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
MAGED2	10916	broad.mit.edu	37	X	54837315	54837315	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:54837315C>T	ENST00000375068.1	+	4	832	c.599C>T	c.(598-600)aCa>aTa	p.T200I	MAGED2_ENST00000375060.1_Missense_Mutation_p.T162I|MAGED2_ENST00000347546.3_Missense_Mutation_p.T144I|MAGED2_ENST00000375053.2_Missense_Mutation_p.T200I|MAGED2_ENST00000375058.1_Missense_Mutation_p.T200I|MAGED2_ENST00000396224.1_Missense_Mutation_p.T200I|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000375062.4_Missense_Mutation_p.T162I|MAGED2_ENST00000343474.6_Missense_Mutation_p.T182I|MAGED2_ENST00000218439.4_Missense_Mutation_p.T200I			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	200										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						TCTGGAACCACAGGTGGCCGA	0.577000													9	29					0	0	0.008291	0	0
FBLN7	129804	broad.mit.edu	37	2	112944812	112944812	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:112944812C>T	ENST00000331203.2	+	8	1320	c.1049C>T	c.(1048-1050)aCg>aTg	p.T350M	FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Missense_Mutation_p.T216M|FBLN7_ENST00000409450.3_Missense_Mutation_p.T304M	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	350					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AACCTGAAGACGCCCATCACG	0.657000													8	162					0	0	0.006214	0	0
CLSTN2	64084	broad.mit.edu	37	3	140167426	140167426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:140167426C>A	ENST00000458420.3	+	6	1043	c.853C>A	c.(853-855)Ctg>Atg	p.L285M		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	285					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAGCATCCACCTGGAGACGTG	0.532000										HNSCC(16;0.037)			46	93					6.61955e-31	1.23735e-30	0.003610	1	0
OR14I1	401994	broad.mit.edu	37	1	248845249	248845249	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:248845249G>T	ENST00000342623.3	-	1	380	c.357C>A	c.(355-357)gaC>gaA	p.D119E		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CAACATAGCGGTCATAAGACA	0.502000													33	21					8.53417e-09	1.13323e-08	0.002836	1	0
DSCAM	1826	broad.mit.edu	37	21	41710051	41710051	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr21:41710051T>C	ENST00000400454.1	-	8	2237	c.1760A>G	c.(1759-1761)cAg>cGg	p.Q587R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	587	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTGGACGCTCTGGCTGGTGGA	0.507000													22	87					0	0	0.003330	0	0
ZNF43	7594	broad.mit.edu	37	19	21992268	21992268	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:21992268G>A	ENST00000594012.1	-	7	1067	c.553C>T	c.(553-555)Caa>Taa	p.Q185*	ZNF43_ENST00000598381.1_Nonsense_Mutation_p.Q185*|ZNF43_ENST00000595461.1_Nonsense_Mutation_p.Q185*|ZNF43_ENST00000354959.4_Nonsense_Mutation_p.Q191*	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATTTTATGTTGAGCTAGATGT	0.303000													11	14					0	0	0.008291	0	0
ZNF623	9831	broad.mit.edu	37	8	144733134	144733134	+	Silent	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr8:144733134G>A	ENST00000501748.2	+	1	1181	c.1092G>A	c.(1090-1092)caG>caA	p.Q364Q	ZNF623_ENST00000458270.2_Silent_p.Q324Q|ZNF623_ENST00000526926.1_Silent_p.Q324Q	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACTTCACCCAGCATCAGAGAA	0.458000													16	51					0	0	0.004007	0	0
RYR3	6263	broad.mit.edu	37	15	34064229	34064229	+	Silent	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr15:34064229G>A	ENST00000389232.4	+	63	8995	c.8925G>A	c.(8923-8925)aaG>aaA	p.K2975K	RYR3_ENST00000415757.3_Silent_p.K2975K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2975					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.K2975N(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACTTGGGAAGTTCACCCATT	0.468000													10	13					0	0	0.006214	0	0
SLC6A7	6534	broad.mit.edu	37	5	149574475	149574475	+	Splice_Site	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:149574475G>T	ENST00000230671.2	+	2	588		c.e2+1		SLC6A7_ENST00000524041.1_Splice_Site	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7							integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	AATGGAGGAGGTATGGGCCTG	0.602000													20	74					4.54149e-19	7.93943e-19	0.002299	1	0
GALNT6	11226	broad.mit.edu	37	12	51759270	51759270	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr12:51759270C>G	ENST00000543196.2	-	4	963	c.758G>C	c.(757-759)cGg>cCg	p.R253P	GALNT6_ENST00000356317.3_Missense_Mutation_p.R253P			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	253	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCCCAGCAGCCGGGCGGTGAT	0.657000													18	40					0	0	0.006122	0	0
KIFC2	90990	broad.mit.edu	37	8	145694127	145694127	+	Silent	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr8:145694127C>T	ENST00000301332.2	+	10	1400	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	KIFC2_ENST00000301331.5_Silent_p.A89A	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	341					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CACGGATGGCCAGCCTGCGTC	0.662000													45	141					0	0	0.003610	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139897	40139897	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr22:40139897G>T	ENST00000325157.6	-	7	1861	c.1611C>A	c.(1609-1611)gaC>gaA	p.D537E		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	537										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCTGGGGGAAGTCTTTGGTTG	0.438000													18	21					5.3912e-06	6.45351e-06	0.006122	1	0
BRCC3	79184	broad.mit.edu	37	X	154348318	154348318	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:154348318C>T	ENST00000369462.1	+	11	869	c.844C>T	c.(844-846)Cct>Tct	p.P282S	BRCC3_ENST00000330045.7_Missense_Mutation_p.P257S|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_Missense_Mutation_p.P213S|BRCC3_ENST00000399042.1_Missense_Mutation_p.P283S|BRCC3_ENST00000340647.4_Missense_Mutation_p.P258S	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	282					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.P282S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGTCAGCGGGCCTCTCCTACA	0.428000													22	50					0	0	0.001882	0	0
OR52W1	120787	broad.mit.edu	37	11	6220734	6220734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr11:6220734C>A	ENST00000311352.2	+	1	359	c.281C>A	c.(280-282)cCc>cAc	p.P94H		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTTGGGCCCCGATCTGTG	0.562000													13	21					4.36969e-10	6.1025e-10	0.001855	1	0
ZNF827	152485	broad.mit.edu	37	4	146791525	146791525	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr4:146791525C>T	ENST00000508784.1	-	5	2080	c.1853G>A	c.(1852-1854)aGc>aAc	p.S618N	ZNF827_ENST00000379448.4_Missense_Mutation_p.S618N|ZNF827_ENST00000513320.1_Missense_Mutation_p.S268N|ZNF827_ENST00000511534.1_5'UTR			Q17R98	ZN827_HUMAN	zinc finger protein 827	618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGATTCCGGGCTGAACACATA	0.522000													4	82					0	0	0.000602	0	0
DOCK10	55619	broad.mit.edu	37	2	225658144	225658144	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:225658144G>A	ENST00000409592.3	-	46	5280	c.5167C>T	c.(5167-5169)Ctc>Ttc	p.L1723F	DOCK10_ENST00000258390.7_Missense_Mutation_p.L1729F			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1729	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCTGCAATGAGAGCAGCAATA	0.383000													6	62					0	0	0.001984	0	0
PCDH17	27253	broad.mit.edu	37	13	58299398	58299398	+	Silent	SNP	G	G	T	rs141868878		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr13:58299398G>T	ENST00000377918.3	+	4	3476	c.3450G>T	c.(3448-3450)cgG>cgT	p.R1150R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1150					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AAGACTGCCGGGGAAACGACC	0.443000													57	92					4.17463e-26	7.62733e-26	0.003610	1	0
SATB1	6304	broad.mit.edu	37	3	18457572	18457572	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:18457572C>A	ENST00000338745.6	-	4	2176	c.442G>T	c.(442-444)Gcc>Tcc	p.A148S	SATB1_ENST00000454909.2_Missense_Mutation_p.A148S|SATB1_ENST00000417717.2_Missense_Mutation_p.A148S|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'UTR	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	148	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCATCAGGGGCATCTGTCACG	0.408000													19	41					3.32936e-07	4.17028e-07	0.006122	1	0
ARHGEF1	9138	broad.mit.edu	37	19	42392303	42392303	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:42392303G>T	ENST00000599846.1	+	3	190	c.65G>T	c.(64-66)aGc>aTc	p.S22I	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.S22I|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.S37I|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.S22I|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.S37I|ARHGEF1_ENST00000596957.1_Intron			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	22					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GTTCCCGTCAGCATCATCGGG	0.632000													45	138					1.67211e-32	3.19939e-32	0.003610	1	0
NDUFB10	4716	broad.mit.edu	37	16	2011497	2011497	+	Splice_Site	SNP	G	G	A	rs113652159		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr16:2011497G>A	ENST00000543683.2	+	3	351		c.e3-1		NDUFB10_ENST00000268668.6_Splice_Site|NDUFB10_ENST00000569148.1_Splice_Site			O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	TTCTCCACCAGCAAAGTCGAC	0.488000													5	206					0	0	0.000602	0	0
TSIX	9383	broad.mit.edu	37	X	73042602	73042602	+	RNA	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:73042602C>A	ENST00000604411.1	+	0	30563				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TCATCTTCATCAATACTCGTA	0.333000													14	42					0.000219431	0.000249167	0.002450	1	0
POLR2J4	84820	broad.mit.edu	37	7	44005995	44005995	+	RNA	SNP	C	C	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:44005995C>G	ENST00000427076.1	-	0	1200					NR_003655.2																						TCTTCATGATCTGCCCAGAGG	0.627000													17	27					0	0	0.002780	0	0
WDR41	55255	broad.mit.edu	37	5	76736805	76736805	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:76736805C>T	ENST00000296679.4	-	9	1090	c.715G>A	c.(715-717)Ggc>Agc	p.G239S	WDR41_ENST00000507029.1_Missense_Mutation_p.G184S|WDR41_ENST00000414719.2_5'UTR	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	239										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		ACGTGGGAGCCGGTGACAAAA	0.463000													6	49					0	0	0.001984	0	0
BZRAP1	9256	broad.mit.edu	37	17	56389964	56389964	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr17:56389964G>A	ENST00000355701.3	-	17	3088	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	BZRAP1_ENST00000343736.4_Missense_Mutation_p.P740S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P680S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	740						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGAGTTCAGGGCCTGAGCTG	0.607000													27	39					0	0	0.008361	0	0
NDUFS1	4719	broad.mit.edu	37	2	207012264	207012264	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:207012264C>G	ENST00000233190.5	-	7	808	c.542G>C	c.(541-543)cGc>cCc	p.R181P	NDUFS1_ENST00000449699.1_Missense_Mutation_p.R181P|NDUFS1_ENST00000455934.2_Missense_Mutation_p.R195P|NDUFS1_ENST00000457011.1_Missense_Mutation_p.R65P|NDUFS1_ENST00000432169.1_Missense_Mutation_p.R70P|NDUFS1_ENST00000423725.1_Missense_Mutation_p.R124P|NDUFS1_ENST00000440274.1_Missense_Mutation_p.R145P	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	181					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	CCTGATGCAGCGAGTACACTG	0.348000													9	21					0	0	0.004482	0	0
APOE	348	broad.mit.edu	37	19	45412386	45412386	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:45412386G>T	ENST00000252486.4	+	4	944	c.833G>T	c.(832-834)cGc>cTc	p.R278L		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	278					anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TTCCAGGCCCGCCTCAAGAGC	0.706000													9	9					3.09899e-07	3.90183e-07	0.004482	1	0
