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
LAMC3	10319	broad.mit.edu	37	9	133942411	133942411	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr9:133942411C>A	ENST00000361069.4	+	14	2545	c.2412C>A	c.(2410-2412)ccC>ccA	p.P804P	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	804	Laminin EGF-like 7.				cell adhesion	basement membrane|membrane	structural molecule activity	p.P804P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTGGGCACCCCCAGCCCTGCC	0.642000													9	26					0.000274275	0.000313165	0.004482	1	0
SYNGR4	23546	broad.mit.edu	37	19	48876782	48876782	+	Silent	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:48876782C>T	ENST00000344846.2	+	3	352	c.102C>T	c.(100-102)tcC>tcT	p.S34S	SYNGR4_ENST00000601610.1_5'UTR|SYNGR4_ENST00000595322.1_5'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	34	MARVEL.					integral to membrane		p.S34S(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AGGTCTTCTCCCTGATCGTCT	0.577000													7	44					0	0	0.003080	0	0
E2F7	144455	broad.mit.edu	37	12	77419607	77419607	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr12:77419607C>A	ENST00000322886.7	-	12	2531	c.2296G>T	c.(2296-2298)Ggc>Tgc	p.G766C	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	766					cell cycle	transcription factor complex	DNA binding|identical protein binding	p.G766C(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GAAACCGGGCCCGGCATTGCA	0.562000													4	12					0.00909568	0.00973174	0.009096	1	0
DGKB	1607	broad.mit.edu	37	7	14217692	14217692	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:14217692C>A	ENST00000403951.2	-	24	2629	c.2210G>T	c.(2209-2211)gGc>gTc	p.G737V	DGKB_ENST00000406247.3_Missense_Mutation_p.G737V|DGKB_ENST00000407950.1_Missense_Mutation_p.G729V|DGKB_ENST00000402815.1_Missense_Mutation_p.G736V|DGKB_ENST00000258767.5_Missense_Mutation_p.G737V|DGKB_ENST00000444700.2_Missense_Mutation_p.G718V|DGKB_ENST00000399322.3_Missense_Mutation_p.G737V			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	737					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.G737V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CAGCCGCCGGCCAGCACTTTT	0.502000													14	53					6.31663e-08	8.44056e-08	0.003163	1	0
EIF3H	8667	broad.mit.edu	37	8	117671091	117671091	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr8:117671091A>T	ENST00000521861.1	-	3	441	c.418T>A	c.(418-420)Tac>Aac	p.Y140N	EIF3H_ENST00000276682.4_Missense_Mutation_p.Y154N	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	140	MPN.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.Y140N(1)		large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GCATGCTGGTAACTAAACTGA	0.398000													15	143					0	0	0.020292	0	0
ABCB1	5243	broad.mit.edu	37	7	87160611	87160611	+	Splice_Site	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:87160611T>A	ENST00000265724.3	-	22	3101	c.2685_splice	c.e22+1	p.K895_splice	ABCB1_ENST00000543898.1_Splice_Site_p.K831_splice|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	895	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.K895M(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTGACTCACCTTCCCAGAACC	0.338000													33	109					0	0	0.010818	0	0
IPO9	55705	broad.mit.edu	37	1	201839917	201839917	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:201839917G>A	ENST00000361565.4	+	18	2409	c.2340G>A	c.(2338-2340)gaG>gaA	p.E780E		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	780					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	p.E780E(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						AACTCGGGGAGAATCTAGACC	0.592000													25	43					0	0	0.021523	0	0
ITPKC	80271	broad.mit.edu	37	19	41231331	41231331	+	Silent	SNP	T	T	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:41231331T>G	ENST00000263370.2	+	2	1275	c.1242T>G	c.(1240-1242)ctT>ctG	p.L414L		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	414						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.L414L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGGTCCAGCTTTCTGGACATG	0.532000													11	125					0	0	0.016723	0	0
ZNF716	441234	broad.mit.edu	37	7	57529506	57529506	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:57529506T>C	ENST00000420713.1	+	4	1451	c.1339T>C	c.(1339-1341)Ttc>Ctc	p.F447L		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.F447L(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						AGCCTTTACCTTCTCCTCAAC	0.378000													3	6					0	0	0.004672	0	0
SPINK14	408187	broad.mit.edu	37	5	147549350	147549350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr5:147549350G>T	ENST00000356972.1	+	1	55	c.55G>T	c.(55-57)Gtg>Ttg	p.V19L	SPINK14_ENST00000562793.1_Missense_Mutation_p.V19L	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN	serine peptidase inhibitor, Kazal type 14 (putative)	19						extracellular region	serine-type endopeptidase inhibitor activity	p.V19L(1)		breast(1)|large_intestine(1)|lung(1)	3						GATACATTTGGTGTTATCTTC	0.378000													7	12					1.06961e-07	1.39872e-07	0.003080	1	0
ZNF773	374928	broad.mit.edu	37	19	58018366	58018366	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:58018366G>T	ENST00000282292.4	+	4	1043	c.903G>T	c.(901-903)agG>agT	p.R301S	ZNF773_ENST00000598770.1_Missense_Mutation_p.R300S|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R301I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		CTGGAGTAAGGCCTTATGAGT	0.418000													39	84					6.48837e-15	1.00784e-14	0.010771	1	0
IBTK	25998	broad.mit.edu	37	6	82950159	82950159	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:82950159C>A	ENST00000306270.7	-	2	594	c.45G>T	c.(43-45)ctG>ctT	p.L15L	IBTK_ENST00000510291.1_Silent_p.L15L|IBTK_ENST00000503631.1_Silent_p.L15L	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	15					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	p.L15L(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AAGCATGCTTCAGGGATCGAC	0.408000													30	90					4.40665e-25	7.28883e-25	0.009535	1	0
EPHA7	2045	broad.mit.edu	37	6	94066623	94066623	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:94066623C>G	ENST00000369303.4	-	5	1320	c.1136G>C	c.(1135-1137)tGt>tCt	p.C379S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	379	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.C379S(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACAGGGAACACATTCGCCCTG	0.483000													12	27					0	0	0.010729	0	0
ATAD2	29028	broad.mit.edu	37	8	124384054	124384054	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr8:124384054C>A	ENST00000287394.5	-	4	499	c.392G>T	c.(391-393)cGg>cTg	p.R131L	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.R131L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CCTCAATGACCGAGTAACTGG	0.308000													21	68					1.28384e-07	1.66464e-07	0.012319	1	0
CRISP1	167	broad.mit.edu	37	6	49806162	49806162	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:49806162C>T	ENST00000335847.4	-	7	711	c.610G>A	c.(610-612)Gac>Aac	p.D204N	CRISP1_ENST00000355791.2_Missense_Mutation_p.D204N|CRISP1_ENST00000507853.1_Intron|CRISP1_ENST00000505118.1_Missense_Mutation_p.D204N|CRISP1_ENST00000329411.5_Intron|CRISP1_ENST00000536021.1_Intron	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	204					fusion of sperm to egg plasma membrane	extracellular space		p.D204N(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CAAAGTTTGTCTTCACAGTTA	0.363000													32	115					0	0	0.017118	0	0
CSMD3	114788	broad.mit.edu	37	8	113599348	113599348	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr8:113599348C>A	ENST00000297405.5	-	23	4076	c.3832G>T	c.(3832-3834)Gga>Tga	p.G1278*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G1278*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G1238*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G1174*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1278	CUB 7.					integral to membrane|plasma membrane		p.G1238*(1)|p.G1278*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATTGATTCCCTTTCCTGCT	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	131					1.49906e-05	1.82029e-05	0.020292	1	0
FCRL4	83417	broad.mit.edu	37	1	157556159	157556159	+	Missense_Mutation	SNP	C	C	T	rs142198646		TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:157556159C>T	ENST00000271532.1	-	6	1069	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	312	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.V312M(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CCTTCAGCCACGGAGCAGACA	0.592000													9	72					0	0	0.006214	0	0
DENND1A	57706	broad.mit.edu	37	9	126143842	126143842	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr9:126143842G>T	ENST00000373624.2	-	22	3100	c.2899C>A	c.(2899-2901)Cct>Act	p.P967T	DENND1A_ENST00000542603.1_Missense_Mutation_p.P752T|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.P978T	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	967	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	p.P967T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GCCTGTTGAGGAGCAGAGGGC	0.652000													25	25					5.45024e-15	8.55268e-15	0.018920	1	0
LOC101927958	101927958	broad.mit.edu	37	2	239141692	239141692	+	RNA	SNP	T	T	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:239141692T>G	ENST00000456601.1	+	0	906																											AATACATATGTACTAAGAATT	0.313000													9	19					0	0	0.004482	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650756	232650756	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:232650756G>A	ENST00000366630.1	-	2	688	c.330C>T	c.(328-330)atC>atT	p.I110I	SIPA1L2_ENST00000262861.4_Silent_p.I110I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	110					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.I110I(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGACAGAAGTGATGCTTTCAT	0.512000													29	160					0	0	0.007291	0	0
SCN1A	6323	broad.mit.edu	37	2	166897828	166897828	+	Silent	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:166897828G>T	ENST00000423058.2	-	13	2345	c.2328C>A	c.(2326-2328)atC>atA	p.I776I	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Silent_p.I776I|SCN1A_ENST00000409050.1_Silent_p.I748I|SCN1A_ENST00000375405.3_Silent_p.I765I|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	776						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I765I(1)|p.I776I(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGACAATACAGATGGTGATGG	0.398000													22	87					1.55795e-14	2.40773e-14	0.012319	1	0
DDI1	414301	broad.mit.edu	37	11	103908544	103908544	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:103908544C>A	ENST00000302259.3	+	1	1237	c.994C>A	c.(994-996)Cta>Ata	p.L332I	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	332					proteolysis		aspartic-type endopeptidase activity	p.L332I(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCTTCTAGGCCTAGATATGCT	0.443000													27	56					1.17739e-12	1.77479e-12	0.005443	1	0
SEZ6L2	26470	broad.mit.edu	37	16	29906600	29906600	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr16:29906600C>T	ENST00000308713.5	-	5	1360	c.833G>A	c.(832-834)gGc>gAc	p.G278D	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G234D|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G208D|SEZ6L2_ENST00000346932.5_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	278	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.G278D(1)|p.G208D(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATCCTGAAGCCACCGCCCCT	0.532000													14	82					0	0	0.004990	0	0
CELSR1	9620	broad.mit.edu	37	22	46829346	46829346	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr22:46829346G>A	ENST00000262738.3	-	5	4554	c.4555C>T	c.(4555-4557)Ccc>Tcc	p.P1519S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1519	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	p.P1519S(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACACCACTGGGAACCTTCGGT	0.637000													3	7					0	0	0.004672	0	0
NOS1	4842	broad.mit.edu	37	12	117715775	117715775	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr12:117715775G>A	ENST00000317775.6	-	9	2338	c.1653C>T	c.(1651-1653)atC>atT	p.I551I	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.I551I	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	551					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.I551I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGGGGTGCCTGATGGGAACTT	0.607000													26	55					0	0	0.021523	0	0
SMG5	23381	broad.mit.edu	37	1	156237303	156237303	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:156237303C>G	ENST00000361813.5	-	10	1219	c.1075G>C	c.(1075-1077)Gtc>Ctc	p.V359L	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	359					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	p.V359L(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CAGATGATGACCATTTGAAAG	0.527000													8	66					0	0	0.004482	0	0
CLPTM1	1209	broad.mit.edu	37	19	45477703	45477703	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:45477703A>T	ENST00000541297.2	+	4	740	c.275A>T	c.(274-276)cAt>cTt	p.H92L	CLPTM1_ENST00000337392.5_Missense_Mutation_p.H106L|CLPTM1_ENST00000546079.1_Missense_Mutation_p.H4L			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	106					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		p.H106L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CAGAACCTGCATGTGTACATC	0.562000													7	35					0	0	0.003080	0	0
CUBN	8029	broad.mit.edu	37	10	16870805	16870805	+	Splice_Site	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr10:16870805C>G	ENST00000377833.4	-	66	10828	c.10764_splice	c.e66+1	p.G3588_splice		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3588	CUB 27.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G3588A(1)|p.G3588V(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTACTCACGCCTCCGCAGTA	0.408000											OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	38					0	0	0.014323	0	0
WDHD1	11169	broad.mit.edu	37	14	55455817	55455817	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr14:55455817C>A	ENST00000360586.3	-	13	1520	c.1455G>T	c.(1453-1455)ttG>ttT	p.L485F	WDHD1_ENST00000420358.2_Missense_Mutation_p.L362F|WDHD1_ENST00000421192.1_Missense_Mutation_p.L362F|WDHD1_ENST00000359167.4_Intron	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	485						cytoplasm|nucleoplasm	DNA binding	p.L485F(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TTGTATAATTCAAAGTGTTTG	0.373000													36	98					3.75037e-06	4.62748e-06	0.005524	1	0
DLG2	1740	broad.mit.edu	37	11	83183791	83183791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:83183791C>A	ENST00000398309.2	-	18	2478	c.2008G>T	c.(2008-2010)Gag>Tag	p.E670*	DLG2_ENST00000543673.1_Nonsense_Mutation_p.E775*|DLG2_ENST00000376106.3_Nonsense_Mutation_p.E134*|DLG2_ENST00000537455.1_Nonsense_Mutation_p.E420*|DLG2_ENST00000404783.3_Nonsense_Mutation_p.E148*|DLG2_ENST00000376104.2_Nonsense_Mutation_p.E775*|DLG2_ENST00000330014.6_Nonsense_Mutation_p.E591*|DLG2_ENST00000532653.1_Nonsense_Mutation_p.E652*|DLG2_ENST00000418306.2_Nonsense_Mutation_p.E549*|DLG2_ENST00000531015.1_Nonsense_Mutation_p.E637*|DLG2_ENST00000426717.2_Nonsense_Mutation_p.E134*|DLG2_ENST00000280241.8_Nonsense_Mutation_p.E709*|DLG2_ENST00000524982.1_Nonsense_Mutation_p.E666*	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	670						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.E549*(1)|p.E670*(1)|p.E709*(1)|p.E775*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTAACAGGCTCATAGGAAAGA	0.438000													10	60					3.86212e-05	4.56297e-05	0.008291	1	0
DLL1	28514	broad.mit.edu	37	6	170597852	170597852	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:170597852G>T	ENST00000366756.3	-	3	710	c.377C>A	c.(376-378)gCt>gAt	p.A126D		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	126					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	p.A126D(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGTGTGGAGAGCTTCAATAAT	0.468000													31	96					4.31634e-10	6.25971e-10	0.012213	1	0
PLXNB1	5364	broad.mit.edu	37	3	48462684	48462684	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr3:48462684C>G	ENST00000358536.4	-	8	2032	c.1763G>C	c.(1762-1764)tGc>tCc	p.C588S	PLXNB1_ENST00000456774.1_Missense_Mutation_p.C588S|PLXNB1_ENST00000358459.4_Missense_Mutation_p.C588S|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.C588S	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	588					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	p.C588S(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGGGAGGGGCACATCACACC	0.642000													18	42					0	0	0.010504	0	0
TYR	7299	broad.mit.edu	37	11	88911128	88911128	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:88911128C>A	ENST00000263321.5	+	1	509	c.7C>A	c.(7-9)Ctg>Atg	p.L3M	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	3					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.L3M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AAGAATGCTCCTGGCTGTTTT	0.488000													6	44					0.00198382	0.00219945	0.001984	1	0
IGHV1-46	28465	broad.mit.edu	37	14	106967542	106967542	+	RNA	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr14:106967542T>C	ENST00000390622.2	-	0	246																											TGTTGGATGATGCTTTCAGGG	0.458000													11	26					0	0	0.008291	0	0
PRKCB	5579	broad.mit.edu	37	16	24046816	24046816	+	Silent	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr16:24046816C>T	ENST00000303531.7	+	5	629	c.477C>T	c.(475-477)cgC>cgT	p.R159R	PRKCB_ENST00000321728.7_Silent_p.R159R	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	159					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.R159R(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CGGAGCGCCGCGGCCGCATCT	0.622000													13	26					0	0	0.020292	0	0
HOXA5	3202	broad.mit.edu	37	7	27182779	27182779	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:27182779C>T	ENST00000222726.3	-	1	508	c.448G>A	c.(448-450)Gag>Aag	p.E150K	HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	150					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E150K(1)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GCGTCCTCCTCGGCTCCGGAC	0.716000													36	43					0	0	0.019004	0	0
GMDS	2762	broad.mit.edu	37	6	1961104	1961104	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:1961104C>A	ENST00000380815.4	-	5	711	c.442G>T	c.(442-444)Gtg>Ttg	p.V148L	GMDS_ENST00000530927.1_Missense_Mutation_p.V118L	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	148					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	p.V148L(1)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TAGAACTTCACAGAGTTGATA	0.493000													21	68					4.96729e-08	6.69599e-08	0.008871	1	0
SLC12A1	6557	broad.mit.edu	37	15	48512830	48512830	+	Splice_Site	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr15:48512830G>C	ENST00000396577.3	+	3	635		c.e3-1		SLC12A1_ENST00000380993.3_Splice_Site|SLC12A1_ENST00000561031.1_Splice_Site|SLC12A1_ENST00000558405.1_Splice_Site|SLC12A1_ENST00000330289.6_Splice_Site	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1						potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.?(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATAAAATGCAGAATGTGGCAG	0.378000													5	21					0	0	0.014758	0	0
HK2	3099	broad.mit.edu	37	2	75099464	75099464	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:75099464T>C	ENST00000290573.2	+	4	1013	c.413T>C	c.(412-414)aTg>aCg	p.M138T	HK2_ENST00000409174.1_Missense_Mutation_p.M110T	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	138	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.M138T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GCTAACTTCATGGATAAGCTA	0.488000													19	63					0	0	0.012319	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75552466	75552466	+	Silent	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr10:75552466A>T	ENST00000604729.1	+	10	2466	c.2169A>T	c.(2167-2169)ggA>ggT	p.G723G	ZSWIM8_ENST00000604524.1_Silent_p.G723G|ZSWIM8_ENST00000398706.2_Silent_p.G723G|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000603114.1_Silent_p.G690G|ZSWIM8_ENST00000605216.1_Silent_p.G723G					zinc finger, SWIM-type containing 8									p.G723G(2)|p.G103G(1)									CTGCAGTTGGAGAGGAGGATG	0.612000													20	33					0	0	0.008871	0	0
VAV3	10451	broad.mit.edu	37	1	108185290	108185290	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:108185290C>A	ENST00000370056.4	-	20	2139	c.1865G>T	c.(1864-1866)gGg>gTg	p.G622V	VAV3_ENST00000544443.1_Missense_Mutation_p.G26V|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000415432.2_Missense_Mutation_p.G62V|VAV3_ENST00000527011.1_Missense_Mutation_p.G622V	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	622	SH3 1.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.G622V(1)|p.G62V(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AACGGTATCCCCGGCCTGGAG	0.512000													4	45					2.27111e-07	2.92e-07	0.013537	1	0
UBE3A	7337	broad.mit.edu	37	15	25615807	25615807	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr15:25615807G>A	ENST00000232165.3	-	6	2170	c.1514C>T	c.(1513-1515)aCt>aTt	p.T505I	UBE3A_ENST00000438097.1_Missense_Mutation_p.T485I|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.T485I|UBE3A_ENST00000397954.2_Missense_Mutation_p.T508I|UBE3A_ENST00000566215.1_Missense_Mutation_p.T485I	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	508	Interaction with HCV core protein.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.T508I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GTAGAGAACAGTGATTCTTCG	0.368000													17	97					0	0	0.004007	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149331	73149331	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr4:73149331C>A	ENST00000286657.4	-	22	3176	c.3140G>T	c.(3139-3141)tGt>tTt	p.C1047F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1047	PLAC.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.C1047F(1)		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)			GCAGGACTCACAACATAACTT	0.458000													27	63					6.32553e-13	9.58224e-13	0.004656	1	0
LAMB1	3912	broad.mit.edu	37	7	107615775	107615775	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:107615775G>C	ENST00000393561.1	-	9	1529	c.1345C>G	c.(1345-1347)Cag>Gag	p.Q449E	LAMB1_ENST00000393560.1_Missense_Mutation_p.Q425E|LAMB1_ENST00000222399.6_Missense_Mutation_p.Q425E			P07942	LAMB1_HUMAN	laminin, beta 1	425	Laminin EGF-like 3.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.Q425E(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCGACACTGGCCAGCAATG	0.408000													23	54					0	0	0.016522	0	0
CPS1	1373	broad.mit.edu	37	2	211507348	211507348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:211507348G>T	ENST00000233072.5	+	25	3296	c.3100G>T	c.(3100-3102)Gag>Tag	p.E1034*	CPS1_ENST00000430249.2_Nonsense_Mutation_p.E1040*|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Nonsense_Mutation_p.E583*	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1034					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.E1034*(1)|p.E1040*(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GTACTTTGAAGAGTTGTCCTT	0.408000													10	51					7.48243e-07	9.46125e-07	0.006214	1	0
PACSIN3	29763	broad.mit.edu	37	11	47204066	47204066	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:47204066G>A	ENST00000539589.1	-	4	441	c.99C>T	c.(97-99)caC>caT	p.H33H	PACSIN3_ENST00000298838.6_Silent_p.H33H	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	33	FCH.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	p.H33H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CGCACAGCCGGTGCCCGTCCT	0.652000													30	41					0	0	0.015359	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50662598	50662598	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr22:50662598G>T	ENST00000439308.2	-	13	2734	c.2242C>A	c.(2242-2244)Ctg>Atg	p.L748M	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.L748M	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	748					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	p.L748M(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCTCCTCCAGGGACTTCAGC	0.622000													3	28					0.004672	0.00506962	0.004672	1	0
TCEAL5	340543	broad.mit.edu	37	X	102529026	102529026	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chrX:102529026G>C	ENST00000372680.1	-	3	760	c.466C>G	c.(466-468)Cag>Gag	p.Q156E		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.Q156E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AGCTCCTCCTGAGCCCTTGAC	0.522000													59	33					0	0	0.014410	0	0
ZP4	57829	broad.mit.edu	37	1	238053782	238053782	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:238053782G>T	ENST00000366570.4	-	1	312	c.154C>A	c.(154-156)Cct>Act	p.P52T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	52					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	p.P52T(1)		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)			AGTACAGGAGGAGACGTTGCC	0.502000													8	36					2.17888e-05	2.58425e-05	0.006214	1	0
HS3ST4	9951	broad.mit.edu	37	16	26147509	26147509	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr16:26147509G>T	ENST00000331351.5	+	2	1703	c.1311G>T	c.(1309-1311)ttG>ttT	p.L437F	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	437					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.L437F(2)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCTTCAACTTGATGTTTTACC	0.473000													6	13					0.00307968	0.0034021	0.003080	1	0
ATP12A	479	broad.mit.edu	37	13	25264846	25264846	+	Silent	SNP	A	A	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr13:25264846A>C	ENST00000218548.6	+	7	1119	c.786A>C	c.(784-786)acA>acC	p.T262T	ATP12A_ENST00000381946.3_Silent_p.T262T	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	262					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.T262T(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCTATTCCACAACGTGTCTGG	0.552000													31	166					0	0	0.015359	0	0
GRM6	2916	broad.mit.edu	37	5	178413537	178413537	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr5:178413537G>T	ENST00000231188.5	-	8	1896	c.1718C>A	c.(1717-1719)cCc>cAc	p.P573H	GRM6_ENST00000517717.1_Missense_Mutation_p.P573H|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	573					detection of visible light|visual perception	integral to plasma membrane		p.P573H(2)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CACAGGTGTGGGGCGGCAGCC	0.706000													8	14					1.06961e-07	1.39872e-07	0.003080	1	0
GPR161	23432	broad.mit.edu	37	1	168055036	168055036	+	Splice_Site	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:168055036T>C	ENST00000367838.1	-	8	1638		c.e8-2		GPR161_ENST00000367835.1_Splice_Site|GPR161_ENST00000539777.1_Splice_Site|GPR161_ENST00000271357.5_Splice_Site|GPR161_ENST00000361697.2_Splice_Site|GPR161_ENST00000367836.1_Splice_Site|GPR161_ENST00000537209.1_Splice_Site|GPR161_ENST00000546300.1_Splice_Site	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161						multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.?(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TGGCAGCTTCTGAGGGAGAAG	0.552000													11	10					0	0	0.016723	0	0
SETBP1	26040	broad.mit.edu	37	18	42531409	42531409	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr18:42531409G>T	ENST00000282030.5	+	4	2400	c.2104G>T	c.(2104-2106)Gca>Tca	p.A702S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	702						nucleus	DNA binding	p.A702S(1)|p.A648S(1)		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)		CAGCCCTGGGGCAGCAGCCAT	0.517000									Schinzel-Giedion syndrome				11	42					0.000673444	0.000757625	0.008291	1	0
ALG13	79868	broad.mit.edu	37	X	110980041	110980041	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chrX:110980041A>G	ENST00000394780.3	+	23	2641	c.2629A>G	c.(2629-2631)Act>Gct	p.T877A	ALG13_ENST00000251943.4_Missense_Mutation_p.T773A|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	877					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	p.T278A(1)|p.T877A(1)|p.T773A(1)		endometrium(2)|lung(10)|skin(1)	13						TATTAGTACCACTTCAGTTTC	0.463000													70	63					0	0	0.014410	0	0
KDM3B	51780	broad.mit.edu	37	5	137759901	137759901	+	Silent	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr5:137759901G>T	ENST00000314358.5	+	16	4310	c.4110G>T	c.(4108-4110)gtG>gtT	p.V1370V	KDM3B_ENST00000542866.1_Silent_p.V402V|KDM3B_ENST00000394866.1_Silent_p.V1026V	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1370					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.V1370V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGGAGATGGTGATGGGGTTAA	0.468000													31	52					1.36615e-20	2.22362e-20	0.013726	1	0
LTBP2	4053	broad.mit.edu	37	14	74976011	74976011	+	Silent	SNP	C	C	A	rs61729544	byFrequency	TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr14:74976011C>A	ENST00000261978.4	-	22	3719	c.3333G>T	c.(3331-3333)acG>acT	p.T1111T	LTBP2_ENST00000556690.1_Silent_p.T1111T	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1111	Cys-rich.|EGF-like 10; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.T1111T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGAGCCAGCCGTGTTGGTGC	0.642000													14	66					3.27435e-08	4.473e-08	0.020292	1	0
STK11	6794	broad.mit.edu	37	19	1218447	1218447	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:1218447A>T	ENST00000326873.7	+	2	1495	c.322A>T	c.(322-324)Aaa>Taa	p.K108*	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	108	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.K108*(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTACGGCACAAAAATGTCAT	0.547000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			50	64					0	0	0.014410	0	0
HK3	3101	broad.mit.edu	37	5	176314670	176314670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr5:176314670C>A	ENST00000292432.5	-	11	1473	c.1382G>T	c.(1381-1383)gGt>gTt	p.G461V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	461	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.G461V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGGCCACCACCATCCACAGA	0.637000													12	15					2.27111e-07	2.92e-07	0.013537	1	0
MAP2	4133	broad.mit.edu	37	2	210518007	210518007	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:210518007G>T	ENST00000360351.4	+	4	619	c.113G>T	c.(112-114)gGg>gTg	p.G38V	MAP2_ENST00000199940.6_Missense_Mutation_p.G38V|MAP2_ENST00000447185.1_Missense_Mutation_p.G38V|MAP2_ENST00000361559.4_Missense_Mutation_p.G38V|MAP2_ENST00000392194.1_Missense_Mutation_p.G38V	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	38					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	p.G38V(3)|p.G38E(1)		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)	GGCGGAGCAGGGGAAGGACTT	0.532000													12	25					0.00010058	0.000115705	0.013537	1	0
UBR2	23304	broad.mit.edu	37	6	42612262	42612262	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:42612262A>G	ENST00000372899.1	+	20	2530	c.2272A>G	c.(2272-2274)Ata>Gta	p.I758V	UBR2_ENST00000372883.3_Missense_Mutation_p.I262V|UBR2_ENST00000372901.1_Missense_Mutation_p.I758V	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	758					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.I758V(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATACCTCATTATAATGCTTGT	0.313000													19	48					0	0	0.008871	0	0
OR1A2	26189	broad.mit.edu	37	17	3101509	3101509	+	Silent	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr17:3101509C>T	ENST00000381951.1	+	1	697	c.697C>T	c.(697-699)Cta>Tta	p.L233L		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L233L(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TACCAAGAGTCTATTCAAAGC	0.453000													52	82					0	0	0.014410	0	0
DEFA4	1669	broad.mit.edu	37	8	6793627	6793627	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr8:6793627A>T	ENST00000297435.2	-	3	333	c.209T>A	c.(208-210)gTa>gAa	p.V70E		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	70					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.V70E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CCGGCAGAATACTAATCTGCA	0.507000													16	34					0	0	0.004990	0	0
XIRP1	165904	broad.mit.edu	37	3	39229101	39229101	+	Silent	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr3:39229101T>A	ENST00000340369.3	-	2	2064	c.1836A>T	c.(1834-1836)tcA>tcT	p.S612S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.S612S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	612	Interaction with CTNNB1 (By similarity).						actin binding	p.S612S(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGTGACCTCTGACCCCTGCT	0.617000													17	29					0	0	0.006122	0	0
MYO1G	64005	broad.mit.edu	37	7	45011773	45011773	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:45011773T>G	ENST00000258787.7	-	6	806	c.670A>C	c.(670-672)Aac>Cac	p.N224H		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	224	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.N224H(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						ACAGCAGGGTTTCTCTCCAAG	0.527000													31	91					0	0	0.017118	0	0
