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
NPL	80896	broad.mit.edu	37	1	182781338	182781338	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:182781338C>T	ENST00000367554.3	+	4	539	c.221C>T	c.(220-222)tCa>tTa	p.S74L	NPL_ENST00000367555.1_Missense_Mutation_p.S93L|NPL_ENST00000258317.2_Missense_Mutation_p.S93L|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367552.2_Missense_Mutation_p.S93L|NPL_ENST00000367553.1_Missense_Mutation_p.S93L	NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	93					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						TTGAAGGAGTCACAGGAACTG	0.443000													10	30					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66703654	66703654	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:66703654A>G	ENST00000247815.4	+	4	1005	c.946A>G	c.(946-948)Aat>Gat	p.N316D		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	316					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TGTTGAAGTGAATGACTTAAC	0.373000													24	110					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62376855	62376855	+	Silent	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:62376855T>C	ENST00000394773.2	-	6	1036	c.729A>G	c.(727-729)ccA>ccG	p.P243P	EML3_ENST00000278845.4_Silent_p.P244P|EML3_ENST00000494176.2_Silent_p.P215P|EML3_ENST00000529309.1_Silent_p.P243P|EML3_ENST00000531557.1_Silent_p.P26P	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	243						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCTCTGGCGGTGGGCCACTCG	0.572000													25	55					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681984	55681984	+	Silent	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:55681984C>A	ENST00000344514.1	-	1	74	c.75G>T	c.(73-75)gtG>gtT	p.V25V		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAAATAGGGTCACTTTCATCT	0.353000													21	35					0.000175454	0.000184452	1	1	0
RGS22	26166	broad.mit.edu	37	8	100999771	100999771	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr8:100999771G>A	ENST00000360863.6	-	21	3289	c.3095C>T	c.(3094-3096)tCa>tTa	p.S1032L	RGS22_ENST00000523437.1_Missense_Mutation_p.S1020L|RGS22_ENST00000523287.1_Missense_Mutation_p.S851L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1032	RGS 2.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAATTGTCTTGAAGTAACTGG	0.353000													11	46					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232601013	232601013	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:232601013C>A	ENST00000366630.1	-	8	2751	c.2393G>T	c.(2392-2394)cGa>cTa	p.R798L	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R798L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	798	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGCCATTGCTCGAAACTTTTC	0.468000													28	105					5.45727e-16	6.34104e-16	1	1	0
KIF6	221458	broad.mit.edu	37	6	39328252	39328252	+	Silent	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr6:39328252C>T	ENST00000287152.7	-	18	2095	c.2001G>A	c.(1999-2001)ttG>ttA	p.L667L	KIF6_ENST00000373215.3_Silent_p.L650L|KIF6_ENST00000541946.1_Silent_p.L118L|KIF6_ENST00000538893.1_Silent_p.L611L|KIF6_ENST00000394362.1_Silent_p.L118L|KIF6_ENST00000373216.3_Silent_p.L667L|KIF6_ENST00000373213.4_Silent_p.L506L|KIF6_ENST00000229913.5_Silent_p.L118L	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	667					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGAGCAGCTGCAAGTGCTCGA	0.537000													19	58					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24582507	24582507	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr16:24582507C>G	ENST00000319715.4	+	18	4552	c.4120C>G	c.(4120-4122)Cag>Gag	p.Q1374E	RBBP6_ENST00000381039.3_Missense_Mutation_p.Q534E|RBBP6_ENST00000348022.2_Missense_Mutation_p.Q1340E	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1374					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CGAGAAAATTCAGAAATTCAC	0.358000													7	32					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89128907	89128907	+	Silent	SNP	C	C	A	rs149503873	byFrequency	TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr8:89128907C>A	ENST00000286614.6	-	6	1193	c.912G>T	c.(910-912)ccG>ccT	p.P304P	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	304					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.P304P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GGGGCACTGTCGGTAGAGGTC	0.522000													18	113					2.35188e-11	2.65744e-11	1	1	0
