_p.M1I|ZNF816_ENST00000434371.2_Missense_Mutation_p.M70I																endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						ACTCCTTCATCATGCATTTGG	0.348000													16	208					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107216267	107216267	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr4:107216267C>T	ENST00000273980.5	-	4	697	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	TBCK_ENST00000394708.2_Missense_Mutation_p.E84K|TBCK_ENST00000361687.4_Missense_Mutation_p.E84K|TBCK_ENST00000432496.2_Missense_Mutation_p.E84K|TBCK_ENST00000394706.3_Missense_Mutation_p.E84K			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase		Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GGTTTCCTTTCTCGAAGCAAG	0.378000													6	173					0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55994180	55994180	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:55994180C>T	ENST00000391718.2	+	3	2173	c.1608C>T	c.(1606-1608)tgC>tgT	p.C536C	ZNF628_ENST00000598519.1_Silent_p.C540C	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	536						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCTACGCCTGCGGGGAGTGTG	0.687000													12	50					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49227663	49227663	+	Silent	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:49227663T>G	ENST00000340334.7	-	3	503	c.135A>C	c.(133-135)gcA>gcC	p.A45A	FOLH1_ENST00000533034.1_Silent_p.A45A|FOLH1_ENST00000356696.3_Silent_p.A60A|FOLH1_ENST00000256999.2_Silent_p.A60A|FOLH1_ENST00000343844.4_5'UTR	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	60					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CATCCAAAAATGCTTTCATAT	0.323000													5	122					0	0	1	0	0
C4A	720	broad.mit.edu	37	6	31963874	31963874	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:31963874G>C	ENST00000428956.2	+	26	3457	c.3373G>C	c.(3373-3375)Gac>Cac	p.D1125H	C4A_ENST00000498271.1_Missense_Mutation_p.D1125H	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		TCCAGTGTTAGACAGGAGCAT	0.607000													13	141					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16641726	16641726	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:16641726G>A	ENST00000375592.3	-	2	404	c.188C>T	c.(187-189)tCa>tTa	p.S63L	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	63	F-box.									autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CTGATACGGTGAGAGAAAGGA	0.463000													16	85					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29095920	29095920	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr22:29095920T>A	ENST00000544772.1	-	10	1687	c.251A>T	c.(250-252)gAa>gTa	p.E84V	CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.E214V|CHEK2_ENST00000348295.3_Missense_Mutation_p.E305V|CHEK2_ENST00000403642.1_Missense_Mutation_p.E214V|CHEK2_ENST00000328354.6_Missense_Mutation_p.E305V|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.E305V|CHEK2_ENST00000382566.1_Silent_p.G284G|CHEK2_ENST00000382580.2_Missense_Mutation_p.E348V|CHEK2_ENST00000404276.1_Missense_Mutation_p.E305V|CHEK2_ENST00000402731.1_Missense_Mutation_p.E305V	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	305					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CTCTCCCCCTTCCATCCTGAA	0.443000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					12	288					0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156746102	156746102	+	Nonsense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:156746102A>T	ENST00000470811.1	+	13	2002	c.667A>T	c.(667-669)Aag>Tag	p.K223*	LEKR1_ENST00000356539.4_Nonsense_Mutation_p.K527*			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	108										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAACTTGAGGAAGGAAATGGA	0.373000													4	38					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725481	106725481	+	RNA	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr14:106725481A>G	ENST00000390609.2	-	0	149																											CCCAGACTCCAACAGCTGCAC	0.542000													9	357					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56525269	56525269	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:56525269C>T	ENST00000394048.5	+	6	987	c.723C>T	c.(721-723)ggC>ggT	p.G241G	ESYT1_ENST00000267113.4_Silent_p.G241G|ESYT1_ENST00000541590.1_Silent_p.G241G	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	241						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AGCTACATGGCGTTTTGCGGG	0.517000													11	291					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27002138	27002138	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:27002138A>G	ENST00000314616.6	+	5	779	c.496A>G	c.(496-498)Atg>Gtg	p.M166V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.M166V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	166	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGAGGCCCCCATGGCTCCTCC	0.527000													9	79					0	0	1	0	0
APMAP	57136	broad.mit.edu	37	20	24950942	24950942	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr20:24950942C>G	ENST00000217456.2	-	6	894	c.604G>C	c.(604-606)Gat>Cat	p.D202H	APMAP_ENST00000447138.1_Missense_Mutation_p.D202H	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein																		ACTGTAAGATCATTCACAAAG	0.443000													7	174					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43819769	43819769	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr15:43819769T>C	ENST00000382031.1	+	5	6843	c.6812T>C	c.(6811-6813)tTc>tCc	p.F2271S	MAP1A_ENST00000300231.5_Missense_Mutation_p.F2033S|MAP1A_ENST00000399453.1_Missense_Mutation_p.F2033S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2033						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACTCCAACCTTCAGCTATGCA	0.607000													9	107					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8989600	8989600	+	Splice_Site	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr16:8989600T>A	ENST00000344836.4	-	27	3018		c.e27-2		USP7_ENST00000381886.4_Splice_Site|USP7_ENST00000535863.1_Splice_Site	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)						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						TCTAGCAGCCTGAACAGAGAG	0.318000													3	51					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975467	118975467	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr4:118975467G>A	ENST00000296499.5	+	2	805	c.402G>A	c.(400-402)gaG>gaA	p.E134E	NDST3_ENST00000433996.2_Silent_p.E134E	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	134	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TTATTTATGAGAATATTTTAA	0.348000													4	50					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823529	97823529	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:97823529C>T	ENST00000297293.5	+	11	4045	c.3752C>T	c.(3751-3753)tCc>tTc	p.S1251F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1251					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCCAGCCACTCCGAGGGCCCG	0.612000													7	32					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39866339	39866339	+	Silent	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:39866339C>G	ENST00000314471.6	+	7	1752	c.717C>G	c.(715-717)ctC>ctG	p.L239L	SAMD4B_ENST00000598913.1_Silent_p.L239L|SAMD4B_ENST00000596368.1_Silent_p.L239L	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	239							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCATGTCACTCATCCCTACAA	0.612000													8	301					0	0	1	0	0
CLINT1	9685	broad.mit.edu	37	5	157240233	157240233	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:157240233C>G	ENST00000523094.1	-	5	506	c.301G>C	c.(301-303)Gag>Cag	p.E101Q	CLINT1_ENST00000411809.2_Missense_Mutation_p.E119Q|CLINT1_ENST00000530742.1_Missense_Mutation_p.E101Q|CLINT1_ENST00000523908.1_Missense_Mutation_p.E119Q|CLINT1_ENST00000296951.5_Missense_Mutation_p.E101Q	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	119	ENTH.				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTACCATGCTCATCTATGAGG	0.363000													9	54					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2695596	2695596	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr4:2695596C>T	ENST00000324666.5	+	14	2565	c.2214C>T	c.(2212-2214)gtC>gtT	p.V738V	FAM193A_ENST00000505311.1_Silent_p.V738V|FAM193A_ENST00000502458.1_Silent_p.V760V|FAM193A_ENST00000382839.3_Silent_p.V738V|FAM193A_ENST00000545951.1_Silent_p.V738V	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	738										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CTCCAAGTGTCTGCAGGTGAG	0.567000													4	74					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29161444	29161444	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:29161444G>C	ENST00000321990.4	+	2	723	c.345G>C	c.(343-345)aaG>aaC	p.K115N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	115					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGAAAAGAAAGAGGGTTAATT	0.323000													6	180					0	0	1	0	0
DUSP15	128853	broad.mit.edu	37	20	30450395	30450395	+	Silent	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr20:30450395A>G	ENST00000278979.3	-	6	481	c.405T>C	c.(403-405)ttT>ttC	p.F135F	DUSP15_ENST00000398084.2_Silent_p.F35F|DUSP15_ENST00000398083.1_Silent_p.F35F|DUSP15_ENST00000375966.4_Silent_p.F135F|DUSP15_ENST00000486996.1_Silent_p.F35F|DUSP15_ENST00000339738.5_Silent_p.F138F			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	135						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGCCCAGCCAAACTCTTCAA	0.607000													5	95					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858759	9858759	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr16:9858759T>G	ENST00000396573.2	-	14	2951	c.2642A>C	c.(2641-2643)aAg>aCg	p.K881T	GRIN2A_ENST00000562109.1_Missense_Mutation_p.K881T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K881T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K881T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K881T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K724T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	881					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCTGGAGACTTCTTCTTTTC	0.468000													5	117					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18390769	18390769	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:18390769C>T	ENST00000338745.6	-	11	3919	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.E761K|SATB1_ENST00000454909.2_Missense_Mutation_p.E729K	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	729					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ACACTCTCTTCCAAATCCTTC	0.418000													30	235					0	0	1	0	0
TMEM205	374882	broad.mit.edu	37	19	11456266	11456266	+	Silent	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:11456266C>G	ENST00000354882.5	-	1	456	c.30G>C	c.(28-30)ctG>ctC	p.L10L	TMEM205_ENST00000447337.1_Silent_p.L10L|CCDC159_ENST00000588790.1_Intron|TMEM205_ENST00000586218.1_Intron|TMEM205_ENST00000593256.2_Silent_p.L10L|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000589555.1_Silent_p.L10L|TMEM205_ENST00000586956.1_Silent_p.L10L|TMEM205_ENST00000588560.1_Silent_p.L10L|CCDC159_ENST00000587100.1_Intron|TMEM205_ENST00000587948.1_Silent_p.L10L|TMEM205_ENST00000586590.1_Silent_p.L10L			Q6UW68	TM205_HUMAN	transmembrane protein 205	10						integral to membrane				endometrium(1)|lung(1)	2						CCATCTTAATCAGGCCTCCTA	0.567000													4	46					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149901560	149901560	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:149901560G>C	ENST00000439741.2	-	16	2146	c.1896C>G	c.(1894-1896)atC>atG	p.I632M	MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.I560M|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	632	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCCAGAGCCTGATCTGGGGTC	0.587000													4	172					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043187	71043187	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:71043187C>T	ENST00000272367.2	-	4	1402	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	CLEC4F_ENST00000426626.1_Silent_p.Q442Q	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	442					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TCAGGCGACTCTGCTCCTGCT	0.522000													5	70					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101624450	101624450	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:101624450C>G	ENST00000409318.1	-	20	3431	c.3301G>C	c.(3301-3303)Gaa>Caa	p.E1101Q	RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409650.1_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.E1086Q|RPL31_ENST00000409028.4_Intron	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	1086					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						AAAATATGTTCAAGGGAGACA	0.463000													4	73					0	0	1	0	0