CLEC2D	29121	broad.mit.edu	37	12	9840645	9840645	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr12:9840645A>G	ENST00000261340.7	+	3	342	c.320A>G	c.(319-321)gAt>gGt	p.D107G	CLEC2D_ENST00000545918.1_Missense_Mutation_p.D70G|CLEC2D_ENST00000290855.6_Missense_Mutation_p.D107G|CLEC2D_ENST00000543300.1_Missense_Mutation_p.D107G|CLEC2D_ENST00000261339.6_Missense_Mutation_p.D70G	NM_001004419.4	NP_001004419.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	107	C-type lectin.				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity	p.D107G(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						GACTCACAAGATGCTGATCTT	0.413000													22	49					0	0	0.010504	0	0
PDE1C	5137	broad.mit.edu	37	7	31890287	31890287	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:31890287G>A	ENST00000396184.3	-	9	1023	c.819C>T	c.(817-819)acC>acT	p.T273T	PDE1C_ENST00000396182.2_Silent_p.T273T|PDE1C_ENST00000321453.7_Silent_p.T273T|PDE1C_ENST00000396191.1_Silent_p.T273T|PDE1C_ENST00000396193.1_Silent_p.T333T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	273	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.T273T(2)|p.T333T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGGTGGTTCCGGTATGCTCGT	0.448000													19	66					0	0	0.014323	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039105	242039105	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:242039105A>C	ENST00000391980.2	-	2	284	c.226T>G	c.(226-228)Tgc>Ggc	p.C76G	MTERFD2_ENST00000407095.3_Missense_Mutation_p.C76G|MTERFD2_ENST00000495694.1_Missense_Mutation_p.C76G|MTERFD2_ENST00000406593.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	76								p.C76G(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TCAAGGAGGCACTGAACAAGA	0.502000													12	64					0	0	0.010729	0	0
BACH2	60468	broad.mit.edu	37	6	90642501	90642501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:90642501G>A	ENST00000257749.4	-	9	2859	c.2152C>T	c.(2152-2154)Cag>Tag	p.Q718*	BACH2_ENST00000537989.1_Nonsense_Mutation_p.Q718*|BACH2_ENST00000343122.3_Nonsense_Mutation_p.Q718*	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	718						nucleus	protein dimerization activity|sequence-specific DNA binding	p.Q718*(2)		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)		TCGGGGCTCTGGATGTCTCGG	0.557000													5	25					0	0	0.001168	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743035	26743035	+	Missense_Mutation	SNP	C	C	A	rs142065702		TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:26743035C>A	ENST00000396005.3	-	1	536	c.227G>T	c.(226-228)cGc>cTc	p.R76L	SLC5A12_ENST00000280467.6_Missense_Mutation_p.R76L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	76					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.R76L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGCCCCAAAGCGGTAGACTTC	0.512000													10	50					0.000442599	0.000501613	0.006214	1	0
OR10G8	219869	broad.mit.edu	37	11	123900870	123900870	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:123900870C>T	ENST00000431524.1	+	1	574	c.541C>T	c.(541-543)Ccg>Tcg	p.P181S		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181S(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTGTGATGCACCGCCCATCCT	0.517000													25	103					0	0	0.018920	0	0
EPS15L1	58513	broad.mit.edu	37	19	16513280	16513280	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:16513280G>A	ENST00000602009.1	-	10	2076	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F	EPS15L1_ENST00000535753.2_Missense_Mutation_p.S548F|EPS15L1_ENST00000597937.1_Missense_Mutation_p.S548F|EPS15L1_ENST00000248070.6_Missense_Mutation_p.S548F|EPS15L1_ENST00000455140.2_Missense_Mutation_p.S548F|EPS15L1_ENST00000594975.1_Missense_Mutation_p.S548F			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	548					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	p.S548F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ATGCAGCTGGGAAAGTTTGCT	0.522000													7	45					0	0	0.003080	0	0
CHD7	55636	broad.mit.edu	37	8	61735118	61735118	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr8:61735118C>G	ENST00000423902.2	+	12	3493	c.3014C>G	c.(3013-3015)aCa>aGa	p.T1005R	CHD7_ENST00000525508.1_Missense_Mutation_p.T1005R|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1005	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.T1005R(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGTCCATTACATTTCTCTAT	0.388000													49	101					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25312955	25312955	+	RNA	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr15:25312955A>T	ENST00000549804.2	+	0	538				SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA																							TGAGTCCCCCATAAAAACATT	0.493000													37	72					0	0	0.006230	0	0
FAM71B	153745	broad.mit.edu	37	5	156590418	156590418	+	Silent	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr5:156590418C>T	ENST00000302938.4	-	2	953	c.858G>A	c.(856-858)ggG>ggA	p.G286G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	286	Ala-rich.					nucleus		p.G286G(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCATTGCTGCCCCTGCTATTG	0.567000													39	47					0	0	0.007835	0	0
SIL1	64374	broad.mit.edu	37	5	138463544	138463544	+	Splice_Site	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr5:138463544T>A	ENST00000394817.2	-	2	130		c.e2-2		SIL1_ENST00000265195.5_Splice_Site|SIL1_ENST00000509534.1_Splice_Site	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor						intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTCAGGGACCTGCAGGTGCAA	0.547000									Marinesco-Sjgren syndrome				4	6					0	0	0.014758	0	0
REPIN1	29803	broad.mit.edu	37	7	150069234	150069234	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:150069234C>T	ENST00000397281.2	+	4	1393	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.R302W|REPIN1_ENST00000540729.1_Missense_Mutation_p.R302W|REPIN1_ENST00000489432.2_Missense_Mutation_p.R359W|REPIN1_ENST00000425389.2_Missense_Mutation_p.R302W	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	302					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	p.R302W(1)|p.R359W(1)		cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCGCCGCTTCCGGCACAAACC	0.672000													3	5					0	0	0.004672	0	0
OR1S2	219958	broad.mit.edu	37	11	57971562	57971562	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:57971562G>T	ENST00000302592.6	-	1	91	c.92C>A	c.(91-93)tCc>tAc	p.S31Y		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S31Y(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGCCTGGTTGGAGAGTCCCAG	0.443000													39	68					1.47244e-24	2.42241e-24	0.006230	1	0
NEK3	4752	broad.mit.edu	37	13	52728041	52728041	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr13:52728041G>T	ENST00000452082.2	-	3	1591	c.361C>A	c.(361-363)Cct>Act	p.P121T	NEK3_ENST00000339406.3_Missense_Mutation_p.P100T|NEK3_ENST00000378101.2_Missense_Mutation_p.P100T|NEK3_ENST00000400357.2_Missense_Mutation_p.P100T			P51956	NEK3_HUMAN	NIMA-related kinase 3	100	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P100T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		ATGTCTTCAGGAAATAACTTT	0.318000													28	74					5.61819e-17	8.95399e-17	0.005443	1	0
CWH43	80157	broad.mit.edu	37	4	49030646	49030646	+	Splice_Site	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr4:49030646G>T	ENST00000226432.4	+	10	1450	c.1266_splice	c.e10-1	p.A423_splice	CWH43_ENST00000513409.1_Splice_Site_p.A396_splice	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	423					GPI anchor biosynthetic process	integral to membrane		p.A423S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AATTCCTCAGGCACCAACCAA	0.438000													10	20					4.36969e-10	6.30719e-10	0.016723	1	0
SYNE1	23345	broad.mit.edu	37	6	152792795	152792795	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:152792795C>A	ENST00000367255.5	-	16	2170	c.1569G>T	c.(1567-1569)ctG>ctT	p.L523L	SYNE1_ENST00000413186.2_Silent_p.L523L|SYNE1_ENST00000341594.5_Silent_p.L530L|SYNE1_ENST00000367253.4_Silent_p.L523L|SYNE1_ENST00000265368.4_Silent_p.L523L|SYNE1_ENST00000495090.2_Silent_p.L90L|SYNE1_ENST00000466159.2_Silent_p.L523L|SYNE1_ENST00000367248.3_Silent_p.L513L|SYNE1_ENST00000423061.1_Silent_p.L530L|SYNE1_ENST00000448038.1_Silent_p.L530L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	523					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	p.L523L(2)|p.L530L(1)		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)		TCCAAGACTTCAGCTTTGACT	0.438000										HNSCC(10;0.0054)			33	102					1.22384e-17	1.9607e-17	0.013726	1	0
PVRL4	81607	broad.mit.edu	37	1	161043035	161043035	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:161043035T>A	ENST00000368012.3	-	8	1590	c.1288A>T	c.(1288-1290)Aac>Tac	p.N430Y	PVRL4_ENST00000486694.1_Intron|PVRL4_ENST00000453926.2_Intron	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	430					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		p.N430Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CAGCTACTGTTGTCCTTGAGA	0.652000													8	49					0	0	0.006214	0	0
TH	7054	broad.mit.edu	37	11	2185528	2185528	+	Missense_Mutation	SNP	G	G	T	rs78779683	by1000genomes	TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:2185528G>T	ENST00000381178.1	-	14	1540	c.1522C>A	c.(1522-1524)Cgc>Agc	p.R508S	TH_ENST00000381175.1_Missense_Mutation_p.R504S|TH_ENST00000333684.5_Missense_Mutation_p.R387S|TH_ENST00000352909.3_Missense_Mutation_p.R477S	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	508					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	p.R508S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TCCAGGGAGCGCCGCACGGCC	0.672000													7	24					8.12818e-05	9.4213e-05	0.001984	1	0
KIAA1407	57577	broad.mit.edu	37	3	113761558	113761558	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr3:113761558T>C	ENST00000295878.3	-	4	553	c.407A>G	c.(406-408)aAg>aGg	p.K136R	KIAA1407_ENST00000545063.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	136								p.K136R(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ACCATCAAACTTGTCATATTT	0.328000													31	35					0	0	0.012213	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43628678	43628678	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr9:43628678C>A	ENST00000332857.6	-	3	292	c.264G>T	c.(262-264)ccG>ccT	p.P88P	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.P88P(1)									CCAGGCCTCTCGGGCACTCTC	0.587000													16	45					2.35188e-11	3.49357e-11	0.006122	1	0
POLR1D	51082	broad.mit.edu	37	13	28239978	28239978	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr13:28239978A>T	ENST00000399697.3	+	3	375	c.257A>T	c.(256-258)cAc>cTc	p.H86L	POLR1D_ENST00000465887.1_3'UTR	NM_001206559.1|NM_152705.2	NP_001193488.1|NP_689918.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa	0					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	p.H86L(1)		endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		CCGAAGAAACACAGAAGCCAT	0.532000													13	32					0	0	0.013537	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	81					0	0	0.009096	0	0
COL14A1	7373	broad.mit.edu	37	8	121215955	121215955	+	Silent	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr8:121215955A>G	ENST00000297848.3	+	9	1155	c.885A>G	c.(883-885)aaA>aaG	p.K295K	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.K295K|COL14A1_ENST00000247781.3_Silent_p.K200K|COL14A1_ENST00000537875.1_Silent_p.K295K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	295	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.K295K(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGGGGTGAAAAACGCGGATG	0.493000													3	40					0	0	0.004672	0	0
RNF17	56163	broad.mit.edu	37	13	25353824	25353824	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr13:25353824A>G	ENST00000255324.5	+	5	501	c.449A>G	c.(448-450)gAa>gGa	p.E150G	RNF17_ENST00000381921.1_Missense_Mutation_p.E150G|RNF17_ENST00000255325.5_Missense_Mutation_p.E150G|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	150					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.E150G(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTGCAGAAGAAATTGATGAA	0.323000													24	53					0	0	0.021523	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188691	70188691	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:70188691C>A	ENST00000320256.4	-	1	706	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	44					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	p.G44W(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						ATGACTTGCCCGGCCTTGGGC	0.627000													19	28					1.00905e-13	1.54384e-13	0.008871	1	0
OR5L2	26338	broad.mit.edu	37	11	55595317	55595317	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:55595317G>A	ENST00000378397.1	+	1	623	c.623G>A	c.(622-624)aGt>aAt	p.S208N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S208N(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTGAATGAGAGTGTTACCATC	0.478000										HNSCC(27;0.073)			29	124					0	0	0.005443	0	0
FAM135B	51059	broad.mit.edu	37	8	139189617	139189617	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr8:139189617A>G	ENST00000395297.1	-	11	1246	c.1076T>C	c.(1075-1077)cTt>cCt	p.L359P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	359								p.L359P(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGACTGCAAGTTTTTGGTG	0.418000										HNSCC(54;0.14)			9	37					0	0	0.010729	0	0
SAMD10	140700	broad.mit.edu	37	20	62607069	62607069	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr20:62607069G>A	ENST00000369886.3	-	4	736	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	188								p.R188W(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGCAGGCTCCGCCCCTCCTCA	0.672000													22	61					0	0	0.021523	0	0
GTSE1	51512	broad.mit.edu	37	22	46712201	46712201	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr22:46712201C>G	ENST00000454366.1	+	7	1536	c.1324C>G	c.(1324-1326)Caa>Gaa	p.Q442E		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	423					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.Q442E(1)|p.Q423E(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGAATCTTCTCAATTGAATAA	0.493000													30	102					0	0	0.008361	0	0
TTC24	164118	broad.mit.edu	37	1	156555750	156555750	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:156555750C>T	ENST00000368236.3	+	10	1616	c.1580C>T	c.(1579-1581)cCc>cTc	p.P527L	TTC24_ENST00000368237.3_Missense_Mutation_p.P527L|TTC24_ENST00000495690.1_3'UTR	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	527							binding	p.P527L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTCCAGGACCCAGGGCCCAT	0.542000													6	7					0	0	0.001168	0	0
SCN3A	6328	broad.mit.edu	37	2	165953852	165953852	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:165953852G>C	ENST00000360093.3	-	23	4640	c.4149C>G	c.(4147-4149)gaC>gaG	p.D1383E	SCN3A_ENST00000409101.3_Missense_Mutation_p.D1334E|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1383E	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1383						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D1334E(1)|p.D1383E(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GAGCCTGACAGTCACTCAAAT	0.433000													18	55					0	0	0.007413	0	0
HECTD1	25831	broad.mit.edu	37	14	31637595	31637595	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr14:31637595T>C	ENST00000399332.1	-	10	2019	c.1531A>G	c.(1531-1533)Aaa>Gaa	p.K511E	HECTD1_ENST00000553700.1_Missense_Mutation_p.K511E	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	511					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	p.K511E(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GGATCTCCTTTGGGCTCATTA	0.353000													71	192					0	0	0.014410	0	0
DCAF13	25879	broad.mit.edu	37	8	104433228	104433228	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr8:104433228G>T	ENST00000297579.5	+	3	1029	c.752G>T	c.(751-753)cGg>cTg	p.R251L	DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000521971.1_Intron|DCAF13_ENST00000519682.1_Missense_Mutation_p.R95L	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	99					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		p.R251L(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTAACTCAGCGGAATTGTATC	0.348000													16	140					2.4624e-09	3.48839e-09	0.008871	1	0
FOXP2	93986	broad.mit.edu	37	7	114329913	114329913	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:114329913A>T	ENST00000408937.3	+	18	2529	c.2155A>T	c.(2155-2157)Aat>Tat	p.N719Y	FOXP2_ENST00000393489.3_Missense_Mutation_p.N602Y|FOXP2_ENST00000403559.4_Missense_Mutation_p.N711Y|FOXP2_ENST00000393491.3_Missense_Mutation_p.N509Y|FOXP2_ENST00000393498.2_Missense_Mutation_p.N673Y|FOXP2_ENST00000350908.4_Missense_Mutation_p.N694Y|FOXP2_ENST00000393494.2_Missense_Mutation_p.N694Y	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	694					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.N719Y(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GACAACAGCTAATCACAGTCC	0.433000													33	80					0	0	0.021022	0	0
MERTK	10461	broad.mit.edu	37	2	112786012	112786012	+	Silent	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:112786012C>G	ENST00000295408.4	+	19	2828	c.2571C>G	c.(2569-2571)ctC>ctG	p.L857L	MERTK_ENST00000421804.2_Silent_p.L857L|MERTK_ENST00000409780.1_Silent_p.L681L			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	857	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L857L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TAGAAAAACTCTTAGAAAGTT	0.478000													27	48					0	0	0.021523	0	0
NTN1	9423	broad.mit.edu	37	17	9086271	9086271	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr17:9086271G>T	ENST00000173229.2	+	5	1503	c.1396G>T	c.(1396-1398)Gtg>Ttg	p.V466L	NTN1_ENST00000538852.1_Missense_Mutation_p.V466L|NTN1_ENST00000546090.1_Missense_Mutation_p.V466L	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	466					apoptosis|axon guidance		protein binding	p.V466L(1)	NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						AGCCAGCAGCGTGGAGGAGCC	0.582000													29	67					8.53417e-09	1.18703e-08	0.013726	1	0
NPAP1	23742	broad.mit.edu	37	15	24924390	24924390	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr15:24924390C>A	ENST00000329468.2	+	1	3850	c.3376C>A	c.(3376-3378)Cac>Aac	p.H1126N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.H1126N(1)									CATCCTGCAGCACACATGGAC	0.478000													33	88					4.11147e-13	6.25926e-13	0.017118	1	0
MEFV	4210	broad.mit.edu	37	16	3304362	3304362	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr16:3304362C>T	ENST00000219596.1	-	2	745	c.706G>A	c.(706-708)Gga>Aga	p.G236R	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	236					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.G236R(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CGCATCTTTCCCGAGGGCAGG	0.627000													27	67					0	0	0.004656	0	0
ZNF622	90441	broad.mit.edu	37	5	16451832	16451832	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr5:16451832C>A	ENST00000308683.2	-	6	1494	c.1368G>T	c.(1366-1368)atG>atT	p.M456I		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	456						cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.M456I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTGTCTTCAGCATCCATTTTG	0.463000													34	67					7.72975e-29	1.3068e-28	0.013726	1	0
CCDC85A	114800	broad.mit.edu	37	2	56611409	56611409	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:56611409G>T	ENST00000407595.2	+	6	2083	c.1581G>T	c.(1579-1581)tgG>tgT	p.W527C	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	527								p.W527C(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGTTGTGTGGAGGAAACTTG	0.398000													14	36					1.15088e-07	1.49859e-07	0.004007	1	0
ASPM	259266	broad.mit.edu	37	1	197071597	197071597	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:197071597T>G	ENST00000367409.4	-	18	7040	c.6784A>C	c.(6784-6786)Atg>Ctg	p.M2262L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2262	IQ 20.|IQ 21.				mitosis	cytoplasm|nucleus	calmodulin binding	p.M2262L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTATATGCATCATTTTTAAA	0.333000													13	187					0	0	0.013537	0	0
SLC13A1	6561	broad.mit.edu	37	7	122768927	122768927	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:122768927C>T	ENST00000194130.2	-	10	1144	c.1105G>A	c.(1105-1107)Gtt>Att	p.V369I	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	369						integral to membrane|plasma membrane	sodium:sulfate symporter activity	p.V369I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CAACCAGGAACAAATCCGGGG	0.433000													9	33					0	0	0.008291	0	0
GLG1	2734	broad.mit.edu	37	16	74525010	74525010	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr16:74525010C>A	ENST00000422840.2	-	8	1337	c.1338G>T	c.(1336-1338)ggG>ggT	p.G446G	GLG1_ENST00000447066.2_Silent_p.G435G|GLG1_ENST00000205061.5_Silent_p.G446G	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	446						Golgi membrane|integral to membrane	receptor binding	p.G446G(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTTCAATCTCCCCCCGACAGC	0.512000													10	74					2.17888e-05	2.58425e-05	0.006214	1	0
FAM184A	79632	broad.mit.edu	37	6	119301415	119301415	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:119301415G>A	ENST00000338891.7	-	10	2632	c.2189C>T	c.(2188-2190)aCg>aTg	p.T730M	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.T730M|FAM184A_ENST00000368475.4_Missense_Mutation_p.T610M|FAM184A_ENST00000352896.5_Missense_Mutation_p.T610M	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	730								p.T730M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AAGCTCTTGCGTAAGCCGCTG	0.423000													8	59					0	0	0.006214	0	0
SPATA8	145946	broad.mit.edu	37	15	97327389	97327389	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr15:97327389G>A	ENST00000328504.3	+	2	363	c.96G>A	c.(94-96)tcG>tcA	p.S32S	SPATA8_ENST00000558553.1_5'UTR	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	32								p.S32S(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GCAGAACCTCGTCGCGACATT	0.572000													7	46					0	0	0.001984	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485263	97485263	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr13:97485263G>T	ENST00000376705.2	+	2	1251	c.1227G>T	c.(1225-1227)gaG>gaT	p.E409D		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	409						integral to membrane	sulfotransferase activity	p.E409D(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGCTTTACGAGTATGCAAAAG	0.572000													10	35					4.68919e-08	6.3773e-08	0.008291	1	0
BMP4	652	broad.mit.edu	37	14	54416867	54416867	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr14:54416867T>A	ENST00000245451.4	-	4	1503	c.1110A>T	c.(1108-1110)aaA>aaT	p.K370N	BMP4_ENST00000417573.1_Missense_Mutation_p.K370N|BMP4_ENST00000559087.1_Missense_Mutation_p.K370N|BMP4_ENST00000558984.1_Missense_Mutation_p.K370N	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	370					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	p.K370N(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						CACAACAGGCTTTGGGGATAC	0.502000													19	87					0	0	0.010504	0	0
CPS1	1373	broad.mit.edu	37	2	211454912	211454912	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:211454912C>A	ENST00000233072.5	+	8	990	c.794C>A	c.(793-795)cCg>cAg	p.P265Q	CPS1_ENST00000430249.2_Missense_Mutation_p.P271Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	265	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.P271Q(1)|p.P265Q(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCGGGAGGACCGGGGAACCCA	0.498000													91	202					7.47877e-49	1.30029e-48	0.014410	1	0
MUC16	94025	broad.mit.edu	37	19	8993385	8993385	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:8993385G>A	ENST00000397910.4	-	66	41907	c.41704C>T	c.(41704-41706)Ctc>Ttc	p.L13902F	MUC16_ENST00000380951.5_Missense_Mutation_p.L543F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13905	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L13902F(1)		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						TTGACATAGAGACTGTCCCTG	0.562000													37	76					0	0	0.019004	0	0
CEP112	201134	broad.mit.edu	37	17	64092444	64092444	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr17:64092444C>A	ENST00000392769.2	-	8	911	c.693G>T	c.(691-693)atG>atT	p.M231I	CEP112_ENST00000537949.1_Intron|CEP112_ENST00000535342.2_Missense_Mutation_p.M231I	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	231						centrosome		p.M231I(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						ATTTCGGTGTCATCTGCTAAA	0.378000													25	77					2.79863e-10	4.07801e-10	0.004656	1	0
RFX1	5989	broad.mit.edu	37	19	14083892	14083892	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:14083892G>A	ENST00000254325.4	-	9	1211	c.977C>T	c.(976-978)aCg>aTg	p.T326M		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	326					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.T326M(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GGTGCTTGCCGTCTGCGTGTA	0.662000													7	8					0	0	0.004482	0	0
VSTM4	196740	broad.mit.edu	37	10	50285321	50285321	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr10:50285321G>C	ENST00000332853.3	-	4	600	c.577C>G	c.(577-579)Ctg>Gtg	p.L193V		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	193						integral to membrane|plasma membrane		p.L193V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						ATGAAGAGCAGAATGCTGAGG	0.532000													13	23					0	0	0.006122	0	0
TRPM8	79054	broad.mit.edu	37	2	234878403	234878403	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:234878403T>A	ENST00000324695.4	+	16	2130	c.2090T>A	c.(2089-2091)cTg>cAg	p.L697Q	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	697						integral to membrane		p.L697Q(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AAGATTATCCTGTGTCTGTTT	0.423000													49	119					0	0	0.014410	0	0
NGEF	25791	broad.mit.edu	37	2	233745922	233745922	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:233745922G>C	ENST00000264051.3	-	14	2154	c.1876C>G	c.(1876-1878)Cag>Gag	p.Q626E	NGEF_ENST00000539537.1_Missense_Mutation_p.Q349E|NGEF_ENST00000373552.4_Missense_Mutation_p.Q534E	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	626	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.Q626E(2)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TCTGGCTGCTGAGCCACGTAT	0.667000													20	40					0	0	0.008871	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672991	141672991	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:141672991G>T	ENST00000547270.1	-	1	582	c.499C>A	c.(499-501)Cac>Aac	p.H167N		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	167					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.H167N(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					ACTGTGAAGTGAGGTCTGCTA	0.418000													19	34					4.35082e-09	6.10711e-09	0.010504	1	0
OR8I2	120586	broad.mit.edu	37	11	55860877	55860877	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:55860877C>A	ENST00000302124.2	+	1	125	c.94C>A	c.(94-96)Ctc>Atc	p.L32I	OR8I2_ENST00000560768.1_Missense_Mutation_p.L32I			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L32I(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTTGATGTTTCTCTTCATTTA	0.403000													41	174					1.30091e-30	2.21155e-30	0.006999	1	0
TP53	7157	broad.mit.edu	37	17	7574017	7574017	+	Missense_Mutation	SNP	C	C	A	rs121912664		TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr17:7574017C>A	ENST00000269305.4	-	10	1199	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	TP53_ENST00000445888.2_Missense_Mutation_p.R337L|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATCTCGAAGCGCTCACGCCC	0.527000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	11					2.17888e-05	2.58425e-05	0.006214	1	0
NFIA	4774	broad.mit.edu	37	1	61554015	61554015	+	Silent	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:61554015A>T	ENST00000403491.3	+	2	706	c.222A>T	c.(220-222)cgA>cgT	p.R74R	NFIA_ENST00000371185.2_Silent_p.R74R|NFIA_ENST00000371187.3_Silent_p.R74R|NFIA_ENST00000371189.4_Silent_p.R119R|NFIA_ENST00000371191.1_Silent_p.R97R|NFIA_ENST00000407417.3_Silent_p.R66R|NFIA_ENST00000485903.2_Silent_p.R74R|NFIA_ENST00000371184.2_Silent_p.R74R|NFIA_ENST00000479364.1_Intron	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	74					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R119R(1)|p.R74R(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GGGCATCTCGACTTCTGGCAA	0.423000													16	63					0	0	0.004007	0	0
MUC3A	4584	broad.mit.edu	37	7	100549819	100549819	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:100549819T>A	ENST00000379458.4	+	2	400	c.400T>A	c.(400-402)Ttt>Att	p.134_134insI	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated									p.F134I(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCCAACGAGCTTTATAATCAC	0.552000													13	78					0	0	0.020292	0	0
WSCD2	9671	broad.mit.edu	37	12	108603977	108603977	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr12:108603977G>C	ENST00000332082.4	+	5	1395	c.577G>C	c.(577-579)Gca>Cca	p.A193P	WSCD2_ENST00000547525.1_Missense_Mutation_p.A193P|WSCD2_ENST00000261400.3_Missense_Mutation_p.A193P|WSCD2_ENST00000549903.1_Missense_Mutation_p.A193P			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	193	WSC 1.					integral to membrane		p.A193P(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CGTGAGCGAGGCAGAGTGCGA	0.682000													3	37					0	0	0.004672	0	0
RYR2	6262	broad.mit.edu	37	1	237777895	237777895	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:237777895A>T	ENST00000366574.2	+	37	5784	c.5467A>T	c.(5467-5469)Aag>Tag	p.K1823*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.K1821*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.K1807*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1823	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	p.K1821*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTCTCATCAAGCTTTTCTA	0.473000													33	193					0	0	0.013726	0	0
RPTN	126638	broad.mit.edu	37	1	152128887	152128887	+	Silent	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:152128887G>T	ENST00000316073.3	-	3	752	c.688C>A	c.(688-690)Cgg>Agg	p.R230R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	230	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.R230R(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTTTCACACCGATTTAAGGCA	0.418000													41	182					2.54651e-27	4.28149e-27	0.006999	1	0
OR5L1	219437	broad.mit.edu	37	11	55579752	55579752	+	Silent	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:55579752T>A	ENST00000333973.2	+	1	899	c.810T>A	c.(808-810)gcT>gcA	p.A270A		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A270A(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GTGGAGATGCTGACAAAGTGG	0.473000													6	39					0	0	0.001168	0	0
VCAM1	7412	broad.mit.edu	37	1	101196759	101196759	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:101196759C>A	ENST00000294728.2	+	6	1311	c.1210C>A	c.(1210-1212)Cct>Act	p.P404T	VCAM1_ENST00000347652.2_Missense_Mutation_p.P312T|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.P342T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	404					heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.P404T(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TGCAGCATTCCCTAGAGATCC	0.433000													4	31					0.00909568	0.00973174	0.009096	1	0
S1PR3	1903	broad.mit.edu	37	9	91616648	91616648	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr9:91616648G>A	ENST00000375846.3	+	1	5228	c.533G>A	c.(532-534)tGc>tAc	p.C178Y	S1PR3_ENST00000358157.2_Missense_Mutation_p.C178Y			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	178					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.C178Y(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						GGCTGGAACTGCCTGCACAAT	0.582000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	30					0	0	0.004007	0	0
COL12A1	1303	broad.mit.edu	37	6	75812360	75812360	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:75812360G>T	ENST00000322507.8	-	56	8677	c.8368C>A	c.(8368-8370)Cct>Act	p.P2790T	COL12A1_ENST00000416123.2_Missense_Mutation_p.P2714T|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1626T|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2790T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2790	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.P2790T(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGCCTGGAGGACCCTGGGGG	0.488000													19	38					5.03518e-11	7.44331e-11	0.007413	1	0
SYNE1	23345	broad.mit.edu	37	6	152730841	152730841	+	Missense_Mutation	SNP	C	C	G	rs140418114		TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:152730841C>G	ENST00000367255.5	-	43	6835	c.6234G>C	c.(6232-6234)caG>caC	p.Q2078H	SYNE1_ENST00000341594.5_Missense_Mutation_p.Q2115H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q2078H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q2085H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q2085H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2078					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	p.Q2078H(2)|p.Q2085H(1)		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)		AGCACTGACCCTGACTGTAAT	0.368000										HNSCC(10;0.0054)			13	75					0	0	0.020292	0	0