NPAP1	23742	broad.mit.edu	37	15	24923786	24923786	+	Silent	SNP	A	A	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr15:24923786A>T	ENST00000329468.2	+	1	3246	c.2772A>T	c.(2770-2772)ccA>ccT	p.P924P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCCCAGCACCAGTTATAGGCT	0.478000													33	87					0	0	0.002445	0	0
CASC3	22794	broad.mit.edu	37	17	38318122	38318122	+	Silent	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr17:38318122C>T	ENST00000264645.7	+	4	640	c.414C>T	c.(412-414)acC>acT	p.T138T		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	138	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGCCTGACACCAAAAGCACTG	0.443000													5	40					0	0	0.000602	0	0
LRP1B	53353	broad.mit.edu	37	2	141625201	141625201	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:141625201G>T	ENST00000389484.3	-	27	5508	c.4537C>A	c.(4537-4539)Cca>Aca	p.P1513T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1513					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGTCAAATGGCTGTGCACTG	0.448000										TSP Lung(27;0.18)			25	86					4.26978e-12	6.25034e-12	0.003330	1	0
SLC9A6	10479	broad.mit.edu	37	X	135095108	135095108	+	Splice_Site	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:135095108G>T	ENST00000370695.4	+	8	1077	c.1041_splice	c.e8-1	p.V348_splice	SLC9A6_ENST00000370701.1_Splice_Site_p.V296_splice|SLC9A6_ENST00000370698.3_Splice_Site_p.V316_splice	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	316					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ACAGTCTTACGTGACAAAGTT	0.423000													56	147					5.19286e-32	9.85832e-32	0.003610	1	0
SNTG1	54212	broad.mit.edu	37	8	51571204	51571204	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr8:51571204T>C	ENST00000522124.1	+	15	1680	c.1019T>C	c.(1018-1020)aTt>aCt	p.I340T	SNTG1_ENST00000276467.5_Missense_Mutation_p.I340T|SNTG1_ENST00000518864.1_Missense_Mutation_p.I340T|SNTG1_ENST00000517473.1_Missense_Mutation_p.I340T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	340	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTTTATGAGATTATGTGCAAG	0.358000													19	41					0	0	0.003330	0	0
NBAS	51594	broad.mit.edu	37	2	15523386	15523386	+	Missense_Mutation	SNP	T	T	C	rs142327626		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:15523386T>C	ENST00000281513.5	-	29	3338	c.3313A>G	c.(3313-3315)Atg>Gtg	p.M1105V	NBAS_ENST00000441750.1_Missense_Mutation_p.M985V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1105										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCTGCTGCATAGTTAACATG	0.358000													18	73					0	0	0.001882	0	0
TIAM1	7074	broad.mit.edu	37	21	32624131	32624131	+	Silent	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr21:32624131C>T	ENST00000286827.3	-	6	1809	c.1338G>A	c.(1336-1338)ctG>ctA	p.L446L	TIAM1_ENST00000541036.1_Silent_p.L446L|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	446	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTTGTGCACCAGGAAGTTCT	0.652000													27	109					0	0	0.002445	0	0
LAMP2	3920	broad.mit.edu	37	X	119573053	119573053	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:119573053C>T	ENST00000371335.4	-	9	1325	c.1189G>A	c.(1189-1191)Gta>Ata	p.V397I	LAMP2_ENST00000540603.1_Missense_Mutation_p.V350I|LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000200639.4_Intron|LAMP2_ENST00000538785.1_Intron	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	397					platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		p.V397I(1)		endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CTGCCAATTACGTAAGCAATC	0.383000													11	110					0	0	0.008291	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170173	107170173	+	RNA	SNP	C	C	A	rs150196675	by1000genomes	TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr14:107170173C>A	ENST00000390633.2	-	0	169																											GAGACCTTCACCGAGGACCCA	0.582000													42	76					5.44703e-19	9.38743e-19	0.002222	1	0
PHKA1	5255	broad.mit.edu	37	X	71838660	71838660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:71838660G>A	ENST00000373545.3	-	20	2530	c.2092C>T	c.(2092-2094)Cag>Tag	p.Q698*	PHKA1_ENST00000373539.3_Nonsense_Mutation_p.Q757*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.Q757*|PHKA1_ENST00000541944.1_Nonsense_Mutation_p.Q698*|PHKA1_ENST00000373542.4_Nonsense_Mutation_p.Q757*			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	757					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TCCCCAGACTGGTCTCTAGGA	0.388000													27	79					0	0	0.006320	0	0
HEXA	3073	broad.mit.edu	37	15	72637811	72637811	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr15:72637811G>A	ENST00000268097.5	-	13	2005	c.1502C>T	c.(1501-1503)tCa>tTa	p.S501L	HEXA_ENST00000567159.1_Missense_Mutation_p.S501L|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.S512L|HEXA_ENST00000457859.2_3'UTR|RP11-106M3.3_ENST00000570175.1_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	501					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GCGGAAGTGTGACAAACGTTC	0.562000													23	45					0	0	0.002780	0	0
DDX60L	91351	broad.mit.edu	37	4	169377304	169377304	+	Splice_Site	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr4:169377304C>A	ENST00000511577.1	-	7	971		c.e7-1		DDX60L_ENST00000505890.1_Splice_Site|DDX60L_ENST00000260184.7_Splice_Site			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like								ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCTGATACGCCTATCAAAAAA	0.348000													5	9					0.000602214	0.000674369	0.000602	1	0
ZNF383	163087	broad.mit.edu	37	19	37733742	37733742	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:37733742G>T	ENST00000589413.1	+	8	1187	c.604G>T	c.(604-606)Gag>Tag	p.E202*	ZNF383_ENST00000590503.1_Nonsense_Mutation_p.E202*|ZNF383_ENST00000352998.3_Nonsense_Mutation_p.E202*			Q8NA42	ZN383_HUMAN	zinc finger protein 383	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAATGTAAAGAGTGTGGGAA	0.358000													33	35					4.15321e-07	5.17554e-07	0.001786	1	0
LPHN3	23284	broad.mit.edu	37	4	62849295	62849295	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr4:62849295C>G	ENST00000512091.1	+	18	3753	c.3006C>G	c.(3004-3006)gaC>gaG	p.D1002E	LPHN3_ENST00000506720.1_Missense_Mutation_p.D1070E|LPHN3_ENST00000504896.1_Missense_Mutation_p.D1002E|LPHN3_ENST00000508946.1_Missense_Mutation_p.D1002E|LPHN3_ENST00000508693.1_Missense_Mutation_p.D1070E|LPHN3_ENST00000507625.1_Missense_Mutation_p.D1070E|LPHN3_ENST00000545650.1_Missense_Mutation_p.D1002E|LPHN3_ENST00000514157.1_Missense_Mutation_p.D1002E|LPHN3_ENST00000509896.1_Missense_Mutation_p.D1070E|LPHN3_ENST00000507164.1_Missense_Mutation_p.D1070E|LPHN3_ENST00000506700.1_Missense_Mutation_p.D1002E|LPHN3_ENST00000511324.1_Missense_Mutation_p.D1070E|LPHN3_ENST00000514591.1_Missense_Mutation_p.D1002E|LPHN3_ENST00000506746.1_Missense_Mutation_p.D1070E|LPHN3_ENST00000514996.1_Missense_Mutation_p.D1002E			Q9HAR2	LPHN3_HUMAN	latrophilin 3	989					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTGCAGTAGACTACAGGAGTT	0.393000													39	91					0	0	0.007835	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102465308	102465308	+	Silent	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:102465308C>T	ENST00000321521.9	+	2	588	c.15C>T	c.(13-15)ccC>ccT	p.P5P	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Silent_p.P5P|PPIP5K2_ENST00000414217.1_Silent_p.P5P			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	5					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTGAAGCCCCCAGATTCTTCG	0.343000													8	7					0	0	0.003080	0	0
LSG1	55341	broad.mit.edu	37	3	194390774	194390774	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:194390774C>A	ENST00000265245.5	-	2	504	c.190G>T	c.(190-192)Gct>Tct	p.A64S		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	64					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TCTGCAGTAGCAAGGAAGTCA	0.438000													23	60					1.28384e-07	1.63337e-07	0.001882	1	0
LRP1B	53353	broad.mit.edu	37	2	141081510	141081510	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:141081510C>G	ENST00000389484.3	-	81	13437	c.12466G>C	c.(12466-12468)Gat>Cat	p.D4156H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4156					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTGTTTTATCAATATTTAAA	0.269000										TSP Lung(27;0.18)			16	64					0	0	0.004007	0	0
MAGED1	9500	broad.mit.edu	37	X	51638238	51638238	+	Silent	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:51638238C>A	ENST00000375695.2	+	4	456	c.303C>A	c.(301-303)gcC>gcA	p.A101A	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Silent_p.A45A|MAGED1_ENST00000375772.3_Silent_p.A45A|MAGED1_ENST00000326587.7_Silent_p.A45A	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	45					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTAACCAGGCCACCGCAGCTG	0.562000										Multiple Myeloma(10;0.10)			12	40					0.000151284	0.000172592	0.001855	1	0
TGS1	96764	broad.mit.edu	37	8	56699163	56699163	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr8:56699163G>T	ENST00000260129.5	+	4	1183	c.706G>T	c.(706-708)Gaa>Taa	p.E236*		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	236					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TACAAAGGAAGAATGGGAGCA	0.408000													29	91					2.47511e-08	3.25109e-08	0.008361	1	0
ITGB1BP2	26548	broad.mit.edu	37	X	70524814	70524814	+	Splice_Site	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:70524814G>C	ENST00000538820.1	+	10	1102		c.e10-1		ITGB1BP2_ENST00000373829.3_Splice_Site			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2						muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					CTCCTCCTCAGGTCATAAACG	0.498000													17	39					0	0	0.004990	0	0
SORCS1	114815	broad.mit.edu	37	10	108337311	108337311	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:108337311C>A	ENST00000369698.1	-	19	2266	c.2140G>T	c.(2140-2142)Gag>Tag	p.E714*	SORCS1_ENST00000263054.6_Missense_Mutation_p.R1125I|SORCS1_ENST00000344440.6_Intron			Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	0						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TAAAGCTACTCTCCTAAGAGA	0.488000													20	74					3.99206e-14	6.25852e-14	0.007413	1	0
POMGNT1	55624	broad.mit.edu	37	1	46654920	46654920	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:46654920C>A	ENST00000371992.1	-	22	2629	c.1979G>T	c.(1978-1980)gGg>gTg	p.G660V	POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_3'UTR|POMGNT1_ENST00000371986.3_Missense_Mutation_p.G660V|POMGNT1_ENST00000535522.1_3'UTR	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	652					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GTACCCAGCCCCGCAGGGTCC	0.597000													26	45					1.42536e-11	2.06168e-11	0.004656	1	0
ABCA13	154664	broad.mit.edu	37	7	48619942	48619942	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:48619942G>T	ENST00000435803.1	+	56	14501	c.14477G>T	c.(14476-14478)cGc>cTc	p.R4826L	ABCA13_ENST00000544596.1_Missense_Mutation_p.R556L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4826	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTAGCTTACGCGGGATTCCA	0.547000													5	14					0.000602214	0.000674369	0.000602	1	0
C7	730	broad.mit.edu	37	5	40955608	40955608	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:40955608G>T	ENST00000313164.9	+	10	1572	c.1213G>T	c.(1213-1215)Gcc>Tcc	p.A405S		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	405	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GCGATATTCTGCCTGGGCAGA	0.448000													77	83					2.43199e-30	4.51125e-30	0.003610	1	0
JMJD1C	221037	broad.mit.edu	37	10	64974626	64974626	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:64974626C>T	ENST00000399262.2	-	8	1519	c.1301G>A	c.(1300-1302)tGg>tAg	p.W434*	JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.W252*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.W215*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.W215*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	434					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TATTTGATCCCAGGGAGGCTG	0.368000													16	58					0	0	0.003163	0	0