TP53BP1	7158	broad.mit.edu	37	15	43769952	43769952	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr15:43769952T>C	ENST00000263801.3	-	8	1031	c.779A>G	c.(778-780)gAg>gGg	p.E260G	TP53BP1_ENST00000382044.4_Missense_Mutation_p.E265G|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E265G|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E265G	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	260					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGGCATGTCCTCTGACCTAGG	0.363000								Other conserved DNA damage response genes					3	75					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519786	113519786	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr7:113519786G>A	ENST00000284601.3	-	4	1429	c.1361C>T	c.(1360-1362)cCt>cTt	p.P454L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	454					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGAGGGGCAAGGTATTTGCAC	0.393000													12	76					0	0	1	0	0
FOSL1	8061	broad.mit.edu	37	11	65664290	65664290	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:65664290G>A	ENST00000312562.2	-	2	473	c.287C>T	c.(286-288)cCt>cTt	p.P96L	FOSL1_ENST00000532401.1_Missense_Mutation_p.P96L|FOSL1_ENST00000448083.2_Intron|FOSL1_ENST00000531493.1_Missense_Mutation_p.P96L	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	96					cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		CTGTTCACAAGGCCTTCGACG	0.637000													10	46					0	0	1	0	0
FST	10468	broad.mit.edu	37	5	52778754	52778754	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:52778754G>T	ENST00000396947.3	+	2	296	c.130G>T	c.(130-132)Gtc>Ttc	p.V44F	FST_ENST00000256759.3_Missense_Mutation_p.V44F	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	44	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CCGCTGCCAGGTCCTGTACAA	0.617000											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	18					0.00621372	0.00630154	1	1	0
ADCK4	79934	broad.mit.edu	37	19	41220456	41220456	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:41220456C>G	ENST00000324464.3	-	2	383	c.82G>C	c.(82-84)Ggg>Cgg	p.G28R	ADCK4_ENST00000450541.1_Missense_Mutation_p.G28R|ADCK4_ENST00000243583.6_Missense_Mutation_p.G28R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	28						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GGCCCAGGCCCCAGGGCCCCA	0.647000													16	35					0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37368673	37368673	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:37368673A>G	ENST00000529555.1	+	2	1729	c.941A>G	c.(940-942)tAt>tGt	p.Y314C	ZNF345_ENST00000589046.1_Missense_Mutation_p.Y314C|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.Y314C			Q14585	ZN345_HUMAN	zinc finger protein 345	314					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAAACCCTATGAGTGTAAG	0.398000													16	61					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171410146	171410146	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:171410146C>A	ENST00000356327.5	-	13	1384	c.1314G>T	c.(1312-1314)ttG>ttT	p.L438F	PLD1_ENST00000340989.4_Missense_Mutation_p.L438F|PLD1_ENST00000342215.6_Missense_Mutation_p.L438F|PLD1_ENST00000351298.4_Missense_Mutation_p.L438F	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	438					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTAGACGCATCAAAGTCCTCT	0.393000													19	59					1.33834e-09	1.48302e-09	1	1	0
LMF2	91289	broad.mit.edu	37	22	50945329	50945329	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr22:50945329C>T	ENST00000216080.5	-	2	323	c.155G>A	c.(154-156)gGc>gAc	p.G52D	LMF2_ENST00000505981.1_5'UTR|LMF2_ENST00000380796.3_Missense_Mutation_p.G77D|LMF2_ENST00000474879.2_Missense_Mutation_p.G77D			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	77						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCTCCAGGCCCTGGGCCGT	0.701000													3	7					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95519022	95519022	+	RNA	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:95519022A>G	ENST00000432432.2	-	0	529					NR_040113.1																						TATACACAGCATAATGGAGAG	0.468000													42	188					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97821567	97821567	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr7:97821567T>C	ENST00000297293.5	+	11	2083	c.1790T>C	c.(1789-1791)cTt>cCt	p.L597P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	597					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGCGTTGAACTTGAGGAGTCC	0.552000													10	35					0	0	1	0	0