OBSCN	84033	broad.mit.edu	37	1	228433270	228433270	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:228433270G>C	ENST00000570156.2	+	13	3988	c.3914G>C	c.(3913-3915)cGc>cCc	p.R1305P	OBSCN_ENST00000284548.11_Missense_Mutation_p.R1213P|OBSCN_ENST00000422127.1_Missense_Mutation_p.R1213P|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	284	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R1213P(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCAAAAGTACGCATGGAGGTC	0.622000													9	72					0	0	0.006214	0	0
UBXN11	91544	broad.mit.edu	37	1	26628188	26628188	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:26628188C>T	ENST00000314675.7	-	3	176	c.97G>A	c.(97-99)Gat>Aat	p.D33N	UBXN11_ENST00000357089.4_Missense_Mutation_p.D33N|UBXN11_ENST00000374217.2_Missense_Mutation_p.D33N|UBXN11_ENST00000374221.3_Missense_Mutation_p.D33N|UBXN11_ENST00000436301.2_5'UTR|UBXN11_ENST00000374222.1_Missense_Mutation_p.D33N|UBXN11_ENST00000374223.1_5'UTR|UBXN11_ENST00000535108.1_Intron	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	33						cytoplasm|cytoskeleton		p.D33N(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CACTTACCATCTCCATAGATG	0.552000													3	17					0	0	0.009096	0	0
FAT4	79633	broad.mit.edu	37	4	126372825	126372825	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr4:126372825G>T	ENST00000394329.3	+	9	10667	c.10654G>T	c.(10654-10656)Ggt>Tgt	p.G3552C	FAT4_ENST00000335110.5_Missense_Mutation_p.G1850C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3552	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G3552C(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTGAGCACAGGTCCTGCCAC	0.493000													36	92					3.76114e-14	5.78346e-14	0.019004	1	0
HCRTR2	3062	broad.mit.edu	37	6	55142300	55142300	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:55142300G>C	ENST00000370862.3	+	5	1221	c.885G>C	c.(883-885)caG>caC	p.Q295H		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	295					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.Q295H(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAATAAAGCAGATCCGAGCCA	0.498000													8	33					0	0	0.003080	0	0
CFI	3426	broad.mit.edu	37	4	110673626	110673626	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr4:110673626G>A	ENST00000394634.2	-	8	1145	c.938C>T	c.(937-939)gCa>gTa	p.A313V	CFI_ENST00000394635.3_Missense_Mutation_p.A321V|CFI_ENST00000512148.1_Missense_Mutation_p.A306V	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	313					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	p.A313V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TAGCTTACCTGCATCCATGTC	0.294000													4	36					0	0	0.009096	0	0
DENND5A	23258	broad.mit.edu	37	11	9228271	9228271	+	Silent	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:9228271T>A	ENST00000328194.3	-	3	560	c.240A>T	c.(238-240)cgA>cgT	p.R80R	DENND5A_ENST00000530044.1_Silent_p.R80R	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	80	UDENN.							p.R80R(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTCAGGATATCGTGCAAGGA	0.353000													38	133					0	0	0.010771	0	0
TRPC4	7223	broad.mit.edu	37	13	38266263	38266263	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr13:38266263G>C	ENST00000379705.3	-	4	1964	c.1107C>G	c.(1105-1107)caC>caG	p.H369Q	TRPC4_ENST00000338947.5_Missense_Mutation_p.H196Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.H369Q|TRPC4_ENST00000426868.2_Missense_Mutation_p.H369Q|TRPC4_ENST00000447043.1_Missense_Mutation_p.H369Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.H369Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.H369Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.H196Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.H369Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	369					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.H369Q(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGGAGGCTGTGTGGCAGATAA	0.483000													6	46					0	0	0.003080	0	0
TRRAP	8295	broad.mit.edu	37	7	98574614	98574614	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:98574614T>C	ENST00000359863.4	+	55	8488	c.8279T>C	c.(8278-8280)aTg>aCg	p.M2760T	TRRAP_ENST00000446306.3_Missense_Mutation_p.M2742T|TRRAP_ENST00000355540.3_Missense_Mutation_p.M2742T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2760	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.M2742T(1)|p.M2760T(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGAAGATATGTGGGCTGGT	0.498000													28	70					0	0	0.006320	0	0
TCF21	6943	broad.mit.edu	37	6	134210599	134210599	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:134210599G>A	ENST00000367882.4	+	1	324	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.G22R	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	22					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.G22R(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GGAATGTGACGGGTTGAAAAT	0.567000													21	69					0	0	0.008871	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27835625	27835625	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr12:27835625T>G	ENST00000318304.8	+	23	2537	c.2254T>G	c.(2254-2256)Tac>Gac	p.Y752D	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.Y721D|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.Y746D|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.Y599D	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	752	SAM 2.				cell adhesion	plasma membrane	protein binding	p.Y752D(1)|p.Y746D(1)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AATGCTACATTACATGACTGT	0.438000													20	79					0	0	0.012319	0	0
ZNF773	374928	broad.mit.edu	37	19	58018365	58018365	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:58018365G>T	ENST00000282292.4	+	4	1042	c.902G>T	c.(901-903)aGg>aTg	p.R301M	ZNF773_ENST00000598770.1_Missense_Mutation_p.R300M|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R301I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		ACTGGAGTAAGGCCTTATGAG	0.418000													39	81					6.48837e-15	1.00784e-14	0.010771	1	0
HECTD1	25831	broad.mit.edu	37	14	31637636	31637636	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr14:31637636T>C	ENST00000399332.1	-	10	1978	c.1490A>G	c.(1489-1491)aAg>aGg	p.K497R	HECTD1_ENST00000553700.1_Missense_Mutation_p.K497R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	497					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	p.K497R(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGTATCTTTCTTTTTCTTATC	0.333000													59	188					0	0	0.014410	0	0
NCOR2	9612	broad.mit.edu	37	12	124812058	124812058	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr12:124812058G>A	ENST00000356219.3	-	46	7256	c.7101C>T	c.(7099-7101)ctC>ctT	p.L2367L	NCOR2_ENST00000404121.2_Silent_p.L1921L|NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000429285.2_Silent_p.L2350L|NCOR2_ENST00000405201.1_Silent_p.L2360L|NCOR2_ENST00000404621.1_Intron	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2371					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.L2360P(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CATTGGCGCTGAGCGGCGGGG	0.582000													13	25					0	0	0.013537	0	0
MARK4	57787	broad.mit.edu	37	19	45769531	45769531	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:45769531G>A	ENST00000300843.4	+	7	838	c.541G>A	c.(541-543)Gac>Aac	p.D181N	MARK4_ENST00000262891.4_Missense_Mutation_p.D181N	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	181	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	p.D181N(2)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTACACAGGGACCTGAAGGT	0.567000													8	79					0	0	0.003080	0	0
PHF21B	112885	broad.mit.edu	37	22	45278997	45278997	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr22:45278997G>C	ENST00000313237.5	-	13	1715	c.1565C>G	c.(1564-1566)cCc>cGc	p.P522R	PHF21B_ENST00000404079.2_Missense_Mutation_p.P468R|PHF21B_ENST00000396103.3_Missense_Mutation_p.P480R|PHF21B_ENST00000403565.1_Missense_Mutation_p.P318R	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	522							zinc ion binding	p.P522R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTGGACGGTGGGGTGTGTGGC	0.642000													17	110					0	0	0.008871	0	0
BIRC6	57448	broad.mit.edu	37	2	32772983	32772983	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:32772983A>C	ENST00000421745.2	+	64	13011	c.12877A>C	c.(12877-12879)Act>Cct	p.T4293P		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4293					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.T4293P(1)|p.T4265P(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGCCAAAGGGACTGGCTTTGG	0.433000													16	25					0	0	0.004990	0	0
ZNF681	148213	broad.mit.edu	37	19	23927132	23927132	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:23927132G>A	ENST00000402377.3	-	4	1361	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	ZNF681_ENST00000395385.3_Missense_Mutation_p.S338L	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S338L(1)|p.S407L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTAAGGTGTGAGGACTTGTT	0.398000													7	29					0	0	0.001984	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171820	68171820	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr17:68171820G>T	ENST00000243457.3	+	2	1023	c.640G>T	c.(640-642)Gtg>Ttg	p.V214L	KCNJ2_ENST00000535240.1_Missense_Mutation_p.V214L	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	214					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.V214L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GATGTGGCGAGTGGGCAATCT	0.493000													20	48					2.4624e-09	3.48839e-09	0.008871	1	0
OR5I1	10798	broad.mit.edu	37	11	55703175	55703175	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:55703175A>T	ENST00000301532.3	-	1	701	c.702T>A	c.(700-702)agT>agA	p.S234R		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S234R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCTTCCTCCCACTGAAAGAGC	0.448000													3	25					0	0	0.004672	0	0
BDKRB1	623	broad.mit.edu	37	14	96730467	96730467	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr14:96730467C>A	ENST00000216629.6	+	3	1054	c.448C>A	c.(448-450)Cgg>Agg	p.R150R	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Silent_p.R150R	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	150					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	p.R150R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		GAGGCAGCAGCGGCGGAGGCA	0.637000													12	40					0.000151284	0.000173382	0.016723	1	0
FPR2	2358	broad.mit.edu	37	19	52272883	52272883	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:52272883C>A	ENST00000598776.1	+	2	1744	c.972C>A	c.(970-972)gcC>gcA	p.A324A	FPR2_ENST00000340023.6_Silent_p.A324A|FPR2_ENST00000598953.1_Silent_p.A324A	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	324					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.A324A(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGGAGAGGGCCCTGTCTGAGG	0.557000													6	40					0.00116845	0.00130491	0.001168	1	0
WDR90	197335	broad.mit.edu	37	16	700343	700343	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr16:700343G>T	ENST00000549091.1	+	4	461	c.369G>T	c.(367-369)gaG>gaT	p.E123D	WDR90_ENST00000293879.4_Missense_Mutation_p.E123D	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	123								p.E123D(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGGTCCTGGAGGCCAGGACAC	0.587000													75	134					3.82405e-32	6.5372e-32	0.014410	1	0
CD19	930	broad.mit.edu	37	16	28943816	28943816	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr16:28943816A>T	ENST00000538922.1	+	2	300	c.238A>T	c.(238-240)Atc>Ttc	p.I80F	CD19_ENST00000567541.1_Missense_Mutation_p.I80F|CD19_ENST00000324662.3_Missense_Mutation_p.I80F	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	80	Ig-like C2-type 1.			I -> S (in Ref. 2; AAA68490, 3; AAA69966, 4; AAB60697 and 5; BAB60954).	cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	p.I80F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GCCCCTGGCCATCTGGCTTTT	0.612000													18	39					0	0	0.010504	0	0
OR8I2	120586	broad.mit.edu	37	11	55861049	55861049	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:55861049G>T	ENST00000302124.2	+	1	297	c.266G>T	c.(265-267)cGg>cTg	p.R89L	OR8I2_ENST00000560768.1_Missense_Mutation_p.R89L			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89L(2)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CAATCCAATCGGAGATCCATC	0.403000													29	179					5.45727e-16	8.60786e-16	0.008361	1	0
PRG4	10216	broad.mit.edu	37	1	186276415	186276415	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:186276415C>A	ENST00000445192.2	+	7	1609	c.1564C>A	c.(1564-1566)Cct>Act	p.P522T	PRG4_ENST00000367486.3_Missense_Mutation_p.P479T|PRG4_ENST00000367485.4_Missense_Mutation_p.P429T|PRG4_ENST00000367483.4_Missense_Mutation_p.P481T|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	522	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.P522T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TCCCAAGGAGCCTGCACCCAC	0.637000													9	57					2.17888e-05	2.58425e-05	0.006214	1	0
PPIP5K2	23262	broad.mit.edu	37	5	102494993	102494993	+	Silent	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr5:102494993T>A	ENST00000321521.9	+	17	2454	c.1881T>A	c.(1879-1881)ctT>ctA	p.L627L	PPIP5K2_ENST00000414217.1_Silent_p.L627L|PPIP5K2_ENST00000358359.3_Silent_p.L627L|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	627					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.L627L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATGAAATACTTCAGAAAGACA	0.373000													35	59					0	0	0.021022	0	0
FBN1	2200	broad.mit.edu	37	15	48800778	48800778	+	Splice_Site	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr15:48800778C>A	ENST00000316623.5	-	15	2293		c.e15+1			NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1						heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.?(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATAGCACGAACCTTTGCAATA	0.393000													9	47					0.00621372	0.00671872	0.006214	1	0
TRIM26	7726	broad.mit.edu	37	6	30153924	30153924	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:30153924C>G	ENST00000454678.2	-	10	1785	c.1349G>C	c.(1348-1350)gGa>gCa	p.G450A	TRIM26_ENST00000437089.1_Missense_Mutation_p.G450A|TRIM26_ENST00000453195.1_Missense_Mutation_p.G450A	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	450	B30.2/SPRY.						DNA binding|zinc ion binding	p.G450A(1)		lung(1)|ovary(2)	3						GGAGAGGTCTCCCTTCCTCTT	0.612000													6	8					0	0	0.001168	0	0
CEL	1056	broad.mit.edu	37	9	135947049	135947049	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr9:135947049C>A	ENST00000372080.4	+	11	2185	c.2169C>A	c.(2167-2169)tcC>tcA	p.S723S	CEL_ENST00000351304.7_Silent_p.S654S	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	720	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	p.S723S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGGGTGACTCCGGGGCCCCCC	0.731000													8	18					0.00448238	0.00493384	0.004482	1	0
ANKRD23	200539	broad.mit.edu	37	2	97506536	97506536	+	Silent	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:97506536A>G	ENST00000318357.4	-	4	455	c.414T>C	c.(412-414)aaT>aaC	p.N138N	ANKRD23_ENST00000476975.1_Intron|ANKRD23_ENST00000418232.1_Silent_p.N138N|ANKRD23_ENST00000331001.2_Intron	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	138						nucleus		p.N138N(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TGTCATGGGCATTGGGGTCCC	0.597000													23	74					0	0	0.018920	0	0
ZNF468	90333	broad.mit.edu	37	19	53352410	53352410	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:53352410G>C	ENST00000595646.1	-	3	192	c.72C>G	c.(70-72)tgC>tgG	p.C24W	ZNF468_ENST00000243639.4_Missense_Mutation_p.C24W|ZNF468_ENST00000396409.4_5'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_5'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C24W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CAGGGTCCAGGCATTTCCACT	0.483000													47	124					0	0	0.014410	0	0
STAT1	6772	broad.mit.edu	37	2	191865802	191865802	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:191865802T>A	ENST00000361099.3	-	6	847	c.460A>T	c.(460-462)Atg>Ttg	p.M154L	STAT1_ENST00000540176.1_Missense_Mutation_p.M154L|STAT1_ENST00000409465.1_Missense_Mutation_p.M154L|STAT1_ENST00000392322.3_Missense_Mutation_p.M154L|STAT1_ENST00000392323.2_Missense_Mutation_p.M156L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	154					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.M154L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ATACTCACCATAACCTTGTCC	0.403000													22	67					0	0	0.012319	0	0
CCDC88A	55704	broad.mit.edu	37	2	55536362	55536362	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:55536362T>C	ENST00000436346.1	-	24	4949	c.4108A>G	c.(4108-4110)Aag>Gag	p.K1370E	CCDC88A_ENST00000263630.8_Missense_Mutation_p.K1370E|CCDC88A_ENST00000413716.2_Missense_Mutation_p.K1369E|AC012358.8_ENST00000366287.4_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.K1369E	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1370					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.K1369E(1)|p.K1370E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGTTTCTCCTTCTGACGTCTT	0.284000													3	12					0	0	0.004672	0	0
SNIP1	79753	broad.mit.edu	37	1	38019714	38019714	+	Silent	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:38019714T>C	ENST00000296215.6	-	1	189	c.117A>G	c.(115-117)gcA>gcG	p.A39A	SNIP1_ENST00000468040.1_Intron	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	39					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	p.A39A(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GGGCGGGAGGTGCGACTTCTG	0.751000													5	13					0	0	0.001168	0	0
DNAH11	8701	broad.mit.edu	37	7	21742341	21742341	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:21742341G>T	ENST00000328843.6	+	38	6246	c.6215G>T	c.(6214-6216)tGg>tTg	p.W2072L	DNAH11_ENST00000409508.3_Missense_Mutation_p.W2065L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2072	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.W2072L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CATTACGACTGGGGACTTCGT	0.378000									Kartagener syndrome				10	25					7.48243e-07	9.46125e-07	0.006214	1	0
CACNG7	59284	broad.mit.edu	37	19	54417828	54417828	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:54417828G>T	ENST00000391767.1	+	3	483	c.271G>T	c.(271-273)Gag>Tag	p.E91*	CACNG7_ENST00000222212.2_Nonsense_Mutation_p.E91*|CACNG7_ENST00000391766.1_Nonsense_Mutation_p.E91*|CACNG7_ENST00000468076.1_Intron			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	91					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E91*(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GGAAAACACGGAGAATATTCT	0.552000													11	24					2.80697e-09	3.95822e-09	0.010729	1	0
MLEC	9761	broad.mit.edu	37	12	121125332	121125332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr12:121125332G>T	ENST00000228506.3	+	1	661	c.233G>T	c.(232-234)cGa>cTa	p.R78L	MLEC_ENST00000412616.2_Missense_Mutation_p.R78L	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	78					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.R78L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CGGGTGGGCCGAGGTGAGAGT	0.726000													3	9					0.004672	0.00506962	0.004672	1	0
OTUD7B	56957	broad.mit.edu	37	1	149936267	149936267	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:149936267C>A	ENST00000369135.3	-	6	906	c.612G>T	c.(610-612)tgG>tgT	p.W204C	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	204	Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	p.W204C(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CATGGAAACCCCACATTCCTG	0.468000													24	73					9.90768e-06	1.21757e-05	0.004656	1	0
ABCC12	94160	broad.mit.edu	37	16	48130791	48130791	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr16:48130791C>T	ENST00000311303.3	-	22	3406	c.3061G>A	c.(3061-3063)Gct>Act	p.A1021T	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1021	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A1021T(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CACCTGAGAGCACAGTTAAAG	0.463000													13	69					0	0	0.016723	0	0
DAB2IP	153090	broad.mit.edu	37	9	124543753	124543753	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr9:124543753G>T	ENST00000408936.3	+	15	3507	c.3325G>T	c.(3325-3327)Gtg>Ttg	p.V1109L	DAB2IP_ENST00000309989.1_Missense_Mutation_p.V985L|DAB2IP_ENST00000259371.2_Missense_Mutation_p.V1081L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1109					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	p.V985L(1)|p.V1081L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GTTGATGTCCGTGGAGGAAGA	0.587000													20	31					1.01871e-10	1.49868e-10	0.008871	1	0
CD300C	10871	broad.mit.edu	37	17	72540834	72540834	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr17:72540834G>T	ENST00000330793.1	-	2	674	c.314C>A	c.(313-315)gCa>gAa	p.A105E		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	105	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.A105E(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GTAGGTGCCTGCGTCCTCCTC	0.572000													14	41					1.3612e-06	1.70012e-06	0.003163	1	0
SCFD1	23256	broad.mit.edu	37	14	31169464	31169464	+	Splice_Site	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr14:31169464G>T	ENST00000458591.2	+	16	1637	c.1410_splice	c.e16+1	p.E470_splice	SCFD1_ENST00000396629.2_Splice_Site_p.E378_splice|SCFD1_ENST00000554486.1_3'UTR|SCFD1_ENST00000544052.2_Splice_Site_p.E403_splice|SCFD1_ENST00000541123.1_Splice_Site_p.E285_splice|SCFD1_ENST00000421551.3_Splice_Site_p.E411_splice	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	470					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	p.E470D(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CACCTTCTGAGGTATGTCCTT	0.353000													32	105					7.16026e-08	9.48502e-08	0.012213	1	0
DCX	1641	broad.mit.edu	37	X	110653443	110653443	+	Missense_Mutation	SNP	C	C	T	rs104894779		TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chrX:110653443C>T	ENST00000338081.3	-	2	598	c.427G>A	c.(427-429)Gac>Aac	p.D143N	DCX_ENST00000356915.2_Missense_Mutation_p.D62N|DCX_ENST00000356220.3_Missense_Mutation_p.D62N|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.D62N|DCX_ENST00000371993.2_Missense_Mutation_p.D62N	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	143	Doublecortin 1.		D -> N (in LISX1 and SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.D62N(1)|p.D143N(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AAGTAGCGGTCCCCATTGCGG	0.537000													17	55					0	0	0.004990	0	0
DOCK7	85440	broad.mit.edu	37	1	63128798	63128798	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:63128798C>A	ENST00000251157.5	-	2	75	c.42G>T	c.(40-42)acG>acT	p.T14T	DOCK7_ENST00000340370.5_Silent_p.T14T|DOCK7_ENST00000404627.2_Silent_p.T14T	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	14					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.T14T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CGGCTGCCACCGTTCTACAAT	0.353000													29	89					6.38683e-12	9.53351e-12	0.008361	1	0
OSBPL5	114879	broad.mit.edu	37	11	3114834	3114834	+	Silent	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:3114834C>T	ENST00000263650.7	-	17	2028	c.1869G>A	c.(1867-1869)ccG>ccA	p.P623P	OSBPL5_ENST00000542243.1_Silent_p.P254P|OSBPL5_ENST00000478260.1_Silent_p.P77P|OSBPL5_ENST00000525498.1_Silent_p.P534P|OSBPL5_ENST00000389989.3_Silent_p.P555P|OSBPL5_ENST00000348039.5_Silent_p.P555P	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	623					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	p.P623P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTCCCCGCTCGGGGTCCAGA	0.672000													13	41					0	0	0.020292	0	0
EGLN1	54583	broad.mit.edu	37	1	231509813	231509813	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:231509813C>A	ENST00000366641.3	-	2	4079	c.924G>T	c.(922-924)acG>acT	p.T308T	EGLN1_ENST00000476717.1_5'UTR	NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN	egl-9 family hypoxia-inducible factor 1	308	Fe2OG dioxygenase.				negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding	p.T308T(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	GTACATAACCCGTTCCATTGC	0.338000													30	51					4.15321e-07	5.29534e-07	0.009535	1	0
IL26	55801	broad.mit.edu	37	12	68595652	68595652	+	Silent	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr12:68595652A>T	ENST00000229134.4	-	5	553	c.489T>A	c.(487-489)atT>atA	p.I163I	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	163					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	p.I163I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ATAATTTTTTAATCCAGGAAA	0.294000													13	60					0	0	0.004990	0	0
TYR	7299	broad.mit.edu	37	11	88911127	88911127	+	Silent	SNP	C	C	A	rs35541275		TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:88911127C>A	ENST00000263321.5	+	1	508	c.6C>A	c.(4-6)ctC>ctA	p.L2L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	2					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.L3M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GAAGAATGCTCCTGGCTGTTT	0.483000													6	44					0.00198382	0.00219945	0.001984	1	0
DCST1	149095	broad.mit.edu	37	1	155011920	155011920	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:155011920T>G	ENST00000295542.1	+	5	400	c.304T>G	c.(304-306)Tgt>Ggt	p.C102G	DCST1_ENST00000423025.2_Missense_Mutation_p.C77G|DCST1_ENST00000368419.2_Missense_Mutation_p.C102G|DCST1_ENST00000392480.1_Missense_Mutation_p.C102G	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	102						integral to membrane	zinc ion binding	p.C102G(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCACATCCGCTGTGCCAGCCT	0.612000													19	85					0	0	0.010504	0	0
KDM2A	22992	broad.mit.edu	37	11	67013473	67013473	+	Silent	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:67013473A>T	ENST00000529006.2	+	15	2297	c.1851A>T	c.(1849-1851)tcA>tcT	p.S617S	KDM2A_ENST00000530342.1_Silent_p.S178S|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.S617S|KDM2A_ENST00000308783.5_Silent_p.S75S	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.S617S(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGCCTCACTCAGTCACATGTT	0.423000													15	52					0	0	0.004007	0	0
CRB1	23418	broad.mit.edu	37	1	197390959	197390959	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:197390959G>T	ENST00000367397.1	+	2	1002	c.144G>T	c.(142-144)aaG>aaT	p.K48N	CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.K148N|CRB1_ENST00000535699.1_Missense_Mutation_p.K598N|CRB1_ENST00000367400.3_Missense_Mutation_p.K667N|CRB1_ENST00000367399.2_Missense_Mutation_p.K555N|CRB1_ENST00000538660.1_Missense_Mutation_p.K667N			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	667	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.K667N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAAATGTCAAGGCAGGCTGTG	0.473000													16	136					7.07596e-05	8.23287e-05	0.006122	1	0
MYPN	84665	broad.mit.edu	37	10	69948775	69948775	+	Silent	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr10:69948775G>T	ENST00000358913.5	+	13	3305	c.2817G>T	c.(2815-2817)acG>acT	p.T939T	MYPN_ENST00000354393.2_Silent_p.T664T|MYPN_ENST00000540630.1_Silent_p.T939T	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	939						nucleus|sarcomere	actin binding	p.T939T(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGATCCCCACGGGCAAGTGTA	0.453000													16	37					4.7546e-09	6.64342e-09	0.004007	1	0
IQUB	154865	broad.mit.edu	37	7	123143273	123143273	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:123143273G>T	ENST00000466202.1	-	4	1253	c.677C>A	c.(676-678)aCt>aAt	p.T226N	IQUB_ENST00000324698.6_Missense_Mutation_p.T226N|IQUB_ENST00000488987.1_5'UTR|IQUB_ENST00000434450.1_Missense_Mutation_p.T226N			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	226								p.T226N(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GACAGTGACAGTTATGATTTG	0.358000													60	142					2.40265e-35	4.15373e-35	0.014410	1	0
ROBO2	6092	broad.mit.edu	37	3	77651490	77651490	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr3:77651490C>A	ENST00000461745.1	+	20	3884	c.2984C>A	c.(2983-2985)aCc>aAc	p.T995N	ROBO2_ENST00000332191.8_Missense_Mutation_p.T995N|ROBO2_ENST00000487694.3_Missense_Mutation_p.T1011N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	995					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.T1011N(1)|p.T995N(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACACAGGCTACCCCATATGCC	0.428000													10	22					2.17888e-05	2.58425e-05	0.006214	1	0
ZNF107	51427	broad.mit.edu	37	7	64168599	64168599	+	Silent	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:64168599A>T	ENST00000395391.1	+	4	3292	c.1917A>T	c.(1915-1917)gcA>gcT	p.A639A	ZNF107_ENST00000344930.3_Silent_p.A639A|ZNF107_ENST00000423627.1_Silent_p.A639A			Q9UII5	ZN107_HUMAN	zinc finger protein 107	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A639A(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACCAATGTGCAGAATGTGGCA	0.373000													16	32					0	0	0.004990	0	0
POLD2	5425	broad.mit.edu	37	7	44154947	44154947	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:44154947G>T	ENST00000406581.2	-	11	1845	c.1196C>A	c.(1195-1197)cCg>cAg	p.P399Q	POLD2_ENST00000452185.1_Missense_Mutation_p.P399Q|POLD2_ENST00000223361.3_Missense_Mutation_p.P385Q	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	399					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	p.P399Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GTAGACATGCGGGCACTCTGG	0.532000													19	53					1.40151e-16	2.22208e-16	0.010504	1	0
TTN	7273	broad.mit.edu	37	2	179395870	179395870	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:179395870G>T	ENST00000589042.1	-	358	105696	c.105472C>A	c.(105472-105474)Cca>Aca	p.P35158T	TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P26093T|TTN_ENST00000359218.5_Missense_Mutation_p.P26218T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P33517T|TTN_ENST00000342992.6_Missense_Mutation_p.P32590T|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P26285T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33517							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P26218T(1)|p.P32590T(1)|p.P26093T(1)|p.P26285T(1)|p.P32588T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCACAGTTGGTACCGGCTCA	0.507000													37	147					1.57351e-24	2.57484e-24	0.017118	1	0
RCOR3	55758	broad.mit.edu	37	1	211487073	211487073	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:211487073T>A	ENST00000367005.4	+	11	1592	c.1451T>A	c.(1450-1452)aTt>aAt	p.I484N	RCOR3_ENST00000367006.4_3'UTR|RCOR3_ENST00000419091.2_Missense_Mutation_p.I542N|RCOR3_ENST00000526255.1_3'UTR	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.I484N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CCATCACTTATTGGAATTCAG	0.478000													11	43					0	0	0.008291	0	0
DDX43	55510	broad.mit.edu	37	6	74117809	74117809	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:74117809G>A	ENST00000370336.4	+	9	1322	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	388	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.K388K(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCAATCTGAAGAATATAACCT	0.413000													13	55					0	0	0.003163	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													5	76					2.0095e-06	2.4895e-06	0.001984	1	0
TLR2	7097	broad.mit.edu	37	4	154626374	154626374	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr4:154626374A>T	ENST00000260010.6	+	1	3723	c.2315A>T	c.(2314-2316)gAa>gTa	p.E772V		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	772	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	p.E772V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GCTCAGCGGGAAGGATTTTGG	0.468000													15	46					0	0	0.004007	0	0
E2F7	144455	broad.mit.edu	37	12	77427701	77427701	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr12:77427701C>A	ENST00000322886.7	-	8	1480	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H	E2F7_ENST00000416496.2_Missense_Mutation_p.Q415H	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	415					cell cycle	transcription factor complex	DNA binding|identical protein binding	p.Q415H(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TCTCAGAAGCCTGAACTGTGT	0.458000													41	75					3.61848e-18	5.82765e-18	0.007835	1	0
OBSCN	84033	broad.mit.edu	37	1	228402005	228402005	+	Silent	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:228402005G>T	ENST00000570156.2	+	4	1463	c.1389G>T	c.(1387-1389)ggG>ggT	p.G463G	OBSCN_ENST00000284548.11_Silent_p.G463G|OBSCN_ENST00000422127.1_Silent_p.G463G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	463	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.G463G(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGTGGCGGGGGGCCGCGTGG	0.697000													6	54					2.7689e-08	3.79947e-08	0.001984	1	0