RPL30	6156	broad.mit.edu	37	8	99057291	99057291	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr8:99057291G>C	ENST00000521291.1	-	2	193	c.47C>G	c.(46-48)tCt>tGt	p.S16C	RPL30_ENST00000523172.1_Intron|RPL30_ENST00000518164.1_5'UTR|RPL30_ENST00000287038.3_Missense_Mutation_p.S16C|RPL30_ENST00000396070.2_Missense_Mutation_p.S16C			P62888	RL30_HUMAN	ribosomal protein L30	16					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			TTGGAGCCTAGAGTTGATCGA	0.478000													7	321					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40843809	40843809	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:40843809A>G	ENST00000254691.5	+	2	1038	c.839A>G	c.(838-840)gAa>gGa	p.E280G	CARD6_ENST00000381677.3_Missense_Mutation_p.E280G	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	280	Asp/Glu-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAAAGTATAGAAGGTATGGAA	0.398000													4	28					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112357176	112357176	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:112357176A>T	ENST00000206423.3	-	2	2530	c.1577T>A	c.(1576-1578)gTg>gAg	p.V526E	CCDC80_ENST00000439685.2_Missense_Mutation_p.V526E	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	526	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AACATTCCCCACCTGCAGCTC	0.448000													4	65					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196695907	196695907	+	Silent	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:196695907T>C	ENST00000367429.4	+	14	2313	c.2073T>C	c.(2071-2073)tgT>tgC	p.C691C		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	691	Sushi 12.				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						AGAGTACCTGTGGAGATATAC	0.343000													5	72					0	0	1	0	0
PTS	5805	broad.mit.edu	37	11	112104239	112104239	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:112104239C>T	ENST00000280362.3	+	6	478	c.399C>T	c.(397-399)taC>taT	p.Y133Y	PTS_ENST00000525803.1_3'UTR|PTS_ENST00000524931.1_Silent_p.Y65Y	NM_000317.2	NP_000308.1	Q03393	PTPS_HUMAN	6-pyruvoyltetrahydropterin synthase	133					cellular amino acid metabolic process|central nervous system development|tetrahydrobiopterin biosynthetic process	mitochondrion	6-pyruvoyltetrahydropterin synthase activity|metal ion binding			breast(1)|large_intestine(1)	2		all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519)		TAAAAGTATACGAAACTGACA	0.333000													4	77					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21721898	21721898	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:21721898A>G	ENST00000261195.2	-	5	978	c.724T>C	c.(724-726)Tac>Cac	p.Y242H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	242					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	p.Y242N(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCATGCAGTACCGGTGGTAA	0.438000													8	109					0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101717853	101717853	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr8:101717853C>T	ENST00000318607.5	-	12	2779	c.1651G>A	c.(1651-1653)Gca>Aca	p.A551T	PABPC1_ENST00000519004.1_Missense_Mutation_p.A506T|PABPC1_ENST00000522387.1_Missense_Mutation_p.A519T	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	551	PABC.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GGGGCAGATGCCAACATGGAA	0.423000													22	44					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25144925	25144925	+	Silent	SNP	G	G	A	rs146639297		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr22:25144925G>A	ENST00000332271.5	-	12	1814	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S	PIWIL3_ENST00000527701.1_Silent_p.S357S|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.S357S	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	466					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTCCCGGGACGGACAAAAAAT	0.358000													8	127					0	0	1	0	0
APOA1BP	128240	broad.mit.edu	37	1	156563378	156563378	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:156563378G>A	ENST00000368233.3	+	5	722	c.695G>A	c.(694-696)aGa>aAa	p.R232K	APOA1BP_ENST00000368235.3_Intron|APOA1BP_ENST00000368234.3_Intron			Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	229	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGTGGGGGAGATTGGGGCCC	0.572000													8	34					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21454134	21454134	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:21454134A>T	ENST00000307378.6	-	8	1379	c.659T>A	c.(658-660)gTt>gAt	p.V220D	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.V88D|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.V220D|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.V218D|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.V88D	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	220			V -> I (in a colorectal cancer sample; somatic mutation).		bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GTCAACATAAACATTTGCACA	0.313000													15	105					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54744750	54744750	+	Silent	SNP	G	G	A	rs140883375	by1000genomes	TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:54744750G>A	ENST00000440558.2	-	5	960	c.912C>T	c.(910-912)tcC>tcT	p.S304S	LILRA6_ENST00000396365.2_Silent_p.S304S|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Silent_p.S304S|LILRA6_ENST00000245621.5_Silent_p.S304S					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCGACCACTCGGAGGAGAGGT	0.687000													12	108					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46890667	46890667	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:46890667T>C	ENST00000378623.1	-	32	4951	c.4709A>G	c.(4708-4710)tAc>tGc	p.Y1570C	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1570					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTCTGTCCAGTAGATCCACCT	0.483000													5	32					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			18	138					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56485124	56485124	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:56485124G>C	ENST00000291971.3	+	7	2712	c.2641G>C	c.(2641-2643)Gat>Cat	p.D881H	NLRP8_ENST00000590542.1_Missense_Mutation_p.D862H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	881						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGCCTTGAAAGATGAAGGGGC	0.502000													9	165					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715925	101715925	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:101715925T>A	ENST00000342239.3	-	4	1397	c.1306A>T	c.(1306-1308)Agc>Tgc	p.S436C	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.S436C			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	436					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGCGGGTGGCTCCCTCCCACT	0.488000													6	136					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956521	143956521	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr8:143956521A>G	ENST00000292427.4	-	8	1282	c.1250T>C	c.(1249-1251)tTc>tCc	p.F417S	CYP11B1_ENST00000377675.3_Missense_Mutation_p.F488S|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	417					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGGCCTCGGGAACAAGGCGGG	0.627000									Familial Hyperaldosteronism type I				5	101					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509750	71509750	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr4:71509750C>G	ENST00000396073.3	+	9	2888	c.2607C>G	c.(2605-2607)agC>agG	p.S869R	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	869					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TTCACCTAAGCCAGAGAGGCT	0.478000													8	91					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128620040	128620040	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:128620040C>T	ENST00000393245.1	-	15	2380	c.2007G>A	c.(2005-2007)caG>caA	p.Q669Q	TNPO3_ENST00000471234.1_Silent_p.Q571Q|TNPO3_ENST00000482320.1_Silent_p.Q569Q|TNPO3_ENST00000265388.5_Silent_p.Q635Q|TNPO3_ENST00000471166.1_Silent_p.Q669Q	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	635					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GTATGACTTTCTGACACGGAT	0.438000													6	70					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70645939	70645939	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:70645939G>C	ENST00000298596.6	+	3	2470	c.2387G>C	c.(2386-2388)aGa>aCa	p.R796T	STOX1_ENST00000399169.4_Missense_Mutation_p.R796T|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R686T|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	796						cytoplasm|nucleolus	DNA binding	p.R796I(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GTGCTTAAAAGAAATGAATGC	0.473000													7	81					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967059	81967059	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr4:81967059C>G	ENST00000282701.2	+	2	804	c.484C>G	c.(484-486)Cag>Gag	p.Q162E		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	162					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GAAACACATTCAGATTGATCT	0.453000													6	121					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55693510	55693510	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:55693510C>T	ENST00000376350.3	-	19	3094	c.3072G>A	c.(3070-3072)gtG>gtA	p.V1024V	PTPRH_ENST00000263434.5_Silent_p.V846V	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1024	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGTGCGACCCACGCCAGCAC	0.587000													5	90					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161300307	161300307	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:161300307G>T	ENST00000428797.2	+	6	795	c.440G>T	c.(439-441)cGg>cTg	p.R147L	GABRA1_ENST00000393943.4_Missense_Mutation_p.R147L|GABRA1_ENST00000437025.2_Missense_Mutation_p.R147L|GABRA1_ENST00000444819.1_Missense_Mutation_p.R147L|GABRA1_ENST00000023897.6_Missense_Mutation_p.R147L|GABRA1_ENST00000420560.1_Missense_Mutation_p.R147L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	147					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AAACTCCTGCGGATCACAGAG	0.468000													5	40					0.000602214	0.000626357	1	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140772493	140772493	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:140772493A>T	ENST00000398604.2	+	1	113	c.113A>T	c.(112-114)gAg>gTg	p.E38V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCAGAAGAGACGGACAAA	0.622000													5	58					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55051509	55051509	+	Splice_Site	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:55051509G>A	ENST00000371316.3	+	3	325	c.243G>A	c.(241-243)gcG>gcA	p.A81A	ACOT11_ENST00000343744.2_Splice_Site_p.A81A|ACOT11_ENST00000481208.1_Intron	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	81	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TGACACCAGCGGAGAGGCACG	0.587000													4	52					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66460432	66460432	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:66460432C>G	ENST00000404260.3	+	29	5742	c.5434C>G	c.