ALDOC	230	broad.mit.edu	37	17	26901578	26901578	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr17:26901578A>C	ENST00000226253.4	-	6	1033	c.558T>G	c.(556-558)atT>atG	p.I186M	ALDOC_ENST00000395319.3_Intron|ALDOC_ENST00000395321.2_Missense_Mutation_p.I186M	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	186					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CAGGTTCCACAATAGGCACAA	0.507000											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	84					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93221728	93221728	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:93221728A>G	ENST00000322349.8	-	12	1628	c.1364T>C	c.(1363-1365)gTg>gCg	p.V455A		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	455	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TAAATCAGCCACTTGTTGTTC	0.403000													28	83					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158152732	158152732	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:158152732C>A	ENST00000368171.3	+	5	1171	c.672C>A	c.(670-672)tgC>tgA	p.C224*		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	224	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGCTGGTGTGCCATGTCTCAG	0.607000													29	96					1.38267e-23	1.6197e-23	1	1	0
PTPN4	5775	broad.mit.edu	37	2	120620165	120620165	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:120620165G>T	ENST00000263708.2	+	3	963	c.192G>T	c.(190-192)ttG>ttT	p.L64F		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	64	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATCTAGATTTGACTGAGCAGG	0.343000													12	87					7.93312e-07	8.59172e-07	1	1	0
FKBP6	8468	broad.mit.edu	37	7	72754661	72754661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr7:72754661C>T	ENST00000252037.4	+	6	679	c.610C>T	c.(610-612)Cga>Tga	p.R204*	FKBP6_ENST00000413573.2_Nonsense_Mutation_p.R174*|FKBP6_ENST00000431982.2_Nonsense_Mutation_p.R199*	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	204					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCTGCGCCGGCGATCAGCACC	0.537000													13	39					0	0	1	0	0
SOD1	6647	broad.mit.edu	37	21	33032093	33032093	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr21:33032093A>G	ENST00000270142.6	+	1	159	c.11A>G	c.(10-12)aAg>aGg	p.K4R	SOD1_ENST00000389995.4_Missense_Mutation_p.K4R|SOD1_ENST00000470944.1_3'UTR	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	4					activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|DNA fragmentation involved in apoptotic nuclear change|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|regulation of T cell differentiation in thymus|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development	cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex	chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)	4						ATGGCGACGAAGGCCGTGTGC	0.637000													7	40					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51243772	51243772	+	Silent	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr14:51243772C>T	ENST00000245441.5	-	7	751	c.561G>A	c.(559-561)ctG>ctA	p.L187L	NIN_ENST00000389868.3_Silent_p.L187L|NIN_ENST00000530997.2_Silent_p.L187L|NIN_ENST00000324330.9_Silent_p.L187L|NIN_ENST00000382041.3_Silent_p.L187L|NIN_ENST00000382043.4_Silent_p.L187L|NIN_ENST00000453196.1_Silent_p.L187L	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	187	EF-hand 3.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AAACTTCTTGCAGTTTCTCTT	0.478000			T	PDGFRB	MPD								6	72					0	0	1	0	0
FBXL4	26235	broad.mit.edu	37	6	99347204	99347204	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr6:99347204G>C	ENST00000369244.2	-	7	1685	c.1257C>G	c.(1255-1257)ttC>ttG	p.F419L	FBXL4_ENST00000229971.1_Missense_Mutation_p.F419L	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	419					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CAATGTGGTTGAAAGCTTGAG	0.368000													12	83					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													9	87					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60549576	60549576	+	Silent	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr10:60549576C>T	ENST00000373886.3	+	8	934	c.930C>T	c.(928-930)atC>atT	p.I310I		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	310	KH 2.				multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TCAAACATATCATGCAGAGAA	0.453000													41	129					0	0	1	0	0