MARCH7	64844	broad.mit.edu	37	2	160604822	160604822	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:160604822G>T	ENST00000259050.3	+	5	1143	c.1021G>T	c.(1021-1023)Gca>Tca	p.A341S	MARCH7_ENST00000409591.1_Missense_Mutation_p.A303S|MARCH7_ENST00000409175.1_Missense_Mutation_p.A341S|MARCH7_ENST00000539065.1_Missense_Mutation_p.A285S	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	341	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						CGATAATAGGGCATCTGAAGC	0.398000													12	51					4.3838e-07	5.42791e-07	0.001855	1	0
HCFC1	3054	broad.mit.edu	37	X	153229610	153229610	+	Silent	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:153229610G>T	ENST00000310441.7	-	3	1434	c.468C>A	c.(466-468)gcC>gcA	p.A156A	HCFC1_ENST00000369984.4_Silent_p.A156A|HCFC1_ENST00000354233.3_Silent_p.A156A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	156					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTATCATTGGCCAGACCCC	0.572000													40	86					3.61848e-18	6.06407e-18	0.007835	1	0
SLC8A3	6547	broad.mit.edu	37	14	70634693	70634693	+	Silent	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr14:70634693G>T	ENST00000381269.2	-	2	1200	c.447C>A	c.(445-447)ctC>ctA	p.L149L	SLC8A3_ENST00000528359.1_Silent_p.L149L|SLC8A3_ENST00000356921.2_Silent_p.L149L|SLC8A3_ENST00000357887.3_Silent_p.L149L|SLC8A3_ENST00000534137.1_Silent_p.L149L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	149					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTAAAGAGAGGAGTATCTCAG	0.488000													19	43					1.40151e-16	2.27045e-16	0.001523	1	0
MBNL3	55796	broad.mit.edu	37	X	131524889	131524889	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:131524889C>A	ENST00000538204.1	-	4	672	c.607G>T	c.(607-609)Gct>Tct	p.A203S	RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000370844.1_Missense_Mutation_p.A157S|MBNL3_ENST00000370849.3_Missense_Mutation_p.A203S|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370839.3_Missense_Mutation_p.A253S|MBNL3_ENST00000394311.2_Missense_Mutation_p.A157S|MBNL3_ENST00000370857.3_Missense_Mutation_p.A253S|MBNL3_ENST00000370853.3_Missense_Mutation_p.A253S	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	253					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					GCAGAGGCAGCTGAATGGTTC	0.458000													38	74					4.0492e-12	6.0738e-12	0.006999	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125285017	125285017	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:125285017T>C	ENST00000431078.1	+	10	1994	c.1630T>C	c.(1630-1632)Tgt>Cgt	p.C544R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	544	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATTGATCTGTGTAGCATCAA	0.408000													32	86					0	0	0.001786	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21897289	21897289	+	Splice_Site	SNP	A	A	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr18:21897289A>T	ENST00000319481.3	-	10	1013		c.e10+1			NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A						cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CATAATACTTACTGTTTCCTA	0.299000													28	80					0	0	0.006320	0	0
UBR2	23304	broad.mit.edu	37	6	42541664	42541664	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr6:42541664C>G	ENST00000372899.1	+	2	529	c.271C>G	c.(271-273)Caa>Gaa	p.Q91E	UBR2_ENST00000372903.2_Missense_Mutation_p.Q91E|UBR2_ENST00000372901.1_Missense_Mutation_p.Q91E	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	91					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAAACTTGAGCAAGCAAACAA	0.398000													26	65					0	0	0.005443	0	0
DOCK10	55619	broad.mit.edu	37	2	225659622	225659622	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:225659622G>A	ENST00000409592.3	-	45	5223	c.5110C>T	c.(5110-5112)Cat>Tat	p.H1704Y	DOCK10_ENST00000258390.7_Missense_Mutation_p.H1710Y			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1710	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTTCTGGCATGAATCTTGGCC	0.473000													15	112					0	0	0.003163	0	0
NPY2R	4887	broad.mit.edu	37	4	156136042	156136042	+	Silent	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr4:156136042C>T	ENST00000329476.3	+	2	1440	c.951C>T	c.(949-951)tcC>tcT	p.S317S	NPY2R_ENST00000506608.1_Silent_p.S317S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	317					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCATGTGCTCCACTTTTGCCA	0.522000													24	54					0	0	0.004656	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834657	27834657	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr6:27834657C>G	ENST00000331442.3	-	1	702	c.651G>C	c.(649-651)aaG>aaC	p.K217N		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	217				Missing (in Ref. 5; AA sequence).	nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCTTCTTGGCCTTTGCAGCTT	0.527000													17	24					0	0	0.004990	0	0
SEPT6	23157	broad.mit.edu	37	X	118763453	118763453	+	Missense_Mutation	SNP	G	G	T	rs150468538		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:118763453G>T	ENST00000394610.1	-	9	1372	c.1108C>A	c.(1108-1110)Cgt>Agt	p.R370S	SEPT6_ENST00000360156.7_Missense_Mutation_p.R370S|SEPT6_ENST00000394617.2_Missense_Mutation_p.R400S|SEPT6_ENST00000354228.4_Missense_Mutation_p.R370S|SEPT6_ENST00000489216.1_Missense_Mutation_p.R370S|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000354416.3_Missense_Mutation_p.R370S|SEPT6_ENST00000394616.4_Missense_Mutation_p.R312S|SEPT6_ENST00000343984.5_Missense_Mutation_p.R370S	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	370					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TTCTTCAGACGGTCAAACTTC	0.542000			T	MLL	AML								19	61					1.00905e-13	1.56177e-13	0.008871	1	0
SPTA1	6708	broad.mit.edu	37	1	158623215	158623215	+	Splice_Site	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:158623215C>A	ENST00000368148.3	-	22	3217	c.3036_splice	c.e22-1	p.D1013_splice	SPTA1_ENST00000368147.3_Splice_Site_p.D1013_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1013	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCCACCAGTCCTGAAGGGAG	0.532000													46	16					1.48646e-12	2.27176e-12	0.002522	1	0
CLPTM1L	81037	broad.mit.edu	37	5	1323018	1323018	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:1323018G>T	ENST00000320895.5	-	13	1546	c.1289C>A	c.(1288-1290)tCc>tAc	p.S430Y	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.S261Y|CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.S394Y	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	430					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GATTAACCAGGAGTACCAGCT	0.373000													82	85					9.72016e-57	1.92032e-56	0.003610	1	0
CTNNA2	1496	broad.mit.edu	37	2	80101282	80101282	+	Silent	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:80101282G>T	ENST00000466387.1	+	10	1390	c.666G>T	c.(664-666)acG>acT	p.T222T	CTNNA2_ENST00000496558.1_Silent_p.T222T|CTNNA2_ENST00000402739.4_Silent_p.T222T|CTNNA2_ENST00000361291.4_Silent_p.T256T|CTNNA2_ENST00000541047.1_Silent_p.T222T|CTNNA2_ENST00000540488.1_Silent_p.T222T			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	222					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGCTGTACACGGCCTCTCAAG	0.557000													10	43					7.48243e-07	9.09115e-07	0.006214	1	0
PCNXL2	80003	broad.mit.edu	37	1	233136268	233136268	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:233136268C>T	ENST00000258229.8	-	30	5345	c.5111G>A	c.(5110-5112)tGc>tAc	p.C1704Y	PCNXL2_ENST00000344698.2_Missense_Mutation_p.C356Y	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1704						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTCGTCAGGGCAAGTGAACTG	0.617000													8	17					0	0	0.003080	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987893	50987893	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr22:50987893C>A	ENST00000395676.2	+	1	1432	c.1298C>A	c.(1297-1299)cCa>cAa	p.P433Q		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	433										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGCGCGCCACTCCCCGCA	0.672000													47	71					4.00472e-15	6.36044e-15	0.003610	1	0
SLC9A4	389015	broad.mit.edu	37	2	103141571	103141571	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:103141571G>A	ENST00000295269.4	+	10	2364	c.1907G>A	c.(1906-1908)aGg>aAg	p.R636K		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	636					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AACACCTTAAGGGAGAGCATG	0.517000													43	127					0	0	0.008740	0	0
OR2A12	346525	broad.mit.edu	37	7	143792935	143792935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:143792935C>A	ENST00000408949.2	+	1	795	c.735C>A	c.(733-735)tgC>tgA	p.C245*		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CCCACCTCTGCGTGGTGGGGC	0.562000													61	91					5.86059e-21	1.04715e-20	0.003610	1	0
KIF15	56992	broad.mit.edu	37	3	44815917	44815917	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:44815917C>T	ENST00000326047.4	+	2	199	c.50C>T	c.(49-51)tCt>tTt	p.S17F		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	17					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AATGGTCAGTCTAACCAACCA	0.323000													12	7					0	0	0.001855	0	0
CDH9	1007	broad.mit.edu	37	5	26988295	26988295	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:26988295C>A	ENST00000231021.4	-	2	318	c.146G>T	c.(145-147)cGt>cTt	p.R49L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	49					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTGGTGCGACGTAGCATTTT	0.393000													15	45					2.32078e-09	3.18616e-09	0.003163	1	0
CDHR2	54825	broad.mit.edu	37	5	176012970	176012970	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:176012970C>A	ENST00000510636.1	+	20	3024	c.2750C>A	c.(2749-2751)aCc>aAc	p.T917N	CDHR2_ENST00000261944.5_Missense_Mutation_p.T917N|CDHR2_ENST00000506348.1_Missense_Mutation_p.T917N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	917	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTCCTCATTACCATTGAGGAC	0.522000													18	74					1.50039e-11	2.15737e-11	0.001882	1	0
LRP1B	53353	broad.mit.edu	37	2	141253245	141253245	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:141253245C>A	ENST00000389484.3	-	56	9894	c.8923G>T	c.(8923-8925)Ggc>Tgc	p.G2975C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2975	EGF-like 7.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGGGAAAGCCTGAAGAGCAT	0.433000										TSP Lung(27;0.18)			14	49					1.49906e-05	1.75977e-05	0.002450	1	0
ZNF674	641339	broad.mit.edu	37	X	46359636	46359636	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:46359636T>A	ENST00000523374.1	-	6	1598	c.1388A>T	c.(1387-1389)cAt>cTt	p.H463L	ZNF674_ENST00000414387.2_Missense_Mutation_p.H457L	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						CTCTCCTGTATGCATTCTCTG	0.423000													7	73					0	0	0.004482	0	0
MSLNL	401827	broad.mit.edu	37	16	830154	830154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr16:830154G>A	ENST00000293892.3	-	3	846	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	MSLNL_ENST00000442466.1_Nonsense_Mutation_p.Q16*			Q96KJ4	MSLNL_HUMAN	mesothelin-like	16					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCTGAGCTCTGCAGGGCACCT	0.697000													4	15					0	0	0.000248	0	0
ABCB5	340273	broad.mit.edu	37	7	20668317	20668317	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:20668317T>C	ENST00000404938.2	+	4	767	c.115T>C	c.(115-117)Ttt>Ctt	p.F39L		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	692	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCAGTTCCGCTTTGCTGATGG	0.473000													15	15					0	0	0.002450	0	0