ZIM3	114026	broad.mit.edu	37	19	57646819	57646819	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:57646819G>T	ENST00000269834.1	-	5	1271	c.886C>A	c.(886-888)Caa>Aaa	p.Q296K		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q296K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTTTTATGTTGAATGAGGGTT	0.368000													20	138					4.26978e-12	6.40467e-12	0.018920	1	0
ZNF676	163223	broad.mit.edu	37	19	22363072	22363072	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:22363072C>T	ENST00000397121.2	-	3	1764	c.1447G>A	c.(1447-1449)Ggc>Agc	p.G483S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G483S(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAGCCTTTGCCACATTCTTCA	0.398000													21	42					0	0	0.008871	0	0
OR5A2	219981	broad.mit.edu	37	11	59190311	59190311	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:59190311G>C	ENST00000302040.4	-	1	138	c.116C>G	c.(115-117)aCg>aGg	p.T39R		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T39R(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCAGGCCAACGTCAGGAGGTA	0.448000													31	45					0	0	0.009535	0	0
TRMT10A	93587	broad.mit.edu	37	4	100478502	100478502	+	Splice_Site	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr4:100478502C>A	ENST00000273962.3	-	4	732	c.420_splice	c.e4+1	p.Q140_splice	TRMT10A_ENST00000394876.2_Splice_Site_p.Q140_splice|TRMT10A_ENST00000394877.3_Splice_Site_p.Q140_splice	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)									p.Q140H(1)									TTACACATACCTGCACAGGAT	0.363000													10	49					2.17888e-05	2.58425e-05	0.006214	1	0
NCOR2	9612	broad.mit.edu	37	12	124812059	124812059	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr12:124812059A>G	ENST00000356219.3	-	46	7255	c.7100T>C	c.(7099-7101)cTc>cCc	p.L2367P	NCOR2_ENST00000404121.2_Missense_Mutation_p.L1921P|NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000429285.2_Missense_Mutation_p.L2350P|NCOR2_ENST00000405201.1_Missense_Mutation_p.L2360P|NCOR2_ENST00000404621.1_Intron	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2371					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.L2360P(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ATTGGCGCTGAGCGGCGGGGA	0.582000													13	25					0	0	0.013537	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39418930	39418930	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr22:39418930A>C	ENST00000216099.7	+	2	528	c.121A>C	c.(121-123)Ata>Cta	p.I41L	APOBEC3D_ENST00000427494.2_Missense_Mutation_p.I41L|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.I41L	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	41					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	p.I41L(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TGAAGTGAAAATAAAGAGGGG	0.512000													15	50					0	0	0.007413	0	0
UPP2	151531	broad.mit.edu	37	2	158971741	158971741	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:158971741G>A	ENST00000605860.1	+	6	526	c.480G>A	c.(478-480)atG>atA	p.M160I	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Missense_Mutation_p.M160I|UPP2_ENST00000005756.4_Missense_Mutation_p.M103I			O95045	UPP2_HUMAN	uridine phosphorylase 2	103					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	p.M103I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GATACTGTATGTACAAAACCG	0.438000													11	47					0	0	0.008291	0	0
COPS7A	50813	broad.mit.edu	37	12	6833886	6833886	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr12:6833886G>A	ENST00000543155.1	+	2	546	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	COPS7A_ENST00000534947.1_Missense_Mutation_p.A22T|COPS7A_ENST00000539735.1_Missense_Mutation_p.A22T|COPS7A_ENST00000534877.1_Missense_Mutation_p.A22T|COPS7A_ENST00000542150.1_Intron|COPS7A_ENST00000229251.3_Missense_Mutation_p.A22T|COPS7A_ENST00000538410.1_Missense_Mutation_p.A22T	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	22					cullin deneddylation	cytoplasm|signalosome		p.A22T(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						AGCCAAGTCGGCCAAGGGGGC	0.577000													11	61					0	0	0.008291	0	0
TEKT4	150483	broad.mit.edu	37	2	95541448	95541448	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:95541448G>C	ENST00000295201.4	+	5	1189	c.1052G>C	c.(1051-1053)cGg>cCg	p.R351P	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	351					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.R351P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGCTCGCACCGGCCCAACATG	0.637000													7	26					0	0	0.001984	0	0
OR8I2	120586	broad.mit.edu	37	11	55861048	55861048	+	Missense_Mutation	SNP	C	C	T	rs138846423		TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:55861048C>T	ENST00000302124.2	+	1	296	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	OR8I2_ENST00000560768.1_Missense_Mutation_p.R89W			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89L(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CCAATCCAATCGGAGATCCAT	0.398000													29	178					0	0	0.008361	0	0
SYT6	148281	broad.mit.edu	37	1	114682356	114682356	+	Silent	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:114682356G>T	ENST00000393296.1	-	2	470	c.393C>A	c.(391-393)gcC>gcA	p.A131A	SYT6_ENST00000369547.1_Silent_p.A46A			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	131					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.A46A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATCTTCACGGCCGCCTCCA	0.617000													10	51					1.76689e-08	2.43545e-08	0.006214	1	0
FCRL2	79368	broad.mit.edu	37	1	157737280	157737280	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:157737280G>A	ENST00000361516.3	-	6	951	c.903C>T	c.(901-903)gtC>gtT	p.V301V	FCRL2_ENST00000469986.1_Silent_p.V48V|FCRL2_ENST00000392274.3_Silent_p.V301V|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	301	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.V48V(1)|p.V301V(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGAGGGTGAGGACAGGGCGAG	0.552000													8	42					0	0	0.004482	0	0
GPRASP2	114928	broad.mit.edu	37	X	101969993	101969993	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chrX:101969993G>T	ENST00000543253.1	+	5	1115	c.196G>T	c.(196-198)Gcc>Tcc	p.A66S	GPRASP2_ENST00000535209.1_Missense_Mutation_p.A66S|GPRASP2_ENST00000332262.5_Missense_Mutation_p.A66S	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2									p.A66S(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CAAAACTGAGGCCCAAGCAAT	0.582000													34	24					2.20262e-25	3.66305e-25	0.013726	1	0
ASB7	140460	broad.mit.edu	37	15	101170058	101170058	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr15:101170058C>T	ENST00000332783.7	+	5	1413	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	ASB7_ENST00000343276.4_Missense_Mutation_p.R210C|ASB7_ENST00000558747.1_Intron	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	210					intracellular signal transduction			p.R210C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			AAACTTGGGTCGCTTAGAAGA	0.473000													3	46					0	0	0.004672	0	0
MMP20	9313	broad.mit.edu	37	11	102482490	102482490	+	Silent	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:102482490A>G	ENST00000260228.2	-	3	531	c.519T>C	c.(517-519)aaT>aaC	p.N173N	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	173					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.N173N(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CAATACCTCCATTTTCAAAAG	0.438000													18	40					0	0	0.012319	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369930	86369930	+	Silent	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr13:86369930T>C	ENST00000400286.2	-	2	1312	c.714A>G	c.(712-714)ccA>ccG	p.P238P		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	238	LRRCT 1.					integral to membrane		p.P238P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTATAGACTGTGGAGGCATGT	0.413000													19	87					0	0	0.007413	0	0
IL21R	50615	broad.mit.edu	37	16	27460086	27460086	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr16:27460086A>T	ENST00000337929.3	+	9	1572	c.1099A>T	c.(1099-1101)Agg>Tgg	p.R367W	IL21R_ENST00000395754.4_Missense_Mutation_p.R367W|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.R367W|IL21R_ENST00000395755.1_Missense_Mutation_p.R367W	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	367					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.R367W(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CAGTGAGGAGAGGGATCGGCC	0.617000			T	BCL6	NHL								9	48					0	0	0.006214	0	0
ACER1	125981	broad.mit.edu	37	19	6312483	6312483	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr19:6312483C>A	ENST00000301452.4	-	2	198	c.121G>T	c.(121-123)Ggg>Tgg	p.G41W		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	41						endoplasmic reticulum membrane|integral to membrane	ceramidase activity	p.G41W(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						ATCAGTGGCCCGAAGATGAAG	0.557000													19	39					0.000958276	0.00107411	0.007413	1	0
CSMD1	64478	broad.mit.edu	37	8	2944743	2944743	+	Silent	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr8:2944743C>T	ENST00000602557.1	-	50	7908	c.7353G>A	c.(7351-7353)gcG>gcA	p.A2451A	CSMD1_ENST00000542608.1_Silent_p.A2450A|CSMD1_ENST00000537824.1_Silent_p.A2450A|CSMD1_ENST00000602723.1_Silent_p.A2451A|CSMD1_ENST00000520002.1_Silent_p.A2451A|CSMD1_ENST00000400186.3_Silent_p.A2451A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2451	Sushi 14.					integral to membrane		p.A2450A(1)|p.A2179A(1)		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)		TGCTTCCAACCGCTCCTGCAG	0.507000													7	45					0	0	0.003080	0	0
TGM6	343641	broad.mit.edu	37	20	2397970	2397970	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr20:2397970G>T	ENST00000202625.2	+	10	1490	c.1429G>T	c.(1429-1431)Ggg>Tgg	p.G477W	TGM6_ENST00000381423.1_Missense_Mutation_p.G477W	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	477					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G477W(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCGCAGGGCTGGGGGTCGCTG	0.637000													3	8					0.004672	0.00506962	0.004672	1	0
OR8J3	81168	broad.mit.edu	37	11	55904455	55904455	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:55904455G>A	ENST00000301529.1	-	1	739	c.740C>T	c.(739-741)gCa>gTa	p.A247V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A247V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AACCGTGACTGCTATCATATG	0.398000													9	62					0	0	0.004482	0	0
EPSTI1	94240	broad.mit.edu	37	13	43528100	43528100	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr13:43528100T>C	ENST00000313640.7	-	6	611	c.547A>G	c.(547-549)Aga>Gga	p.R183G	EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000398762.3_Missense_Mutation_p.R183G|EPSTI1_ENST00000313624.7_Missense_Mutation_p.R183G	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	183								p.R183G(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TGATGCTCTCTAAATGCTTCT	0.323000													11	29					0	0	0.010729	0	0
ANKRD44	91526	broad.mit.edu	37	2	197954713	197954713	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:197954713T>G	ENST00000328737.2	-	11	1145	c.1069A>C	c.(1069-1071)Aat>Cat	p.N357H	ANKRD44_ENST00000450567.1_Missense_Mutation_p.N357H|ANKRD44_ENST00000539527.1_Missense_Mutation_p.N310H|ANKRD44_ENST00000282272.8_Missense_Mutation_p.N374H|ANKRD44_ENST00000409153.1_Missense_Mutation_p.N382H|ANKRD44_ENST00000337207.5_Missense_Mutation_p.N357H			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	382							protein binding	p.N382H(1)|p.N357H(1)|p.N179H(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GAGTGAGCATTTAGGGCAGCT	0.438000													12	68					0	0	0.003163	0	0
ITGA5	3678	broad.mit.edu	37	12	54803130	54803130	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr12:54803130C>A	ENST00000293379.4	-	4	730	c.469G>T	c.(469-471)Gct>Tct	p.A157S	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	157					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.A157S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TACAGTGGAGCGCATGCCTGG	0.617000													4	18					0.000602214	0.000679991	0.014758	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130799844	130799844	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr5:130799844G>A	ENST00000509018.1	-	18	2575	c.2370C>T	c.(2368-2370)tcC>tcT	p.S790S	RAPGEF6_ENST00000307984.5_Silent_p.S795S|RAPGEF6_ENST00000510071.1_Silent_p.S790S|RAPGEF6_ENST00000308008.6_Silent_p.S790S|RAPGEF6_ENST00000296859.6_Silent_p.S790S|FNIP1_ENST00000514667.1_Silent_p.S840S|RAPGEF6_ENST00000512052.1_Silent_p.S505S|RAPGEF6_ENST00000507093.1_Silent_p.S790S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	790	Ras-associating.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	p.S790S(2)|p.S840S(1)|p.S795S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AATATGTGTCGGATGCACCGG	0.393000													23	37					0	0	0.021523	0	0
CASQ1	844	broad.mit.edu	37	1	160163610	160163610	+	Silent	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:160163610T>C	ENST00000368079.3	+	3	695	c.420T>C	c.(418-420)gcT>gcC	p.A140A	CASQ1_ENST00000368078.3_Silent_p.A146A	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	146			Y -> F (in dbSNP:rs34489853).			mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	p.A140A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGTTTTCTGCTGACACCATCG	0.547000													15	59					0	0	0.004007	0	0
GPNMB	10457	broad.mit.edu	37	7	23296665	23296665	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:23296665C>G	ENST00000258733.4	+	4	817	c.522C>G	c.(520-522)atC>atG	p.I174M	GPNMB_ENST00000539136.1_Missense_Mutation_p.I75M|GPNMB_ENST00000409458.3_Missense_Mutation_p.I174M|GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000381990.2_Missense_Mutation_p.I174M			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	174					negative regulation of cell proliferation	melanosome		p.I174M(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GGAATTTCATCTACGTCTTCC	0.438000													37	74					0	0	0.009718	0	0
DNAH9	1770	broad.mit.edu	37	17	11806036	11806036	+	Splice_Site	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr17:11806036G>T	ENST00000262442.3	+	60	11475	c.11406_splice	c.e60-1	p.V3803_splice	DNAH9_ENST00000454412.2_Splice_Site_p.V3803_splice|DNAH9_ENST00000396001.2_Splice_Site_p.V115_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3803					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V3803L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AATTTCCCAGGTACTTTCATC	0.428000													13	33					0.00010058	0.000115705	0.013537	1	0
NF1	4763	broad.mit.edu	37	17	29546053	29546053	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr17:29546053G>C	ENST00000358273.4	+	14	1941	c.1558G>C	c.(1558-1560)Ggc>Cgc	p.G520R	NF1_ENST00000431387.4_Missense_Mutation_p.G520R|NF1_ENST00000356175.3_Missense_Mutation_p.G520R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	520					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)|p.G520R(2)|p.N510_E547del(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGAAACCCAAGGCAGTACAGC	0.418000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			3	27					0	0	0.009096	0	0
PRMT8	56341	broad.mit.edu	37	12	3701463	3701463	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr12:3701463G>A	ENST00000382622.3	+	9	1436	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.R340Q	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	349					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.R349Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTCACTGTCCGGAGGGGGGAG	0.542000													30	76					0	0	0.008361	0	0
CD300C	10871	broad.mit.edu	37	17	72540836	72540836	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr17:72540836G>T	ENST00000330793.1	-	2	672	c.312C>A	c.(310-312)gaC>gaA	p.D104E		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	104	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.D104E(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						AGGTGCCTGCGTCCTCCTCTG	0.582000													14	40					1.3612e-06	1.70012e-06	0.003163	1	0
C7	730	broad.mit.edu	37	5	40947905	40947905	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr5:40947905A>G	ENST00000313164.9	+	8	1299	c.940A>G	c.(940-942)Aga>Gga	p.R314G		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	314	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.R314G(1)					Ovarian(839;0.0112)				AGGAGAATACAGAGTTCTATT	0.388000													17	60					0	0	0.004007	0	0
RNF213	57674	broad.mit.edu	37	17	78269454	78269454	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr17:78269454G>A	ENST00000582970.1	+	10	1996	c.1853G>A	c.(1852-1854)aGt>aAt	p.S618N	RNF213_ENST00000319921.4_Missense_Mutation_p.S618N|RNF213_ENST00000456466.1_Missense_Mutation_p.S618N|RNF213_ENST00000508628.2_Missense_Mutation_p.S667N	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	618								p.S618N(2)|p.S667N(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCAGTGAGGAGTAAACTGAAA	0.463000													5	31					0	0	0.014758	0	0
PLEC	5339	broad.mit.edu	37	8	144994080	144994080	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr8:144994080C>A	ENST00000322810.4	-	32	10489	c.10320G>T	c.(10318-10320)ctG>ctT	p.L3440L	PLEC_ENST00000345136.3_Silent_p.L3303L|PLEC_ENST00000356346.3_Silent_p.L3289L|PLEC_ENST00000357649.2_Silent_p.L3307L|PLEC_ENST00000354958.2_Silent_p.L3281L|PLEC_ENST00000527096.1_Silent_p.L3326L|PLEC_ENST00000436759.2_Silent_p.L3330L|PLEC_ENST00000398774.2_Silent_p.L3271L|PLEC_ENST00000354589.3_Silent_p.L3303L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3440	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.L3330L(1)|p.L3440L(1)|p.L3303L(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTGAAGGACAGCCTCTCCT	0.622000													5	75					0.014758	0.0156804	0.014758	1	0
ABCA3	21	broad.mit.edu	37	16	2338148	2338148	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr16:2338148G>A	ENST00000301732.5	-	21	3583	c.2883C>T	c.(2881-2883)ggC>ggT	p.G961G	ABCA3_ENST00000382381.3_Silent_p.G903G	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	961					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.G961G(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGCCGTACTCGCCCAAGGTCA	0.632000													7	10					0	0	0.001984	0	0
NAF1	92345	broad.mit.edu	37	4	164087832	164087832	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr4:164087832G>A	ENST00000274054.2	-	1	241	c.48C>T	c.(46-48)ttC>ttT	p.F16F	NAF1_ENST00000422287.2_Silent_p.F16F	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	16					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	p.F16F(2)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				CGGTGCCATTGAATTTCAGAG	0.652000													4	14					0	0	0.009096	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30888023	30888023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr12:30888023C>A	ENST00000251071.5	-	4	1438	c.688G>T	c.(688-690)Gag>Tag	p.E230*	CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000395805.2_Nonsense_Mutation_p.E230*|CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.E230*|CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.E230*|CAPRIN2_ENST00000538387.1_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	230					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	p.E230*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGTACGTGCTCCTGTGTCAAG	0.423000													57	168					4.09106e-26	6.8408e-26	0.014410	1	0
LEO1	123169	broad.mit.edu	37	15	52246769	52246769	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr15:52246769C>G	ENST00000299601.5	-	7	1309	c.1249G>C	c.(1249-1251)Gaa>Caa	p.E417Q	LEO1_ENST00000315141.5_Intron	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	417					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.E417Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		ATAGTATTTTCTACCTGTTTC	0.363000													25	93					0	0	0.004656	0	0
NXPE2	120406	broad.mit.edu	37	11	114568806	114568806	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:114568806G>A	ENST00000375475.5	+	3	270	c.172G>A	c.(172-174)Ggg>Agg	p.G58R	NXPE2_ENST00000389586.4_Missense_Mutation_p.G58R					neurexophilin and PC-esterase domain family, member 2									p.G58R(2)									CCTGAACCAAGGGAACATCTT	0.353000													5	12					0	0	0.014758	0	0
FBN1	2200	broad.mit.edu	37	15	48703402	48703402	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr15:48703402C>T	ENST00000316623.5	-	66	8856	c.8401G>A	c.(8401-8403)Gat>Aat	p.D2801N	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2801					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.D2801N(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AAGAAGCCATCTTCATTTCCA	0.413000													25	127					0	0	0.021523	0	0
HEMGN	55363	broad.mit.edu	37	9	100693001	100693001	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr9:100693001C>A	ENST00000259456.3	-	4	819	c.676G>T	c.(676-678)Gaa>Taa	p.E226*		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	226					cell differentiation|multicellular organismal development			p.E226*(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GCCAGATCTTCTCGTTTAGCC	0.428000													9	254					3.09899e-07	3.96774e-07	0.004482	1	0
FBXO15	201456	broad.mit.edu	37	18	71797821	71797821	+	Silent	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr18:71797821C>T	ENST00000269500.5	-	4	512	c.177G>A	c.(175-177)gaG>gaA	p.E59E	FBXO15_ENST00000419743.2_Silent_p.E135E	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	59								p.E59E(1)|p.E135E(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TAGCTATCTTCTCTACTGAAT	0.348000													17	28					0	0	0.004007	0	0
TPX2	22974	broad.mit.edu	37	20	30354472	30354472	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr20:30354472G>A	ENST00000340513.4	+	5	871	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	TPX2_ENST00000300403.6_Missense_Mutation_p.A115T			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	115					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.A115T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAAAACTCCAGCCCAGCCTCA	0.398000													35	90					0	0	0.005524	0	0
SH2B1	25970	broad.mit.edu	37	16	28884500	28884500	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr16:28884500A>T	ENST00000337120.5	+	8	5198	c.1907A>T	c.(1906-1908)cAg>cTg	p.Q636L	SH2B1_ENST00000563674.1_3'UTR|SH2B1_ENST00000545570.1_Missense_Mutation_p.R344W|SH2B1_ENST00000538342.1_Missense_Mutation_p.Q300L|SH2B1_ENST00000395532.4_Missense_Mutation_p.Q636L|SH2B1_ENST00000359285.5_Missense_Mutation_p.R654W|SH2B1_ENST00000322610.8_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	634					blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.Q636L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGCCGGGAGCAGGCTGGGAGC	0.652000													3	3					0	0	0.004672	0	0
NOTCH1	4851	broad.mit.edu	37	9	139409124	139409124	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr9:139409124C>A	ENST00000277541.6	-	13	2120	c.2045G>T	c.(2044-2046)tGt>tTt	p.C682F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	682	EGF-like 18; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.C682F(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTGCCCGCACACTCATCGAT	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	8					6.4e-05	7.47481e-05	0.004672	1	0
KLHL1	57626	broad.mit.edu	37	13	70681367	70681367	+	Silent	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr13:70681367A>G	ENST00000377844.4	-	1	1224	c.465T>C	c.(463-465)tcT>tcC	p.S155S	KLHL1_ENST00000545028.1_Silent_p.S23S|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	155					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S155S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTGCCTGGCTAGAGTTGTCTG	0.537000													30	83					0	0	0.015359	0	0
MGAT5	4249	broad.mit.edu	37	2	135076256	135076256	+	Silent	SNP	C	C	T	rs149877815		TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:135076256C>T	ENST00000409645.1	+	5	771	c.519C>T	c.(517-519)taC>taT	p.Y173Y	MGAT5_ENST00000281923.2_Silent_p.Y173Y			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	173					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	p.Y173Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		ATCCCTGCTACGCAGACTATG	0.502000													52	173					0	0	0.014410	0	0
VAT1L	57687	broad.mit.edu	37	16	77918564	77918564	+	Silent	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr16:77918564G>C	ENST00000302536.2	+	7	1095	c.942G>C	c.(940-942)gcG>gcC	p.A314A		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	314							oxidoreductase activity|zinc ion binding	p.A314A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AAGTCATCGCGGGGTTTTCCC	0.498000													4	7					0	0	0.009096	0	0
PNPLA1	285848	broad.mit.edu	37	6	36269736	36269736	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:36269736C>A	ENST00000394571.2	+	6	874	c.874C>A	c.(874-876)Cgc>Agc	p.R292S	PNPLA1_ENST00000388715.3_Missense_Mutation_p.R197S|PNPLA1_ENST00000312917.5_Missense_Mutation_p.R206S	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	292					lipid catabolic process		hydrolase activity	p.R292S(1)|p.R197S(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GTGCCCTGAACGCAGTCAACC	0.547000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	34					7.93312e-07	9.98986e-07	0.020292	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599576	136599576	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:136599576G>T	ENST00000531224.1	-	4	695	c.443C>A	c.(442-444)tCc>tAc	p.S148Y	BCLAF1_ENST00000527536.1_Missense_Mutation_p.S148Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S146Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S146Y|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S146Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S148Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	148	Poly-Ser.				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.S148Y(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GCTATATGGGGATGAAGAACG	0.433000													51	241					2.0833e-19	3.37296e-19	0.014410	1	0
PCLO	27445	broad.mit.edu	37	7	82544816	82544816	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:82544816C>A	ENST00000423517.2	-	7	12823	c.12486G>T	c.(12484-12486)gaG>gaT	p.E4162D	PCLO_ENST00000437081.1_Missense_Mutation_p.E882D|PCLO_ENST00000333891.8_Missense_Mutation_p.E4162D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4093					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E4162D(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTATACTTCTCAGATTTTG	0.388000													24	87					5.49717e-05	6.46974e-05	0.018920	1	0
PDE8B	8622	broad.mit.edu	37	5	76715644	76715644	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr5:76715644G>C	ENST00000264917.5	+	19	2227	c.2182G>C	c.(2182-2184)Gag>Cag	p.E728Q	PDE8B_ENST00000342343.4_Missense_Mutation_p.E708Q|PDE8B_ENST00000333194.4_Missense_Mutation_p.E673Q|PDE8B_ENST00000346042.3_Missense_Mutation_p.E631Q|PDE8B_ENST00000505283.1_Missense_Mutation_p.E193Q|PDE8B_ENST00000340978.3_Missense_Mutation_p.E681Q	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	728	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.E728Q(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TTTGGCAACAGAGATGACAAA	0.433000													36	55					0	0	0.017118	0	0
DCST1	149095	broad.mit.edu	37	1	155011919	155011919	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:155011919C>A	ENST00000295542.1	+	5	399	c.303C>A	c.(301-303)cgC>cgA	p.R101R	DCST1_ENST00000423025.2_Silent_p.R76R|DCST1_ENST00000368419.2_Silent_p.R101R|DCST1_ENST00000392480.1_Silent_p.R101R	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	101						integral to membrane	zinc ion binding	p.C102G(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CTCACATCCGCTGTGCCAGCC	0.612000													19	85					4.96729e-08	6.69599e-08	0.008871	1	0
MRPS23	51649	broad.mit.edu	37	17	55917173	55917173	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr17:55917173C>A	ENST00000313608.8	-	5	589	c.544G>T	c.(544-546)Gac>Tac	p.D182Y		NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	182					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	p.D182Y(1)		endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					TTCGACTGGTCTGCAGGTGCC	0.483000													31	72					1.13719e-10	1.66498e-10	0.008361	1	0
NXF3	56000	broad.mit.edu	37	X	102334543	102334543	+	Silent	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chrX:102334543A>G	ENST00000395065.3	-	14	1289	c.1188T>C	c.(1186-1188)gaT>gaC	p.D396D	NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000425644.1_Silent_p.D68D	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	396	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.D396D(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TATTCCTGCTATCCTTGAAGA	0.512000													47	43					0	0	0.014410	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745899	77745899	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr2:77745899C>G	ENST00000409088.3	-	3	1510	c.1096G>C	c.(1096-1098)Gtc>Ctc	p.V366L	LRRTM4_ENST00000409911.1_Missense_Mutation_p.V367L|LRRTM4_ENST00000409093.1_Missense_Mutation_p.V366L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.V367L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.V366L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	366						integral to membrane		p.V366L(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCTGTGTTGACCACCTGGACT	0.468000													10	18					0	0	0.008291	0	0
LDHB	3945	broad.mit.edu	37	12	21807503	21807503	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr12:21807503C>A	ENST00000396076.1	-	2	435	c.103G>T	c.(103-105)Gcg>Tcg	p.A35S	LDHB_ENST00000350669.1_Missense_Mutation_p.A35S	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	35			A -> E (in LDHB deficiency).		glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	p.A35S(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	ATAGCACACGCCATACCAACT	0.428000													22	84					7.07758e-08	9.41626e-08	0.004656	1	0
TTC40	54777	broad.mit.edu	37	10	134627665	134627665	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr10:134627665T>A	ENST00000368586.5	-	54	7479	c.7379A>T	c.(7378-7380)cAc>cTc	p.H2460L	TTC40_ENST00000263170.5_Missense_Mutation_p.H621L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	621								p.H2460L(1)|p.H43L(1)|p.H621L(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCTGGGAAAGTGCTTGCTTCC	0.597000													8	28					0	0	0.006214	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449935	105449935	+	Silent	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chrX:105449935A>G	ENST00000337685.2	+	5	1295	c.510A>G	c.(508-510)caA>caG	p.Q170Q	MUM1L1_ENST00000372552.1_Silent_p.Q170Q|MUM1L1_ENST00000357175.2_Silent_p.Q170Q	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	170								p.Q170Q(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATAAATCACAAGCACCCACAA	0.423000													9	5					0	0	0.004482	0	0
SLC6A5	9152	broad.mit.edu	37	11	20629074	20629074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:20629074C>A	ENST00000525748.1	+	5	1134	c.861C>A	c.(859-861)taC>taA	p.Y287*		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	287					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.Y287*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCATATACTACAATGTGATTA	0.443000													66	170					1.1794e-34	2.02752e-34	0.014410	1	0
LAMC3	10319	broad.mit.edu	37	9	133942411	133942411	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr9:133942411C>A	ENST00000361069.4	+	14	2545	c.2412C>A	c.(2410-2412)ccC>ccA	p.P804P	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	804	Laminin EGF-like 7.				cell adhesion	basement membrane|membrane	structural molecule activity	p.P804P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTGGGCACCCCCAGCCCTGCC	0.642000													9	26					0.000274275	0.000311676	0.004482	1	0
SYNGR4	23546	broad.mit.edu	37	19	48876782	48876782	+	Silent	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:48876782C>T	ENST00000344846.2	+	3	352	c.102C>T	c.(100-102)tcC>tcT	p.S34S	SYNGR4_ENST00000601610.1_5'UTR|SYNGR4_ENST00000595322.1_5'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	34	MARVEL.					integral to membrane		p.S34S(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AGGTCTTCTCCCTGATCGTCT	0.577000													7	44					0	0	0.003080	0	0
E2F7	144455	broad.mit.edu	37	12	77419607	77419607	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr12:77419607C>A	ENST00000322886.7	-	12	2531	c.2296G>T	c.(2296-2298)Ggc>Tgc	p.G766C	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	766					cell cycle	transcription factor complex	DNA binding|identical protein binding	p.G766C(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GAAACCGGGCCCGGCATTGCA	0.562000													4	12					0.00909568	0.00967626	0.009096	1	0
DGKB	1607	broad.mit.edu	37	7	14217692	14217692	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:14217692C>A	ENST00000403951.2	-	24	2629	c.2210G>T	c.(2209-2211)gGc>gTc	p.G737V	DGKB_ENST00000402815.1_Missense_Mutation_p.G736V|DGKB_ENST00000407950.1_Missense_Mutation_p.G729V|DGKB_ENST00000406247.3_Missense_Mutation_p.G737V|DGKB_ENST00000399322.3_Missense_Mutation_p.G737V|DGKB_ENST00000444700.2_Missense_Mutation_p.G718V|DGKB_ENST00000258767.5_Missense_Mutation_p.G737V			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	737					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.G737V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CAGCCGCCGGCCAGCACTTTT	0.502000													14	53					6.31663e-08	8.3849e-08	0.003163	1	0