POU2AF1	5450	broad.mit.edu	37	11	111228351	111228351	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:111228351G>A	ENST00000393067.3	-	4	789	c.275C>T	c.(274-276)aCc>aTc	p.T92I		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	92					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GGTGGCCGGGGTGGGCTGGGA	0.617000			T	BCL6	NHL								13	32					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124992721	124992721	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr8:124992721T>A	ENST00000522917.1	+	11	1286	c.1080T>A	c.(1078-1080)ttT>ttA	p.F360L	FER1L6_ENST00000399018.1_Missense_Mutation_p.F360L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	360						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGCCCACCTTTGGGCCTGCCT	0.438000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	67					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107452	6107452	+	Silent	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr4:6107452C>T	ENST00000409021.3	-	3	821	c.372G>A	c.(370-372)gcG>gcA	p.A124A	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Silent_p.A124A|JAKMIP1_ENST00000409831.1_Silent_p.A124A|JAKMIP1_ENST00000410077.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	124	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTTGTCGGCCGCGCCGTCGC	0.716000													8	8					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178415703	178415703	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:178415703T>C	ENST00000408939.3	-	1	2039	c.1789A>G	c.(1789-1791)Atg>Gtg	p.M597V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TGTTTTGACATGTTTTCTAAC	0.383000													25	129					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102040609	102040609	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:102040609C>T	ENST00000549145.1	+	12	1098	c.998C>T	c.(997-999)tCa>tTa	p.S333L	MYBPC1_ENST00000550270.1_Missense_Mutation_p.S320L|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000361466.2_Missense_Mutation_p.S345L|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000541119.1_Missense_Mutation_p.S308L|MYBPC1_ENST00000452455.2_Missense_Mutation_p.S320L|MYBPC1_ENST00000536007.1_Missense_Mutation_p.S301L|MYBPC1_ENST00000547405.1_Missense_Mutation_p.S294L|MYBPC1_ENST00000547509.1_Missense_Mutation_p.S306L|MYBPC1_ENST00000361685.2_Missense_Mutation_p.S345L|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000392934.3_Missense_Mutation_p.S307L|MYBPC1_ENST00000545503.2_Missense_Mutation_p.S320L|MYBPC1_ENST00000553190.1_Missense_Mutation_p.S320L|MYBPC1_ENST00000551300.1_Missense_Mutation_p.S221L|MYBPC1_ENST00000360610.2_Missense_Mutation_p.S320L|MYBPC1_ENST00000441232.1_Missense_Mutation_p.S320L			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	320	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACAGATGATTCAGAGTATTAT	0.388000													12	57					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116812148	116812148	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr9:116812148G>T	ENST00000288466.7	+	14	2386	c.2287G>T	c.(2287-2289)Gct>Tct	p.A763S	ZNF618_ENST00000374126.5_Missense_Mutation_p.A856S|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	856					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCCCCGCTCTGCTGCCGTCGA	0.597000													48	55					1.27334e-21	1.48556e-21	1	1	0
PDZD2	23037	broad.mit.edu	37	5	32093105	32093105	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:32093105T>C	ENST00000438447.1	+	21	8208	c.7820T>C	c.(7819-7821)aTt>aCt	p.I2607T	PDZD2_ENST00000282493.3_Missense_Mutation_p.I2607T			O15018	PDZD2_HUMAN	PDZ domain containing 2	2607					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTAACTCTCATTCAGGAAGCG	0.478000											OREG0016544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	50					0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30070208	30070208	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr20:30070208G>A	ENST00000201979.2	+	4	835	c.542G>A	c.(541-543)cGc>cAc	p.R181H		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	181					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAGCTGCGGCGCACACATCAG	0.607000													12	44					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54647986	54647986	+	Missense_Mutation	SNP	C	C	T	rs138688054	byFrequency	TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:54647986C>T	ENST00000406403.1	+	6	2004	c.401C>T	c.(400-402)aCg>aTg	p.T134M	CNOT3_ENST00000221232.5_Missense_Mutation_p.T134M|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	134					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACCATCGACACGCTCAACATG	0.562000													3	31					0	0	1	0	0