(5434-5436)Ctc>Gtc	p.L1812V	MAST4_ENST00000261569.7_Missense_Mutation_p.L1615V|MAST4_ENST00000403666.1_Missense_Mutation_p.L1620V|MAST4_ENST00000403625.2_Missense_Mutation_p.L1809V|MAST4_ENST00000405643.1_Missense_Mutation_p.L1630V			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1812						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGACATTGCTCTCCTGTCCGG	0.597000													10	104					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180805846	180805846	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:180805846C>G	ENST00000367590.4	+	11	1693	c.1495C>G	c.(1495-1497)Cac>Gac	p.H499D	XPR1_ENST00000367589.3_Intron	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	499	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TTACAGCACTCACAAAGGTAT	0.393000													7	135					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170884925	170884925	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:170884925T>A	ENST00000436636.2	-	10	1252	c.908A>T	c.(907-909)aAg>aTg	p.K303M	TNIK_ENST00000284483.8_Missense_Mutation_p.K303M|TNIK_ENST00000475336.1_Missense_Mutation_p.K303M|TNIK_ENST00000538048.1_Missense_Mutation_p.K303M|TNIK_ENST00000357327.5_Missense_Mutation_p.K303M|TNIK_ENST00000341852.6_Missense_Mutation_p.K303M|TNIK_ENST00000488470.1_Missense_Mutation_p.K303M|TNIK_ENST00000470834.1_Missense_Mutation_p.K303M|TNIK_ENST00000369326.5_Missense_Mutation_p.K303M|TNIK_ENST00000460047.1_Missense_Mutation_p.K303M	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	303	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AATATGGTCCTTGAGTTGAAT	0.433000													4	44					0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886177	57886177	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:57886177G>A	ENST00000302610.1	-	1	739	c.740C>T	c.(739-741)gCt>gTt	p.A247V	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				AAGGGCCACAGCAGTGATGTG	0.463000													5	72					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10102505	10102505	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chrX:10102505C>T	ENST00000380861.4	+	19	3023	c.2632C>T	c.(2632-2634)Ctg>Ttg	p.L878L	WWC3_ENST00000454666.1_Silent_p.L878L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	878										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGATCTCTTTCTGGAAGAAGC	0.522000													15	127					0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149677422	149677422	+	Silent	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:149677422C>A	ENST00000328668.7	-	2	1644	c.1065G>T	c.(1063-1065)gtG>gtT	p.V355V		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	355						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCCAGACCCACCAGGGTCG	0.652000													10	61					7.48243e-07	8.01444e-07	1	1	0
RECK	8434	broad.mit.edu	37	9	36083430	36083430	+	Missense_Mutation	SNP	C	C	G	rs1046658		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr9:36083430C>G	ENST00000377966.3	+	8	1074	c.508C>G	c.(508-510)Cga>Gga	p.R170G	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	170	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AGCCATTTTTCGAACAGACTC	0.408000													6	163					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39764056	39764056	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:39764056G>A	ENST00000395670.3	-	2	471	c.52C>T	c.(52-54)Cca>Tca	p.P18S	KIF21A_ENST00000544797.2_Missense_Mutation_p.P18S|KIF21A_ENST00000541463.2_Missense_Mutation_p.P18S|KIF21A_ENST00000361961.3_Missense_Mutation_p.P18S|KIF21A_ENST00000361418.5_Missense_Mutation_p.P18S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	18	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCAAGCTGTGGTCTTATTCTG	0.348000													5	126					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138706964	138706964	+	Silent	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr9:138706964G>C	ENST00000389532.4	-	16	4549	c.4485C>G	c.(4483-4485)ccC>ccG	p.P1495P	CAMSAP1_ENST00000409386.3_Silent_p.P1506P|CAMSAP1_ENST00000312405.6_Silent_p.P1217P|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1495	CKK.					cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AATTCTTGTGGGGTTCGTTCA	0.378000													6	16					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337520	19337520	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:19337520C>T	ENST00000252575.6	+	7	1397	c.1298C>T	c.(1297-1299)cCt>cTt	p.P433L		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGCCCTACCCCTGGGGACCCC	0.617000													6	38					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176694604	176694604	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:176694604C>A	ENST00000439151.2	+	15	5233	c.5188C>A	c.(5188-5190)Cat>Aat	p.H1730N	NSD1_ENST00000361032.4_Missense_Mutation_p.H1627N|NSD1_ENST00000347982.4_Missense_Mutation_p.H1461N|NSD1_ENST00000354179.4_Missense_Mutation_p.H1461N	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1730					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)		TGCTGCTTTTCATCGTGAATG	0.443000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			6	178					3.59834e-05	3.78474e-05	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7667517	7667517	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:7667517G>A	ENST00000572933.1	+	20	4722	c.3262G>A	c.(3262-3264)Gtg>Atg	p.V1088M	DNAH2_ENST00000389173.2_Missense_Mutation_p.V1088M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1088	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTTGGCCAACGTGGAGACTCA	0.557000													16	101					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394686	154394686	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:154394686A>G	ENST00000435029.4	+	1	1427	c.1267A>G	c.(1267-1269)Aca>Gca	p.T423A		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	423					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GATCATTTTGACAGAGCAAGT	0.473000													5	118					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215345383	215345383	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:215345383T>C	ENST00000444842.2	+	5	830	c.680T>C	c.(679-681)aTc>aCc	p.I227T	KCNK2_ENST00000391895.2_Missense_Mutation_p.I223T|KCNK2_ENST00000391894.2_Missense_Mutation_p.I212T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	227							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ATCTCAACAATCATATTTATA	0.403000													5	96					0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	118812031	118812031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr8:118812031G>A	ENST00000378204.2	-	11	2967	c.2161C>T	c.(2161-2163)Cag>Tag	p.Q721*		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	721					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AGCCTCATCTGAGAGTGGATC	0.547000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				4	127					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047483	11047483	+	RNA	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr21:11047483T>C	ENST00000470054.1	-	0	771									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAACTTACTTTGCATTTCCAG	0.333000													11	282					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1635658	1635658	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:1635658G>A	ENST00000409644.1	+	5	4197	c.4197G>A	c.(4195-4197)gtG>gtA	p.V1399V	WDR81_ENST00000309182.5_Silent_p.V348V|WDR81_ENST00000419248.1_Silent_p.V172V|WDR81_ENST00000446363.1_Silent_p.V38V|WDR81_ENST00000437219.2_Silent_p.V196V|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Silent_p.V30V	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	172										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCTGTGTGTGAAAACCATCA	0.587000													6	93					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121434223	121434223	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:121434223T>A	ENST00000275159.6	-	29	3276	c.3277A>T	c.(3277-3279)Ata>Tta	p.I1093L	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Missense_Mutation_p.I1052L					TBC1 domain family, member 32																		GAAGATTTTATGGAAGTTTGC	0.318000													5	119					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325137	57325137	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:57325137T>G	ENST00000326441.9	-	10	5036	c.4673A>C	c.(4672-4674)cAa>cCa	p.Q1558P	PEG3_ENST00000423103.2_Missense_Mutation_p.Q1558P|PEG3_ENST00000593695.1_Missense_Mutation_p.Q1432P|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q1434P|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1558					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCATCAGCTTGATTGGCACC	0.527000													13	90					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877544	2877544	+	Silent	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:2877544T>G	ENST00000586426.1	+	4	672	c.585T>G	c.(583-585)acT>acG	p.T195T	ZNF556_ENST00000307635.2_Silent_p.T196T			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAGAAAACTCACAGTGGAG	0.448000													6	88					0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49699032	49699032	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:49699032T>G	ENST00000303221.5	-	6	1072	c.857A>C	c.(856-858)cAa>cCa	p.Q286P	EMB_ENST00000508934.1_Missense_Mutation_p.Q232P|EMB_ENST00000514111.1_Missense_Mutation_p.Q236P	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	286						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CTTTTTCTTTTGTGTGTACTT	0.338000													5	97					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114751217	114751217	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr13:114751217C>T	ENST00000334062.7	-	23	2419	c.2298G>A	c.(2296-2298)tcG>tcA	p.S766S	RASA3_ENST00000389544.4_Silent_p.S734S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	766					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGACGAACGTCGAATACTCCT	0.622000													4	98					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725738	140725738	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:140725738C>T	ENST00000253812.6	+	1	2138	c.2138C>T	c.(2137-2139)gCg>gTg	p.A713V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGCTGGCGCTCAGGCTG	0.682000													11	188					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141328311	141328311	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:141328311G>A	ENST00000286364.3	+	22	2310	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K	RASA2_ENST00000452898.1_Missense_Mutation_p.E760K|RASA2_ENST00000509118.1_3'UTR			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	759					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	p.E759K(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						CAGAGAAACAGAAAGAATTTA	0.279000													9	89					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71002416	71002416	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr9:71002416C>T	ENST00000396396.1	+	4	838	c.609C>T	c.(607-609)ctC>ctT	p.L203L	PGM5_ENST00000396392.1_Silent_p.L203L|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	203					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATCTTAACCTCCTTCGGACCA	0.438000													7	168					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371710	55371710	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:55371710A>T	ENST00000302231.4	-	1	164	c.140T>A	c.(139-141)aTc>aAc	p.I47N		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GCTGGACTTGATGGTCACAAT	0.398000													4	48					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58275806	58275806	+	Splice_Site	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:58275806C>T	ENST00000300896.4	-	27	3444		c.e27-1		USP32_ENST00000592339.1_Splice_Site	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32						protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTGTCCTCATCTGTATGTACA	0.443000													9	93					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152555860	152555860	+	Silent	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:152555860T>C	ENST00000367255.5	-	111	21073	c.20472A>G	c.(20470-20472)caA>caG	p.Q6824Q	SYNE1_ENST00000265368.4_Silent_p.Q6824Q|SYNE1_ENST00000448038.1_Silent_p.Q6753Q|SYNE1_ENST00000356820.4_Silent_p.Q1348Q|SYNE1_ENST00000341594.5_Silent_p.Q6436Q|SYNE1_ENST00000423061.1_Silent_p.Q6753Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6824					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)		CTGTCACAGATTGCTGAGTCC	0.388000										HNSCC(10;0.0054)			11	187					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36863230	36863230	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:36863230C>G	ENST00000325718.7	+	2	228	c.137C>G	c.(136-138)aCg>aGg	p.T46R	MLLT6_ENST00000579179.1_3'UTR|MLLT6_ENST00000378137.5_Missense_Mutation_p.T46R	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	46					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CAGGTGCCAACGGGACCCTGG	0.612000			T	MLL	AL								3	54					0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782178	134782178	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:134782178C>A	ENST00000503143.2	-	1	860	c.621G>T	c.(619-621)ttG>ttT	p.L207F	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	207	Ser-rich.					nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATAGTGATATCAAGTGCGAAG	0.557000													8	51					0.00307968	0.0031609	1	1	0