PEG3	5178	broad.mit.edu	37	19	57328601	57328601	+	Silent	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:57328601C>A	ENST00000326441.9	-	10	1572	c.1209G>T	c.(1207-1209)tcG>tcT	p.S403S	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.S277S|PEG3_ENST00000598410.1_Silent_p.S279S|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.S403S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	403					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S403S(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GATCGTGAATCGAGCCCTTCC	0.478000													32	65					4.74835e-14	7.39647e-14	0.002096	1	0
ZNF711	7552	broad.mit.edu	37	X	84526494	84526494	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:84526494G>T	ENST00000360700.4	+	10	2970	c.2084G>T	c.(2083-2085)tGc>tTc	p.C695F	ZNF711_ENST00000395402.1_Missense_Mutation_p.C657F|ZNF711_ENST00000542798.1_Missense_Mutation_p.C491F|ZNF711_ENST00000276123.3_Missense_Mutation_p.C649F|ZNF711_ENST00000373165.3_Missense_Mutation_p.C649F			Q9Y462	ZN711_HUMAN	zinc finger protein 711	649					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ATTCATCAGTGCAGGCACTGT	0.388000													12	34					0.00136819	0.0015251	0.001368	1	0
L1CAM	3897	broad.mit.edu	37	X	153128982	153128982	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:153128982C>A	ENST00000370060.1	-	27	3669	c.3480G>T	c.(3478-3480)caG>caT	p.Q1160H	L1CAM_ENST00000370057.3_Missense_Mutation_p.Q1160H|L1CAM_ENST00000361981.3_Missense_Mutation_p.Q1155H|L1CAM_ENST00000538883.1_Missense_Mutation_p.Q1162H|L1CAM_ENST00000361699.4_Missense_Mutation_p.Q1160H|L1CAM_ENST00000543994.1_Missense_Mutation_p.Q1162H|L1CAM_ENST00000370055.1_Missense_Mutation_p.Q1155H	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1160					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGTCCACCTGGGTGTCCT	0.652000													13	28					7.93312e-07	9.59079e-07	0.002450	1	0
ARHGAP33	115703	broad.mit.edu	37	19	36278085	36278085	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:36278085C>T	ENST00000007510.4	+	21	2762	c.2618C>T	c.(2617-2619)tCa>tTa	p.S873L	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S712L|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S737L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	873					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GATATGGAGTCACCACTGCCA	0.657000													9	72					0	0	0.004482	0	0
MTMR4	9110	broad.mit.edu	37	17	56573570	56573570	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr17:56573570C>A	ENST00000323456.5	-	16	2057	c.1933G>T	c.(1933-1935)Gag>Tag	p.E645*	MTMR4_ENST00000579925.1_Nonsense_Mutation_p.E588*	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	645						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCAGGGCTCCAGGCCTACC	0.557000													23	30					4.4004e-07	5.42791e-07	0.003330	1	0
CUZD1	50624	broad.mit.edu	37	10	124596450	124596450	+	Silent	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:124596450C>A	ENST00000368904.1	-	7	1663	c.714G>T	c.(712-714)tcG>tcT	p.S238S	CUZD1_ENST00000545804.1_Silent_p.S238S|CUZD1_ENST00000392790.1_Silent_p.S238S			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	238	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AGTTTGATGACGATTCGAAGG	0.453000													20	57					0.00887093	0.00979835	0.008871	1	0
WDR25	79446	broad.mit.edu	37	14	100934431	100934431	+	Missense_Mutation	SNP	G	G	T	rs146541699	byFrequency	TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr14:100934431G>T	ENST00000335290.6	+	3	1122	c.896G>T	c.(895-897)cGg>cTg	p.R299L	WDR25_ENST00000402312.3_Missense_Mutation_p.R299L|WDR25_ENST00000554998.1_Missense_Mutation_p.R299L|WDR25_ENST00000542471.2_Missense_Mutation_p.R42L	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	299										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CGGGCCGCCCGGTGGGCTCCC	0.627000													72	77					3.19358e-47	6.25838e-47	0.003610	1	0
LIPK	643414	broad.mit.edu	37	10	90490869	90490869	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:90490869G>A	ENST00000404190.1	+	3	353	c.353G>A	c.(352-354)aGc>aAc	p.S118N		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	118					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTGGGGAACAGCCGAGGAAAC	0.443000													6	16					0	0	0.001168	0	0
ARHGAP4	393	broad.mit.edu	37	X	153178193	153178193	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:153178193G>T	ENST00000370028.3	-	13	1680	c.1623C>A	c.(1621-1623)aaC>aaA	p.N541K	ARHGAP4_ENST00000393721.1_Missense_Mutation_p.N323K|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.N480K|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.N501K|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.N478K	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	501	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAGTCTCTGGTTATACTGGG	0.562000													36	125					5.04308e-16	8.11568e-16	0.006230	1	0
LRRFIP2	9209	broad.mit.edu	37	3	37107762	37107762	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:37107762G>A	ENST00000421307.1	-	23	1941	c.1519C>T	c.(1519-1521)Ctc>Ttc	p.L507F	LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.L507F|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000354379.4_Intron	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	507					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCCTCTCTGAGCATATCTCGC	0.468000													9	95					0	0	0.008291	0	0
HCN1	348980	broad.mit.edu	37	5	45262540	45262540	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:45262540T>C	ENST00000303230.4	-	8	2213	c.2156A>G	c.(2155-2157)tAt>tGt	p.Y719C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	719						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGGGAGGCATAGTGGAAAGT	0.657000													29	26					0	0	0.007291	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35142594	35142594	+	RNA	SNP	A	A	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:35142594A>T	ENST00000436258.1	-	0	1811																											AAATTCTCCTATTATGCTCCA	0.348000													24	30					0	0	0.003954	0	0
ADH1C	126	broad.mit.edu	37	4	100260735	100260735	+	RNA	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr4:100260735T>A	ENST00000515683.1	-	0	1453					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AAAATCTACCTCTTTCCAGAG	0.393000													9	14					0	0	0.006214	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013681	149013681	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:149013681T>A	ENST00000535454.1	+	4	1184	c.635T>A	c.(634-636)aTc>aAc	p.I212N	MAGEA8_ENST00000286482.1_Missense_Mutation_p.I212N|MAGEA8_ENST00000542674.1_Missense_Mutation_p.I212N	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	212	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGCATGATCTTAATGGAG	0.572000													31	78					0	0	0.002445	0	0
REG3A	5068	broad.mit.edu	37	2	79386484	79386484	+	Silent	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:79386484G>T	ENST00000393878.1	-	1	302	c.48C>A	c.(46-48)tcC>tcA	p.S16S	REG3A_ENST00000409839.3_Silent_p.S16S|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Silent_p.S16S	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	16					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GCATGAGGCAGGAAAGCAGCA	0.532000													11	49					7.03913e-09	9.45032e-09	0.001368	1	0
BTN3A2	11118	broad.mit.edu	37	6	26368879	26368879	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr6:26368879A>G	ENST00000356386.2	+	4	360	c.172A>G	c.(172-174)Atg>Gtg	p.M58V	BTN3A2_ENST00000527422.1_Missense_Mutation_p.M58V|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000377708.2_Missense_Mutation_p.M58V|BTN3A2_ENST00000508906.2_Missense_Mutation_p.M16V|BTN3A2_ENST00000396934.3_Missense_Mutation_p.M35V|BTN3A2_ENST00000396948.1_Missense_Mutation_p.M58V	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	58	Ig-like V-type.					integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GTTCCCGACCATGAGTGCAGA	0.562000													43	168					0	0	0.003610	0	0
USP1	7398	broad.mit.edu	37	1	62916294	62916294	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:62916294G>C	ENST00000339950.4	+	9	2815	c.2000G>C	c.(1999-2001)gGa>gCa	p.G667A	USP1_ENST00000371146.1_Missense_Mutation_p.G667A	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	667					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GAAGCTATTGGACTTCTTGGA	0.358000													27	40					0	0	0.003954	0	0
ZNF71	58491	broad.mit.edu	37	19	57133270	57133270	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:57133270G>T	ENST00000328070.6	+	3	849	c.615G>T	c.(613-615)caG>caT	p.Q205H		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	205						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTGTGCACCAGCGCACGCACA	0.657000													12	36					1.08611e-07	1.38907e-07	0.000978	1	0
SATB2	23314	broad.mit.edu	37	2	200213481	200213481	+	Silent	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:200213481C>T	ENST00000443023.1	-	6	2404	c.939G>A	c.(937-939)ctG>ctA	p.L313L	SATB2_ENST00000428695.1_Silent_p.L254L|SATB2_ENST00000260926.5_Silent_p.L372L|SATB2_ENST00000457245.1_Silent_p.L372L|SATB2_ENST00000417098.1_Silent_p.L372L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	372						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGCCCTCTTCAGCTCATCTC	0.488000													23	123					0	0	0.003954	0	0
FCRLA	84824	broad.mit.edu	37	1	161683078	161683078	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:161683078G>T	ENST00000540926.1	+	6	1299	c.1006G>T	c.(1006-1008)Gat>Tat	p.D336Y	FCRLA_ENST00000350710.3_Missense_Mutation_p.D112Y|FCRLA_ENST00000540521.1_Missense_Mutation_p.D213Y|FCRLA_ENST00000236938.6_Missense_Mutation_p.D347Y|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000546024.1_Missense_Mutation_p.D258Y|FCRLA_ENST00000367953.3_Missense_Mutation_p.D336Y|FCRLA_ENST00000309691.6_Missense_Mutation_p.D241Y|FCRLA_ENST00000367950.1_Missense_Mutation_p.D123Y|FCRLA_ENST00000349527.4_Missense_Mutation_p.D235Y|FCRLA_ENST00000294796.4_Missense_Mutation_p.D196Y|FCRLA_ENST00000367959.2_Missense_Mutation_p.D353Y|FCRLA_ENST00000367949.2_Missense_Mutation_p.D163Y|FCRLA_ENST00000367957.2_Missense_Mutation_p.D207Y			Q7L513	FCRLA_HUMAN	Fc receptor-like A	330					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACACATGCAGGATGTGAGAGT	0.522000													25	65					1.38267e-23	2.50738e-23	0.005443	1	0
LPAR4	2846	broad.mit.edu	37	X	78010545	78010545	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:78010545C>A	ENST00000435339.2	+	2	584	c.179C>A	c.(178-180)tCt>tAt	p.S60Y	LPAR4_ENST00000373301.2_Missense_Mutation_p.S60Y	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	60						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						AACAGTGTCTCTCTGTTTGTC	0.383000													82	178					1.52223e-32	2.93573e-32	0.003610	1	0
CT45A5	441521	broad.mit.edu	37	X	134948092	134948092	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:134948092C>A	ENST00000370724.3	-	3	477	c.233G>T	c.(232-234)gGt>gTt	p.G78V	CT45A5_ENST00000491480.1_Missense_Mutation_p.G78V|CT45A4_ENST00000420087.2_Intron	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	78										endometrium(1)|large_intestine(2)|lung(6)	9						TTTGCTGAAACCAGTGAAGTC	0.448000													9	546					1.12685e-05	1.32925e-05	0.004482	1	0
SPATA5	166378	broad.mit.edu	37	4	123859323	123859323	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr4:123859323T>A	ENST00000274008.3	+	8	1446	c.1377T>A	c.(1375-1377)tgT>tgA	p.C459*	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	459					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						ATGCACTTTGTCCGAAAAGAG	0.353000													28	46					0	0	0.008361	0	0
FBXO22	26263	broad.mit.edu	37	15	76205553	76205553	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr15:76205553A>G	ENST00000308275.3	+	3	394	c.289A>G	c.(289-291)Atc>Gtc	p.I97V	FBXO22_ENST00000453211.2_Missense_Mutation_p.I97V|FBXO22_ENST00000540507.1_5'UTR	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	97					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAATGTTCGCATCTTACCACA	0.388000													16	49					0	0	0.003163	0	0