EIF3H	8667	broad.mit.edu	37	8	117671091	117671091	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr8:117671091A>T	ENST00000521861.1	-	3	441	c.418T>A	c.(418-420)Tac>Aac	p.Y140N	EIF3H_ENST00000276682.4_Missense_Mutation_p.Y154N	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	140	MPN.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.Y140N(1)		large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GCATGCTGGTAACTAAACTGA	0.398000													15	143					0	0	0.020292	0	0
ABCB1	5243	broad.mit.edu	37	7	87160611	87160611	+	Splice_Site	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:87160611T>A	ENST00000265724.3	-	22	3101	c.2685_splice	c.e22+1	p.K895_splice	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Splice_Site_p.K831_splice	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	895	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.K895M(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTGACTCACCTTCCCAGAACC	0.338000													33	109					0	0	0.010818	0	0
IPO9	55705	broad.mit.edu	37	1	201839917	201839917	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:201839917G>A	ENST00000361565.4	+	18	2409	c.2340G>A	c.(2338-2340)gaG>gaA	p.E780E		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	780					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	p.E780E(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						AACTCGGGGAGAATCTAGACC	0.592000													25	43					0	0	0.021523	0	0
ITPKC	80271	broad.mit.edu	37	19	41231331	41231331	+	Silent	SNP	T	T	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:41231331T>G	ENST00000263370.2	+	2	1275	c.1242T>G	c.(1240-1242)ctT>ctG	p.L414L		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	414						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.L414L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGGTCCAGCTTTCTGGACATG	0.532000													11	125					0	0	0.016723	0	0
ZNF716	441234	broad.mit.edu	37	7	57529506	57529506	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:57529506T>C	ENST00000420713.1	+	4	1451	c.1339T>C	c.(1339-1341)Ttc>Ctc	p.F447L		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.F447L(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						AGCCTTTACCTTCTCCTCAAC	0.378000													3	6					0	0	0.004672	0	0
SPINK14	408187	broad.mit.edu	37	5	147549350	147549350	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr5:147549350G>T	ENST00000356972.1	+	1	55	c.55G>T	c.(55-57)Gtg>Ttg	p.V19L	SPINK14_ENST00000562793.1_Missense_Mutation_p.V19L	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN	serine peptidase inhibitor, Kazal type 14 (putative)	19						extracellular region	serine-type endopeptidase inhibitor activity	p.V19L(1)		breast(1)|large_intestine(1)|lung(1)	3						GATACATTTGGTGTTATCTTC	0.378000													7	12					1.06961e-07	1.38911e-07	0.003080	1	0
ZNF773	374928	broad.mit.edu	37	19	58018366	58018366	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:58018366G>T	ENST00000282292.4	+	4	1043	c.903G>T	c.(901-903)agG>agT	p.R301S	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.R300S|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R301I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		CTGGAGTAAGGCCTTATGAGT	0.418000													39	84					6.48837e-15	9.9821e-15	0.010771	1	0
IBTK	25998	broad.mit.edu	37	6	82950159	82950159	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:82950159C>A	ENST00000306270.7	-	2	594	c.45G>T	c.(43-45)ctG>ctT	p.L15L	IBTK_ENST00000510291.1_Silent_p.L15L|IBTK_ENST00000503631.1_Silent_p.L15L	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	15					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	p.L15L(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AAGCATGCTTCAGGGATCGAC	0.408000													30	90					4.40665e-25	7.22401e-25	0.009535	1	0
EPHA7	2045	broad.mit.edu	37	6	94066623	94066623	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:94066623C>G	ENST00000369303.4	-	5	1320	c.1136G>C	c.(1135-1137)tGt>tCt	p.C379S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	379	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.C379S(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACAGGGAACACATTCGCCCTG	0.483000													12	27					0	0	0.010729	0	0
ATAD2	29028	broad.mit.edu	37	8	124384054	124384054	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr8:124384054C>A	ENST00000287394.5	-	4	499	c.392G>T	c.(391-393)cGg>cTg	p.R131L	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.R131L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CCTCAATGACCGAGTAACTGG	0.308000													21	68					1.28384e-07	1.65301e-07	0.012319	1	0
CRISP1	167	broad.mit.edu	37	6	49806162	49806162	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:49806162C>T	ENST00000335847.4	-	7	711	c.610G>A	c.(610-612)Gac>Aac	p.D204N	CRISP1_ENST00000505118.1_Missense_Mutation_p.D204N|CRISP1_ENST00000329411.5_Intron|CRISP1_ENST00000536021.1_Intron|CRISP1_ENST00000507853.1_Intron|CRISP1_ENST00000355791.2_Missense_Mutation_p.D204N	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	204					fusion of sperm to egg plasma membrane	extracellular space		p.D204N(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CAAAGTTTGTCTTCACAGTTA	0.363000													32	115					0	0	0.017118	0	0
CSMD3	114788	broad.mit.edu	37	8	113599348	113599348	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr8:113599348C>A	ENST00000297405.5	-	23	4076	c.3832G>T	c.(3832-3834)Gga>Tga	p.G1278*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G1278*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G1238*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G1174*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1278	CUB 7.					integral to membrane|plasma membrane		p.G1238*(1)|p.G1278*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATTGATTCCCTTTCCTGCT	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	131					1.49906e-05	1.8061e-05	0.020292	1	0
FCRL4	83417	broad.mit.edu	37	1	157556159	157556159	+	Missense_Mutation	SNP	C	C	T	rs142198646		TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:157556159C>T	ENST00000271532.1	-	6	1069	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	312	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.V312M(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CCTTCAGCCACGGAGCAGACA	0.592000													9	72					0	0	0.006214	0	0
DENND1A	57706	broad.mit.edu	37	9	126143842	126143842	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr9:126143842G>T	ENST00000373624.2	-	22	3100	c.2899C>A	c.(2899-2901)Cct>Act	p.P967T	DENND1A_ENST00000542603.1_Missense_Mutation_p.P752T|DENND1A_ENST00000394219.3_Missense_Mutation_p.P978T|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	967	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	p.P967T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GCCTGTTGAGGAGCAGAGGGC	0.652000													25	25					5.45024e-15	8.47188e-15	0.018920	1	0
LOC101927958	101927958	broad.mit.edu	37	2	239141692	239141692	+	RNA	SNP	T	T	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:239141692T>G	ENST00000456601.1	+	0	906																											AATACATATGTACTAAGAATT	0.313000													9	19					0	0	0.004482	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650756	232650756	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:232650756G>A	ENST00000366630.1	-	2	688	c.330C>T	c.(328-330)atC>atT	p.I110I	SIPA1L2_ENST00000262861.4_Silent_p.I110I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	110					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.I110I(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGACAGAAGTGATGCTTTCAT	0.512000													29	160					0	0	0.007291	0	0
SCN1A	6323	broad.mit.edu	37	2	166897828	166897828	+	Silent	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:166897828G>T	ENST00000423058.2	-	13	2345	c.2328C>A	c.(2326-2328)atC>atA	p.I776I	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Silent_p.I776I|SCN1A_ENST00000409050.1_Silent_p.I748I|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Silent_p.I765I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	776						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I765I(1)|p.I776I(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGACAATACAGATGGTGATGG	0.398000													22	87					1.55795e-14	2.38461e-14	0.012319	1	0
DDI1	414301	broad.mit.edu	37	11	103908544	103908544	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:103908544C>A	ENST00000302259.3	+	1	1237	c.994C>A	c.(994-996)Cta>Ata	p.L332I	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	332					proteolysis		aspartic-type endopeptidase activity	p.L332I(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCTTCTAGGCCTAGATATGCT	0.443000													27	56					1.17739e-12	1.7573e-12	0.005443	1	0
SEZ6L2	26470	broad.mit.edu	37	16	29906600	29906600	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr16:29906600C>T	ENST00000308713.5	-	5	1360	c.833G>A	c.(832-834)gGc>gAc	p.G278D	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G234D|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G208D|SEZ6L2_ENST00000346932.5_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	278	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.G278D(1)|p.G208D(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATCCTGAAGCCACCGCCCCT	0.532000													14	82					0	0	0.004990	0	0
TCEAL5	340543	broad.mit.edu	37	X	102529026	102529026	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chrX:102529026G>C	ENST00000372680.1	-	3	760	c.466C>G	c.(466-468)Cag>Gag	p.Q156E		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.Q156E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AGCTCCTCCTGAGCCCTTGAC	0.522000													59	33					0	0	0.014410	0	0
NOS1	4842	broad.mit.edu	37	12	117715775	117715775	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr12:117715775G>A	ENST00000317775.6	-	9	2338	c.1653C>T	c.(1651-1653)atC>atT	p.I551I	NOS1_ENST00000338101.4_Silent_p.I551I|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	551					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.I551I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGGGGTGCCTGATGGGAACTT	0.607000													26	55					0	0	0.021523	0	0
SMG5	23381	broad.mit.edu	37	1	156237303	156237303	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:156237303C>G	ENST00000361813.5	-	10	1219	c.1075G>C	c.(1075-1077)Gtc>Ctc	p.V359L	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	359					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	p.V359L(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CAGATGATGACCATTTGAAAG	0.527000													8	66					0	0	0.004482	0	0
CLPTM1	1209	broad.mit.edu	37	19	45477703	45477703	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:45477703A>T	ENST00000541297.2	+	4	740	c.275A>T	c.(274-276)cAt>cTt	p.H92L	CLPTM1_ENST00000337392.5_Missense_Mutation_p.H106L|CLPTM1_ENST00000546079.1_Missense_Mutation_p.H4L			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	106					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		p.H106L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CAGAACCTGCATGTGTACATC	0.562000													7	35					0	0	0.003080	0	0
CUBN	8029	broad.mit.edu	37	10	16870805	16870805	+	Splice_Site	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr10:16870805C>G	ENST00000377833.4	-	66	10828	c.10764_splice	c.e66+1	p.G3588_splice		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3588	CUB 27.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G3588A(1)|p.G3588V(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTACTCACGCCTCCGCAGTA	0.408000											OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	38					0	0	0.014323	0	0
WDHD1	11169	broad.mit.edu	37	14	55455817	55455817	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr14:55455817C>A	ENST00000360586.3	-	13	1520	c.1455G>T	c.(1453-1455)ttG>ttT	p.L485F	WDHD1_ENST00000359167.4_Intron|WDHD1_ENST00000421192.1_Missense_Mutation_p.L362F|WDHD1_ENST00000420358.2_Missense_Mutation_p.L362F	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	485						cytoplasm|nucleoplasm	DNA binding	p.L485F(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TTGTATAATTCAAAGTGTTTG	0.373000													36	98					3.75037e-06	4.5923e-06	0.005524	1	0
DLG2	1740	broad.mit.edu	37	11	83183791	83183791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:83183791C>A	ENST00000398309.2	-	18	2478	c.2008G>T	c.(2008-2010)Gag>Tag	p.E670*	DLG2_ENST00000426717.2_Nonsense_Mutation_p.E134*|DLG2_ENST00000543673.1_Nonsense_Mutation_p.E775*|DLG2_ENST00000376104.2_Nonsense_Mutation_p.E775*|DLG2_ENST00000376106.3_Nonsense_Mutation_p.E134*|DLG2_ENST00000537455.1_Nonsense_Mutation_p.E420*|DLG2_ENST00000524982.1_Nonsense_Mutation_p.E666*|DLG2_ENST00000330014.6_Nonsense_Mutation_p.E591*|DLG2_ENST00000280241.8_Nonsense_Mutation_p.E709*|DLG2_ENST00000532653.1_Nonsense_Mutation_p.E652*|DLG2_ENST00000404783.3_Nonsense_Mutation_p.E148*|DLG2_ENST00000531015.1_Nonsense_Mutation_p.E637*|DLG2_ENST00000418306.2_Nonsense_Mutation_p.E549*	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	670						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.E549*(1)|p.E670*(1)|p.E709*(1)|p.E775*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTAACAGGCTCATAGGAAAGA	0.438000													10	60					3.86212e-05	4.52592e-05	0.008291	1	0
APOBEC3D	140564	broad.mit.edu	37	22	39418930	39418930	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr22:39418930A>C	ENST00000216099.7	+	2	528	c.121A>C	c.(121-123)Ata>Cta	p.I41L	APOBEC3D_ENST00000427494.2_Missense_Mutation_p.I41L|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.I41L	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	41					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	p.I41L(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TGAAGTGAAAATAAAGAGGGG	0.512000													15	50					0	0	0.007413	0	0
DLL1	28514	broad.mit.edu	37	6	170597852	170597852	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:170597852G>T	ENST00000366756.3	-	3	710	c.377C>A	c.(376-378)gCt>gAt	p.A126D		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	126					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	p.A126D(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TGTGTGGAGAGCTTCAATAAT	0.468000													31	96					4.31634e-10	6.1957e-10	0.012213	1	0
PLXNB1	5364	broad.mit.edu	37	3	48462684	48462684	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr3:48462684C>G	ENST00000358536.4	-	8	2032	c.1763G>C	c.(1762-1764)tGc>tCc	p.C588S	PLXNB1_ENST00000358459.4_Missense_Mutation_p.C588S|PLXNB1_ENST00000296440.6_Missense_Mutation_p.C588S|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.C588S	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	588					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	p.C588S(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGGGAGGGGCACATCACACC	0.642000													18	42					0	0	0.010504	0	0
TYR	7299	broad.mit.edu	37	11	88911128	88911128	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:88911128C>A	ENST00000263321.5	+	1	509	c.7C>A	c.(7-9)Ctg>Atg	p.L3M	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	3					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.L3M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AAGAATGCTCCTGGCTGTTTT	0.488000													6	44					0.00198382	0.00218002	0.001984	1	0
CELSR1	9620	broad.mit.edu	37	22	46829346	46829346	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr22:46829346G>A	ENST00000262738.3	-	5	4554	c.4555C>T	c.(4555-4557)Ccc>Tcc	p.P1519S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1519	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	p.P1519S(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACACCACTGGGAACCTTCGGT	0.637000													3	7					0	0	0.004672	0	0
PRKCB	5579	broad.mit.edu	37	16	24046816	24046816	+	Silent	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr16:24046816C>T	ENST00000303531.7	+	5	629	c.477C>T	c.(475-477)cgC>cgT	p.R159R	PRKCB_ENST00000321728.7_Silent_p.R159R	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	159					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.R159R(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CGGAGCGCCGCGGCCGCATCT	0.622000													13	26					0	0	0.020292	0	0
HOXA5	3202	broad.mit.edu	37	7	27182779	27182779	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:27182779C>T	ENST00000222726.3	-	1	508	c.448G>A	c.(448-450)Gag>Aag	p.E150K	HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	150					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E150K(1)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GCGTCCTCCTCGGCTCCGGAC	0.716000													36	43					0	0	0.019004	0	0
GMDS	2762	broad.mit.edu	37	6	1961104	1961104	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:1961104C>A	ENST00000380815.4	-	5	711	c.442G>T	c.(442-444)Gtg>Ttg	p.V148L	GMDS_ENST00000530927.1_Missense_Mutation_p.V118L	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	148					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	p.V148L(1)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TAGAACTTCACAGAGTTGATA	0.493000													21	68					4.96729e-08	6.65262e-08	0.008871	1	0
SLC12A1	6557	broad.mit.edu	37	15	48512830	48512830	+	Splice_Site	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr15:48512830G>C	ENST00000396577.3	+	3	635		c.e3-1		SLC12A1_ENST00000380993.3_Splice_Site|SLC12A1_ENST00000561031.1_Splice_Site|SLC12A1_ENST00000330289.6_Splice_Site|SLC12A1_ENST00000558405.1_Splice_Site	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1						potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.?(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATAAAATGCAGAATGTGGCAG	0.378000													5	21					0	0	0.014758	0	0
HK2	3099	broad.mit.edu	37	2	75099464	75099464	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:75099464T>C	ENST00000290573.2	+	4	1013	c.413T>C	c.(412-414)aTg>aCg	p.M138T	HK2_ENST00000409174.1_Missense_Mutation_p.M110T	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	138	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.M138T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GCTAACTTCATGGATAAGCTA	0.488000													19	63					0	0	0.012319	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75552466	75552466	+	Silent	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr10:75552466A>T	ENST00000604729.1	+	10	2466	c.2169A>T	c.(2167-2169)ggA>ggT	p.G723G	ZSWIM8_ENST00000604524.1_Silent_p.G723G|ZSWIM8_ENST00000605216.1_Silent_p.G723G|ZSWIM8_ENST00000398706.2_Silent_p.G723G|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000603114.1_Silent_p.G690G					zinc finger, SWIM-type containing 8									p.G723G(2)|p.G103G(1)									CTGCAGTTGGAGAGGAGGATG	0.612000													20	33					0	0	0.008871	0	0
VAV3	10451	broad.mit.edu	37	1	108185290	108185290	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:108185290C>A	ENST00000370056.4	-	20	2139	c.1865G>T	c.(1864-1866)gGg>gTg	p.G622V	VAV3_ENST00000527011.1_Missense_Mutation_p.G622V|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000415432.2_Missense_Mutation_p.G62V|VAV3_ENST00000544443.1_Missense_Mutation_p.G26V	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	622	SH3 1.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.G622V(1)|p.G62V(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AACGGTATCCCCGGCCTGGAG	0.512000													4	45					2.27111e-07	2.89929e-07	0.013537	1	0
UBE3A	7337	broad.mit.edu	37	15	25615807	25615807	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr15:25615807G>A	ENST00000232165.3	-	6	2170	c.1514C>T	c.(1513-1515)aCt>aTt	p.T505I	UBE3A_ENST00000428984.2_Missense_Mutation_p.T485I|UBE3A_ENST00000397954.2_Missense_Mutation_p.T508I|UBE3A_ENST00000566215.1_Missense_Mutation_p.T485I|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.T485I	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	508	Interaction with HCV core protein.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.T508I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GTAGAGAACAGTGATTCTTCG	0.368000													17	97					0	0	0.004007	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149331	73149331	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr4:73149331C>A	ENST00000286657.4	-	22	3176	c.3140G>T	c.(3139-3141)tGt>tTt	p.C1047F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1047	PLAC.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.C1047F(1)		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)			GCAGGACTCACAACATAACTT	0.458000													27	63					6.32553e-13	9.4883e-13	0.004656	1	0
LAMB1	3912	broad.mit.edu	37	7	107615775	107615775	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:107615775G>C	ENST00000393561.1	-	9	1529	c.1345C>G	c.(1345-1347)Cag>Gag	p.Q449E	LAMB1_ENST00000393560.1_Missense_Mutation_p.Q425E|LAMB1_ENST00000222399.6_Missense_Mutation_p.Q425E			P07942	LAMB1_HUMAN	laminin, beta 1	425	Laminin EGF-like 3.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.Q425E(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCGACACTGGCCAGCAATG	0.408000													23	54					0	0	0.016522	0	0
CPS1	1373	broad.mit.edu	37	2	211507348	211507348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:211507348G>T	ENST00000233072.5	+	25	3296	c.3100G>T	c.(3100-3102)Gag>Tag	p.E1034*	CPS1_ENST00000430249.2_Nonsense_Mutation_p.E1040*|CPS1_ENST00000451903.2_Nonsense_Mutation_p.E583*|CPS1_ENST00000497121.1_3'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1034					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.E1034*(1)|p.E1040*(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GTACTTTGAAGAGTTGTCCTT	0.408000													10	51					7.48243e-07	9.39217e-07	0.006214	1	0
PACSIN3	29763	broad.mit.edu	37	11	47204066	47204066	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:47204066G>A	ENST00000539589.1	-	4	441	c.99C>T	c.(97-99)caC>caT	p.H33H	PACSIN3_ENST00000298838.6_Silent_p.H33H	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	33	FCH.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	p.H33H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CGCACAGCCGGTGCCCGTCCT	0.652000													30	41					0	0	0.015359	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50662598	50662598	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr22:50662598G>T	ENST00000439308.2	-	13	2734	c.2242C>A	c.(2242-2244)Ctg>Atg	p.L748M	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.L748M|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	748					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	p.L748M(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCTCCTCCAGGGACTTCAGC	0.622000													3	28					0.004672	0.00502366	0.004672	1	0
ZP4	57829	broad.mit.edu	37	1	238053782	238053782	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:238053782G>T	ENST00000366570.4	-	1	312	c.154C>A	c.(154-156)Cct>Act	p.P52T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	52					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	p.P52T(1)		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)			AGTACAGGAGGAGACGTTGCC	0.502000													8	36					2.17888e-05	2.56338e-05	0.006214	1	0
HS3ST4	9951	broad.mit.edu	37	16	26147509	26147509	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr16:26147509G>T	ENST00000331351.5	+	2	1703	c.1311G>T	c.(1309-1311)ttG>ttT	p.L437F	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	437					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.L437F(2)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCTTCAACTTGATGTTTTACC	0.473000													6	13					0.00307968	0.00337191	0.003080	1	0
ATP12A	479	broad.mit.edu	37	13	25264846	25264846	+	Silent	SNP	A	A	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr13:25264846A>C	ENST00000218548.6	+	7	1119	c.786A>C	c.(784-786)acA>acC	p.T262T	ATP12A_ENST00000381946.3_Silent_p.T262T	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	262					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.T262T(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCTATTCCACAACGTGTCTGG	0.552000													31	166					0	0	0.015359	0	0
GRM6	2916	broad.mit.edu	37	5	178413537	178413537	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr5:178413537G>T	ENST00000231188.5	-	8	1896	c.1718C>A	c.(1717-1719)cCc>cAc	p.P573H	GRM6_ENST00000517717.1_Missense_Mutation_p.P573H|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	573					detection of visible light|visual perception	integral to plasma membrane		p.P573H(2)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CACAGGTGTGGGGCGGCAGCC	0.706000													8	14					1.06961e-07	1.38911e-07	0.003080	1	0
GPR161	23432	broad.mit.edu	37	1	168055036	168055036	+	Splice_Site	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:168055036T>C	ENST00000367838.1	-	8	1638		c.e8-2		GPR161_ENST00000546300.1_Splice_Site|GPR161_ENST00000539777.1_Splice_Site|GPR161_ENST00000271357.5_Splice_Site|GPR161_ENST00000367836.1_Splice_Site|GPR161_ENST00000537209.1_Splice_Site|GPR161_ENST00000367835.1_Splice_Site|GPR161_ENST00000361697.2_Splice_Site	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161						multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.?(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TGGCAGCTTCTGAGGGAGAAG	0.552000													11	10					0	0	0.016723	0	0
SETBP1	26040	broad.mit.edu	37	18	42531409	42531409	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr18:42531409G>T	ENST00000282030.5	+	4	2400	c.2104G>T	c.(2104-2106)Gca>Tca	p.A702S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	702						nucleus	DNA binding	p.A702S(1)|p.A648S(1)		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)		CAGCCCTGGGGCAGCAGCCAT	0.517000									Schinzel-Giedion syndrome				11	42					0.000673444	0.000753855	0.008291	1	0
ALG13	79868	broad.mit.edu	37	X	110980041	110980041	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chrX:110980041A>G	ENST00000394780.3	+	23	2641	c.2629A>G	c.(2629-2631)Act>Gct	p.T877A	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.T773A	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	877					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	p.T278A(1)|p.T877A(1)|p.T773A(1)		endometrium(2)|lung(10)|skin(1)	13						TATTAGTACCACTTCAGTTTC	0.463000													70	63					0	0	0.014410	0	0
KDM3B	51780	broad.mit.edu	37	5	137759901	137759901	+	Silent	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr5:137759901G>T	ENST00000314358.5	+	16	4310	c.4110G>T	c.(4108-4110)gtG>gtT	p.V1370V	KDM3B_ENST00000394866.1_Silent_p.V1026V|KDM3B_ENST00000542866.1_Silent_p.V402V	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1370					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.V1370V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGGAGATGGTGATGGGGTTAA	0.468000													31	52					1.36615e-20	2.20346e-20	0.013726	1	0
LTBP2	4053	broad.mit.edu	37	14	74976011	74976011	+	Silent	SNP	C	C	A	rs61729544	byFrequency	TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr14:74976011C>A	ENST00000261978.4	-	22	3719	c.3333G>T	c.(3331-3333)acG>acT	p.T1111T	LTBP2_ENST00000556690.1_Silent_p.T1111T	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1111	Cys-rich.|EGF-like 10; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.T1111T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGAGCCAGCCGTGTTGGTGC	0.642000													14	66					3.27435e-08	4.44482e-08	0.020292	1	0
STK11	6794	broad.mit.edu	37	19	1218447	1218447	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:1218447A>T	ENST00000326873.7	+	2	1495	c.322A>T	c.(322-324)Aaa>Taa	p.K108*	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	108	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.K108*(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTACGGCACAAAAATGTCAT	0.547000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			50	64					0	0	0.014410	0	0
HK3	3101	broad.mit.edu	37	5	176314670	176314670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr5:176314670C>A	ENST00000292432.5	-	11	1473	c.1382G>T	c.(1381-1383)gGt>gTt	p.G461V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	461	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.G461V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGGCCACCACCATCCACAGA	0.637000													12	15					2.27111e-07	2.89929e-07	0.013537	1	0
MAP2	4133	broad.mit.edu	37	2	210518007	210518007	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:210518007G>T	ENST00000360351.4	+	4	619	c.113G>T	c.(112-114)gGg>gTg	p.G38V	MAP2_ENST00000361559.4_Missense_Mutation_p.G38V|MAP2_ENST00000392194.1_Missense_Mutation_p.G38V|MAP2_ENST00000447185.1_Missense_Mutation_p.G38V|MAP2_ENST00000199940.6_Missense_Mutation_p.G38V	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	38					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	p.G38V(3)|p.G38E(1)		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)	GGCGGAGCAGGGGAAGGACTT	0.532000													12	25					0.00010058	0.000115168	0.013537	1	0
UBR2	23304	broad.mit.edu	37	6	42612262	42612262	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:42612262A>G	ENST00000372899.1	+	20	2530	c.2272A>G	c.(2272-2274)Ata>Gta	p.I758V	UBR2_ENST00000372883.3_Missense_Mutation_p.I262V|UBR2_ENST00000372901.1_Missense_Mutation_p.I758V	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	758					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.I758V(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATACCTCATTATAATGCTTGT	0.313000													19	48					0	0	0.008871	0	0
OR1A2	26189	broad.mit.edu	37	17	3101509	3101509	+	Silent	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr17:3101509C>T	ENST00000381951.1	+	1	697	c.697C>T	c.(697-699)Cta>Tta	p.L233L		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L233L(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TACCAAGAGTCTATTCAAAGC	0.453000													52	82					0	0	0.014410	0	0
DEFA4	1669	broad.mit.edu	37	8	6793627	6793627	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr8:6793627A>T	ENST00000297435.2	-	3	333	c.209T>A	c.(208-210)gTa>gAa	p.V70E		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	70					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.V70E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CCGGCAGAATACTAATCTGCA	0.507000													16	34					0	0	0.004990	0	0
XIRP1	165904	broad.mit.edu	37	3	39229101	39229101	+	Silent	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr3:39229101T>A	ENST00000340369.3	-	2	2064	c.1836A>T	c.(1834-1836)tcA>tcT	p.S612S	XIRP1_ENST00000396251.1_Silent_p.S612S|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	612	Interaction with CTNNB1 (By similarity).						actin binding	p.S612S(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGTGACCTCTGACCCCTGCT	0.617000													17	29					0	0	0.006122	0	0
CACNG7	59284	broad.mit.edu	37	19	54417828	54417828	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:54417828G>T	ENST00000391767.1	+	3	483	c.271G>T	c.(271-273)Gag>Tag	p.E91*	CACNG7_ENST00000391766.1_Nonsense_Mutation_p.E91*|CACNG7_ENST00000222212.2_Nonsense_Mutation_p.E91*|CACNG7_ENST00000468076.1_Intron			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	91					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E91*(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GGAAAACACGGAGAATATTCT	0.552000													11	24					2.80697e-09	3.93501e-09	0.010729	1	0
MYO1G	64005	broad.mit.edu	37	7	45011773	45011773	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:45011773T>G	ENST00000258787.7	-	6	806	c.670A>C	c.(670-672)Aac>Cac	p.N224H		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	224	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.N224H(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						ACAGCAGGGTTTCTCTCCAAG	0.527000													31	91					0	0	0.017118	0	0
CLEC2D	29121	broad.mit.edu	37	12	9840645	9840645	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr12:9840645A>G	ENST00000261340.7	+	3	342	c.320A>G	c.(319-321)gAt>gGt	p.D107G	CLEC2D_ENST00000545918.1_Missense_Mutation_p.D70G|CLEC2D_ENST00000290855.6_Missense_Mutation_p.D107G|CLEC2D_ENST00000261339.6_Missense_Mutation_p.D70G|CLEC2D_ENST00000543300.1_Missense_Mutation_p.D107G	NM_001004419.4	NP_001004419.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	107	C-type lectin.				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity	p.D107G(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						GACTCACAAGATGCTGATCTT	0.413000													22	49					0	0	0.010504	0	0