MYCBPAP	84073	broad.mit.edu	37	17	48593987	48593987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:48593987G>T	ENST00000323776.5	+	2	424	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	MYCBPAP_ENST00000436259.2_Nonsense_Mutation_p.E51*	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	51					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GGAAGAGCCTGAACCTGTTAG	0.468000													5	52					0.00116845	0.00120722	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31241670	31241670	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr18:31241670T>A	ENST00000269197.5	+	5	446	c.446T>A	c.(445-447)tTc>tAc	p.F149Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTGTCTTCCTTCCAGCAGCAC	0.413000													4	25					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153661707	153661707	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:153661707G>A	ENST00000368680.3	+	17	3080	c.2608G>A	c.(2608-2610)Gaa>Aaa	p.E870K		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	870					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGTGCAGGCCGAAGCCTTTGA	0.602000													4	120					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			35	250					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196659332	196659332	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:196659332G>A	ENST00000367429.4	+	9	1539	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E	CFH_ENST00000359637.2_Silent_p.E369E|CFH_ENST00000439155.2_Silent_p.E433E	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	433	Sushi 7.				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						CATGTATGGAGAATGGCTGGT	0.433000													7	60					0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93220240	93220240	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:93220240G>C	ENST00000446394.1	+	3	425	c.325G>C	c.(325-327)Gat>Cat	p.D109H	HECTD2_ENST00000298068.5_Missense_Mutation_p.D109H|HECTD2_ENST00000371681.4_Missense_Mutation_p.D109H	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	109					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TACATCTATGGATGCATCATC	0.378000													6	172					0	0	1	0	0
GNAI3	2773	broad.mit.edu	37	1	110125115	110125115	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:110125115A>C	ENST00000369851.4	+	5	628	c.518A>C	c.(517-519)gAt>gCt	p.D173A		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	173					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		ACTCAGCAAGATGTTCTTCGG	0.378000													4	120					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28345491	28345491	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:28345491G>A	ENST00000337532.5	-	17	1745	c.1469C>T	c.(1468-1470)tCa>tTa	p.S490L	MPP7_ENST00000540098.1_Missense_Mutation_p.S490L|MPP7_ENST00000375719.3_Missense_Mutation_p.S490L|MPP7_ENST00000375732.1_Missense_Mutation_p.S490L	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	490	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ACGCTCTATTGATGGAGGCTT	0.353000													14	149					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065702	9065702	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:9065702C>T	ENST00000397910.4	-	3	21947	c.21744G>A	c.(21742-21744)ttG>ttA	p.L7248L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7250	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						CTGTCTCCCTCAATTTAGGGC	0.493000													8	202					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179429057	179429057	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:179429057C>G	ENST00000589042.1	-	326	82026	c.81802G>C	c.(81802-81804)Gat>Cat	p.D27268H	TTN_ENST00000591111.1_Missense_Mutation_p.D25627H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D18395H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D18328H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D24700H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D18203H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25627	Fibronectin type-III 98.						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)			TCAATTTCATCTCTTGCAGTA	0.398000													11	95					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21541245	21541245	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr14:21541245C>T	ENST00000298694.4	+	2	172	c.45C>T	c.(43-45)gcC>gcT	p.A15A	ARHGEF40_ENST00000298693.3_Silent_p.A15A			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	15					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCACTCTCGCCGCCCTGTATC	0.597000													5	77					0	0	1	0	0
FAM76B	143684	broad.mit.edu	37	11	95512827	95512827	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:95512827C>G	ENST00000358780.5	-	7	948	c.636G>C	c.(634-636)caG>caC	p.Q212H	FAM76B_ENST00000536839.1_Missense_Mutation_p.Q212H	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	212										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAGTTTCATTCTGAATTGTTG	0.318000													5	115					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71211775	71211775	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:71211775G>C	ENST00000457410.1	+	6	975	c.836G>C	c.(835-837)aGa>aCa	p.R279T	ANKRD53_ENST00000441349.1_3'UTR|ANKRD53_ENST00000360589.3_Missense_Mutation_p.R313T|ANKRD53_ENST00000272421.6_3'UTR|AC007040.11_ENST00000606025.1_Intron			Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	313										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						GCTGCTATCAGAAAGTGGCTC	0.572000											OREG0014687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	92					0	0	1	0	0
DPAGT1	1798	broad.mit.edu	37	11	118968638	118968638	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:118968638G>A	ENST00000409993.2	-	8	2395	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	DPAGT1_ENST00000432443.2_Nonsense_Mutation_p.Q175*|DPAGT1_ENST00000354202.4_Nonsense_Mutation_p.Q282*			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	282					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TTGAACACCTGGGGCATGAAG	0.527000													7	96					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457166	110457166	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr8:110457166G>T	ENST00000378402.5	+	38	5172	c.5068G>T	c.(5068-5070)Ggt>Tgt	p.G1690C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1690	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCTTCTGCAGGTGTAAAAGT	0.443000										HNSCC(38;0.096)			7	162					8.12818e-05	8.5109e-05	1	1	0
RAPGEF1	2889	broad.mit.edu	37	9	134501394	134501394	+	Silent	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr9:134501394G>C	ENST00000372195.1	-	10	1860	c.1617C>G	c.(1615-1617)gtC>gtG	p.V539V	RAPGEF1_ENST00000372190.3_Silent_p.V540V|RAPGEF1_ENST00000372189.3_Silent_p.V522V			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	522					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCACAAATTCGACAGGGGCTG	0.542000													8	40					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93285476	93285476	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:93285476G>C	ENST00000322349.8	-	2	310	c.46C>G	c.(46-48)Caa>Gaa	p.Q16E	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	16					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCAGAACCTTGAGAGCCAACT	0.353000													5	133					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63185416	63185416	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:63185416G>C	ENST00000449996.3	+	10	730	c.658G>C	c.(658-660)Gtt>Ctt	p.V220L	RGS9_ENST00000262406.9_Missense_Mutation_p.V223L|RGS9_ENST00000443584.3_Missense_Mutation_p.V220L	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	223	G protein gamma.				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						ACAAACAGTCGTTGCTGTCAA	0.353000													13	173					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215901489	215901489	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:215901489C>T	ENST00000366943.2	-	61	12335	c.11949G>A	c.(11947-11949)ttG>ttA	p.L3983L	USH2A_ENST00000307340.3_Silent_p.L3983L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3983	Fibronectin type-III 25.				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)		TTGTCCAATTCAACAGAACTG	0.498000										HNSCC(13;0.011)			4	139					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144759951	144759951	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:144759951G>A	ENST00000367545.3	+	11	1312	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	438	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACACTCACAGAGGAGCGCAT	0.463000													6	56					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170047	90170047	+	Silent	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr4:90170047T>C	ENST00000609438.1	-	2	1733	c.1215A>G	c.(1213-1215)caA>caG	p.Q405Q	GPRIN3_ENST00000333209.4_Silent_p.Q405Q	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TATTTTCCCGTTGGAAAGCTG	0.527000													8	137					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17902480	17902480	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:17902480G>C	ENST00000448223.2	-	10	1044	c.775C>G	c.(775-777)Caa>Gaa	p.Q259E	SMC6_ENST00000402989.1_Missense_Mutation_p.Q259E|SMC6_ENST00000351948.4_Missense_Mutation_p.Q259E|SMC6_ENST00000381272.4_Missense_Mutation_p.Q285E	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	259					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCAATACTTTGAAAACGTTCC	0.343000													5	92					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46977694	46977694	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:46977694C>T	ENST00000371253.2	-	11	1692	c.1477G>A	c.(1477-1479)Gtt>Att	p.V493I	GPR110_ENST00000283297.5_Missense_Mutation_p.V296I|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	493					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTTTTGGAAACGGGTAGAATG	0.413000													12	123					0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161596035	161596035	+	Silent	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:161596035A>T	ENST00000294800.3	-	4	750	c.477T>A	c.