RFTN2	130132	broad.mit.edu	37	2	198498578	198498578	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:198498578A>T	ENST00000295049.3	-	4	1118	c.582T>A	c.(580-582)tgT>tgA	p.C194*		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	194						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TCCAACTTCTACAGTTTTCAT	0.398000													38	111					0	0	0.007835	0	0
IVL	3713	broad.mit.edu	37	1	152883939	152883939	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:152883939C>A	ENST00000368764.3	+	2	1730	c.1666C>A	c.(1666-1668)Caa>Aaa	p.Q556K	IVL_ENST00000392667.2_Missense_Mutation_p.Q410K			P07476	INVO_HUMAN	involucrin	556					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAGACATTCAACCAGCCCT	0.592000													52	34					6.32628e-17	1.03871e-16	0.003610	1	0
PARVB	29780	broad.mit.edu	37	22	44553883	44553883	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr22:44553883G>T	ENST00000338758.6	+	11	928	c.865G>T	c.(865-867)Gtt>Ttt	p.V289F	PARVB_ENST00000404989.1_Missense_Mutation_p.V252F|PARVB_ENST00000406477.3_Missense_Mutation_p.V322F	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	289	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				CGTGTACCTGGTTCTGCTCAT	0.498000													18	32					7.41877e-09	9.90528e-09	0.001882	1	0
SULT1C3	442038	broad.mit.edu	37	2	108863677	108863677	+	Silent	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:108863677C>A	ENST00000329106.2	+	1	27	c.27C>A	c.(25-27)ccC>ccA	p.P9P	SULT1C3_ENST00000376700.1_Silent_p.P9P	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	9						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAAACGCTCCCACGATGGAAA	0.353000													24	52					1.2476e-16	2.03467e-16	0.006320	1	0
OR14I1	401994	broad.mit.edu	37	1	248845465	248845465	+	Silent	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:248845465G>T	ENST00000342623.3	-	1	164	c.141C>A	c.(139-141)atC>atA	p.I47I		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GATCGAGAGTGATGACTGCAA	0.507000													7	53					4.26978e-12	6.25034e-12	0.003330	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102481660	102481660	+	Silent	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr14:102481660C>A	ENST00000360184.4	+	35	7397	c.7233C>A	c.(7231-7233)ccC>ccA	p.P2411P		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2411	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCGCTTCCCCCATGCTGCAGG	0.622000													12	11					1.5842e-08	2.09218e-08	0.001855	1	0
ZNF674	641339	broad.mit.edu	37	X	46359634	46359634	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:46359634T>A	ENST00000523374.1	-	6	1600	c.1390A>T	c.(1390-1392)Aca>Tca	p.T464S	ZNF674_ENST00000414387.2_Missense_Mutation_p.T458S	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						TTCTCTCCTGTATGCATTCTC	0.418000													7	73					0	0	0.004482	0	0
ZNF99	7652	broad.mit.edu	37	19	22939436	22939436	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:22939436C>T	ENST00000397104.3	-	7	2734	c.2735G>A	c.(2734-2736)gGg>gAg	p.G912E						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CGGTTTCTCCCCAGTATGAAT	0.358000													21	27					0	0	0.001523	0	0
GABRA3	2556	broad.mit.edu	37	X	151358252	151358252	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:151358252G>A	ENST00000370314.4	-	9	1331	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	GABRA3_ENST00000497894.1_5'UTR|GABRA3_ENST00000535043.1_Missense_Mutation_p.R365W|GABRA3_ENST00000370311.1_Missense_Mutation_p.R365W	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	365					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCCCAACTCCGCTTGGTGAAA	0.493000													9	111					0	0	0.004482	0	0
C11orf24	53838	broad.mit.edu	37	11	68030132	68030132	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr11:68030132C>A	ENST00000304271.6	-	4	733	c.331G>T	c.(331-333)Gcc>Tcc	p.A111S	C11orf24_ENST00000530166.1_5'UTR|C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	111						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GTACTGGAGGCCACAGCCGTG	0.587000													23	29					1.9806e-07	2.50669e-07	0.002299	1	0
PCDH19	57526	broad.mit.edu	37	X	99663476	99663476	+	Silent	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:99663476G>A	ENST00000373034.4	-	1	1795	c.120C>T	c.(118-120)gcC>gcT	p.A40A	PCDH19_ENST00000255531.7_Silent_p.A40A|PCDH19_ENST00000420881.2_Silent_p.A40A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	40	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGGCCACGTTGGCAATCACCG	0.642000													4	15					0	0	0.001168	0	0
SETD5	55209	broad.mit.edu	37	3	9477415	9477415	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:9477415G>T	ENST00000402466.1	+	7	827	c.59G>T	c.(58-60)gGg>gTg	p.G20V	SETD5_ENST00000407969.1_Missense_Mutation_p.G150V|SETD5_ENST00000402198.1_Missense_Mutation_p.G131V|SETD5_ENST00000406341.1_Missense_Mutation_p.G131V|SETD5_ENST00000302463.6_Missense_Mutation_p.G20V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	131										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTTTCAGGTGGGGATAGCAGT	0.423000													5	7					5.9392e-07	7.28902e-07	0.001168	1	0
PTCHD3	374308	broad.mit.edu	37	10	27702277	27702277	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:27702277G>T	ENST00000438700.3	-	1	1020	c.903C>A	c.(901-903)ttC>ttA	p.F301L		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	301					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TGTATCCTCCGAAGAAGCCGG	0.597000													21	75					4.26978e-12	6.25034e-12	0.003330	1	0
KLHL17	339451	broad.mit.edu	37	1	898548	898548	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:898548C>T	ENST00000338591.3	+	7	1209	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	368	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGCACCGACCGCTGGCACGT	0.701000													8	15					0	0	0.004482	0	0
DNAJC27	51277	broad.mit.edu	37	2	25174272	25174272	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:25174272C>A	ENST00000264711.2	-	6	869	c.680G>T	c.(679-681)gGg>gTg	p.G227V	DNAJC27_ENST00000534855.1_Missense_Mutation_p.G156V	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	227	J.				protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCTTGAGGCCCCAGGTTTGAC	0.443000													36	116					1.49673e-21	2.69412e-21	0.006230	1	0
PPARG	5468	broad.mit.edu	37	3	12475588	12475588	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:12475588G>A	ENST00000397026.2	+	9	1779	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	PPARG_ENST00000397012.2_Missense_Mutation_p.E460K|PPARG_ENST00000397015.2_Missense_Mutation_p.E460K|PPARG_ENST00000287820.6_Missense_Mutation_p.E488K|PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000309576.6_Missense_Mutation_p.E460K|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397010.2_Missense_Mutation_p.E460K			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	488	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CAAGAAGACGGAGACAGACAT	0.512000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						4	50					0	0	0.000248	0	0
TBL1X	6907	broad.mit.edu	37	X	9652091	9652091	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:9652091C>A	ENST00000217964.7	+	6	860	c.220C>A	c.(220-222)Cac>Aac	p.H74N	TBL1X_ENST00000424279.1_Missense_Mutation_p.H23N|TBL1X_ENST00000536365.1_Missense_Mutation_p.H23N|TBL1X_ENST00000380961.1_Missense_Mutation_p.H23N|TBL1X_ENST00000407597.2_Missense_Mutation_p.H74N	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	74	LisH.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				AGGTTTTTCCCACTCGGCTTT	0.562000													23	69					5.35356e-11	7.56346e-11	0.002780	1	0
BHLHE23	128408	broad.mit.edu	37	20	61637730	61637730	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr20:61637730T>A	ENST00000370346.2	-	1	657	c.349A>T	c.(349-351)Aac>Tac	p.N117Y		NM_080606.3	NP_542173.1	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	117	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding			NS(1)	1						AGCGCGTCGTTTAGGTCGTGC	0.721000													7	19					0	0	0.003080	0	0
PPP3CB	5532	broad.mit.edu	37	10	75198004	75198004	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:75198004T>A	ENST00000360663.5	-	14	1682	c.1571A>T	c.(1570-1572)cAg>cTg	p.Q524L	PPP3CB_ENST00000394829.2_Missense_Mutation_p.Q525L|PPP3CB_ENST00000544628.1_Missense_Mutation_p.Q152L|PPP3CB_ENST00000394828.2_Missense_Mutation_p.Q515L			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	524										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					AGTGGGTCACTGGGCAGTATG	0.547000													8	36					0	0	0.003080	0	0
C5orf54	63920	broad.mit.edu	37	5	159821008	159821008	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:159821008T>G	ENST00000408953.3	-	2	1997	c.1490A>C	c.(1489-1491)gAa>gCa	p.E497A	C5orf54_ENST00000523213.1_Missense_Mutation_p.E497A	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	497										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						agctcgtaattcagcaagatc	0.353000													4	68					0	0	0.000248	0	0
BNIP2	663	broad.mit.edu	37	15	59971852	59971852	+	Silent	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr15:59971852C>A	ENST00000267859.3	-	4	690	c.597G>T	c.(595-597)ggG>ggT	p.G199G	BNIP2_ENST00000415213.2_Silent_p.G140G|BNIP2_ENST00000607373.1_Silent_p.G78G			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	78	CRAL-TRIO.				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						AGTCAATCTCCCCACTTTCAT	0.383000													7	28					5.4927e-09	7.45657e-09	0.004482	1	0
DYNAP	284254	broad.mit.edu	37	18	52265217	52265217	+	Silent	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr18:52265217G>C	ENST00000321600.1	+	3	520	c.474G>C	c.(472-474)gtG>gtC	p.V158V	DYNAP_ENST00000585973.1_Silent_p.V106V	NM_173629.1	NP_775900.1			dynactin associated protein																		GAGAGTGTGTGACTGTCAAAC	0.443000													11	58					0	0	0.008291	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328359	61328359	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr18:61328359G>A	ENST00000283752.5	-	2	235	c.92C>T	c.(91-93)cCt>cTt	p.P31L	SERPINB3_ENST00000332821.8_Missense_Mutation_p.P31L|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	31					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GATGCTGATAGGGGAATAGAA	0.423000													32	80					0	0	0.002836	0	0
PIGN	23556	broad.mit.edu	37	18	59821870	59821870	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr18:59821870G>A	ENST00000357637.5	-	7	872	c.457C>T	c.(457-459)Cac>Tac	p.H153Y	PIGN_ENST00000400334.3_Missense_Mutation_p.H153Y	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	153					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				GTATAAACGTGGTCTCCACTA	0.313000													28	82					0	0	0.008361	0	0
ATP2B2	491	broad.mit.edu	37	3	10401703	10401703	+	Silent	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:10401703G>T	ENST00000397077.1	-	12	2204	c.1629C>A	c.(1627-1629)cgC>cgA	p.R543R	ATP2B2_ENST00000383800.4_Silent_p.R543R|ATP2B2_ENST00000360273.2_Silent_p.R588R|ATP2B2_ENST00000352432.4_Silent_p.R588R|ATP2B2_ENST00000343816.4_Silent_p.R574R			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	588					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCATCTGGCTGCGCACGGGCT	0.612000													15	28					3.27435e-08	4.25491e-08	0.002450	1	0
CDH5	1003	broad.mit.edu	37	16	66436571	66436571	+	Silent	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr16:66436571C>T	ENST00000341529.3	+	12	2002	c.1854C>T	c.(1852-1854)atC>atT	p.I618I	CDH5_ENST00000539168.1_Silent_p.I57I	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	618					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCCTGCTCATCTTCCTGCGGC	0.721000													7	14					0	0	0.006214	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515397	26515397	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:26515397C>T	ENST00000531191.1	+	19	2058	c.1051C>T	c.(1051-1053)Ctc>Ttc	p.L351F	CNKSR1_ENST00000374253.5_Missense_Mutation_p.L616F|CNKSR1_ENST00000361530.6_Missense_Mutation_p.L609F			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	616	Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		AGACCCTCAGCTCAATGAGCG	0.657000													30	44					0	0	0.008361	0	0