PDE1C	5137	broad.mit.edu	37	7	31890287	31890287	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:31890287G>A	ENST00000396184.3	-	9	1023	c.819C>T	c.(817-819)acC>acT	p.T273T	PDE1C_ENST00000321453.7_Silent_p.T273T|PDE1C_ENST00000396191.1_Silent_p.T273T|PDE1C_ENST00000396193.1_Silent_p.T333T|PDE1C_ENST00000396182.2_Silent_p.T273T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	273	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.T273T(2)|p.T333T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGGTGGTTCCGGTATGCTCGT	0.448000													19	66					0	0	0.014323	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039105	242039105	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:242039105A>C	ENST00000391980.2	-	2	284	c.226T>G	c.(226-228)Tgc>Ggc	p.C76G	MTERFD2_ENST00000495694.1_Missense_Mutation_p.C76G|MTERFD2_ENST00000407095.3_Missense_Mutation_p.C76G|MTERFD2_ENST00000406593.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	76								p.C76G(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TCAAGGAGGCACTGAACAAGA	0.502000													12	64					0	0	0.010729	0	0
BACH2	60468	broad.mit.edu	37	6	90642501	90642501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:90642501G>A	ENST00000257749.4	-	9	2859	c.2152C>T	c.(2152-2154)Cag>Tag	p.Q718*	BACH2_ENST00000537989.1_Nonsense_Mutation_p.Q718*|BACH2_ENST00000343122.3_Nonsense_Mutation_p.Q718*	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	718						nucleus	protein dimerization activity|sequence-specific DNA binding	p.Q718*(2)		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)		TCGGGGCTCTGGATGTCTCGG	0.557000													5	25					0	0	0.001168	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743035	26743035	+	Missense_Mutation	SNP	C	C	A	rs142065702		TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:26743035C>A	ENST00000396005.3	-	1	536	c.227G>T	c.(226-228)cGc>cTc	p.R76L	SLC5A12_ENST00000280467.6_Missense_Mutation_p.R76L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	76					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.R76L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGCCCCAAAGCGGTAGACTTC	0.512000													10	50					0.000442599	0.000499172	0.006214	1	0
EPS15L1	58513	broad.mit.edu	37	19	16513280	16513280	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:16513280G>A	ENST00000602009.1	-	10	2076	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F	EPS15L1_ENST00000535753.2_Missense_Mutation_p.S548F|EPS15L1_ENST00000594975.1_Missense_Mutation_p.S548F|EPS15L1_ENST00000248070.6_Missense_Mutation_p.S548F|EPS15L1_ENST00000597937.1_Missense_Mutation_p.S548F|EPS15L1_ENST00000455140.2_Missense_Mutation_p.S548F			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	548					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	p.S548F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ATGCAGCTGGGAAAGTTTGCT	0.522000													7	45					0	0	0.003080	0	0
CHD7	55636	broad.mit.edu	37	8	61735118	61735118	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr8:61735118C>G	ENST00000423902.2	+	12	3493	c.3014C>G	c.(3013-3015)aCa>aGa	p.T1005R	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.T1005R	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1005	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.T1005R(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGTCCATTACATTTCTCTAT	0.388000													49	101					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25312955	25312955	+	RNA	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr15:25312955A>T	ENST00000549804.2	+	0	538				SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA																							TGAGTCCCCCATAAAAACATT	0.493000													37	72					0	0	0.006230	0	0
FAM71B	153745	broad.mit.edu	37	5	156590418	156590418	+	Silent	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr5:156590418C>T	ENST00000302938.4	-	2	953	c.858G>A	c.(856-858)ggG>ggA	p.G286G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	286	Ala-rich.					nucleus		p.G286G(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCATTGCTGCCCCTGCTATTG	0.567000													39	47					0	0	0.007835	0	0
SIL1	64374	broad.mit.edu	37	5	138463544	138463544	+	Splice_Site	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr5:138463544T>A	ENST00000394817.2	-	2	130		c.e2-2		SIL1_ENST00000265195.5_Splice_Site|SIL1_ENST00000509534.1_Splice_Site	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor						intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTCAGGGACCTGCAGGTGCAA	0.547000									Marinesco-Sjgren syndrome				4	6					0	0	0.014758	0	0
REPIN1	29803	broad.mit.edu	37	7	150069234	150069234	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:150069234C>T	ENST00000397281.2	+	4	1393	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	REPIN1_ENST00000425389.2_Missense_Mutation_p.R302W|REPIN1_ENST00000444957.1_Missense_Mutation_p.R302W|REPIN1_ENST00000489432.2_Missense_Mutation_p.R359W|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000540729.1_Missense_Mutation_p.R302W|RP4-584D14.5_ENST00000488310.1_RNA	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	302					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	p.R302W(1)|p.R359W(1)		cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCGCCGCTTCCGGCACAAACC	0.672000													3	5					0	0	0.004672	0	0
OR1S2	219958	broad.mit.edu	37	11	57971562	57971562	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:57971562G>T	ENST00000302592.6	-	1	91	c.92C>A	c.(91-93)tCc>tAc	p.S31Y		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S31Y(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGCCTGGTTGGAGAGTCCCAG	0.443000													39	68					1.47244e-24	2.40072e-24	0.006230	1	0
NEK3	4752	broad.mit.edu	37	13	52728041	52728041	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr13:52728041G>T	ENST00000452082.2	-	3	1591	c.361C>A	c.(361-363)Cct>Act	p.P121T	NEK3_ENST00000378101.2_Missense_Mutation_p.P100T|NEK3_ENST00000400357.2_Missense_Mutation_p.P100T|NEK3_ENST00000339406.3_Missense_Mutation_p.P100T			P51956	NEK3_HUMAN	NIMA-related kinase 3	100	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P100T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		ATGTCTTCAGGAAATAACTTT	0.318000													28	74					5.61819e-17	8.87082e-17	0.005443	1	0
CWH43	80157	broad.mit.edu	37	4	49030646	49030646	+	Splice_Site	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr4:49030646G>T	ENST00000226432.4	+	10	1450	c.1266_splice	c.e10-1	p.A423_splice	CWH43_ENST00000513409.1_Splice_Site_p.A396_splice	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	423					GPI anchor biosynthetic process	integral to membrane		p.A423S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AATTCCTCAGGCACCAACCAA	0.438000													10	20					4.36969e-10	6.24242e-10	0.016723	1	0
SYNE1	23345	broad.mit.edu	37	6	152792795	152792795	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:152792795C>A	ENST00000367255.5	-	16	2170	c.1569G>T	c.(1567-1569)ctG>ctT	p.L523L	SYNE1_ENST00000265368.4_Silent_p.L523L|SYNE1_ENST00000466159.2_Silent_p.L523L|SYNE1_ENST00000423061.1_Silent_p.L530L|SYNE1_ENST00000413186.2_Silent_p.L523L|SYNE1_ENST00000341594.5_Silent_p.L530L|SYNE1_ENST00000448038.1_Silent_p.L530L|SYNE1_ENST00000495090.2_Silent_p.L90L|SYNE1_ENST00000367253.4_Silent_p.L523L|SYNE1_ENST00000367248.3_Silent_p.L513L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	523					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	p.L523L(2)|p.L530L(1)		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)		TCCAAGACTTCAGCTTTGACT	0.438000										HNSCC(10;0.0054)			33	102					1.22384e-17	1.9426e-17	0.013726	1	0
PVRL4	81607	broad.mit.edu	37	1	161043035	161043035	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:161043035T>A	ENST00000368012.3	-	8	1590	c.1288A>T	c.(1288-1290)Aac>Tac	p.N430Y	PVRL4_ENST00000486694.1_Intron|PVRL4_ENST00000453926.2_Intron	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	430					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		p.N430Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CAGCTACTGTTGTCCTTGAGA	0.652000													8	49					0	0	0.006214	0	0
TH	7054	broad.mit.edu	37	11	2185528	2185528	+	Missense_Mutation	SNP	G	G	T	rs78779683	by1000genomes	TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:2185528G>T	ENST00000381178.1	-	14	1540	c.1522C>A	c.(1522-1524)Cgc>Agc	p.R508S	TH_ENST00000333684.5_Missense_Mutation_p.R387S|TH_ENST00000352909.3_Missense_Mutation_p.R477S|TH_ENST00000381175.1_Missense_Mutation_p.R504S	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	508					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	p.R508S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TCCAGGGAGCGCCGCACGGCC	0.672000													7	24					8.12818e-05	9.37867e-05	0.001984	1	0
KIAA1407	57577	broad.mit.edu	37	3	113761558	113761558	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr3:113761558T>C	ENST00000295878.3	-	4	553	c.407A>G	c.(406-408)aAg>aGg	p.K136R	KIAA1407_ENST00000545063.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	136								p.K136R(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ACCATCAAACTTGTCATATTT	0.328000													31	35					0	0	0.012213	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43628678	43628678	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr9:43628678C>A	ENST00000332857.6	-	3	292	c.264G>T	c.(262-264)ccG>ccT	p.P88P	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.P88P(1)									CCAGGCCTCTCGGGCACTCTC	0.587000													16	45					2.35188e-11	3.45865e-11	0.006122	1	0
POLR1D	51082	broad.mit.edu	37	13	28239978	28239978	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr13:28239978A>T	ENST00000399697.3	+	3	375	c.257A>T	c.(256-258)cAc>cTc	p.H86L	POLR1D_ENST00000465887.1_3'UTR	NM_001206559.1|NM_152705.2	NP_001193488.1|NP_689918.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa	0					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	p.H86L(1)		endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		CCGAAGAAACACAGAAGCCAT	0.532000													13	32					0	0	0.013537	0	0
COL14A1	7373	broad.mit.edu	37	8	121215955	121215955	+	Silent	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr8:121215955A>G	ENST00000297848.3	+	9	1155	c.885A>G	c.(883-885)aaA>aaG	p.K295K	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Silent_p.K295K|COL14A1_ENST00000309791.4_Silent_p.K295K|COL14A1_ENST00000247781.3_Silent_p.K200K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	295	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.K295K(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGGGGTGAAAAACGCGGATG	0.493000													3	40					0	0	0.004672	0	0
RNF17	56163	broad.mit.edu	37	13	25353824	25353824	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr13:25353824A>G	ENST00000255324.5	+	5	501	c.449A>G	c.(448-450)gAa>gGa	p.E150G	RNF17_ENST00000381921.1_Missense_Mutation_p.E150G|RNF17_ENST00000255325.5_Missense_Mutation_p.E150G|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	150					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.E150G(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTGCAGAAGAAATTGATGAA	0.323000													24	53					0	0	0.021523	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188691	70188691	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:70188691C>A	ENST00000320256.4	-	1	706	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	44					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	p.G44W(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						ATGACTTGCCCGGCCTTGGGC	0.627000													19	28					1.00905e-13	1.52886e-13	0.008871	1	0
OR5L2	26338	broad.mit.edu	37	11	55595317	55595317	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:55595317G>A	ENST00000378397.1	+	1	623	c.623G>A	c.(622-624)aGt>aAt	p.S208N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S208N(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTGAATGAGAGTGTTACCATC	0.478000										HNSCC(27;0.073)			29	124					0	0	0.005443	0	0
FAM135B	51059	broad.mit.edu	37	8	139189617	139189617	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr8:139189617A>G	ENST00000395297.1	-	11	1246	c.1076T>C	c.(1075-1077)cTt>cCt	p.L359P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	359								p.L359P(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGACTGCAAGTTTTTGGTG	0.418000										HNSCC(54;0.14)			9	37					0	0	0.010729	0	0
SAMD10	140700	broad.mit.edu	37	20	62607069	62607069	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr20:62607069G>A	ENST00000369886.3	-	4	736	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	188								p.R188W(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGCAGGCTCCGCCCCTCCTCA	0.672000													22	61					0	0	0.021523	0	0
GTSE1	51512	broad.mit.edu	37	22	46712201	46712201	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr22:46712201C>G	ENST00000454366.1	+	7	1536	c.1324C>G	c.(1324-1326)Caa>Gaa	p.Q442E		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	423					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.Q442E(1)|p.Q423E(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGAATCTTCTCAATTGAATAA	0.493000													30	102					0	0	0.008361	0	0
SCN3A	6328	broad.mit.edu	37	2	165953852	165953852	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:165953852G>C	ENST00000360093.3	-	23	4640	c.4149C>G	c.(4147-4149)gaC>gaG	p.D1383E	SCN3A_ENST00000409101.3_Missense_Mutation_p.D1334E|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1383E	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1383						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D1334E(1)|p.D1383E(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GAGCCTGACAGTCACTCAAAT	0.433000													18	55					0	0	0.007413	0	0
DCAF13	25879	broad.mit.edu	37	8	104433228	104433228	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr8:104433228G>T	ENST00000297579.5	+	3	1029	c.752G>T	c.(751-753)cGg>cTg	p.R251L	DCAF13_ENST00000521971.1_Intron|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000519682.1_Missense_Mutation_p.R95L	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	99					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		p.R251L(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTAACTCAGCGGAATTGTATC	0.348000													16	140					2.4624e-09	3.46816e-09	0.008871	1	0
FOXP2	93986	broad.mit.edu	37	7	114329913	114329913	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:114329913A>T	ENST00000408937.3	+	18	2529	c.2155A>T	c.(2155-2157)Aat>Tat	p.N719Y	FOXP2_ENST00000393489.3_Missense_Mutation_p.N602Y|FOXP2_ENST00000393494.2_Missense_Mutation_p.N694Y|FOXP2_ENST00000393498.2_Missense_Mutation_p.N673Y|FOXP2_ENST00000403559.4_Missense_Mutation_p.N711Y|FOXP2_ENST00000393491.3_Missense_Mutation_p.N509Y|FOXP2_ENST00000350908.4_Missense_Mutation_p.N694Y	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	694					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.N719Y(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GACAACAGCTAATCACAGTCC	0.433000													33	80					0	0	0.021022	0	0
MERTK	10461	broad.mit.edu	37	2	112786012	112786012	+	Silent	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:112786012C>G	ENST00000295408.4	+	19	2828	c.2571C>G	c.(2569-2571)ctC>ctG	p.L857L	MERTK_ENST00000409780.1_Silent_p.L681L|MERTK_ENST00000421804.2_Silent_p.L857L			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	857	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L857L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TAGAAAAACTCTTAGAAAGTT	0.478000													27	48					0	0	0.021523	0	0
NTN1	9423	broad.mit.edu	37	17	9086271	9086271	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr17:9086271G>T	ENST00000173229.2	+	5	1503	c.1396G>T	c.(1396-1398)Gtg>Ttg	p.V466L	NTN1_ENST00000538852.1_Missense_Mutation_p.V466L|NTN1_ENST00000546090.1_Missense_Mutation_p.V466L	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	466					apoptosis|axon guidance		protein binding	p.V466L(1)	NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						AGCCAGCAGCGTGGAGGAGCC	0.582000													29	67					8.53417e-09	1.17984e-08	0.013726	1	0
NPAP1	23742	broad.mit.edu	37	15	24924390	24924390	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr15:24924390C>A	ENST00000329468.2	+	1	3850	c.3376C>A	c.(3376-3378)Cac>Aac	p.H1126N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.H1126N(1)									CATCCTGCAGCACACATGGAC	0.478000													33	88					4.11147e-13	6.1982e-13	0.017118	1	0
MEFV	4210	broad.mit.edu	37	16	3304362	3304362	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr16:3304362C>T	ENST00000219596.1	-	2	745	c.706G>A	c.(706-708)Gga>Aga	p.G236R	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	236					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.G236R(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CGCATCTTTCCCGAGGGCAGG	0.627000													27	67					0	0	0.004656	0	0
ZNF622	90441	broad.mit.edu	37	5	16451832	16451832	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr5:16451832C>A	ENST00000308683.2	-	6	1494	c.1368G>T	c.(1366-1368)atG>atT	p.M456I		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	456						cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.M456I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTGTCTTCAGCATCCATTTTG	0.463000													34	67					7.72975e-29	1.29549e-28	0.013726	1	0
CCDC85A	114800	broad.mit.edu	37	2	56611409	56611409	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:56611409G>T	ENST00000407595.2	+	6	2083	c.1581G>T	c.(1579-1581)tgG>tgT	p.W527C	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	527								p.W527C(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGGTTGTGTGGAGGAAACTTG	0.398000													14	36					1.15088e-07	1.4882e-07	0.004007	1	0
MUC3A	4584	broad.mit.edu	37	7	100549819	100549819	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:100549819T>A	ENST00000379458.4	+	2	400	c.400T>A	c.(400-402)Ttt>Att	p.134_134insI	MUC3A_ENST00000483366.1_3'UTR					mucin 3A, cell surface associated									p.F134I(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCCAACGAGCTTTATAATCAC	0.552000													13	78					0	0	0.020292	0	0
ASPM	259266	broad.mit.edu	37	1	197071597	197071597	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:197071597T>G	ENST00000367409.4	-	18	7040	c.6784A>C	c.(6784-6786)Atg>Ctg	p.M2262L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2262	IQ 20.|IQ 21.				mitosis	cytoplasm|nucleus	calmodulin binding	p.M2262L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTATATGCATCATTTTTAAA	0.333000													13	187					0	0	0.013537	0	0
SLC13A1	6561	broad.mit.edu	37	7	122768927	122768927	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:122768927C>T	ENST00000194130.2	-	10	1144	c.1105G>A	c.(1105-1107)Gtt>Att	p.V369I	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	369						integral to membrane|plasma membrane	sodium:sulfate symporter activity	p.V369I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CAACCAGGAACAAATCCGGGG	0.433000													9	33					0	0	0.008291	0	0
GLG1	2734	broad.mit.edu	37	16	74525010	74525010	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr16:74525010C>A	ENST00000422840.2	-	8	1337	c.1338G>T	c.(1336-1338)ggG>ggT	p.G446G	GLG1_ENST00000447066.2_Silent_p.G435G|GLG1_ENST00000205061.5_Silent_p.G446G	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	446						Golgi membrane|integral to membrane	receptor binding	p.G446G(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTTCAATCTCCCCCCGACAGC	0.512000													10	74					2.17888e-05	2.56338e-05	0.006214	1	0
FAM184A	79632	broad.mit.edu	37	6	119301415	119301415	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:119301415G>A	ENST00000338891.7	-	10	2632	c.2189C>T	c.(2188-2190)aCg>aTg	p.T730M	FAM184A_ENST00000521531.1_Missense_Mutation_p.T730M|FAM184A_ENST00000352896.5_Missense_Mutation_p.T610M|FAM184A_ENST00000368475.4_Missense_Mutation_p.T610M|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	730								p.T730M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AAGCTCTTGCGTAAGCCGCTG	0.423000													8	59					0	0	0.006214	0	0
TSSC2	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002																											AGCTTCACAGATCCACCGCTG	0.587000													3	14					0	0	0.004672	0	0
SPATA8	145946	broad.mit.edu	37	15	97327389	97327389	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr15:97327389G>A	ENST00000328504.3	+	2	363	c.96G>A	c.(94-96)tcG>tcA	p.S32S	SPATA8_ENST00000558553.1_5'UTR	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	32								p.S32S(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GCAGAACCTCGTCGCGACATT	0.572000													7	46					0	0	0.001984	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485263	97485263	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr13:97485263G>T	ENST00000376705.2	+	2	1251	c.1227G>T	c.(1225-1227)gaG>gaT	p.E409D		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	409						integral to membrane	sulfotransferase activity	p.E409D(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGCTTTACGAGTATGCAAAAG	0.572000													10	35					4.68919e-08	6.33674e-08	0.008291	1	0
HIST1H4K	8362	broad.mit.edu	37	6	27799270	27799270	+	Silent	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:27799270G>T	ENST00000357549.2	-	1	35	c.36C>A	c.(34-36)ggC>ggA	p.G12G		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	12					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.G12G(1)		breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						CGCCGCCTTTGCCAAGACCCT	0.632000													4	43					0.00198382	0.00218002	0.001984	1	0
BMP4	652	broad.mit.edu	37	14	54416867	54416867	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr14:54416867T>A	ENST00000245451.4	-	4	1503	c.1110A>T	c.(1108-1110)aaA>aaT	p.K370N	BMP4_ENST00000558984.1_Missense_Mutation_p.K370N|BMP4_ENST00000417573.1_Missense_Mutation_p.K370N|BMP4_ENST00000559087.1_Missense_Mutation_p.K370N	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	370					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	p.K370N(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						CACAACAGGCTTTGGGGATAC	0.502000													19	87					0	0	0.010504	0	0
CPS1	1373	broad.mit.edu	37	2	211454912	211454912	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:211454912C>A	ENST00000233072.5	+	8	990	c.794C>A	c.(793-795)cCg>cAg	p.P265Q	CPS1_ENST00000430249.2_Missense_Mutation_p.P271Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	265	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.P271Q(1)|p.P265Q(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCGGGAGGACCGGGGAACCCA	0.498000													91	202					7.47877e-49	1.28944e-48	0.014410	1	0
MUC16	94025	broad.mit.edu	37	19	8993385	8993385	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:8993385G>A	ENST00000397910.4	-	66	41907	c.41704C>T	c.(41704-41706)Ctc>Ttc	p.L13902F	MUC16_ENST00000380951.5_Missense_Mutation_p.L543F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13905	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L13902F(1)		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						TTGACATAGAGACTGTCCCTG	0.562000													37	76					0	0	0.019004	0	0
CEP112	201134	broad.mit.edu	37	17	64092444	64092444	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr17:64092444C>A	ENST00000392769.2	-	8	911	c.693G>T	c.(691-693)atG>atT	p.M231I	CEP112_ENST00000535342.2_Missense_Mutation_p.M231I|CEP112_ENST00000537949.1_Intron	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	231						centrosome		p.M231I(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						ATTTCGGTGTCATCTGCTAAA	0.378000													25	77					2.79863e-10	4.03649e-10	0.004656	1	0
RFX1	5989	broad.mit.edu	37	19	14083892	14083892	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:14083892G>A	ENST00000254325.4	-	9	1211	c.977C>T	c.(976-978)aCg>aTg	p.T326M		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	326					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.T326M(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GGTGCTTGCCGTCTGCGTGTA	0.662000													7	8					0	0	0.004482	0	0
VSTM4	196740	broad.mit.edu	37	10	50285321	50285321	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr10:50285321G>C	ENST00000332853.3	-	4	600	c.577C>G	c.(577-579)Ctg>Gtg	p.L193V		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	193						integral to membrane|plasma membrane		p.L193V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						ATGAAGAGCAGAATGCTGAGG	0.532000													13	23					0	0	0.006122	0	0
TRPM8	79054	broad.mit.edu	37	2	234878403	234878403	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:234878403T>A	ENST00000324695.4	+	16	2130	c.2090T>A	c.(2089-2091)cTg>cAg	p.L697Q	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	697						integral to membrane		p.L697Q(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AAGATTATCCTGTGTCTGTTT	0.423000													49	119					0	0	0.014410	0	0
NGEF	25791	broad.mit.edu	37	2	233745922	233745922	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:233745922G>C	ENST00000264051.3	-	14	2154	c.1876C>G	c.(1876-1878)Cag>Gag	p.Q626E	NGEF_ENST00000373552.4_Missense_Mutation_p.Q534E|NGEF_ENST00000539537.1_Missense_Mutation_p.Q349E	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	626	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.Q626E(2)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TCTGGCTGCTGAGCCACGTAT	0.667000													20	40					0	0	0.008871	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672991	141672991	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:141672991G>T	ENST00000547270.1	-	1	582	c.499C>A	c.(499-501)Cac>Aac	p.H167N		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	167					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.H167N(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					ACTGTGAAGTGAGGTCTGCTA	0.418000													19	34					4.35082e-09	6.07091e-09	0.010504	1	0
OR8I2	120586	broad.mit.edu	37	11	55860877	55860877	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:55860877C>A	ENST00000302124.2	+	1	125	c.94C>A	c.(94-96)Ctc>Atc	p.L32I	OR8I2_ENST00000560768.1_Missense_Mutation_p.L32I			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L32I(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTTGATGTTTCTCTTCATTTA	0.403000													41	174					1.30091e-30	2.19254e-30	0.006999	1	0
TP53	7157	broad.mit.edu	37	17	7574017	7574017	+	Missense_Mutation	SNP	C	C	A	rs121912664		TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr17:7574017C>A	ENST00000269305.4	-	10	1199	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337L|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATCTCGAAGCGCTCACGCCC	0.527000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	11					2.17888e-05	2.56338e-05	0.006214	1	0
NFIA	4774	broad.mit.edu	37	1	61554015	61554015	+	Silent	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:61554015A>T	ENST00000403491.3	+	2	706	c.222A>T	c.(220-222)cgA>cgT	p.R74R	NFIA_ENST00000479364.1_Intron|NFIA_ENST00000485903.2_Silent_p.R74R|NFIA_ENST00000371184.2_Silent_p.R74R|NFIA_ENST00000371185.2_Silent_p.R74R|NFIA_ENST00000371187.3_Silent_p.R74R|NFIA_ENST00000371189.4_Silent_p.R119R|NFIA_ENST00000371191.1_Silent_p.R97R|NFIA_ENST00000407417.3_Silent_p.R66R	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	74					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R119R(1)|p.R74R(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GGGCATCTCGACTTCTGGCAA	0.423000													16	63					0	0	0.004007	0	0
FBN1	2200	broad.mit.edu	37	15	48703402	48703402	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr15:48703402C>T	ENST00000316623.5	-	66	8856	c.8401G>A	c.(8401-8403)Gat>Aat	p.D2801N	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2801					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.D2801N(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AAGAAGCCATCTTCATTTCCA	0.413000													25	127					0	0	0.021523	0	0
WSCD2	9671	broad.mit.edu	37	12	108603977	108603977	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr12:108603977G>C	ENST00000332082.4	+	5	1395	c.577G>C	c.(577-579)Gca>Cca	p.A193P	WSCD2_ENST00000261400.3_Missense_Mutation_p.A193P|WSCD2_ENST00000549903.1_Missense_Mutation_p.A193P|WSCD2_ENST00000547525.1_Missense_Mutation_p.A193P			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	193	WSC 1.					integral to membrane		p.A193P(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CGTGAGCGAGGCAGAGTGCGA	0.682000													3	37					0	0	0.004672	0	0
RYR2	6262	broad.mit.edu	37	1	237777895	237777895	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:237777895A>T	ENST00000366574.2	+	37	5784	c.5467A>T	c.(5467-5469)Aag>Tag	p.K1823*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.K1807*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.K1821*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1823	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	p.K1821*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTCTCATCAAGCTTTTCTA	0.473000													33	193					0	0	0.013726	0	0
RPTN	126638	broad.mit.edu	37	1	152128887	152128887	+	Silent	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:152128887G>T	ENST00000316073.3	-	3	752	c.688C>A	c.(688-690)Cgg>Agg	p.R230R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	230	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.R230R(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTTTCACACCGATTTAAGGCA	0.418000													41	182					2.54651e-27	4.24418e-27	0.006999	1	0
OR5L1	219437	broad.mit.edu	37	11	55579752	55579752	+	Silent	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:55579752T>A	ENST00000333973.2	+	1	899	c.810T>A	c.(808-810)gcT>gcA	p.A270A		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A270A(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GTGGAGATGCTGACAAAGTGG	0.473000													6	39					0	0	0.001168	0	0
VCAM1	7412	broad.mit.edu	37	1	101196759	101196759	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:101196759C>A	ENST00000294728.2	+	6	1311	c.1210C>A	c.(1210-1212)Cct>Act	p.P404T	VCAM1_ENST00000347652.2_Missense_Mutation_p.P312T|VCAM1_ENST00000370119.4_Missense_Mutation_p.P342T|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	404					heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.P404T(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TGCAGCATTCCCTAGAGATCC	0.433000													4	31					0.00909568	0.00967626	0.009096	1	0
S1PR3	1903	broad.mit.edu	37	9	91616648	91616648	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr9:91616648G>A	ENST00000375846.3	+	1	5228	c.533G>A	c.(532-534)tGc>tAc	p.C178Y	S1PR3_ENST00000358157.2_Missense_Mutation_p.C178Y			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	178					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.C178Y(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						GGCTGGAACTGCCTGCACAAT	0.582000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	30					0	0	0.004007	0	0
CD19	930	broad.mit.edu	37	16	28943816	28943816	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr16:28943816A>T	ENST00000538922.1	+	2	300	c.238A>T	c.(238-240)Atc>Ttc	p.I80F	CD19_ENST00000324662.3_Missense_Mutation_p.I80F|CD19_ENST00000567541.1_Missense_Mutation_p.I80F	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	80	Ig-like C2-type 1.			I -> S (in Ref. 2; AAA68490, 3; AAA69966, 4; AAB60697 and 5; BAB60954).	cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	p.I80F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GCCCCTGGCCATCTGGCTTTT	0.612000													18	39					0	0	0.010504	0	0
COL12A1	1303	broad.mit.edu	37	6	75812360	75812360	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:75812360G>T	ENST00000322507.8	-	56	8677	c.8368C>A	c.(8368-8370)Cct>Act	p.P2790T	COL12A1_ENST00000345356.6_Missense_Mutation_p.P1626T|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2714T|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2790T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2790	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.P2790T(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGCCTGGAGGACCCTGGGGG	0.488000													19	38					5.03518e-11	7.36856e-11	0.007413	1	0
SYNE1	23345	broad.mit.edu	37	6	152730841	152730841	+	Missense_Mutation	SNP	C	C	G	rs140418114		TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:152730841C>G	ENST00000367255.5	-	43	6835	c.6234G>C	c.(6232-6234)caG>caC	p.Q2078H	SYNE1_ENST00000265368.4_Missense_Mutation_p.Q2078H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q2085H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q2115H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q2085H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2078					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	p.Q2078H(2)|p.Q2085H(1)		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)		AGCACTGACCCTGACTGTAAT	0.368000										HNSCC(10;0.0054)			13	75					0	0	0.020292	0	0
OBSCN	84033	broad.mit.edu	37	1	228433270	228433270	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:228433270G>C	ENST00000570156.2	+	13	3988	c.3914G>C	c.(3913-3915)cGc>cCc	p.R1305P	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1213P|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.R1213P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	284	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R1213P(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCAAAAGTACGCATGGAGGTC	0.622000													9	72					0	0	0.006214	0	0