(475-477)atT>atA	p.I159I	FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Silent_p.I195I|FCGR3B_ENST00000367964.2_Silent_p.I159I	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	159	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGCTTTTGGAATGTGGAAGT	0.438000													6	54					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16641730	16641730	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:16641730G>A	ENST00000375592.3	-	2	400	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	62	F-box.									autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TACGGTGAGAGAAAGGACAGG	0.463000													16	87					0	0	1	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75807384	75807384	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:75807384T>C	ENST00000550916.1	+	3	534	c.487T>C	c.(487-489)Tgg>Cgg	p.W163R	GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.W163R|GLIPR1L2_ENST00000547164.1_Intron|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.W56R|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.W98R|GLIPR1L2_ENST00000435775.1_Intron	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	163						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TTAGCTTGTTTGGGACCACTC	0.294000													10	203					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58846430	58846430	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:58846430A>T	ENST00000329665.4	+	2	409	c.262A>T	c.(262-264)Ata>Tta	p.I88L		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	88	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CAAGGAGCAGATACTGGAGCT	0.662000													5	61					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71802308	71802308	+	Silent	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chrX:71802308T>C	ENST00000373545.3	-	31	3750	c.3312A>G	c.(3310-3312)ggA>ggG	p.G1104G	PHKA1_ENST00000373539.3_Silent_p.G1163G|PHKA1_ENST00000541944.1_Silent_p.G1074G|PHKA1_ENST00000373542.4_Silent_p.G1146G|PHKA1_ENST00000339490.3_Silent_p.G1133G			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1146					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CAATGATGCTTCCGATGCTAT	0.433000													4	42					0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	21201467	21201467	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:21201467A>C	ENST00000274695.4	+	15	1677	c.1510A>C	c.(1510-1512)Aaa>Caa	p.K504Q	CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000378610.1_Missense_Mutation_p.K504Q|CDKAL1_ENST00000378624.4_Missense_Mutation_p.K413Q	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	504					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CTCCATCAGCAAACCGCTAGC	0.473000													4	135					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	34					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169159	32169159	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:32169159C>T	ENST00000375023.3	-	22	4012	c.3874G>A	c.(3874-3876)Gag>Aag	p.E1292K		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1292					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGCCCCCACTCTGGGTCCCCA	0.637000													4	34					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24494686	24494686	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:24494686C>T	ENST00000355123.4	-	19	2649	c.2206G>A	c.(2206-2208)Gag>Aag	p.E736K	ITSN2_ENST00000406921.3_Missense_Mutation_p.E736K|ITSN2_ENST00000361999.3_Missense_Mutation_p.E709K	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	736					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					tgtttctcctcagctttccgt	0.353000													9	112					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27892155	27892155	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:27892155G>A	ENST00000326019.6	+	5	1528	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	416						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					ACTGGTGGCTGAGGCCATTCA	0.438000													25	258					0	0	1	0	0
MRPL22	29093	broad.mit.edu	37	5	154346277	154346277	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:154346277G>A	ENST00000523037.1	+	7	482	c.441G>A	c.(439-441)ctG>ctA	p.L147L	MRPL22_ENST00000439747.3_Silent_p.L173L|MRPL22_ENST00000265229.8_Silent_p.L67L|MRPL22_ENST00000518364.1_3'UTR|MRPL22_ENST00000522038.1_Silent_p.L153L	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	147					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCAGTGCCTGAAACGCATCC	0.493000													6	101					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348136	10348136	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:10348136T>A	ENST00000255381.2	-	38	5657	c.5547A>T	c.(5545-5547)agA>agT	p.R1849S	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1849					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTTCACTCTTCTCTCATGTT	0.423000													8	108					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95571561	95571561	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr14:95571561G>C	ENST00000526495.1	-	22	3407	c.3116C>G	c.(3115-3117)gCt>gGt	p.A1039G	DICER1_ENST00000343455.3_Missense_Mutation_p.A1039G|DICER1_ENST00000527414.1_Missense_Mutation_p.A1039G|DICER1_ENST00000541352.1_Missense_Mutation_p.A1039G|DICER1_ENST00000393063.1_Missense_Mutation_p.A1039G|DICER1_ENST00000556045.1_5'UTR			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1039	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGGATGTATAGCACAGAGTTC	0.413000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				10	152					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13230890	13230890	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:13230890G>C	ENST00000378694.1	+	9	1300	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	MCM10_ENST00000484800.2_Missense_Mutation_p.E410Q|MCM10_ENST00000378714.3_Missense_Mutation_p.E409Q			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	410	Zinc finger-like.				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GCGTGACTGTGAGTACTGTCA	0.542000													15	303					0	0	1	0	0
ARL13B	200894	broad.mit.edu	37	3	93722607	93722607	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:93722607C>T	ENST00000394222.3	+	3	510	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.R79W|ARL13B_ENST00000535334.1_5'UTR|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000486562.1_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	79			R -> Q (in JBTS8; reduces binding to GTP).				GTP binding	p.R79R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AATAAGAATTCGGGGAATCTG	0.398000													19	105					0	0	1	0	0
MAPK8	5599	broad.mit.edu	37	10	49634093	49634093	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:49634093C>G	ENST00000374189.1	+	8	1032	c.851C>G	c.(850-852)tCa>tGa	p.S284*	MAPK8_ENST00000374182.3_Nonsense_Mutation_p.S284*|MAPK8_ENST00000360332.3_Nonsense_Mutation_p.S284*|MAPK8_ENST00000395611.3_Nonsense_Mutation_p.S208*			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	284	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CCAGCTGACTCAGAACACAAC	0.368000													7	132					0	0	1	0	0
IL33	90865	broad.mit.edu	37	9	6256016	6256016	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr9:6256016C>T	ENST00000381434.3	+	7	674	c.661C>T	c.(661-663)Cat>Tat	p.H221Y	IL33_ENST00000417746.2_Missense_Mutation_p.H95Y|IL33_ENST00000456383.2_Missense_Mutation_p.H179Y	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	221					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CTTTGTCCTTCATAATATGCA	0.408000													6	86					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110466036	110466036	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:110466036G>C	ENST00000329608.6	+	6	1184	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	CSF1_ENST00000369802.3_Missense_Mutation_p.E265Q|CSF1_ENST00000344188.5_Missense_Mutation_p.E265Q|CSF1_ENST00000369801.1_Missense_Mutation_p.E265Q|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	265					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGAGCCGCCAGAGACCCCAGT	0.637000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	78					0	0	1	0	0
PYGO1	26108	broad.mit.edu	37	15	55841140	55841140	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr15:55841140G>A	ENST00000302000.6	-	2	197	c.103C>T	c.(103-105)Cca>Tca	p.P35S	PYGO1_ENST00000563719.1_Missense_Mutation_p.P35S	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	35					Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TTCTTATCTGGGCTTCCTAGT	0.373000													5	75					0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146046248	146046248	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr4:146046248A>G	ENST00000296577.4	+	17	2262	c.1747A>G	c.(1747-1749)Att>Gtt	p.I583V	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	583					interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ACTTAATTCAATTAAGGTATG	0.328000													3	53					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12061880	12061880	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:12061880A>T	ENST00000235329.5	+	10	1347	c.1025A>T	c.(1024-1026)gAg>gTg	p.E342V	MFN2_ENST00000444836.1_Missense_Mutation_p.E342V	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	342					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGAATTTTGAGAGGAGATTT	0.507000											OREG0013107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	241					0	0	1	0	0
YIPF3	25844	broad.mit.edu	37	6	43480030	43480030	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:43480030G>A	ENST00000372422.2	-	9	1110	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	YIPF3_ENST00000506469.1_Missense_Mutation_p.P316S	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	310					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGGATGTTGGGGCCCTCCAGT	0.607000													5	101					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151884372	151884372	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:151884372G>A	ENST00000355193.2	-	33	5201	c.4983C>T	c.(4981-4983)ttC>ttT	p.F1661F	KMT2C_ENST00000262189.6_Silent_p.F1661F					lysine (K)-specific methyltransferase 2C																		TTAAGTTGGGGAAATTAATAT	0.393000													6	104					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12939549	12939549	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chrX:12939549G>C	ENST00000218032.6	+	2	2477	c.2390G>C	c.(2389-2391)aGa>aCa	p.R797T	TLR8_ENST00000311912.5_Missense_Mutation_p.R815T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	797	LRRCT.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAAATTCCCAGACTGGTAGAT	0.433000													4	89					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45221772	45221772	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:45221772G>A	ENST00000372217.1	+	9	1029	c.678G>A	c.(676-678)gtG>gtA	p.V226V	KIF2C_ENST00000372218.4_Silent_p.V239V|KIF2C_ENST00000372222.3_Silent_p.V167V|KIF2C_ENST00000372224.4_Silent_p.V280V|KIF2C_ENST00000493027.1_3'UTR			Q99661	KIF2C_HUMAN	kinesin family member 2C	280	Globular (Potential).|Negative regulator of microtubule-binding (By similarity).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					AAATTGATGTGATTTCCATTC	0.448000													6	135					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53776633	53776633	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:53776633C>G	ENST00000426431.2	+	3	941	c.881C>G	c.(880-882)tCa>tGa	p.S294*	SP1_ENST00000327443.4_Nonsense_Mutation_p.S301*	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	301	Ser/Thr-rich.|Transactivation domain B (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CCTGTCACCTCAGGGACTACC	0.537000													6	112					0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88144674	88144674	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:88144674A>G	ENST00000507897.1	+	11	1480	c.1397A>G	c.(1396-1398)tAt>tGt	p.Y466C	C6ORF165_ENST00000369562.4_Missense_Mutation_p.Y466C			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	466										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CCTGAACATTATATTGACATA	0.279000													8	105					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250647	140250647	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr5:140250647C>T	ENST00000398640.2	+	1	1959	c.1959C>T	c.