GZMK	3003	broad.mit.edu	37	5	54326372	54326372	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:54326372T>A	ENST00000231009.2	+	3	393	c.323T>A	c.(322-324)gTt>gAt	p.V108D	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	108	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TTCTCAAGAGTTACATCAGAT	0.398000													32	52					0	0	0.002445	0	0
DAG1	1605	broad.mit.edu	37	3	49569139	49569139	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:49569139G>C	ENST00000545947.1	+	6	1917	c.1195G>C	c.(1195-1197)Ggc>Cgc	p.G399R	DAG1_ENST00000539901.1_Missense_Mutation_p.G399R|DAG1_ENST00000541308.1_Missense_Mutation_p.G399R|DAG1_ENST00000538711.1_Missense_Mutation_p.G399R|DAG1_ENST00000515359.2_Missense_Mutation_p.G399R|DAG1_ENST00000308775.2_Missense_Mutation_p.G399R	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	399	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CACAGTTCCTGGCCAGATTCG	0.587000													30	50					0	0	0.006320	0	0
CRYBB3	1417	broad.mit.edu	37	22	25601313	25601313	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr22:25601313C>T	ENST00000215855.2	+	5	534	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	152	Beta/gamma crystallin 'Greek key' 3.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						GGCGAGTGTCCGTGCCATCAA	0.572000													9	21					0	0	0.004482	0	0
PTER	9317	broad.mit.edu	37	10	16553053	16553053	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:16553053T>C	ENST00000378000.1	+	6	1094	c.848T>C	c.(847-849)cTc>cCc	p.L283P	PTER_ENST00000423462.2_Missense_Mutation_p.L236P|PTER_ENST00000535784.2_Missense_Mutation_p.L283P|PTER_ENST00000298942.3_Missense_Mutation_p.L283P	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	283					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AGGGTGCGTCTCCTGGTGGAA	0.403000													5	13					0	0	0.001984	0	0
GRM4	2914	broad.mit.edu	37	6	34008365	34008365	+	Silent	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr6:34008365G>C	ENST00000374181.3	-	6	1498	c.1329C>G	c.(1327-1329)ggC>ggG	p.G443G	GRM4_ENST00000374177.3_Silent_p.G327G|GRM4_ENST00000544773.1_Silent_p.G274G|GRM4_ENST00000455714.2_Silent_p.G303G|GRM4_ENST00000535756.1_Silent_p.G310G|GRM4_ENST00000545715.1_Silent_p.G135G|GRM4_ENST00000538487.1_Silent_p.G443G	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	443					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCAGCTGGGTGCCATCTACAG	0.657000													13	26					0	0	0.001855	0	0
ATP10B	23120	broad.mit.edu	37	5	160097648	160097648	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:160097648C>A	ENST00000327245.5	-	7	1343	c.497G>T	c.(496-498)tGc>tTc	p.C166F		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	166					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCTTCCAGCACTTCTGCAC	0.458000													28	96					5.90632e-09	7.97354e-09	0.002445	1	0
AKAP13	11214	broad.mit.edu	37	15	86225438	86225438	+	Silent	SNP	T	T	A	rs146923250		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr15:86225438T>A	ENST00000394518.2	+	15	5246	c.5151T>A	c.(5149-5151)acT>acA	p.T1717T	AKAP13_ENST00000394510.2_5'UTR|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.T1721T	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1717					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTAATCTGACTGAGAGGTACT	0.328000													3	30					0	0	0.004672	0	0
TDRD5	163589	broad.mit.edu	37	1	179587789	179587789	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:179587789G>T	ENST00000444136.1	+	5	1137	c.887G>T	c.(886-888)aGt>aTt	p.S296I	TDRD5_ENST00000367614.1_Missense_Mutation_p.S296I|TDRD5_ENST00000294848.8_Missense_Mutation_p.S296I	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	296					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GGAACTATCAGTTCAGAACTA	0.313000													43	43					8.48111e-28	1.56129e-27	0.003610	1	0
FAM171B	165215	broad.mit.edu	37	2	187626990	187626990	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:187626990G>C	ENST00000304698.5	+	8	2124	c.1921G>C	c.(1921-1923)Gtt>Ctt	p.V641L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	641						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAATGAGGCTGTTGTAATGAC	0.507000													32	122					0	0	0.003755	0	0
C2orf78	388960	broad.mit.edu	37	2	74040695	74040695	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:74040695C>A	ENST00000409561.1	+	2	310	c.189C>A	c.(187-189)agC>agA	p.S63R		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	63	Ser-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TAACAGGAAGCATCTCCAACT	0.507000													8	49					1.12685e-05	1.32925e-05	0.004482	1	0
MAP3K15	389840	broad.mit.edu	37	X	19443726	19443726	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:19443726G>C	ENST00000338883.4	-	9	1361	c.1362C>G	c.(1360-1362)agC>agG	p.S454R	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.S286R	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	454							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCATGCTGACGCTGAAGAACT	0.478000													7	24					0	0	0.001984	0	0
CTSA	5476	broad.mit.edu	37	20	44522627	44522627	+	Splice_Site	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr20:44522627G>A	ENST00000372484.3	+	8	1029	c.746_splice	c.e8-1	p.R249_splice	CTSA_ENST00000191018.5_Splice_Site_p.R231_splice|CTSA_ENST00000372459.2_Splice_Site_p.R231_splice|CTSA_ENST00000354880.5_Splice_Site_p.R232_splice	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	231			Y -> N (in GSL; small amount of activity).		intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TCTCCTACAGGCTTTGGTCTT	0.537000													19	76					0	0	0.007413	0	0
CLCN2	1181	broad.mit.edu	37	3	184071086	184071086	+	Silent	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:184071086T>C	ENST00000265593.4	-	17	2151	c.1980A>G	c.(1978-1980)ctA>ctG	p.L660L	CLCN2_ENST00000344937.7_Silent_p.L643L|CLCN2_ENST00000457512.1_Silent_p.L660L|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Silent_p.L616L|CLCN2_ENST00000423355.2_3'UTR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	660						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CCTGATCAGATAGTGGAGAGG	0.597000													41	71					0	0	0.007835	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153270572	153270572	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:153270572C>A	ENST00000290722.1	-	7	938	c.886G>T	c.(886-888)Gac>Tac	p.D296Y		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	296					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGATCAGGTCCTGGGCCGCC	0.547000													240	204					1.44279e-96	2.89751e-96	0.003610	1	0
OR2AG1	144125	broad.mit.edu	37	11	6807054	6807054	+	Silent	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr11:6807054C>A	ENST00000307401.4	+	1	807	c.786C>A	c.(784-786)ccC>ccA	p.P262P		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGTCTTGCCCAGTTCCTTCC	0.488000													20	44					8.04996e-18	1.33982e-17	0.001882	1	0
CYP17A1	1586	broad.mit.edu	37	10	104592307	104592307	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:104592307G>A	ENST00000369887.3	-	6	1271	c.1100C>T	c.(1099-1101)gCc>gTc	p.A367V		NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	367					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GAGCATAGGGGCCACGGGCCT	0.602000													23	75					0	0	0.002780	0	0
SMARCD1	6602	broad.mit.edu	37	12	50479969	50479969	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr12:50479969G>T	ENST00000394963.4	+	2	601	c.203G>T	c.(202-204)cGa>cTa	p.R68L	SMARCD1_ENST00000381513.4_Missense_Mutation_p.R68L	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	68	Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CCAGGCAGCCGAATGACACCT	0.582000													25	44					3.28513e-13	5.05244e-13	0.003954	1	0
WISP1	8840	broad.mit.edu	37	8	134237699	134237699	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr8:134237699G>T	ENST00000250160.6	+	4	783	c.677G>T	c.(676-678)tGc>tTc	p.C226F	WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Missense_Mutation_p.C54F|WISP1_ENST00000220856.6_Missense_Mutation_p.C139F|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	226	TSP type-1.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGGAGCCCTTGCTCCACCAGC	0.597000													27	115					1.30897e-18	2.20889e-18	0.001786	1	0
KIF4A	24137	broad.mit.edu	37	X	69516981	69516981	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:69516981C>A	ENST00000374403.3	+	4	451	c.369C>A	c.(367-369)ttC>ttA	p.F123L	KIF4A_ENST00000374388.3_Missense_Mutation_p.F123L|KIF4A_ENST00000485406.1_3'UTR	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	123	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AACTGCTCTTCAAAGAAATTG	0.353000													15	43					1.52009e-12	2.30864e-12	0.003163	1	0
RYR1	6261	broad.mit.edu	37	19	38980864	38980864	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:38980864C>T	ENST00000355481.4	+	36	6094	c.5963C>T	c.(5962-5964)gCa>gTa	p.A1988V	RYR1_ENST00000359596.3_Missense_Mutation_p.A1988V|RYR1_ENST00000360985.3_Missense_Mutation_p.A1988V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1988	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCATGACCGCAGCAGAGACT	0.602000													8	44					0	0	0.004482	0	0
AMER2	219287	broad.mit.edu	37	13	25743891	25743891	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr13:25743891G>A	ENST00000357816.2	-	3	1985	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S	AMER2_ENST00000381853.3_Missense_Mutation_p.P504S|AMER2_ENST00000515384.1_Missense_Mutation_p.P623S					APC membrane recruitment protein 2																		TGCACCACGGGATGGCTAGAT	0.562000													41	82					0	0	0.003214	0	0
TTC21A	199223	broad.mit.edu	37	3	39167856	39167856	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:39167856G>T	ENST00000301819.6	+	12	1698	c.1521G>T	c.(1519-1521)ttG>ttT	p.L507F	TTC21A_ENST00000431162.2_Missense_Mutation_p.L507F|TTC21A_ENST00000440121.1_Missense_Mutation_p.L458F	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	507							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCTGTATTTGATGGCTCAGG	0.542000													29	50					7.26314e-15	1.14607e-14	0.007291	1	0
KIF4B	285643	broad.mit.edu	37	5	154396339	154396339	+	Silent	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:154396339C>A	ENST00000435029.4	+	1	3080	c.2920C>A	c.(2920-2922)Cga>Aga	p.R974R		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	974	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAGAAGATGCGAGAAGTGTG	0.463000													21	94					4.35082e-09	5.9396e-09	0.001523	1	0
ACTG2	72	broad.mit.edu	37	2	74129562	74129562	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:74129562C>G	ENST00000409624.1	+	4	845	c.202C>G	c.(202-204)Ctc>Gtc	p.L68V	ACTG2_ENST00000345517.3_Missense_Mutation_p.L68V|ACTG2_ENST00000409918.1_Missense_Mutation_p.L68V|ACTG2_ENST00000409731.3_Intron			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	68					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GATCCTAACTCTCAAATACCC	0.483000													22	35					0	0	0.001882	0	0
ERCC6L	54821	broad.mit.edu	37	X	71428457	71428457	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:71428457C>A	ENST00000334463.3	-	2	295	c.160G>T	c.(160-162)Gaa>Taa	p.E54*	ERCC6L_ENST00000373657.1_5'UTR|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	54					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AGCACTTTTTCATTGGGAAAA	0.398000													16	39					6.31663e-08	8.16458e-08	0.003163	1	0
GAGE10	643832	broad.mit.edu	37	X	49161404	49161404	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:49161404G>T	ENST00000407599.3	+	2	159	c.66G>T	c.(64-66)atG>atT	p.M22I		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	22										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					CCCCTGAAATGATTGGGCCTA	0.408000													64	303					5.80444e-35	1.12838e-34	0.003610	1	0