UBXN11	91544	broad.mit.edu	37	1	26628188	26628188	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:26628188C>T	ENST00000314675.7	-	3	176	c.97G>A	c.(97-99)Gat>Aat	p.D33N	UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000374222.1_Missense_Mutation_p.D33N|UBXN11_ENST00000357089.4_Missense_Mutation_p.D33N|UBXN11_ENST00000374217.2_Missense_Mutation_p.D33N|UBXN11_ENST00000436301.2_5'UTR|UBXN11_ENST00000374221.3_Missense_Mutation_p.D33N|UBXN11_ENST00000374223.1_5'UTR	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	33						cytoplasm|cytoskeleton		p.D33N(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CACTTACCATCTCCATAGATG	0.552000													3	17					0	0	0.009096	0	0
FAT4	79633	broad.mit.edu	37	4	126372825	126372825	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr4:126372825G>T	ENST00000394329.3	+	9	10667	c.10654G>T	c.(10654-10656)Ggt>Tgt	p.G3552C	FAT4_ENST00000335110.5_Missense_Mutation_p.G1850C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3552	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G3552C(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTGAGCACAGGTCCTGCCAC	0.493000													36	92					3.76114e-14	5.72762e-14	0.019004	1	0
HCRTR2	3062	broad.mit.edu	37	6	55142300	55142300	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:55142300G>C	ENST00000370862.3	+	5	1221	c.885G>C	c.(883-885)caG>caC	p.Q295H		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	295					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.Q295H(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAATAAAGCAGATCCGAGCCA	0.498000													8	33					0	0	0.003080	0	0
CFI	3426	broad.mit.edu	37	4	110673626	110673626	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr4:110673626G>A	ENST00000394634.2	-	8	1145	c.938C>T	c.(937-939)gCa>gTa	p.A313V	CFI_ENST00000512148.1_Missense_Mutation_p.A306V|CFI_ENST00000394635.3_Missense_Mutation_p.A321V	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	313					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	p.A313V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TAGCTTACCTGCATCCATGTC	0.294000													4	36					0	0	0.009096	0	0
DENND5A	23258	broad.mit.edu	37	11	9228271	9228271	+	Silent	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:9228271T>A	ENST00000328194.3	-	3	560	c.240A>T	c.(238-240)cgA>cgT	p.R80R	DENND5A_ENST00000530044.1_Silent_p.R80R	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	80	UDENN.							p.R80R(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTCAGGATATCGTGCAAGGA	0.353000													38	133					0	0	0.010771	0	0
TRPC4	7223	broad.mit.edu	37	13	38266263	38266263	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr13:38266263G>C	ENST00000379705.3	-	4	1964	c.1107C>G	c.(1105-1107)caC>caG	p.H369Q	TRPC4_ENST00000338947.5_Missense_Mutation_p.H196Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.H369Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.H369Q|TRPC4_ENST00000447043.1_Missense_Mutation_p.H369Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.H369Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.H196Q|TRPC4_ENST00000426868.2_Missense_Mutation_p.H369Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.H369Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	369					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.H369Q(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGGAGGCTGTGTGGCAGATAA	0.483000													6	46					0	0	0.003080	0	0
TRRAP	8295	broad.mit.edu	37	7	98574614	98574614	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:98574614T>C	ENST00000359863.4	+	55	8488	c.8279T>C	c.(8278-8280)aTg>aCg	p.M2760T	TRRAP_ENST00000446306.3_Missense_Mutation_p.M2742T|TRRAP_ENST00000355540.3_Missense_Mutation_p.M2742T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2760	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.M2742T(1)|p.M2760T(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGAAGATATGTGGGCTGGT	0.498000													28	70					0	0	0.006320	0	0
TCF21	6943	broad.mit.edu	37	6	134210599	134210599	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:134210599G>A	ENST00000367882.4	+	1	324	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	TCF21_ENST00000237316.3_Missense_Mutation_p.G22R|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	22					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.G22R(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GGAATGTGACGGGTTGAAAAT	0.567000													21	69					0	0	0.008871	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27835625	27835625	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr12:27835625T>G	ENST00000318304.8	+	23	2537	c.2254T>G	c.(2254-2256)Tac>Gac	p.Y752D	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.Y721D|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.Y599D|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.Y746D	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	752	SAM 2.				cell adhesion	plasma membrane	protein binding	p.Y752D(1)|p.Y746D(1)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AATGCTACATTACATGACTGT	0.438000													20	79					0	0	0.012319	0	0
ZNF773	374928	broad.mit.edu	37	19	58018365	58018365	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:58018365G>T	ENST00000282292.4	+	4	1042	c.902G>T	c.(901-903)aGg>aTg	p.R301M	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.R300M|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R301I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		ACTGGAGTAAGGCCTTATGAG	0.418000													39	81					6.48837e-15	9.9821e-15	0.010771	1	0
HECTD1	25831	broad.mit.edu	37	14	31637636	31637636	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr14:31637636T>C	ENST00000399332.1	-	10	1978	c.1490A>G	c.(1489-1491)aAg>aGg	p.K497R	HECTD1_ENST00000553700.1_Missense_Mutation_p.K497R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	497					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	p.K497R(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGTATCTTTCTTTTTCTTATC	0.333000													59	188					0	0	0.014410	0	0
NCOR2	9612	broad.mit.edu	37	12	124812058	124812058	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr12:124812058G>A	ENST00000356219.3	-	46	7256	c.7101C>T	c.(7099-7101)ctC>ctT	p.L2367L	NCOR2_ENST00000404121.2_Silent_p.L1921L|NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000405201.1_Silent_p.L2360L|NCOR2_ENST00000429285.2_Silent_p.L2350L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2371					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.L2360P(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CATTGGCGCTGAGCGGCGGGG	0.582000													13	25					0	0	0.013537	0	0
MARK4	57787	broad.mit.edu	37	19	45769531	45769531	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:45769531G>A	ENST00000300843.4	+	7	838	c.541G>A	c.(541-543)Gac>Aac	p.D181N	MARK4_ENST00000262891.4_Missense_Mutation_p.D181N	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	181	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	p.D181N(2)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTACACAGGGACCTGAAGGT	0.567000													8	79					0	0	0.003080	0	0
PHF21B	112885	broad.mit.edu	37	22	45278997	45278997	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr22:45278997G>C	ENST00000313237.5	-	13	1715	c.1565C>G	c.(1564-1566)cCc>cGc	p.P522R	PHF21B_ENST00000403565.1_Missense_Mutation_p.P318R|PHF21B_ENST00000404079.2_Missense_Mutation_p.P468R|PHF21B_ENST00000396103.3_Missense_Mutation_p.P480R	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	522							zinc ion binding	p.P522R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTGGACGGTGGGGTGTGTGGC	0.642000													17	110					0	0	0.008871	0	0
BIRC6	57448	broad.mit.edu	37	2	32772983	32772983	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:32772983A>C	ENST00000421745.2	+	64	13011	c.12877A>C	c.(12877-12879)Act>Cct	p.T4293P		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4293					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.T4293P(1)|p.T4265P(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGCCAAAGGGACTGGCTTTGG	0.433000													16	25					0	0	0.004990	0	0
ZNF681	148213	broad.mit.edu	37	19	23927132	23927132	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:23927132G>A	ENST00000402377.3	-	4	1361	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	ZNF681_ENST00000395385.3_Missense_Mutation_p.S338L	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S338L(1)|p.S407L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTAAGGTGTGAGGACTTGTT	0.398000													7	29					0	0	0.001984	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171820	68171820	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr17:68171820G>T	ENST00000243457.3	+	2	1023	c.640G>T	c.(640-642)Gtg>Ttg	p.V214L	KCNJ2_ENST00000535240.1_Missense_Mutation_p.V214L	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	214					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.V214L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GATGTGGCGAGTGGGCAATCT	0.493000													20	48					2.4624e-09	3.46816e-09	0.008871	1	0
OR5I1	10798	broad.mit.edu	37	11	55703175	55703175	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:55703175A>T	ENST00000301532.3	-	1	701	c.702T>A	c.(700-702)agT>agA	p.S234R		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S234R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCTTCCTCCCACTGAAAGAGC	0.448000													3	25					0	0	0.004672	0	0
BDKRB1	623	broad.mit.edu	37	14	96730467	96730467	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr14:96730467C>A	ENST00000216629.6	+	3	1054	c.448C>A	c.(448-450)Cgg>Agg	p.R150R	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Silent_p.R150R	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	150					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	p.R150R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		GAGGCAGCAGCGGCGGAGGCA	0.637000													12	40					0.000151284	0.000172568	0.016723	1	0
FPR2	2358	broad.mit.edu	37	19	52272883	52272883	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:52272883C>A	ENST00000598776.1	+	2	1744	c.972C>A	c.(970-972)gcC>gcA	p.A324A	FPR2_ENST00000340023.6_Silent_p.A324A|FPR2_ENST00000598953.1_Silent_p.A324A	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	324					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.A324A(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGGAGAGGGCCCTGTCTGAGG	0.557000													6	40					0.00116845	0.00129827	0.001168	1	0
WDR90	197335	broad.mit.edu	37	16	700343	700343	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr16:700343G>T	ENST00000549091.1	+	4	461	c.369G>T	c.(367-369)gaG>gaT	p.E123D	WDR90_ENST00000293879.4_Missense_Mutation_p.E123D	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	123								p.E123D(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGGTCCTGGAGGCCAGGACAC	0.587000													75	134					3.82405e-32	6.48144e-32	0.014410	1	0
OR8I2	120586	broad.mit.edu	37	11	55861049	55861049	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:55861049G>T	ENST00000302124.2	+	1	297	c.266G>T	c.(265-267)cGg>cTg	p.R89L	OR8I2_ENST00000560768.1_Missense_Mutation_p.R89L			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89L(2)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CAATCCAATCGGAGATCCATC	0.403000													29	179					5.45727e-16	8.52698e-16	0.008361	1	0
PRG4	10216	broad.mit.edu	37	1	186276415	186276415	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:186276415C>A	ENST00000445192.2	+	7	1609	c.1564C>A	c.(1564-1566)Cct>Act	p.P522T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P481T|PRG4_ENST00000367486.3_Missense_Mutation_p.P479T|PRG4_ENST00000367485.4_Missense_Mutation_p.P429T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	522	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.P522T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TCCCAAGGAGCCTGCACCCAC	0.637000													9	57					2.17888e-05	2.56338e-05	0.006214	1	0
PPIP5K2	23262	broad.mit.edu	37	5	102494993	102494993	+	Silent	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr5:102494993T>A	ENST00000321521.9	+	17	2454	c.1881T>A	c.(1879-1881)ctT>ctA	p.L627L	PPIP5K2_ENST00000414217.1_Silent_p.L627L|PPIP5K2_ENST00000358359.3_Silent_p.L627L|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	627					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.L627L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATGAAATACTTCAGAAAGACA	0.373000													35	59					0	0	0.021022	0	0
FBN1	2200	broad.mit.edu	37	15	48800778	48800778	+	Splice_Site	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr15:48800778C>A	ENST00000316623.5	-	15	2293		c.e15+1			NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1						heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.?(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATAGCACGAACCTTTGCAATA	0.393000													9	47					0.00621372	0.00665755	0.006214	1	0
HECTD1	25831	broad.mit.edu	37	14	31637595	31637595	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr14:31637595T>C	ENST00000399332.1	-	10	2019	c.1531A>G	c.(1531-1533)Aaa>Gaa	p.K511E	HECTD1_ENST00000553700.1_Missense_Mutation_p.K511E	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	511					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	p.K511E(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GGATCTCCTTTGGGCTCATTA	0.353000													71	192					0	0	0.014410	0	0
CEL	1056	broad.mit.edu	37	9	135947049	135947049	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr9:135947049C>A	ENST00000372080.4	+	11	2185	c.2169C>A	c.(2167-2169)tcC>tcA	p.S723S	CEL_ENST00000351304.7_Silent_p.S654S	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	720	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	p.S723S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGGGTGACTCCGGGGCCCCCC	0.731000													8	18					0.00448238	0.00488987	0.004482	1	0
ANKRD23	200539	broad.mit.edu	37	2	97506536	97506536	+	Silent	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:97506536A>G	ENST00000318357.4	-	4	455	c.414T>C	c.(412-414)aaT>aaC	p.N138N	ANKRD23_ENST00000476975.1_Intron|ANKRD23_ENST00000418232.1_Silent_p.N138N|ANKRD23_ENST00000331001.2_Intron	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	138						nucleus		p.N138N(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TGTCATGGGCATTGGGGTCCC	0.597000													23	74					0	0	0.018920	0	0
ZNF468	90333	broad.mit.edu	37	19	53352410	53352410	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:53352410G>C	ENST00000595646.1	-	3	192	c.72C>G	c.(70-72)tgC>tgG	p.C24W	ZNF468_ENST00000243639.4_Missense_Mutation_p.C24W|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_5'UTR|ZNF468_ENST00000396409.4_5'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C24W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CAGGGTCCAGGCATTTCCACT	0.483000													47	124					0	0	0.014410	0	0
STAT1	6772	broad.mit.edu	37	2	191865802	191865802	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:191865802T>A	ENST00000361099.3	-	6	847	c.460A>T	c.(460-462)Atg>Ttg	p.M154L	STAT1_ENST00000540176.1_Missense_Mutation_p.M154L|STAT1_ENST00000409465.1_Missense_Mutation_p.M154L|STAT1_ENST00000392322.3_Missense_Mutation_p.M154L|STAT1_ENST00000392323.2_Missense_Mutation_p.M156L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	154					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.M154L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ATACTCACCATAACCTTGTCC	0.403000													22	67					0	0	0.012319	0	0
OR8J3	81168	broad.mit.edu	37	11	55904455	55904455	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:55904455G>A	ENST00000301529.1	-	1	739	c.740C>T	c.(739-741)gCa>gTa	p.A247V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A247V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AACCGTGACTGCTATCATATG	0.398000													9	62					0	0	0.004482	0	0
SNIP1	79753	broad.mit.edu	37	1	38019714	38019714	+	Silent	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:38019714T>C	ENST00000296215.6	-	1	189	c.117A>G	c.(115-117)gcA>gcG	p.A39A	SNIP1_ENST00000468040.1_Intron	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	39					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	p.A39A(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GGGCGGGAGGTGCGACTTCTG	0.751000													5	13					0	0	0.001168	0	0
DNAH11	8701	broad.mit.edu	37	7	21742341	21742341	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:21742341G>T	ENST00000328843.6	+	38	6246	c.6215G>T	c.(6214-6216)tGg>tTg	p.W2072L	DNAH11_ENST00000409508.3_Missense_Mutation_p.W2065L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2072	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.W2072L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CATTACGACTGGGGACTTCGT	0.378000									Kartagener syndrome				10	25					7.48243e-07	9.39217e-07	0.006214	1	0
MLEC	9761	broad.mit.edu	37	12	121125332	121125332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr12:121125332G>T	ENST00000228506.3	+	1	661	c.233G>T	c.(232-234)cGa>cTa	p.R78L	MLEC_ENST00000412616.2_Missense_Mutation_p.R78L	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	78					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.R78L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CGGGTGGGCCGAGGTGAGAGT	0.726000													3	9					0.004672	0.00502366	0.004672	1	0
FAM66D	100132923	broad.mit.edu	37	8	11985701	11985701	+	RNA	SNP	A	A	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr8:11985701A>C	ENST00000434078.2	+	0	608					NR_027425.1																						GTAAAAGAGGACATAGGCCTG	0.458000													3	10					0	0	0.014758	0	0
OTUD7B	56957	broad.mit.edu	37	1	149936267	149936267	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:149936267C>A	ENST00000369135.3	-	6	906	c.612G>T	c.(610-612)tgG>tgT	p.W204C	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	204	Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	p.W204C(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CATGGAAACCCCACATTCCTG	0.468000													24	73					9.90768e-06	1.20825e-05	0.004656	1	0
ABCC12	94160	broad.mit.edu	37	16	48130791	48130791	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr16:48130791C>T	ENST00000311303.3	-	22	3406	c.3061G>A	c.(3061-3063)Gct>Act	p.A1021T	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1021	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A1021T(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CACCTGAGAGCACAGTTAAAG	0.463000													13	69					0	0	0.016723	0	0
DAB2IP	153090	broad.mit.edu	37	9	124543753	124543753	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr9:124543753G>T	ENST00000408936.3	+	15	3507	c.3325G>T	c.(3325-3327)Gtg>Ttg	p.V1109L	DAB2IP_ENST00000309989.1_Missense_Mutation_p.V985L|DAB2IP_ENST00000259371.2_Missense_Mutation_p.V1081L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1109					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	p.V985L(1)|p.V1081L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GTTGATGTCCGTGGAGGAAGA	0.587000													20	31					1.01871e-10	1.48356e-10	0.008871	1	0
CD300C	10871	broad.mit.edu	37	17	72540834	72540834	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr17:72540834G>T	ENST00000330793.1	-	2	674	c.314C>A	c.(313-315)gCa>gAa	p.A105E		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	105	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.A105E(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GTAGGTGCCTGCGTCCTCCTC	0.572000													14	41					1.3612e-06	1.68744e-06	0.003163	1	0
SCFD1	23256	broad.mit.edu	37	14	31169464	31169464	+	Splice_Site	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr14:31169464G>T	ENST00000458591.2	+	16	1637	c.1410_splice	c.e16+1	p.E470_splice	SCFD1_ENST00000544052.2_Splice_Site_p.E403_splice|SCFD1_ENST00000396629.2_Splice_Site_p.E378_splice|SCFD1_ENST00000421551.3_Splice_Site_p.E411_splice|SCFD1_ENST00000554486.1_3'UTR|SCFD1_ENST00000541123.1_Splice_Site_p.E285_splice	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	470					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	p.E470D(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CACCTTCTGAGGTATGTCCTT	0.353000													32	105					7.16026e-08	9.42139e-08	0.012213	1	0
DCX	1641	broad.mit.edu	37	X	110653443	110653443	+	Missense_Mutation	SNP	C	C	T	rs104894779		TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chrX:110653443C>T	ENST00000338081.3	-	2	598	c.427G>A	c.(427-429)Gac>Aac	p.D143N	DCX_ENST00000371993.2_Missense_Mutation_p.D62N|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.D62N|DCX_ENST00000356220.3_Missense_Mutation_p.D62N|DCX_ENST00000488120.1_Missense_Mutation_p.D62N	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	143	Doublecortin 1.		D -> N (in LISX1 and SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.D62N(1)|p.D143N(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AAGTAGCGGTCCCCATTGCGG	0.537000													17	55					0	0	0.004990	0	0
DOCK7	85440	broad.mit.edu	37	1	63128798	63128798	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:63128798C>A	ENST00000251157.5	-	2	75	c.42G>T	c.(40-42)acG>acT	p.T14T	DOCK7_ENST00000340370.5_Silent_p.T14T|DOCK7_ENST00000404627.2_Silent_p.T14T	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	14					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.T14T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CGGCTGCCACCGTTCTACAAT	0.353000													29	89					6.38683e-12	9.43867e-12	0.008361	1	0
OSBPL5	114879	broad.mit.edu	37	11	3114834	3114834	+	Silent	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:3114834C>T	ENST00000263650.7	-	17	2028	c.1869G>A	c.(1867-1869)ccG>ccA	p.P623P	OSBPL5_ENST00000348039.5_Silent_p.P555P|OSBPL5_ENST00000389989.3_Silent_p.P555P|OSBPL5_ENST00000478260.1_Silent_p.P77P|OSBPL5_ENST00000542243.1_Silent_p.P254P|OSBPL5_ENST00000525498.1_Silent_p.P534P	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	623					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	p.P623P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTCCCCGCTCGGGGTCCAGA	0.672000													13	41					0	0	0.020292	0	0
EGLN1	54583	broad.mit.edu	37	1	231509813	231509813	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:231509813C>A	ENST00000366641.3	-	2	4079	c.924G>T	c.(922-924)acG>acT	p.T308T	EGLN1_ENST00000476717.1_5'UTR	NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN	egl-9 family hypoxia-inducible factor 1	308	Fe2OG dioxygenase.				negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding	p.T308T(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	GTACATAACCCGTTCCATTGC	0.338000													30	51					4.15321e-07	5.25723e-07	0.009535	1	0
IL26	55801	broad.mit.edu	37	12	68595652	68595652	+	Silent	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr12:68595652A>T	ENST00000229134.4	-	5	553	c.489T>A	c.(487-489)atT>atA	p.I163I	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	163					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	p.I163I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ATAATTTTTTAATCCAGGAAA	0.294000													13	60					0	0	0.004990	0	0
TYR	7299	broad.mit.edu	37	11	88911127	88911127	+	Silent	SNP	C	C	A	rs35541275		TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:88911127C>A	ENST00000263321.5	+	1	508	c.6C>A	c.(4-6)ctC>ctA	p.L2L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	2					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.L3M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GAAGAATGCTCCTGGCTGTTT	0.483000													6	44					0.00198382	0.00218002	0.001984	1	0
DCST1	149095	broad.mit.edu	37	1	155011920	155011920	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:155011920T>G	ENST00000295542.1	+	5	400	c.304T>G	c.(304-306)Tgt>Ggt	p.C102G	DCST1_ENST00000423025.2_Missense_Mutation_p.C77G|DCST1_ENST00000368419.2_Missense_Mutation_p.C102G|DCST1_ENST00000392480.1_Missense_Mutation_p.C102G	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	102						integral to membrane	zinc ion binding	p.C102G(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TCACATCCGCTGTGCCAGCCT	0.612000													19	85					0	0	0.010504	0	0
KDM2A	22992	broad.mit.edu	37	11	67013473	67013473	+	Silent	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:67013473A>T	ENST00000529006.2	+	15	2297	c.1851A>T	c.(1849-1851)tcA>tcT	p.S617S	KDM2A_ENST00000308783.5_Silent_p.S75S|KDM2A_ENST00000530342.1_Silent_p.S178S|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.S617S	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.S617S(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGCCTCACTCAGTCACATGTT	0.423000													15	52					0	0	0.004007	0	0
CRB1	23418	broad.mit.edu	37	1	197390959	197390959	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:197390959G>T	ENST00000367397.1	+	2	1002	c.144G>T	c.(142-144)aaG>aaT	p.K48N	CRB1_ENST00000367399.2_Missense_Mutation_p.K555N|CRB1_ENST00000538660.1_Missense_Mutation_p.K667N|CRB1_ENST00000544212.1_Missense_Mutation_p.K148N|CRB1_ENST00000535699.1_Missense_Mutation_p.K598N|CRB1_ENST00000367400.3_Missense_Mutation_p.K667N|CRB1_ENST00000543483.1_3'UTR			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	667	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.K667N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAAATGTCAAGGCAGGCTGTG	0.473000													16	136					7.07596e-05	8.19609e-05	0.006122	1	0
MYPN	84665	broad.mit.edu	37	10	69948775	69948775	+	Silent	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr10:69948775G>T	ENST00000358913.5	+	13	3305	c.2817G>T	c.(2815-2817)acG>acT	p.T939T	MYPN_ENST00000354393.2_Silent_p.T664T|MYPN_ENST00000540630.1_Silent_p.T939T	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	939						nucleus|sarcomere	actin binding	p.T939T(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGATCCCCACGGGCAAGTGTA	0.453000													16	37					4.7546e-09	6.60362e-09	0.004007	1	0
IQUB	154865	broad.mit.edu	37	7	123143273	123143273	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:123143273G>T	ENST00000466202.1	-	4	1253	c.677C>A	c.(676-678)aCt>aAt	p.T226N	IQUB_ENST00000324698.6_Missense_Mutation_p.T226N|IQUB_ENST00000434450.1_Missense_Mutation_p.T226N|IQUB_ENST00000488987.1_5'UTR			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	226								p.T226N(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GACAGTGACAGTTATGATTTG	0.358000													60	142					2.40265e-35	4.11883e-35	0.014410	1	0
ROBO2	6092	broad.mit.edu	37	3	77651490	77651490	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr3:77651490C>A	ENST00000461745.1	+	20	3884	c.2984C>A	c.(2983-2985)aCc>aAc	p.T995N	ROBO2_ENST00000487694.3_Missense_Mutation_p.T1011N|ROBO2_ENST00000332191.8_Missense_Mutation_p.T995N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	995					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.T1011N(1)|p.T995N(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACACAGGCTACCCCATATGCC	0.428000													10	22					2.17888e-05	2.56338e-05	0.006214	1	0
ZNF107	51427	broad.mit.edu	37	7	64168599	64168599	+	Silent	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:64168599A>T	ENST00000395391.1	+	4	3292	c.1917A>T	c.(1915-1917)gcA>gcT	p.A639A	ZNF107_ENST00000423627.1_Silent_p.A639A|ZNF107_ENST00000344930.3_Silent_p.A639A			Q9UII5	ZN107_HUMAN	zinc finger protein 107	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A639A(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACCAATGTGCAGAATGTGGCA	0.373000													16	32					0	0	0.004990	0	0
POLD2	5425	broad.mit.edu	37	7	44154947	44154947	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:44154947G>T	ENST00000406581.2	-	11	1845	c.1196C>A	c.(1195-1197)cCg>cAg	p.P399Q	POLD2_ENST00000223361.3_Missense_Mutation_p.P385Q|POLD2_ENST00000452185.1_Missense_Mutation_p.P399Q	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	399					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	p.P399Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GTAGACATGCGGGCACTCTGG	0.532000													19	53					1.40151e-16	2.20132e-16	0.010504	1	0
TTN	7273	broad.mit.edu	37	2	179395870	179395870	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:179395870G>T	ENST00000589042.1	-	358	105696	c.105472C>A	c.(105472-105474)Cca>Aca	p.P35158T	TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P33517T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P26093T|TTN_ENST00000342175.6_Missense_Mutation_p.P26285T|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P32590T|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26218T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33517							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P26218T(1)|p.P32590T(1)|p.P26093T(1)|p.P26285T(1)|p.P32588T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCACAGTTGGTACCGGCTCA	0.507000													37	147					1.57351e-24	2.55165e-24	0.017118	1	0
RCOR3	55758	broad.mit.edu	37	1	211487073	211487073	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:211487073T>A	ENST00000367005.4	+	11	1592	c.1451T>A	c.(1450-1452)aTt>aAt	p.I484N	RCOR3_ENST00000367006.4_3'UTR|RCOR3_ENST00000526255.1_3'UTR|RCOR3_ENST00000419091.2_Missense_Mutation_p.I542N	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.I484N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CCATCACTTATTGGAATTCAG	0.478000													11	43					0	0	0.008291	0	0
DDX43	55510	broad.mit.edu	37	6	74117809	74117809	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:74117809G>A	ENST00000370336.4	+	9	1322	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	388	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.K388K(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCAATCTGAAGAATATAACCT	0.413000													13	55					0	0	0.003163	0	0
OR10G8	219869	broad.mit.edu	37	11	123900870	123900870	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:123900870C>T	ENST00000431524.1	+	1	574	c.541C>T	c.(541-543)Ccg>Tcg	p.P181S		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181S(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTGTGATGCACCGCCCATCCT	0.517000													25	103					0	0	0.018920	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													5	76					2.0095e-06	2.47069e-06	0.001984	1	0
TLR2	7097	broad.mit.edu	37	4	154626374	154626374	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr4:154626374A>T	ENST00000260010.6	+	1	3723	c.2315A>T	c.(2314-2316)gAa>gTa	p.E772V		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	772	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	p.E772V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GCTCAGCGGGAAGGATTTTGG	0.468000													15	46					0	0	0.004007	0	0
E2F7	144455	broad.mit.edu	37	12	77427701	77427701	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr12:77427701C>A	ENST00000322886.7	-	8	1480	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H	E2F7_ENST00000416496.2_Missense_Mutation_p.Q415H	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	415					cell cycle	transcription factor complex	DNA binding|identical protein binding	p.Q415H(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TCTCAGAAGCCTGAACTGTGT	0.458000													41	75					3.61848e-18	5.77417e-18	0.007835	1	0
OBSCN	84033	broad.mit.edu	37	1	228402005	228402005	+	Silent	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:228402005G>T	ENST00000570156.2	+	4	1463	c.1389G>T	c.(1387-1389)ggG>ggT	p.G463G	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.G463G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.G463G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	463	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.G463G(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGTGGCGGGGGGCCGCGTGG	0.697000													6	54					2.7689e-08	3.77577e-08	0.001984	1	0
ZIM3	114026	broad.mit.edu	37	19	57646819	57646819	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:57646819G>T	ENST00000269834.1	-	5	1271	c.886C>A	c.(886-888)Caa>Aaa	p.Q296K		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q296K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTTTTATGTTGAATGAGGGTT	0.368000													20	138					4.26978e-12	6.34125e-12	0.018920	1	0
ZNF676	163223	broad.mit.edu	37	19	22363072	22363072	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:22363072C>T	ENST00000397121.2	-	3	1764	c.1447G>A	c.(1447-1449)Ggc>Agc	p.G483S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G483S(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAGCCTTTGCCACATTCTTCA	0.398000													21	42					0	0	0.008871	0	0
OR5A2	219981	broad.mit.edu	37	11	59190311	59190311	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:59190311G>C	ENST00000302040.4	-	1	138	c.116C>G	c.(115-117)aCg>aGg	p.T39R		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T39R(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCAGGCCAACGTCAGGAGGTA	0.448000													31	45					0	0	0.009535	0	0
TRMT10A	93587	broad.mit.edu	37	4	100478502	100478502	+	Splice_Site	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr4:100478502C>A	ENST00000273962.3	-	4	732	c.420_splice	c.e4+1	p.Q140_splice	TRMT10A_ENST00000394877.3_Splice_Site_p.Q140_splice|TRMT10A_ENST00000394876.2_Splice_Site_p.Q140_splice	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)									p.Q140H(1)									TTACACATACCTGCACAGGAT	0.363000													10	49					2.17888e-05	2.56338e-05	0.006214	1	0