(1957-1959)caC>caT	p.H653H	PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGGATCACGGTGAGCCGG	0.677000													6	100					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62062712	62062712	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr20:62062712G>C	ENST00000359689.1	-	9	1305	c.1129C>G	c.(1129-1131)Caa>Gaa	p.Q377E	KCNQ2_ENST00000370224.1_Intron|KCNQ2_ENST00000357249.2_Missense_Mutation_p.Q377E|KCNQ2_ENST00000360480.3_Intron|KCNQ2_ENST00000344462.4_Missense_Mutation_p.Q377E|KCNQ2_ENST00000354587.3_Intron|KCNQ2_ENST00000359125.2_Missense_Mutation_p.Q377E			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	377					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.Q377E(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCGTAGGTTTGAGTTTGCGAA	0.448000													6	102					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76781642	76781642	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:76781642G>A	ENST00000287239.4	+	16	3514	c.3025G>A	c.(3025-3027)Gag>Aag	p.E1009K	KAT6B_ENST00000372724.1_Missense_Mutation_p.E717K|KAT6B_ENST00000372725.1_Missense_Mutation_p.E717K|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372711.1_Missense_Mutation_p.E826K|KAT6B_ENST00000372714.1_Missense_Mutation_p.E717K|KAT6B_ENST00000490365.1_3'UTR	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1009					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CACTTAGGCTGAGCGGCTAAT	0.493000											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	33					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151403213	151403213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:151403213G>A	ENST00000271715.2	-	4	702	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	POGZ_ENST00000368863.2_Intron|POGZ_ENST00000392723.1_Nonsense_Mutation_p.Q77*|POGZ_ENST00000409503.1_Nonsense_Mutation_p.Q130*|POGZ_ENST00000361398.3_Nonsense_Mutation_p.Q77*|POGZ_ENST00000491586.1_Nonsense_Mutation_p.Q77*|POGZ_ENST00000540984.1_5'UTR|POGZ_ENST00000531094.1_Nonsense_Mutation_p.Q77*	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	130					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCATGACCTGAACAGGCCTC	0.507000													6	196					0	0	1	0	0
SPDYE1	285955	broad.mit.edu	37	7	44047099	44047099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:44047099C>T	ENST00000258704.3	+	5	1002	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	AC004951.6_ENST00000447643.1_lincRNA|POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	289	Arg-rich.									endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GAACCGCTCTCAGATAGTCCT	0.587000													22	191					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185731218	185731218	+	Silent	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:185731218A>T	ENST00000302277.6	+	2	828	c.234A>T	c.(232-234)tcA>tcT	p.S78S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	78						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACATTAATTCATATGACCATG	0.363000													3	61					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274891	29274891	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:29274891C>T	ENST00000377160.2	+	1	489	c.425C>T	c.(424-426)gCa>gTa	p.A142V		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TGTAGGCATGCAGTGATAGCT	0.493000													4	137					0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2285351	2285351	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr16:2285351C>T	ENST00000301727.4	+	14	2181	c.2133C>T	c.(2131-2133)atC>atT	p.I711I	E4F1_ENST00000564139.1_3'UTR|E4F1_ENST00000565090.1_Silent_p.I534I	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	711					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CCGACACCATCACCATCGCCA	0.687000													6	45					0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4634707	4634707	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:4634707T>A	ENST00000261250.3	-	5	636	c.549A>T	c.(547-549)aaA>aaT	p.K183N	C12orf4_ENST00000545746.1_Missense_Mutation_p.K183N	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	183										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CTGTCAGTGATTTTCCCAATT	0.353000													10	101					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10122810	10122810	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:10122810C>G	ENST00000287647.3	+	31	3096	c.3003C>G	c.(3001-3003)ttC>ttG	p.F1001L	FANCD2_ENST00000419585.1_Missense_Mutation_p.F1001L|FANCD2_ENST00000383807.1_Missense_Mutation_p.F1001L|FANCD2_ENST00000383806.1_Missense_Mutation_p.F1001L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1001					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATATTGGATTCTCACATCTCC	0.408000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	133					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49932628	49932628	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:49932628G>A	ENST00000296474.3	-	14	3270	c.3243C>T	c.(3241-3243)gtC>gtT	p.V1081V	MST1R_ENST00000344206.4_Silent_p.V1032V	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1081					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CACTGTGGGTGACCACCCGCT	0.607000													18	384					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129601240	129601240	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:129601240G>T	ENST00000421865.2	+	18	2534	c.2485G>T	c.(2485-2487)Gga>Tga	p.G829*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	829	Laminin EGF-like 7.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCGGAGTCTTGGATTGATCTG	0.453000													5	56					0.00116845	0.00120722	1	1	0
RBM17	84991	broad.mit.edu	37	10	6156039	6156039	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:6156039G>C	ENST00000446108.1	+	10	1602	c.958G>C	c.(958-960)Gaa>Caa	p.E320Q	RBM17_ENST00000379888.4_Missense_Mutation_p.E320Q|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	320	RRM.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AGAGGTGGATGAAGACTTGGA	0.323000													3	44					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225379487	225379487	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:225379487G>T	ENST00000264414.4	-	4	719	c.381C>A	c.(379-381)gaC>gaA	p.D127E	CUL3_ENST00000409777.1_Missense_Mutation_p.D103E|CUL3_ENST00000344951.4_Missense_Mutation_p.D61E|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409096.1_Missense_Mutation_p.D103E	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	127					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CATACACACGGTCCTACAGTT	0.313000													4	71					0.150653	0.150977	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2807793	2807793	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr8:2807793A>T	ENST00000520002.1	-	68	10832	c.10277T>A	c.(10276-10278)gTa>gAa	p.V3426E	CSMD1_ENST00000400186.3_Missense_Mutation_p.V3249E|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3425E|CSMD1_ENST00000602723.1_Missense_Mutation_p.V3249E|CSMD1_ENST00000542608.1_Missense_Mutation_p.V3248E|CSMD1_ENST00000602557.1_Missense_Mutation_p.V3426E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3426						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)		GAACTTGCTTACAAAAATATC	0.413000													7	137					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50006080	50006080	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:50006080G>C	ENST00000443081.1	+	3	1745	c.826G>C	c.(826-828)Gat>Cat	p.D276H	RBM6_ENST00000266022.4_Missense_Mutation_p.D408H|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron			P78332	RBM6_HUMAN	RNA binding motif protein 6	408					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GGAGTACCGTGATGTGGATCA	0.522000													8	59					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343481	130343481	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:130343481G>A	ENST00000299164.2	+	8	2618	c.2618G>A	c.(2617-2619)cGc>cAc	p.R873H		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	873	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCCGGGCAGCGCACGGTCCCT	0.746000													5	39					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956138	42956138	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:42956138C>G	ENST00000541208.1	+	5	942	c.573C>G	c.(571-573)ttC>ttG	p.F191L	ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.F217L|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.F191L			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		AGCAAATATTCTATATATGTG	0.363000													7	71					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55598902	55598902	+	Missense_Mutation	SNP	G	G	A	rs147330720		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:55598902G>A	ENST00000201647.6	+	20	2148	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	EPS8L1_ENST00000586329.1_Missense_Mutation_p.E523K|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E634K|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E571K|EPS8L1_ENST00000588359.1_Missense_Mutation_p.E384K	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	698						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCAGGACAAAGAGAAAGTGTC	0.597000													7	103					0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254056	30254056	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chrX:30254056G>A	ENST00000361644.2	+	5	752	c.15G>A	c.(13-15)caG>caA	p.Q5Q		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	5										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CTCGGGGTCAGAAGAGTACGC	0.552000													3	26					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21946028	21946028	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:21946028C>T	ENST00000406877.3	-	6	1079	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	CDCA7L_ENST00000373934.4_Missense_Mutation_p.R221Q|CDCA7L_ENST00000356195.5_Missense_Mutation_p.R233Q|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	267					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GTTCATACGCCGCGTGATCTG	0.532000													8	267					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166237240	166237240	+	Splice_Site	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:166237240A>T	ENST00000357398.3	+	24	4736		c.e24+1		SCN2A_ENST00000283256.6_Splice_Site|SCN2A_ENST00000375437.2_Splice_Site|SCN2A_ENST00000375427.2_Splice_Site			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit						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)	GAAAAAGAAGATAAGTATATT	0.274000													4	92					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56565497	56565497	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:56565497C>T	ENST00000323777.3	-	1	248	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	47						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCTCGGCCTCGAAGAGCGGC	0.726000													6	24					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113380	209113380	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr2:209113380C>G	ENST00000415913.1	-	4	508	c.127G>C	c.(127-129)Gat>Cat	p.D43H	IDH1_ENST00000446179.1_Missense_Mutation_p.D43H|IDH1_ENST00000345146.2_Missense_Mutation_p.D43H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	43					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATGCCTAAATCATAGCTTGAA	0.388000			Mis		gliobastoma								5	95					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286119	48286119	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:48286119C>T	ENST00000320048.1	+	1	707	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AAGGCCCTCTCCACCTGTGCC	0.522000													4	84					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457967	45457967	+	RNA	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr12:45457967T>A	ENST00000548424.1	+	0	448																											CAGCTTTTACTGTGCTGTCAC	0.438000													4	69					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11308601	11308601	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:11308601G>C	ENST00000379261.4	+	6	650	c.558G>C	c.