TGM1	7051	broad.mit.edu	37	14	24731047	24731047	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr14:24731047C>A	ENST00000206765.6	-	3	485	c.362G>T	c.(361-363)cGc>cTc	p.R121L	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	121					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTGGTCCGAGCGCGAGCTCAG	0.597000													25	60					4.22769e-11	6.00778e-11	0.006320	1	0
SEC16B	89866	broad.mit.edu	37	1	177909851	177909851	+	Splice_Site	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:177909851T>A	ENST00000308284.6	-	17	2112		c.e17-2		RP4-798P15.3_ENST00000354921.2_Splice_Site|RP4-798P15.3_ENST00000528461.1_Splice_Site	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTCTGCTAGCTGTGCCAGGTT	0.507000													26	13					0	0	0.004656	0	0
NXPE4	54827	broad.mit.edu	37	11	114450953	114450953	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr11:114450953T>C	ENST00000375478.3	-	5	1180	c.1000A>G	c.(1000-1002)Aca>Gca	p.T334A	NXPE4_ENST00000424261.2_Missense_Mutation_p.T50A	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		ATTTTGACTGTAGCCAAACTA	0.443000													35	91					0	0	0.003271	0	0
PRSS1	5644	broad.mit.edu	37	7	142460320	142460320	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:142460320G>T	ENST00000486171.1	+	5	552	c.535G>T	c.(535-537)Gtg>Ttg	p.V179L	PRSS1_ENST00000311737.7_Missense_Mutation_p.V165L			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	165	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GGATGCTCCTGTGCTGAGCCA	0.532000													15	332					0.00400662	0.00444571	0.004007	1	0
OR2T4	127074	broad.mit.edu	37	1	248525924	248525924	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:248525924G>A	ENST00000366475.1	+	1	1042	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	348					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAAGCTATGGAGTAGACCAT	0.403000													11	110					0	0	0.008291	0	0
OR8B12	219858	broad.mit.edu	37	11	124412733	124412733	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr11:124412733G>A	ENST00000306842.2	-	1	842	c.818C>T	c.(817-819)tCc>tTc	p.S273F		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GAACAGGGAGGACACTTTCCC	0.448000													14	31					0	0	0.003163	0	0
TRAJ18	28737	broad.mit.edu	37	14	22994680	22994680	+	RNA	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr14:22994680G>T	ENST00000390519.1	+	0	61																											TTGACTGTCTGGCCTGGTGAG	0.448000													35	47					9.04072e-19	1.53629e-18	0.003271	1	0
ABCD4	5826	broad.mit.edu	37	14	74764696	74764696	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr14:74764696C>T	ENST00000356924.4	-	4	505	c.362G>A	c.(361-363)cGc>cAc	p.R121H	ABCD4_ENST00000557588.1_Missense_Mutation_p.R121H|ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000298816.7_Missense_Mutation_p.R34H	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	121	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GAAGTAGAGGCGGTGAAGGTG	0.572000													11	57					0	0	0.000978	0	0
PDE6B	5158	broad.mit.edu	37	4	663834	663834	+	Splice_Site	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr4:663834G>A	ENST00000496514.1	+	22	2524		c.e22-1		PDE6B_ENST00000429163.2_Splice_Site|PDE6B_ENST00000255622.6_Intron			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta						cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TTCTCTTGCAGTAGGCACAGA	0.562000													60	95					0	0	0.003610	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			4	9					2.56e-06	3.0796e-06	0.000248	1	0
ART4	420	broad.mit.edu	37	12	14993823	14993823	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr12:14993823T>C	ENST00000228936.4	-	2	790	c.409A>G	c.(409-411)Act>Gct	p.T137A	C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4	137					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						ATGGCTCTAGTAAAGTCAGAA	0.438000													34	56					0	0	0.004878	0	0
UNC5D	137970	broad.mit.edu	37	8	35631947	35631947	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr8:35631947C>A	ENST00000287272.2	+	15	2422	c.2402C>A	c.(2401-2403)gCc>gAc	p.A801D	UNC5D_ENST00000420357.1_Missense_Mutation_p.A803D|UNC5D_ENST00000453357.2_Missense_Mutation_p.A865D|UNC5D_ENST00000404895.2_Missense_Mutation_p.A870D|UNC5D_ENST00000416672.1_Missense_Mutation_p.A875D|UNC5D_ENST00000449677.1_Missense_Mutation_p.A446D			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	870					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACCCCCAATGCCAAAGGCAAG	0.473000													13	55					0.000151284	0.000172592	0.001855	1	0
SLC7A14	57709	broad.mit.edu	37	3	170198532	170198532	+	Silent	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:170198532G>C	ENST00000231706.4	-	7	1854	c.1539C>G	c.(1537-1539)acC>acG	p.T513T	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	513						integral to membrane	amino acid transmembrane transporter activity	p.T513T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCATGTCCACGGTGCCGTAAT	0.448000													74	127					0	0	0.003610	0	0
SLC38A5	92745	broad.mit.edu	37	X	48324401	48324401	+	Splice_Site	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:48324401C>T	ENST00000376876.3	-	7	1335		c.e7+1		SLC38A5_ENST00000376875.1_Splice_Site|SLC38A5_ENST00000317669.5_Splice_Site			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5						cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						TGCTCACTCACCCCTCGGGGT	0.592000											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	14					0	0	0.003080	0	0
NOP2	4839	broad.mit.edu	37	12	6672840	6672840	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr12:6672840G>C	ENST00000541778.1	-	7	1104	c.616C>G	c.(616-618)Ctg>Gtg	p.L206V	NOP2_ENST00000545200.1_Missense_Mutation_p.L206V|NOP2_ENST00000322166.5_Missense_Mutation_p.L210V|NOP2_ENST00000399466.2_Missense_Mutation_p.L206V|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.L243V|NOP2_ENST00000537442.1_Missense_Mutation_p.L210V			P46087	NOP2_HUMAN	NOP2 nucleolar protein	210					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TTGATCTGCAGGCCCCCATCT	0.567000											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	26					0	0	0.006214	0	0
INTS1	26173	broad.mit.edu	37	7	1526614	1526614	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:1526614A>G	ENST00000389470.4	-	22	3198	c.3199T>C	c.(3199-3201)Tcc>Ccc	p.S1067P	INTS1_ENST00000404767.3_Missense_Mutation_p.S924P			Q8N201	INT1_HUMAN	integrator complex subunit 1	924					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCTCCCCGGAAGCAGCATCG	0.687000													3	14					0	0	0.004672	0	0
AGO3	192669	broad.mit.edu	37	1	36492838	36492838	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:36492838G>C	ENST00000373191.4	+	12	1879	c.1530G>C	c.(1528-1530)aaG>aaC	p.K510N	AGO3_ENST00000246314.6_Missense_Mutation_p.K276N	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		GGCATCTCAAGAACACATATT	0.488000													5	59					0	0	0.000602	0	0
REG4	83998	broad.mit.edu	37	1	120342457	120342457	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:120342457G>C	ENST00000354219.1	-	5	633	c.194C>G	c.(193-195)gCc>gGc	p.A65G	REG4_ENST00000530654.1_Missense_Mutation_p.A65G|REG4_ENST00000256585.5_Missense_Mutation_p.A65G	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	65	C-type lectin.					extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TGCCAGGTGGGCTCCGTTTCC	0.507000													12	173					0	0	0.001368	0	0
SNX8	29886	broad.mit.edu	37	7	2297100	2297100	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:2297100G>A	ENST00000222990.3	-	9	1076	c.1034C>T	c.(1033-1035)gCc>gTc	p.A345V		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	345					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CTTGTGCAGGGCCCGCTGGTG	0.672000													6	4					0	0	0.001168	0	0
OBSCN	84033	broad.mit.edu	37	1	228431083	228431083	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:228431083G>T	ENST00000570156.2	+	11	3479	c.3405G>T	c.(3403-3405)caG>caT	p.Q1135H	OBSCN_ENST00000422127.1_Missense_Mutation_p.Q1043H|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q1043H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	71	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGTGCAGCAGGCAGGCAAGA	0.577000													17	38					4.14922e-12	6.18564e-12	0.004007	1	0
OR6N1	128372	broad.mit.edu	37	1	158736189	158736189	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:158736189G>A	ENST00000335094.2	-	1	303	c.284C>T	c.(283-285)tCt>tTt	p.S95F		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GAGACACCCAGAGAATGAAAT	0.483000													6	75					0	0	0.001984	0	0
FAM187B	148109	broad.mit.edu	37	19	35716023	35716023	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:35716023C>T	ENST00000324675.3	-	2	863	c.815G>A	c.(814-816)gGc>gAc	p.G272D		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	272						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CTGCCTGCCGCCGGTGGAGGG	0.667000													9	20					0	0	0.004482	0	0
C10orf118	55088	broad.mit.edu	37	10	115891846	115891846	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:115891846C>A	ENST00000369287.3	-	11	2019	c.1753G>T	c.(1753-1755)Gaa>Taa	p.E585*	C10orf118_ENST00000543782.1_Nonsense_Mutation_p.E183*	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	585										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AGCTCAGATTCTCTTTTCCTA	0.363000													27	57					5.77227e-19	9.8779e-19	0.008361	1	0
EPHB6	2051	broad.mit.edu	37	7	142562336	142562336	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:142562336G>T	ENST00000392957.2	+	7	1565	c.778G>T	c.(778-780)Ggc>Tgc	p.G260C	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G260C	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	260	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCAGCTGTGGGCACCTGTGT	0.667000													41	77					5.44703e-19	9.38743e-19	0.002222	1	0
SLMAP	7871	broad.mit.edu	37	3	57913021	57913021	+	Splice_Site	SNP	A	A	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:57913021A>G	ENST00000295951.3	+	22	3560		c.e22-1		SLMAP_ENST00000494088.1_Splice_Site|SLMAP_ENST00000442599.2_Splice_Site|SLMAP_ENST00000495364.1_Splice_Site|SLMAP_ENST00000295952.3_Splice_Site|SLMAP_ENST00000449503.2_Splice_Site|SLMAP_ENST00000428312.1_Splice_Site			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein						muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CTTTCCACACAGAAACCCTGG	0.493000													5	9					0	0	0.000602	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72165763	72165763	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr14:72165763G>C	ENST00000555818.1	+	11	3788	c.3440G>C	c.(3439-3441)cGg>cCg	p.R1147P	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1147P|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R622P|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1147P	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1147					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCCCAGTGTCGGAACTCTCCT	0.493000													22	60					0	0	0.001523	0	0
C9	735	broad.mit.edu	37	5	39316014	39316014	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:39316014G>T	ENST00000263408.4	-	6	828	c.733C>A	c.(733-735)Ccc>Acc	p.P245T	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	245	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GTTTCAGTGGGTGTAAATTTT	0.333000													20	65					1.01871e-10	1.43091e-10	0.008871	1	0
CTNNA2	1496	broad.mit.edu	37	2	80101283	80101283	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:80101283G>T	ENST00000466387.1	+	10	1391	c.667G>T	c.(667-669)Gcc>Tcc	p.A223S	CTNNA2_ENST00000496558.1_Missense_Mutation_p.A223S|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A223S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A257S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A223S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A223S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	223					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCTGTACACGGCCTCTCAAGC	0.557000													10	43					7.48243e-07	9.09115e-07	0.006214	1	0