NCOR2	9612	broad.mit.edu	37	12	124812059	124812059	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr12:124812059A>G	ENST00000356219.3	-	46	7255	c.7100T>C	c.(7099-7101)cTc>cCc	p.L2367P	NCOR2_ENST00000404121.2_Missense_Mutation_p.L1921P|NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000405201.1_Missense_Mutation_p.L2360P|NCOR2_ENST00000429285.2_Missense_Mutation_p.L2350P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2371					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.L2360P(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ATTGGCGCTGAGCGGCGGGGA	0.582000													13	25					0	0	0.013537	0	0
UPP2	151531	broad.mit.edu	37	2	158971741	158971741	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:158971741G>A	ENST00000605860.1	+	6	526	c.480G>A	c.(478-480)atG>atA	p.M160I	UPP2_ENST00000005756.4_Missense_Mutation_p.M103I|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Missense_Mutation_p.M160I			O95045	UPP2_HUMAN	uridine phosphorylase 2	103					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	p.M103I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GATACTGTATGTACAAAACCG	0.438000													11	47					0	0	0.008291	0	0
COPS7A	50813	broad.mit.edu	37	12	6833886	6833886	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr12:6833886G>A	ENST00000543155.1	+	2	546	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	COPS7A_ENST00000534947.1_Missense_Mutation_p.A22T|COPS7A_ENST00000539735.1_Missense_Mutation_p.A22T|COPS7A_ENST00000542150.1_Intron|COPS7A_ENST00000534877.1_Missense_Mutation_p.A22T|COPS7A_ENST00000229251.3_Missense_Mutation_p.A22T|COPS7A_ENST00000538410.1_Missense_Mutation_p.A22T	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	22					cullin deneddylation	cytoplasm|signalosome		p.A22T(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						AGCCAAGTCGGCCAAGGGGGC	0.577000													11	61					0	0	0.008291	0	0
TEKT4	150483	broad.mit.edu	37	2	95541448	95541448	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:95541448G>C	ENST00000295201.4	+	5	1189	c.1052G>C	c.(1051-1053)cGg>cCg	p.R351P	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	351					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.R351P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGCTCGCACCGGCCCAACATG	0.637000													7	26					0	0	0.001984	0	0
OR8I2	120586	broad.mit.edu	37	11	55861048	55861048	+	Missense_Mutation	SNP	C	C	T	rs138846423		TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:55861048C>T	ENST00000302124.2	+	1	296	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	OR8I2_ENST00000560768.1_Missense_Mutation_p.R89W			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R89L(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CCAATCCAATCGGAGATCCAT	0.398000													29	178					0	0	0.008361	0	0
SYT6	148281	broad.mit.edu	37	1	114682356	114682356	+	Silent	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:114682356G>T	ENST00000393296.1	-	2	470	c.393C>A	c.(391-393)gcC>gcA	p.A131A	SYT6_ENST00000369547.1_Silent_p.A46A			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	131					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.A46A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATCTTCACGGCCGCCTCCA	0.617000													10	51					1.76689e-08	2.4204e-08	0.006214	1	0
FCRL2	79368	broad.mit.edu	37	1	157737280	157737280	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:157737280G>A	ENST00000361516.3	-	6	951	c.903C>T	c.(901-903)gtC>gtT	p.V301V	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_Silent_p.V48V|FCRL2_ENST00000392274.3_Silent_p.V301V	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	301	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.V48V(1)|p.V301V(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGAGGGTGAGGACAGGGCGAG	0.552000													8	42					0	0	0.004482	0	0
GPRASP2	114928	broad.mit.edu	37	X	101969993	101969993	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chrX:101969993G>T	ENST00000543253.1	+	5	1115	c.196G>T	c.(196-198)Gcc>Tcc	p.A66S	GPRASP2_ENST00000535209.1_Missense_Mutation_p.A66S|GPRASP2_ENST00000332262.5_Missense_Mutation_p.A66S	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2									p.A66S(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CAAAACTGAGGCCCAAGCAAT	0.582000													34	24					2.20262e-25	3.63069e-25	0.013726	1	0
ASB7	140460	broad.mit.edu	37	15	101170058	101170058	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr15:101170058C>T	ENST00000332783.7	+	5	1413	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Missense_Mutation_p.R210C	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	210					intracellular signal transduction			p.R210C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			AAACTTGGGTCGCTTAGAAGA	0.473000													3	46					0	0	0.004672	0	0
MMP20	9313	broad.mit.edu	37	11	102482490	102482490	+	Silent	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:102482490A>G	ENST00000260228.2	-	3	531	c.519T>C	c.(517-519)aaT>aaC	p.N173N	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	173					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.N173N(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CAATACCTCCATTTTCAAAAG	0.438000													18	40					0	0	0.012319	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369930	86369930	+	Silent	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr13:86369930T>C	ENST00000400286.2	-	2	1312	c.714A>G	c.(712-714)ccA>ccG	p.P238P		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	238	LRRCT 1.					integral to membrane		p.P238P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTATAGACTGTGGAGGCATGT	0.413000													19	87					0	0	0.007413	0	0
IL21R	50615	broad.mit.edu	37	16	27460086	27460086	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr16:27460086A>T	ENST00000337929.3	+	9	1572	c.1099A>T	c.(1099-1101)Agg>Tgg	p.R367W	IL21R_ENST00000395754.4_Missense_Mutation_p.R367W|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Missense_Mutation_p.R367W|IL21R_ENST00000564089.1_Missense_Mutation_p.R367W	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	367					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.R367W(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CAGTGAGGAGAGGGATCGGCC	0.617000			T	BCL6	NHL								9	48					0	0	0.006214	0	0
CSMD1	64478	broad.mit.edu	37	8	2944743	2944743	+	Silent	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr8:2944743C>T	ENST00000520002.1	-	50	7908	c.7353G>A	c.(7351-7353)gcG>gcA	p.A2451A	CSMD1_ENST00000537824.1_Silent_p.A2450A|CSMD1_ENST00000602723.1_Silent_p.A2451A|CSMD1_ENST00000400186.3_Silent_p.A2451A|CSMD1_ENST00000542608.1_Silent_p.A2450A|CSMD1_ENST00000602557.1_Silent_p.A2451A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2451	Sushi 14.					integral to membrane		p.A2450A(1)|p.A2179A(1)		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)		TGCTTCCAACCGCTCCTGCAG	0.507000													7	45					0	0	0.003080	0	0
TGM6	343641	broad.mit.edu	37	20	2397970	2397970	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr20:2397970G>T	ENST00000202625.2	+	10	1490	c.1429G>T	c.(1429-1431)Ggg>Tgg	p.G477W	TGM6_ENST00000381423.1_Missense_Mutation_p.G477W	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	477					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G477W(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCGCAGGGCTGGGGGTCGCTG	0.637000													3	8					0.004672	0.00502366	0.004672	1	0
IGHV1-46	28465	broad.mit.edu	37	14	106967542	106967542	+	RNA	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr14:106967542T>C	ENST00000390622.2	-	0	246																											TGTTGGATGATGCTTTCAGGG	0.458000													11	26					0	0	0.008291	0	0
EPSTI1	94240	broad.mit.edu	37	13	43528100	43528100	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr13:43528100T>C	ENST00000313640.7	-	6	611	c.547A>G	c.(547-549)Aga>Gga	p.R183G	EPSTI1_ENST00000398762.3_Missense_Mutation_p.R183G|EPSTI1_ENST00000313624.7_Missense_Mutation_p.R183G|EPSTI1_ENST00000476830.2_5'UTR	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	183								p.R183G(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TGATGCTCTCTAAATGCTTCT	0.323000													11	29					0	0	0.010729	0	0
ANKRD44	91526	broad.mit.edu	37	2	197954713	197954713	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:197954713T>G	ENST00000328737.2	-	11	1145	c.1069A>C	c.(1069-1071)Aat>Cat	p.N357H	ANKRD44_ENST00000539527.1_Missense_Mutation_p.N310H|ANKRD44_ENST00000409153.1_Missense_Mutation_p.N382H|ANKRD44_ENST00000450567.1_Missense_Mutation_p.N357H|ANKRD44_ENST00000282272.8_Missense_Mutation_p.N374H|ANKRD44_ENST00000337207.5_Missense_Mutation_p.N357H			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	382							protein binding	p.N382H(1)|p.N357H(1)|p.N179H(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GAGTGAGCATTTAGGGCAGCT	0.438000													12	68					0	0	0.003163	0	0
ITGA5	3678	broad.mit.edu	37	12	54803130	54803130	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr12:54803130C>A	ENST00000293379.4	-	4	730	c.469G>T	c.(469-471)Gct>Tct	p.A157S	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	157					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.A157S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TACAGTGGAGCGCATGCCTGG	0.617000													4	18					0.000602214	0.000676645	0.014758	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130799844	130799844	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr5:130799844G>A	ENST00000509018.1	-	18	2575	c.2370C>T	c.(2368-2370)tcC>tcT	p.S790S	RAPGEF6_ENST00000510071.1_Silent_p.S790S|RAPGEF6_ENST00000308008.6_Silent_p.S790S|RAPGEF6_ENST00000296859.6_Silent_p.S790S|RAPGEF6_ENST00000307984.5_Silent_p.S795S|RAPGEF6_ENST00000507093.1_Silent_p.S790S|RAPGEF6_ENST00000512052.1_Silent_p.S505S|FNIP1_ENST00000514667.1_Silent_p.S840S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	790	Ras-associating.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	p.S790S(2)|p.S840S(1)|p.S795S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AATATGTGTCGGATGCACCGG	0.393000													23	37					0	0	0.021523	0	0
CASQ1	844	broad.mit.edu	37	1	160163610	160163610	+	Silent	SNP	T	T	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:160163610T>C	ENST00000368079.3	+	3	695	c.420T>C	c.(418-420)gcT>gcC	p.A140A	CASQ1_ENST00000368078.3_Silent_p.A146A	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	146			Y -> F (in dbSNP:rs34489853).			mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	p.A140A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGTTTTCTGCTGACACCATCG	0.547000													15	59					0	0	0.004007	0	0
GPNMB	10457	broad.mit.edu	37	7	23296665	23296665	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:23296665C>G	ENST00000258733.4	+	4	817	c.522C>G	c.(520-522)atC>atG	p.I174M	GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000381990.2_Missense_Mutation_p.I174M|GPNMB_ENST00000409458.3_Missense_Mutation_p.I174M|GPNMB_ENST00000539136.1_Missense_Mutation_p.I75M			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	174					negative regulation of cell proliferation	melanosome		p.I174M(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GGAATTTCATCTACGTCTTCC	0.438000													37	74					0	0	0.009718	0	0
DNAH9	1770	broad.mit.edu	37	17	11806036	11806036	+	Splice_Site	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr17:11806036G>T	ENST00000262442.3	+	60	11475	c.11406_splice	c.e60-1	p.V3803_splice	DNAH9_ENST00000396001.2_Splice_Site_p.V115_splice|DNAH9_ENST00000454412.2_Splice_Site_p.V3803_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3803					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V3803L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AATTTCCCAGGTACTTTCATC	0.428000													13	33					0.00010058	0.000115168	0.013537	1	0
NF1	4763	broad.mit.edu	37	17	29546053	29546053	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr17:29546053G>C	ENST00000358273.4	+	14	1941	c.1558G>C	c.(1558-1560)Ggc>Cgc	p.G520R	NF1_ENST00000431387.4_Missense_Mutation_p.G520R|NF1_ENST00000356175.3_Missense_Mutation_p.G520R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	520					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)|p.G520R(2)|p.N510_E547del(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGAAACCCAAGGCAGTACAGC	0.418000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			3	27					0	0	0.009096	0	0
PRMT8	56341	broad.mit.edu	37	12	3701463	3701463	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr12:3701463G>A	ENST00000382622.3	+	9	1436	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.R340Q	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	349					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.R349Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTCACTGTCCGGAGGGGGGAG	0.542000													30	76					0	0	0.008361	0	0
CD300C	10871	broad.mit.edu	37	17	72540836	72540836	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr17:72540836G>T	ENST00000330793.1	-	2	672	c.312C>A	c.(310-312)gaC>gaA	p.D104E		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	104	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.D104E(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						AGGTGCCTGCGTCCTCCTCTG	0.582000													14	40					1.3612e-06	1.68744e-06	0.003163	1	0
C7	730	broad.mit.edu	37	5	40947905	40947905	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr5:40947905A>G	ENST00000313164.9	+	8	1299	c.940A>G	c.(940-942)Aga>Gga	p.R314G		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	314	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.R314G(1)					Ovarian(839;0.0112)				AGGAGAATACAGAGTTCTATT	0.388000													17	60					0	0	0.004007	0	0
RNF213	57674	broad.mit.edu	37	17	78269454	78269454	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr17:78269454G>A	ENST00000582970.1	+	10	1996	c.1853G>A	c.(1852-1854)aGt>aAt	p.S618N	RNF213_ENST00000508628.2_Missense_Mutation_p.S667N|RNF213_ENST00000319921.4_Missense_Mutation_p.S618N|RNF213_ENST00000456466.1_Missense_Mutation_p.S618N	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	618								p.S618N(2)|p.S667N(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCAGTGAGGAGTAAACTGAAA	0.463000													5	31					0	0	0.014758	0	0
PLEC	5339	broad.mit.edu	37	8	144994080	144994080	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr8:144994080C>A	ENST00000322810.4	-	32	10489	c.10320G>T	c.(10318-10320)ctG>ctT	p.L3440L	PLEC_ENST00000356346.3_Silent_p.L3289L|PLEC_ENST00000354958.2_Silent_p.L3281L|PLEC_ENST00000354589.3_Silent_p.L3303L|PLEC_ENST00000357649.2_Silent_p.L3307L|PLEC_ENST00000345136.3_Silent_p.L3303L|PLEC_ENST00000527096.1_Silent_p.L3326L|PLEC_ENST00000436759.2_Silent_p.L3330L|PLEC_ENST00000398774.2_Silent_p.L3271L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3440	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.L3330L(1)|p.L3440L(1)|p.L3303L(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTGAAGGACAGCCTCTCCT	0.622000													5	75					0.014758	0.0155894	0.014758	1	0
ABCA3	21	broad.mit.edu	37	16	2338148	2338148	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr16:2338148G>A	ENST00000301732.5	-	21	3583	c.2883C>T	c.(2881-2883)ggC>ggT	p.G961G	ABCA3_ENST00000382381.3_Silent_p.G903G	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	961					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.G961G(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGCCGTACTCGCCCAAGGTCA	0.632000													7	10					0	0	0.001984	0	0
NAF1	92345	broad.mit.edu	37	4	164087832	164087832	+	Silent	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr4:164087832G>A	ENST00000274054.2	-	1	241	c.48C>T	c.(46-48)ttC>ttT	p.F16F	NAF1_ENST00000422287.2_Silent_p.F16F	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	16					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	p.F16F(2)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				CGGTGCCATTGAATTTCAGAG	0.652000													4	14					0	0	0.009096	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30888023	30888023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr12:30888023C>A	ENST00000251071.5	-	4	1438	c.688G>T	c.(688-690)Gag>Tag	p.E230*	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000395805.2_Nonsense_Mutation_p.E230*|CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.E230*|CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.E230*	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	230					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	p.E230*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGTACGTGCTCCTGTGTCAAG	0.423000													57	168					4.09106e-26	6.78077e-26	0.014410	1	0
LEO1	123169	broad.mit.edu	37	15	52246769	52246769	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr15:52246769C>G	ENST00000299601.5	-	7	1309	c.1249G>C	c.(1249-1251)Gaa>Caa	p.E417Q	LEO1_ENST00000315141.5_Intron	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	417					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.E417Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		ATAGTATTTTCTACCTGTTTC	0.363000													25	93					0	0	0.004656	0	0
NXPE2	120406	broad.mit.edu	37	11	114568806	114568806	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:114568806G>A	ENST00000375475.5	+	3	270	c.172G>A	c.(172-174)Ggg>Agg	p.G58R	NXPE2_ENST00000389586.4_Missense_Mutation_p.G58R					neurexophilin and PC-esterase domain family, member 2									p.G58R(2)									CCTGAACCAAGGGAACATCTT	0.353000													5	12					0	0	0.014758	0	0
ACER1	125981	broad.mit.edu	37	19	6312483	6312483	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr19:6312483C>A	ENST00000301452.4	-	2	198	c.121G>T	c.(121-123)Ggg>Tgg	p.G41W		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	41						endoplasmic reticulum membrane|integral to membrane	ceramidase activity	p.G41W(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						ATCAGTGGCCCGAAGATGAAG	0.557000													19	39					0.000958276	0.00106871	0.007413	1	0
HEMGN	55363	broad.mit.edu	37	9	100693001	100693001	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr9:100693001C>A	ENST00000259456.3	-	4	819	c.676G>T	c.(676-678)Gaa>Taa	p.E226*		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	226					cell differentiation|multicellular organismal development			p.E226*(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GCCAGATCTTCTCGTTTAGCC	0.428000													9	254					3.09899e-07	3.93939e-07	0.004482	1	0
FBXO15	201456	broad.mit.edu	37	18	71797821	71797821	+	Silent	SNP	C	C	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr18:71797821C>T	ENST00000269500.5	-	4	512	c.177G>A	c.(175-177)gaG>gaA	p.E59E	FBXO15_ENST00000419743.2_Silent_p.E135E	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	59								p.E59E(1)|p.E135E(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TAGCTATCTTCTCTACTGAAT	0.348000													17	28					0	0	0.004007	0	0
TPX2	22974	broad.mit.edu	37	20	30354472	30354472	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr20:30354472G>A	ENST00000340513.4	+	5	871	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	TPX2_ENST00000300403.6_Missense_Mutation_p.A115T			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	115					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.A115T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAAAACTCCAGCCCAGCCTCA	0.398000													35	90					0	0	0.005524	0	0
NOTCH1	4851	broad.mit.edu	37	9	139409124	139409124	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr9:139409124C>A	ENST00000277541.6	-	13	2120	c.2045G>T	c.(2044-2046)tGt>tTt	p.C682F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	682	EGF-like 18; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.C682F(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTGCCCGCACACTCATCGAT	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	8					6.4e-05	7.44186e-05	0.004672	1	0
KLHL1	57626	broad.mit.edu	37	13	70681367	70681367	+	Silent	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr13:70681367A>G	ENST00000377844.4	-	1	1224	c.465T>C	c.(463-465)tcT>tcC	p.S155S	KLHL1_ENST00000545028.1_Silent_p.S23S|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	155					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S155S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTGCCTGGCTAGAGTTGTCTG	0.537000													30	83					0	0	0.015359	0	0
MGAT5	4249	broad.mit.edu	37	2	135076256	135076256	+	Silent	SNP	C	C	T	rs149877815		TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:135076256C>T	ENST00000409645.1	+	5	771	c.519C>T	c.(517-519)taC>taT	p.Y173Y	MGAT5_ENST00000281923.2_Silent_p.Y173Y			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	173					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	p.Y173Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		ATCCCTGCTACGCAGACTATG	0.502000													52	173					0	0	0.014410	0	0
VAT1L	57687	broad.mit.edu	37	16	77918564	77918564	+	Silent	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr16:77918564G>C	ENST00000302536.2	+	7	1095	c.942G>C	c.(940-942)gcG>gcC	p.A314A		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	314							oxidoreductase activity|zinc ion binding	p.A314A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AAGTCATCGCGGGGTTTTCCC	0.498000													4	7					0	0	0.009096	0	0
PNPLA1	285848	broad.mit.edu	37	6	36269736	36269736	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:36269736C>A	ENST00000394571.2	+	6	874	c.874C>A	c.(874-876)Cgc>Agc	p.R292S	PNPLA1_ENST00000388715.3_Missense_Mutation_p.R197S|PNPLA1_ENST00000312917.5_Missense_Mutation_p.R206S	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	292					lipid catabolic process		hydrolase activity	p.R292S(1)|p.R197S(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GTGCCCTGAACGCAGTCAACC	0.547000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	34					7.93312e-07	9.9164e-07	0.020292	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599576	136599576	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr6:136599576G>T	ENST00000531224.1	-	4	695	c.443C>A	c.(442-444)tCc>tAc	p.S148Y	BCLAF1_ENST00000527536.1_Missense_Mutation_p.S148Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S146Y|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S146Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S148Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S146Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	148	Poly-Ser.				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.S148Y(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GCTATATGGGGATGAAGAACG	0.433000													51	241					2.0833e-19	3.34219e-19	0.014410	1	0
PCLO	27445	broad.mit.edu	37	7	82544816	82544816	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:82544816C>A	ENST00000423517.2	-	7	12823	c.12486G>T	c.(12484-12486)gaG>gaT	p.E4162D	PCLO_ENST00000333891.8_Missense_Mutation_p.E4162D|PCLO_ENST00000437081.1_Missense_Mutation_p.E882D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4093					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E4162D(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTATACTTCTCAGATTTTG	0.388000													24	87					5.49717e-05	6.41693e-05	0.018920	1	0
PDE8B	8622	broad.mit.edu	37	5	76715644	76715644	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr5:76715644G>C	ENST00000264917.5	+	19	2227	c.2182G>C	c.(2182-2184)Gag>Cag	p.E728Q	PDE8B_ENST00000340978.3_Missense_Mutation_p.E681Q|PDE8B_ENST00000346042.3_Missense_Mutation_p.E631Q|PDE8B_ENST00000505283.1_Missense_Mutation_p.E193Q|PDE8B_ENST00000342343.4_Missense_Mutation_p.E708Q|PDE8B_ENST00000333194.4_Missense_Mutation_p.E673Q	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	728	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.E728Q(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TTTGGCAACAGAGATGACAAA	0.433000													36	55					0	0	0.017118	0	0
DCST1	149095	broad.mit.edu	37	1	155011919	155011919	+	Silent	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:155011919C>A	ENST00000295542.1	+	5	399	c.303C>A	c.(301-303)cgC>cgA	p.R101R	DCST1_ENST00000423025.2_Silent_p.R76R|DCST1_ENST00000368419.2_Silent_p.R101R|DCST1_ENST00000392480.1_Silent_p.R101R	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	101						integral to membrane	zinc ion binding	p.C102G(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CTCACATCCGCTGTGCCAGCC	0.612000													19	85					4.96729e-08	6.65262e-08	0.008871	1	0
MRPS23	51649	broad.mit.edu	37	17	55917173	55917173	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr17:55917173C>A	ENST00000313608.8	-	5	589	c.544G>T	c.(544-546)Gac>Tac	p.D182Y		NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	182					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	p.D182Y(1)		endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					TTCGACTGGTCTGCAGGTGCC	0.483000													31	72					1.13719e-10	1.6481e-10	0.008361	1	0
NXF3	56000	broad.mit.edu	37	X	102334543	102334543	+	Silent	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chrX:102334543A>G	ENST00000395065.3	-	14	1289	c.1188T>C	c.(1186-1188)gaT>gaC	p.D396D	NXF3_ENST00000425644.1_Silent_p.D68D|NXF3_ENST00000497850.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	396	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.D396D(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TATTCCTGCTATCCTTGAAGA	0.512000													47	43					0	0	0.014410	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745899	77745899	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr2:77745899C>G	ENST00000409088.3	-	3	1510	c.1096G>C	c.(1096-1098)Gtc>Ctc	p.V366L	LRRTM4_ENST00000409911.1_Missense_Mutation_p.V367L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.V366L|LRRTM4_ENST00000409282.1_Missense_Mutation_p.V367L|LRRTM4_ENST00000409093.1_Missense_Mutation_p.V366L	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	366						integral to membrane		p.V366L(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCTGTGTTGACCACCTGGACT	0.468000													10	18					0	0	0.008291	0	0
LDHB	3945	broad.mit.edu	37	12	21807503	21807503	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr12:21807503C>A	ENST00000396076.1	-	2	435	c.103G>T	c.(103-105)Gcg>Tcg	p.A35S	LDHB_ENST00000350669.1_Missense_Mutation_p.A35S	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	35			A -> E (in LDHB deficiency).		glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	p.A35S(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	ATAGCACACGCCATACCAACT	0.428000													22	84					7.07758e-08	9.35363e-08	0.004656	1	0
TTC40	54777	broad.mit.edu	37	10	134627665	134627665	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr10:134627665T>A	ENST00000368586.5	-	54	7479	c.7379A>T	c.(7378-7380)cAc>cTc	p.H2460L	TTC40_ENST00000263170.5_Missense_Mutation_p.H621L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	621								p.H2460L(1)|p.H43L(1)|p.H621L(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCTGGGAAAGTGCTTGCTTCC	0.597000													8	28					0	0	0.006214	0	0
SLC6A5	9152	broad.mit.edu	37	11	20629074	20629074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:20629074C>A	ENST00000525748.1	+	5	1134	c.861C>A	c.(859-861)taC>taA	p.Y287*		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	287					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.Y287*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCATATACTACAATGTGATTA	0.443000													66	170					1.1794e-34	2.01035e-34	0.014410	1	0
MUM1L1	139221	broad.mit.edu	37	X	105449935	105449935	+	Silent	SNP	A	A	G			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chrX:105449935A>G	ENST00000337685.2	+	5	1295	c.510A>G	c.(508-510)caA>caG	p.Q170Q	MUM1L1_ENST00000372552.1_Silent_p.Q170Q|MUM1L1_ENST00000357175.2_Silent_p.Q170Q	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	170								p.Q170Q(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATAAATCACAAGCACCCACAA	0.423000													9	5					0	0	0.004482	0	0
GJA9	81025	broad.mit.edu	37	1	39340442	39340455	+	Frame_Shift_Del	DEL	GAGGTTACCTTTAG	GAGGTTACCTTTAG	-			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr1:39340442_39340455delGAGGTTACCTTTAG	ENST00000357771.3	-	2	1596_1609	c.1316_1329delCTAAAGGTAACCTC	c.(1315-1329)cfs	p.PKGNL439fs	RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000360786.3_Frame_Shift_Del_p.PKGNL439fs|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000454994.2_Splice_Site_p.439_splice|RP5-864K19.4_ENST00000443161.1_RNA	NM_030772.4	NP_110399.2	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	439					cell communication	connexon complex|integral to membrane		p.G441V(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ACTGGCCCTTGAGGTTACCTTTAGGAGGTGACCC	0.500													46	77	---	---	---	---					
IGF2R	3482	broad.mit.edu	37	6	160464271	160464271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr6:160464271delG	ENST00000356956.1	+	12	1720	c.1572delG	c.(1570-1572)cafs	p.Q524fs		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	524					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GAGTGCTGCAGGAAGGCAAGG	0.502													19	105	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241029	131241030	+	In_Frame_Ins	INS	-	-	GGCGAC	rs11277659	by1000genomes	TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:131241029_131241030insGGCGAC	ENST00000541194.1	-	1	346_347	c.89_90insGTCGCC	c.(88-90)ctc>cGTCGCCtc	p.29_30insRR	PODXL_ENST00000322985.9_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000378555.3_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Ins_p.29_30insRR	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	29					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTGGGAGggcgacggcga	0.752													4	6	---	---	---	---					
TRBV7-1	28597	broad.mit.edu	37	7	142032162	142032163	+	RNA	DEL	GA	GA	-			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr7:142032162_142032163delGA	ENST00000547918.2	+	0	82																											atgtgtgtgtgAGAGAGAGAGA	0.505													5	9	---	---	---	---					
TRIM49C	642612	broad.mit.edu	37	11	89806220	89806220	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chr11:89806220delG	ENST00000432771.1	+	8	1332	c.1003delG	c.(1003-1005)gcfs	p.G335fs				P0CI26	T49L2_HUMAN	tripartite motif containing 49C	339	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						CTTCTCCTCTGGCAAACACTA	0.473													7	27	---	---	---	---					
CNKSR2	22866	broad.mit.edu	37	X	21534749	21534749	+	Splice_Site	DEL	G	G	-			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	34fbd6c1-3d26-4969-91d2-ff8f1f1598b6	g.chrX:21534749delG	ENST00000425654.2	+	9	1437	c.957_splice	c.e9+1	p.Q319_splice	CNKSR2_ENST00000279451.4_Splice_Site_p.Q319_splice|CNKSR2_ENST00000379510.3_Splice_Site_p.Q319_splice|CNKSR2_ENST00000543067.1_Intron	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	319					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TTGCTCTGCAGGTAATGAAGC	0.398													23	28	---	---	---	---					
GJA9	81025	broad.mit.edu	37	1	39340442	39340455	+	Frame_Shift_Del	DEL	GAGGTTACCTTTAG	GAGGTTACCTTTAG	-			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:39340442_39340455delGAGGTTACCTTTAG	ENST00000357771.3	-	2	1596_1609	c.1316_1329delCTAAAGGTAACCTC	c.(1315-1329)cfs	p.PKGNL439fs	RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000454994.2_Splice_Site_p.439_splice|GJA9_ENST00000360786.3_Frame_Shift_Del_p.PKGNL439fs|MYCBP_ENST00000489803.1_5'UTR	NM_030772.4	NP_110399.2	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	439					cell communication	connexon complex|integral to membrane		p.G441V(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ACTGGCCCTTGAGGTTACCTTTAGGAGGTGACCC	0.500													46	77	---	---	---	---					
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				4	9	---	---	---	---					
CCT6P1	643253	broad.mit.edu	37	7	65226569	65226569	+	RNA	DEL	T	T	-			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr7:65226569delT	ENST00000442266.1	+	0	1167																											gcccggccCCttttttttttt	0.413													3	6	---	---	---	---					
TRIM49C	642612	broad.mit.edu	37	11	89806220	89806220	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chr11:89806220delG	ENST00000432771.1	+	8	1332	c.1003delG	c.(1003-1005)gcfs	p.G335fs				P0CI26	T49L2_HUMAN	tripartite motif containing 49C	339	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						CTTCTCCTCTGGCAAACACTA	0.473													7	27	---	---	---	---					
CNKSR2	22866	broad.mit.edu	37	X	21534749	21534749	+	Splice_Site	DEL	G	G	-			TCGA-44-6144-01A-11D-1753-08	TCGA-44-6144-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f19575fd-eb9d-429f-96ce-c0e8f4bbc593	720c7163-de09-49c2-a6a9-36b1effe8203	g.chrX:21534749delG	ENST00000425654.2	+	9	1437	c.957_splice	c.e9+1	p.Q319_splice	CNKSR2_ENST00000379510.3_Splice_Site_p.Q319_splice|CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000279451.4_Splice_Site_p.Q319_splice	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	319					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TTGCTCTGCAGGTAATGAAGC	0.398													23	28	---	---	---	---					