(556-558)caG>caC	p.Q186H	CELF2_ENST00000354897.3_Missense_Mutation_p.Q162H|CELF2_ENST00000399850.3_Missense_Mutation_p.Q162H|CELF2_ENST00000417956.2_Missense_Mutation_p.Q162H|CELF2_ENST00000609692.1_Missense_Mutation_p.Q162H|CELF2_ENST00000416382.2_Missense_Mutation_p.Q186H|CELF2_ENST00000537122.1_Missense_Mutation_p.Q75H|CELF2_ENST00000542579.1_Missense_Mutation_p.Q193H|CELF2_ENST00000354440.2_Missense_Mutation_p.Q162H|CELF2_ENST00000427450.1_Missense_Mutation_p.Q162H|CELF2_ENST00000450189.1_Missense_Mutation_p.Q193H|CELF2_ENST00000315874.4_Missense_Mutation_p.Q162H|CELF2_ENST00000608830.1_Missense_Mutation_p.Q162H	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	186	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CAATGGCACAGAATGCAATCA	0.448000													4	64					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23731087	23731087	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr9:23731087T>C	ENST00000397312.2	-	3	540	c.266A>G	c.(265-267)gAc>gGc	p.D89G	ELAVL2_ENST00000380117.1_Missense_Mutation_p.D89G|ELAVL2_ENST00000380110.4_Missense_Mutation_p.D118G|ELAVL2_ENST00000544538.1_Missense_Mutation_p.D89G|ELAVL2_ENST00000223951.6_Missense_Mutation_p.D89G	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	89	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		ATCCTTGGGGTCAATGTAGTT	0.373000													4	61					0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15234050	15234050	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:15234050C>T	ENST00000263383.3	-	4	481	c.342G>A	c.(340-342)acG>acA	p.T114T	ILVBL_ENST00000534378.1_Silent_p.T7T|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	114						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CCACGCCCACCGTCCCTGGAA	0.597000													7	74					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968032	4968032	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chrY:4968032A>T	ENST00000333703.4	+	5	2893	c.2380A>T	c.(2380-2382)Aat>Tat	p.N794Y	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.N805Y|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.N805Y	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	805	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCTGTTCGTGAATGAGTCAGT	0.428000													11	67					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112723668	112723668	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:112723668A>G	ENST00000297146.3	-	3	1712	c.1109T>C	c.(1108-1110)aTa>aCa	p.I370T	GPR85_ENST00000424100.1_Missense_Mutation_p.I370T|GPR85_ENST00000449591.1_Missense_Mutation_p.I370T|GPR85_ENST00000501255.2_Missense_Mutation_p.I370T	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85							integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GCTCCCTCATATAACACAGTA	0.423000													10	139					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74631777	74631777	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr18:74631777C>T	ENST00000253159.8	+	20	3512	c.3314C>T	c.(3313-3315)tCa>tTa	p.S1105L	ZNF236_ENST00000320610.9_Missense_Mutation_p.S1107L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1105					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGAAATGCATCACGGAAGTCT	0.478000													7	158					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19556878	19556878	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:19556878G>A	ENST00000328405.2	+	14	2766	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	834						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTTTGGCTCTGAACGAATCAG	0.358000													13	39					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37866662	37866662	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr17:37866662G>T	ENST00000406381.2	+	9	1249	c.739G>T	c.(739-741)Gac>Tac	p.D247Y	ERBB2_ENST00000540042.1_Missense_Mutation_p.D247Y|ERBB2_ENST00000584450.1_Missense_Mutation_p.D277Y|ERBB2_ENST00000578199.1_Missense_Mutation_p.D247Y|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Missense_Mutation_p.D247Y|ERBB2_ENST00000540147.1_Missense_Mutation_p.D247Y|ERBB2_ENST00000269571.5_Missense_Mutation_p.D277Y|ERBB2_ENST00000541774.1_Missense_Mutation_p.D262Y	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	277					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CTACAACACAGACACGTTTGA	0.592000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			6	64					8.12818e-05	8.5109e-05	1	1	0
PALB2	79728	broad.mit.edu	37	16	23647423	23647423	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr16:23647423C>T	ENST00000261584.4	-	4	596	c.444G>A	c.(442-444)aaG>aaA	p.K148K		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	148	Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCTGCTGCTTCTTTCTTCTGC	0.443000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					4	86					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34068019	34068019	+	Silent	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:34068019G>A	ENST00000373381.4	-	43	6836	c.6660C>T	c.(6658-6660)ctC>ctT	p.L2220L	CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373377.1_Silent_p.L319L|CSMD2_ENST00000373388.2_Silent_p.L319L|CSMD2_ENST00000373380.1_Silent_p.L1093L	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2222	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCTGAGGTTGAGGCGGACGC	0.592000													5	68					0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130743646	130743646	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:130743646T>G	ENST00000264992.3	-	3	946	c.505A>C	c.(505-507)Aaa>Caa	p.K169Q	ASTE1_ENST00000514044.1_Missense_Mutation_p.K169Q	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	169					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						AACCCAGTTTTCAGGTCAAAA	0.408000													3	75					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456194	5456194	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:5456194C>T	ENST00000222033.4	+	1	769	c.692C>T	c.(691-693)tCg>tTg	p.S231L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	231						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TGCAACAAGTCGGCCCACGCG	0.687000													10	93					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201694	248201694	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:248201694T>A	ENST00000366479.2	+	1	221	c.125T>A	c.(124-126)cTa>cAa	p.L42Q	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTGGAAATCTATCCATGATT	0.393000													18	282					0	0	1	0	0
CALU	813	broad.mit.edu	37	7	128399894	128399894	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:128399894G>C	ENST00000542996.2	+	6	1598	c.655G>C	c.(655-657)Gaa>Caa	p.E219Q	CALU_ENST00000535011.2_Missense_Mutation_p.E211Q|CALU_ENST00000449187.2_Missense_Mutation_p.E211Q|CALU_ENST00000538546.1_Missense_Mutation_p.E60Q|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000249364.4_Missense_Mutation_p.E211Q|CALU_ENST00000479257.1_Missense_Mutation_p.E219Q	NM_001199672.1	NP_001186601.1	O43852	CALU_HUMAN	calumenin	211	EF-hand 4.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						CATTGATCTAGAAGAGTATAT	0.378000													5	163					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92797117	92797117	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr13:92797117G>T	ENST00000377067.3	+	7	1808	c.1436G>T	c.(1435-1437)tGg>tTg	p.W479L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	479						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CCTGACAAGTGGGAACTTCTT	0.433000													5	100					1.23904e-05	1.30912e-05	1	1	0
MYO3A	53904	broad.mit.edu	37	10	26463232	26463232	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:26463232G>C	ENST00000265944.5	+	30	4205	c.4039G>C	c.(4039-4041)Gat>Cat	p.D1347H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1347	IQ 3.		D -> H (in a renal clear cell carcinoma sample; somatic mutation).		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	p.D1347H(1)		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						GGAGGAAGAAGATAAAGCAGC	0.498000													7	70					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79294083	79294083	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr15:79294083C>G	ENST00000419573.3	-	17	2818	c.2544G>C	c.(2542-2544)caG>caC	p.Q848H	RASGRF1_ENST00000394745.3_Missense_Mutation_p.Q64H|RASGRF1_ENST00000558480.2_Missense_Mutation_p.Q832H|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	850					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CATCATCACTCTGGTTTTGAT	0.318000													5	144					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12384279	12384279	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr19:12384279T>C	ENST00000356109.5	-	5	1053	c.935A>G	c.(934-936)gAt>gGt	p.D312G	ZNF44_ENST00000355684.5_Missense_Mutation_p.D264G	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TGAACTGTAATCAGGGAAGGC	0.408000													8	237					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101378760	101378760	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:101378760G>A	ENST00000312938.4	-	6	2493	c.1913C>T	c.(1912-1914)tCg>tTg	p.S638L		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	638					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGATGTTCCCGATGCTTCATT	0.413000													13	114					0	0	1	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36248708	36248708	+	Silent	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr11:36248708C>T	ENST00000315571.5	+	5	549	c.528C>T	c.(526-528)atC>atT	p.I176I	LDLRAD3_ENST00000524419.1_Silent_p.I166I|LDLRAD3_ENST00000528989.1_Silent_p.I127I|LDLRAD3_ENST00000529759.1_3'UTR	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	176						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCTATGCCATCATCGGCAGCT	0.557000													6	143					0	0	1	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150569923	150569923	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr6:150569923G>C	ENST00000361131.4	+	4	582	c.465G>C	c.(463-465)agG>agC	p.R155S		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	155					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		GAGGCATGAGGAAACTGAGCC	0.403000													4	55					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123857286	123857286	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr4:123857286C>G	ENST00000274008.4	+	7	1378	c.1309C>G	c.(1309-1311)Cag>Gag	p.Q437E	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AAAGTTACGTCAGATATTTGC	0.303000													6	188					0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35871662	35871662	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr14:35871662C>T	ENST00000216797.5	-	5	945	c.844G>A	c.(844-846)Gag>Aag	p.E282K	NFKBIA_ENST00000557389.1_Missense_Mutation_p.E192K|NFKBIA_ENST00000557140.1_Missense_Mutation_p.E239K|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	282					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|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	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		TCCTCACTCTCTGGCAGCATC	0.562000													7	105					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380325	147380325	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:147380325G>C	ENST00000240986.4	+	2	296	c.243G>C	c.(241-243)caG>caC	p.Q81H	GJA8_ENST00000369235.1_Missense_Mutation_p.Q81H	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	81					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGTGCTGCAGATCATCTTCG	0.622000													10	113					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801586	67801586	+	Silent	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr13:67801586T>C	ENST00000544246.1	-	2	1678	c.987A>G	c.