COL4A1	1282	broad.mit.edu	37	13	110839649	110839649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr13:110839649C>A	ENST00000375820.4	-	25	1685	c.1564G>T	c.(1564-1566)Ggc>Tgc	p.G522C		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	522	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGCTGGCCTATCAGCCCT	0.547000													12	24					2.31682e-05	2.70667e-05	0.003163	1	0
OR5B3	441608	broad.mit.edu	37	11	58170070	58170070	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr11:58170070C>T	ENST00000309403.2	-	1	812	c.813G>A	c.(811-813)atG>atA	p.M271I		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACACAGGTGCCATTTTGTCTG	0.453000													32	54					0	0	0.002445	0	0
FAM124A	220108	broad.mit.edu	37	13	51805511	51805511	+	Silent	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr13:51805511G>T	ENST00000322475.8	+	2	231	c.96G>T	c.(94-96)acG>acT	p.T32T	FAM124A_ENST00000280057.6_Silent_p.T32T	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	32								p.T32T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TGTCCTCCACGAGCAGTAAGT	0.428000													31	75					2.42023e-17	4.00079e-17	0.003271	1	0
SPATA5	166378	broad.mit.edu	37	4	123859322	123859322	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr4:123859322G>T	ENST00000274008.3	+	8	1445	c.1376G>T	c.(1375-1377)tGt>tTt	p.C459F	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	459					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GATGCACTTTGTCCGAAAAGA	0.353000													28	45					2.4375e-19	4.29212e-19	0.007291	1	0
NFX1	4799	broad.mit.edu	37	9	33364014	33364014	+	Silent	SNP	A	A	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr9:33364014A>G	ENST00000379540.3	+	20	2942	c.2880A>G	c.(2878-2880)ttA>ttG	p.L960L	NFX1_ENST00000379521.4_Silent_p.L960L	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	960					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TCAGGAGATTAGCAGAGGCAT	0.393000													10	21					0	0	0.000978	0	0
TANC2	26115	broad.mit.edu	37	17	61482500	61482500	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr17:61482500G>T	ENST00000424789.2	+	18	3131	c.3127G>T	c.(3127-3129)Gga>Tga	p.G1043*	RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Nonsense_Mutation_p.G1043*	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1043							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGCTGCAGCCGGAAGGGGCAA	0.562000													9	15					1.08611e-07	1.38907e-07	0.000978	1	0
NOV	4856	broad.mit.edu	37	8	120431548	120431548	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr8:120431548G>T	ENST00000259526.3	+	4	967	c.740G>T	c.(739-741)cGg>cTg	p.R247L		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	247	TSP type-1.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGCATGGTGCGGCCCTGTGAA	0.562000													34	92					5.8336e-16	9.32609e-16	0.003271	1	0
COL6A5	256076	broad.mit.edu	37	3	130095284	130095284	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:130095284G>T	ENST00000265379.6	+	3	766	c.272G>T	c.(271-273)aGc>aTc	p.S91I	COL6A5_ENST00000432398.2_Missense_Mutation_p.S91I			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	91	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAAGGCAGAAGCCCCATGCTG	0.517000													11	5					3.86212e-05	4.49041e-05	0.008291	1	0
EDA2R	60401	broad.mit.edu	37	X	65824988	65824988	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:65824988G>T	ENST00000374719.3	-	3	224	c.168C>A	c.(166-168)caC>caA	p.H56Q	EDA2R_ENST00000456230.2_Missense_Mutation_p.H56Q|EDA2R_ENST00000253392.5_Missense_Mutation_p.H56Q|EDA2R_ENST00000450752.1_Missense_Mutation_p.H56Q|EDA2R_ENST00000396050.1_Missense_Mutation_p.H56Q|EDA2R_ENST00000451436.2_Intron	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	56					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TCTGACATCTGTGGTGGCCCC	0.542000													12	28					2.68362e-12	4.05043e-12	0.001368	1	0
SMARCD1	6602	broad.mit.edu	37	12	50492536	50492536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr12:50492536C>T	ENST00000394963.4	+	12	1830	c.1432C>T	c.(1432-1434)Cga>Tga	p.R478*	SMARCD1_ENST00000381513.4_Nonsense_Mutation_p.R437*|SMARCD1_ENST00000548573.1_Nonsense_Mutation_p.R276*	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	478	Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GGAGGAGCGCCGAGCTGAGTT	0.537000													11	20					0	0	0.000978	0	0
OR2AG1	144125	broad.mit.edu	37	11	6807055	6807055	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr11:6807055A>G	ENST00000307401.4	+	1	808	c.787A>G	c.(787-789)Agt>Ggt	p.S263G		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGTCTTGCCCAGTTCCTTCCA	0.483000													20	44					0	0	0.001882	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639102	149639102	+	Silent	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:149639102G>A	ENST00000370401.2	+	4	1567	c.1257G>A	c.(1255-1257)ccG>ccA	p.P419P	MAMLD1_ENST00000426613.2_Silent_p.P394P|MAMLD1_ENST00000432680.2_Silent_p.P394P|MAMLD1_ENST00000262858.5_Silent_p.P419P			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	419					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAACAGCCGCAGTTCGGCC	0.592000													73	187					0	0	0.003610	0	0
ZNF473	25888	broad.mit.edu	37	19	50549674	50549674	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:50549674T>A	ENST00000595661.1	+	6	2469	c.1974T>A	c.(1972-1974)agT>agA	p.S658R	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.S658R|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.S646R|ZNF473_ENST00000270617.3_Missense_Mutation_p.S658R|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	658					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAGCCACAGTGCACACCTCT	0.453000													22	28					0	0	0.002299	0	0
ORC4	5000	broad.mit.edu	37	2	148733486	148733486	+	Silent	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:148733486T>A	ENST00000535373.1	-	3	474	c.42A>T	c.(40-42)acA>acT	p.T14T	ORC4_ENST00000392858.1_Silent_p.T14T|ORC4_ENST00000264169.2_Silent_p.T14T|ORC4_ENST00000540442.1_Intron|ORC4_ENST00000392857.4_Silent_p.T14T|ORC4_ENST00000536575.1_Intron|ORC4_ENST00000542387.1_5'UTR	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	14					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						AAAGGCACTCTGTGTGAATTA	0.299000													7	53					0	0	0.003080	0	0
CD163L1	283316	broad.mit.edu	37	12	7556223	7556223	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr12:7556223G>T	ENST00000313599.3	-	6	1373	c.1316C>A	c.(1315-1317)aCt>aAt	p.T439N	CD163L1_ENST00000396630.1_Missense_Mutation_p.T439N|CD163L1_ENST00000416109.2_Missense_Mutation_p.T449N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	439	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTCATTCCCAGTGCAAGATAT	0.448000													46	58					2.61675e-31	4.92924e-31	0.003214	1	0
GDA	9615	broad.mit.edu	37	9	74810477	74810477	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr9:74810477C>A	ENST00000545168.1	+	0	301				GDA_ENST00000376986.1_Missense_Mutation_p.P20Q|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376989.3_Missense_Mutation_p.P37Q|GDA_ENST00000238018.4_Missense_Mutation_p.P62Q|GDA_ENST00000358399.3_Missense_Mutation_p.P62Q	NM_001242507.2	NP_001229436.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase						nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TGCTTCAAGCCGTGTGAAATA	0.358000													3	21					0.00024832	0.000280659	0.000248	1	0
PYGB	5834	broad.mit.edu	37	20	25257281	25257281	+	Splice_Site	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr20:25257281G>A	ENST00000216962.4	+	6	770		c.e6-1			NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain						glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	TTTGTGGCCAGGTGGTGCTGG	0.682000													7	29					0	0	0.001984	0	0
LEP	3952	broad.mit.edu	37	7	127894809	127894809	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:127894809G>T	ENST00000308868.4	+	3	548	c.497G>T	c.(496-498)gGg>gTg	p.G166V		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	166					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						CTCAGCCCTGGGTGCTGAGGC	0.577000													13	18					9.05144e-12	1.31707e-11	0.001855	1	0
KCNH1	3756	broad.mit.edu	37	1	210977509	210977509	+	Splice_Site	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:210977509C>T	ENST00000367007.4	-	8	1551		c.e8-1		KCNH1_ENST00000271751.4_Splice_Site	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1						myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TAGAGAAGTGCTAGAGGTGAG	0.488000													10	10					0	0	0.006214	0	0
SPRR3	6707	broad.mit.edu	37	1	152975806	152975829	+	In_Frame_Del	DEL	CCAGGCTACACCAAGGTCCCTGAA	CCAGGCTACACCAAGGTCCCTGAA	-	rs1970328	byFrequency	TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	ENST00000331860.3	+	3	460_483	c.310_333delCCAGGCTACACCAAGGTCCCTGAA	c.(310-333)del	p.PGYTKVPE104del	SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del|SPRR3_ENST00000295367.4_In_Frame_Del_p.PGYTKVPE104del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	104	14 X 8 AA approximate tandem repeats.		Missing.		keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA	0.567													17	79	---	---	---	---					
OR2L8	391190	broad.mit.edu	37	1	248112595	248112595	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:248112595delG	ENST00000357191.3	+	1	436	c.436delG	c.(436-438)ggfs	p.G146fs	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GATGATAACAGGGTCTTGGAT	0.433													118	107	---	---	---	---					
GPR149	344758	broad.mit.edu	37	3	154146739	154146739	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:154146739delC	ENST00000389740.2	-	1	765	c.666delG	c.(664-666)ccfs	p.P223fs		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	223						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGAGTCTCGGCGGCTCCTCCG	0.577													33	71	---	---	---	---					
NKD2	85409	broad.mit.edu	37	5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-	rs3840989		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)del	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.AP78del	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.690													3	5	---	---	---	---					
TAF11	6882	broad.mit.edu	37	6	34846380	34846381	+	Frame_Shift_Ins	INS	-	-	T	rs139408667		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr6:34846380_34846381insT	ENST00000361288.4	-	5	753_754	c.622_623insA	c.(622-624)catfs	p.H208fs	UHRF1BP1_ENST00000452449.2_Intron|TAF11_ENST00000420584.2_3'UTR	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	208					positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding	p.I208fs*>4(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						GAAGAAGATGATTTTTTTGTGC	0.421													10	130	---	---	---	---					
USP2-AS1	100499227	broad.mit.edu	37	11	119274142	119274142	+	RNA	DEL	T	T	-	rs66493459		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr11:119274142delT	ENST00000498979.2	+	0	273				USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000577297.1_RNA	NR_034160.1																						AGTGTTTAAGttttttttttt	0.343													2	4	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1221226	1221226	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:1221226delC	ENST00000326873.7	+	6	1922	c.749delC	c.(748-750)agfs	p.T250fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	250	Protein kinase.		T -> P (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		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.?(2)|p.Y246fs*3(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)		AACATCACCACGGGTCTGTAC	0.592		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			14	11	---	---	---	---					
KEAP1	9817	broad.mit.edu	37	19	10602611	10602612	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:10602611_10602612insA	ENST00000171111.5	-	3	1513_1514	c.966_967insT	c.(964-969)ccaggtfs	p.G323fs	KEAP1_ENST00000393623.2_Frame_Shift_Ins_p.G323fs	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGGCCCACCTTGGGCGCCCGGC	0.649													12	31	---	---	---	---					