(985-987)acA>acG	p.T329T	PCDH9_ENST00000377861.3_Silent_p.T329T|PCDH9_ENST00000328454.5_Silent_p.T329T|PCDH9_ENST00000456367.1_Silent_p.T329T|PCDH9_ENST00000377865.2_Silent_p.T329T	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	329	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAGCCAGCACTGTCACTTTGT	0.463000													7	125					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552078	100552078	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr7:100552078T>C	ENST00000319509.7	+	1	829	c.829T>C	c.(829-831)Tcc>Ccc	p.S277P						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AAATGTGGGCTCCGCTTCTAT	0.473000													11	442					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12336509	12336509	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:12336509T>C	ENST00000358136.3	+	19	2994	c.2864T>C	c.(2863-2865)cTc>cCc	p.L955P	VPS13D_ENST00000356315.4_Missense_Mutation_p.L955P	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	955					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCGCAGCTCCTCCTGGCGGAA	0.502000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	76					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67340468	67340468	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:67340468C>G	ENST00000371026.3	-	5	851	c.796G>C	c.(796-798)Gta>Cta	p.V266L	WDR78_ENST00000431318.1_Missense_Mutation_p.V12L|WDR78_ENST00000371023.3_Missense_Mutation_p.V266L|WDR78_ENST00000371022.3_Missense_Mutation_p.V266L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	266										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACATACGTTACTTTCTCAGCT	0.403000													4	125					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053228	238053228	+	Silent	SNP	G	G	T			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:238053228G>T	ENST00000366570.4	-	3	497	c.339C>A	c.(337-339)ggC>ggA	p.G113G	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	113					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTTCAGCCGCGCCTGCTCCTT	0.562000													5	222					0.184627	0.184627	1	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576894	158576894	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr1:158576894delG	ENST00000361284.1	+	1	666	c.666delG	c.(664-666)ttgfs	p.L222fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	222					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)					CCTACATCTTGGCAGCAATAC	0.507													7	252	---	---	---	---					
NTNG2	84628	broad.mit.edu	37	9	135042359	135042359	+	Frame_Shift_Del	DEL	G	G	-	rs148374128		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr9:135042359delG	ENST00000393229.3	+	2	917	c.141delG	c.(139-141)aagfs	p.K47fs	NTNG2_ENST00000360670.3_Frame_Shift_Del_p.K47fs|NTNG2_ENST00000372179.3_Frame_Shift_Del_p.K47fs|NTNG2_ENST00000393228.4_Frame_Shift_Del_p.K47fs	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	47	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGCGCCTGAAGGACTACGTCA	0.567													16	92	---	---	---	---					
RP11-428C19.4	0	broad.mit.edu	37	11	19296063	19296063	+	RNA	DEL	A	A	-	rs111431546		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr11:19296063delA	ENST00000527978.1	+	0	339																											actctgtttcaaaaaaaaaaa	0.478													2	4	---	---	---	---					
LATS2	26524	broad.mit.edu	37	13	21562482	21562483	+	In_Frame_Ins	INS	-	-	GGGGCG	rs56252009		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr13:21562482_21562483insGGGGCG	ENST00000382592.4	-	4	1841_1842	c.1436_1437insCGCCCC	c.(1435-1437)ccg>ccCGCCCCg	p.479_479P>PAP	LATS2_ENST00000542899.1_In_Frame_Ins_p.479_479P>PAP	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	479					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P473_A480delPAPAPAPA(2)|p.P479_A480insGR(1)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCTCCGCAgccggggcgggggc	0.787													2	4	---	---	---	---					
KLF5	688	broad.mit.edu	37	13	73636172	73636173	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr13:73636172_73636173insCT	ENST00000377687.4	+	2	971_972	c.435_436insCT	c.(436-438)ctgfs	p.L146fs	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Frame_Shift_Ins_p.L55fs	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	146					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		ACATCACTCACCTGAGAACTGG	0.500													8	152	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69256451	69256452	+	Frame_Shift_Ins	INS	-	-	C			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr14:69256451_69256452insC	ENST00000439696.2	-	2	1116_1117	c.815_816insG	c.(814-816)ggcfs	p.G272fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.G272fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	272					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)		TGGTCGGGGAGCCACCCCCGGG	0.639											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	125	---	---	---	---					
VPS9D1	9605	broad.mit.edu	37	16	89785450	89785452	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr16:89785450_89785452delCTT	ENST00000389386.3	-	2	282_284	c.158_160delAAG	c.(157-162)gaagtg>gtg	p.E53del	VPS9D1_ENST00000561976.1_5'UTR	NM_004913.2	NP_004904.2			VPS9 domain containing 1																		GTGGTTTCCACTTCTTCTAGTAA	0.571													13	111	---	---	---	---					
PLTP	5360	broad.mit.edu	37	20	44533742	44533742	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chr20:44533742delG	ENST00000477313.1	-	8	1315	c.721delC	c.(721-723)ctgfs	p.L241fs	PLTP_ENST00000420868.2_Frame_Shift_Del_p.L146fs|PLTP_ENST00000372420.1_Frame_Shift_Del_p.L153fs|PLTP_ENST00000542937.1_Frame_Shift_Del_p.L261fs|PLTP_ENST00000372431.3_Frame_Shift_Del_p.L241fs|PLTP_ENST00000354050.4_Frame_Shift_Del_p.L189fs			P55058	PLTP_HUMAN	phospholipid transfer protein	241					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CTCTCAGTCAGGGGGAAGAAG	0.627													7	54	---	---	---	---					
EGFL6	25975	broad.mit.edu	37	X	13636158	13636160	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	8c896e3f-272c-4fc2-a849-a808ce632816	g.chrX:13636158_13636160delGAG	ENST00000361306.1	+	8	1345_1347	c.1088_1090delGAG	c.(1087-1092)cgagga>cga	p.G364del	EGFL6_ENST00000380602.3_In_Frame_Del_p.G364del	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	364					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CGAAGCCTGCGAGGAGATGTGTT	0.379													7	53	---	---	---	---					
LOC100288069	100288069	broad.mit.edu	37	1	700514	700514	+	RNA	DEL	A	A	-			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:700514delA	ENST00000428504.1	-	0	1039					NR_033908.1																						actccatctcaaaaaaaaaaa	0.453													3	6	---	---	---	---					
LOC100131564	100131564	broad.mit.edu	37	1	93744310	93744310	+	RNA	DEL	T	T	-			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:93744310delT	ENST00000451302.2	-	0	1008				RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000414430.1_RNA|RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000427669.1_RNA|RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000447577.1_RNA|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000442860.1_RNA|RP4-717I23.3_ENST00000457025.1_RNA|RP4-717I23.3_ENST00000424517.3_RNA																							GGAATGCaaattttttttttt	0.279													3	3	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158576894	158576894	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr1:158576894delG	ENST00000361284.1	+	1	666	c.666delG	c.(664-666)ttgfs	p.L222fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	222					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)					CCTACATCTTGGCAGCAATAC	0.507													7	252	---	---	---	---					
ZNF717	100131827	broad.mit.edu	37	3	75786761	75786761	+	Frame_Shift_Del	DEL	C	C	-	rs145576551		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr3:75786761delC	ENST00000478296.1	-	4	2139	c.1863delG	c.(1861-1863)gggfs	p.G621fs	ZNF717_ENST00000422325.1_Frame_Shift_Del_p.G671fs|ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000400845.3_Frame_Shift_Del_p.G664fs|ZNF717_ENST00000491507.1_Intron			C9JSV9	C9JSV9_HUMAN	zinc finger protein 717	671					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						TACGGTTTTTCCCCGTGTGAG	0.408													4	2	---	---	---	---					
NTNG2	84628	broad.mit.edu	37	9	135042359	135042359	+	Frame_Shift_Del	DEL	G	G	-	rs148374128		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr9:135042359delG	ENST00000393229.3	+	2	917	c.141delG	c.(139-141)aagfs	p.K47fs	NTNG2_ENST00000372179.3_Frame_Shift_Del_p.K47fs|NTNG2_ENST00000393228.4_Frame_Shift_Del_p.K47fs|NTNG2_ENST00000360670.3_Frame_Shift_Del_p.K47fs	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	47	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGCGCCTGAAGGACTACGTCA	0.567													16	92	---	---	---	---					
LINC00202-1	387644	broad.mit.edu	37	10	27223577	27223579	+	RNA	DEL	AAT	AAT	-	rs71673553		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:27223577_27223579delAAT	ENST00000431296.1	-	0	3159					NR_026795.1																						TCTTACaaaaaataaataaataa	0.305													2	4	---	---	---	---					
FAM21EP	100421577	broad.mit.edu	37	10	51826259	51826259	+	RNA	DEL	A	A	-			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr10:51826259delA	ENST00000456967.1	-	0	1278					NR_038275.1																						TAACAAAAGCAAAAAAAAAAA	0.333													2	4	---	---	---	---					
KLF5	688	broad.mit.edu	37	13	73636172	73636173	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr13:73636172_73636173insCT	ENST00000377687.4	+	2	971_972	c.435_436insCT	c.(436-438)ctgfs	p.L146fs	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Frame_Shift_Ins_p.L55fs	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	146					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		ACATCACTCACCTGAGAACTGG	0.500													8	152	---	---	---	---					
SPIRE2	84501	broad.mit.edu	37	16	89916880	89916882	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr16:89916880_89916882delGAG	ENST00000378247.3	+	3	500_502	c.457_459delGAG	c.(457-459)gagdel	p.E157del	SPIRE2_ENST00000393062.2_In_Frame_Del_p.E157del|SPIRE2_ENST00000564878.1_3'UTR	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	157	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CGGGGGTCCCGAGGAGGAGGAGG	0.729													3	6	---	---	---	---					
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs140689079		TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000406285.3_In_Frame_Del_p.D17del|POLI_ENST00000579434.1_5'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)					6	1	---	---	---	---					
PLTP	5360	broad.mit.edu	37	20	44533742	44533742	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chr20:44533742delG	ENST00000477313.1	-	8	1315	c.721delC	c.(721-723)ctgfs	p.L241fs	PLTP_ENST00000372431.3_Frame_Shift_Del_p.L241fs|PLTP_ENST00000354050.4_Frame_Shift_Del_p.L189fs|PLTP_ENST00000542937.1_Frame_Shift_Del_p.L261fs|PLTP_ENST00000420868.2_Frame_Shift_Del_p.L146fs|PLTP_ENST00000372420.1_Frame_Shift_Del_p.L153fs			P55058	PLTP_HUMAN	phospholipid transfer protein	241					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CTCTCAGTCAGGGGGAAGAAG	0.627													7	54	---	---	---	---					
EGFL6	25975	broad.mit.edu	37	X	13636158	13636160	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-K4-A83P-01A-11D-A34U-08	TCGA-K4-A83P-11A-21D-A34U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edc3d71-1ce5-4cde-a9f0-08f16518308b	f997634b-daa1-44c7-a9af-2b6897856b91	g.chrX:13636158_13636160delGAG	ENST00000361306.1	+	8	1345_1347	c.1088_1090delGAG	c.(1087-1092)cgagga>cga	p.G364del	EGFL6_ENST00000380602.3_In_Frame_Del_p.G364del	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	364					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CGAAGCCTGCGAGGAGATGTGTT	0.379													7	53	---	---	---	---					