TOMM40	10452	broad.mit.edu	37	19	45396118	45396118	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:45396118A>C	ENST00000592434.1	+	4	460	c.367A>C	c.(367-369)Aca>Cca	p.T123P	TOMM40_ENST00000426677.2_Missense_Mutation_p.T123P|TOMM40_ENST00000252487.5_Missense_Mutation_p.T123P|TOMM40_ENST00000405636.2_Missense_Mutation_p.T123P			O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)	123					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		AGCCCTCAGCACAATCGGGGA	0.522000													5	21					0	0	1	0	0
RPS24	6229	broad.mit.edu	37	10	79795399	79795399	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr10:79795399G>T	ENST00000440692.1	+	3	342	c.200G>T	c.(199-201)gGc>gTc	p.G67V	RPS24_ENST00000372360.3_Missense_Mutation_p.G67V|RPS24_ENST00000476545.1_3'UTR|RPS24_ENST00000360830.4_Missense_Mutation_p.G67V|RPS24_ENST00000435275.1_Missense_Mutation_p.G67V	NM_001142285.1	NP_001135757.1	P62847	RS24_HUMAN	ribosomal protein S24	67					endocrine pancreas development|erythrocyte homeostasis|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	nucleotide binding|structural constituent of ribosome|translation initiation factor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			TTTGGTGGTGGCAAGACAACT	0.393000													4	96					0.000602214	0.00061727	1	1	0
ACACA	31	broad.mit.edu	37	17	35548097	35548097	+	Silent	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr17:35548097G>C	ENST00000353139.5	-	38	5017	c.4536C>G	c.(4534-4536)ctC>ctG	p.L1512L	ACACA_ENST00000360679.3_Silent_p.L1417L|ACACA_ENST00000335166.5_Silent_p.L1397L|ACACA_ENST00000394406.2_Silent_p.L1475L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1475					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCACAAAGTTGAGGAAGATGT	0.448000													8	27					0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32902322	32902322	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:32902322C>G	ENST00000587077.2	+	3	685	c.281C>G	c.(280-282)tCt>tGt	p.S94C	DPY19L3_ENST00000342179.5_Intron|DPY19L3_ENST00000392250.2_Intron|DPY19L3_ENST00000586987.1_Intron			Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)							integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TCAGTGGGATCTCCAGTAGTA	0.368000													9	47					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132239971	132239971	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:132239971T>C	ENST00000261674.4	+	10	1636	c.1495T>C	c.(1495-1497)Tat>Cat	p.Y499H	SFSWAP_ENST00000541286.1_Missense_Mutation_p.Y499H	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	499					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TAATGCTTATTATGAGTTTAA	0.458000											OREG0022261	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	47					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77642913	77642913	+	Silent	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr13:77642913T>C	ENST00000407578.2	-	70	12224	c.11958A>G	c.(11956-11958)gaA>gaG	p.E3986E	MYCBP2_ENST00000544440.2_Silent_p.E3948E|MYCBP2_ENST00000357337.6_Silent_p.E3948E	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3948					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTTCCCATTCTTCACGGACTC	0.408000													18	54					0	0	1	0	0
RILPL1	353116	broad.mit.edu	37	12	124008081	124008081	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:124008081C>A	ENST00000376874.4	-	2	656	c.421G>T	c.(421-423)Gat>Tat	p.D141Y		NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	141					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		AAATTGACATCCTTGTGGGAG	0.582000													22	80					3.28513e-13	3.7563e-13	1	1	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	32					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117770339	117770339	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chrX:117770339C>T	ENST00000276204.6	+	36	3991	c.3917C>T	c.(3916-3918)tCa>tTa	p.S1306L	DOCK11_ENST00000276202.7_Missense_Mutation_p.S1306L			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1306					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AATAAAGTATCACCTCAGGAG	0.303000													19	32					0	0	1	0	0
ZNF781	163115	broad.mit.edu	37	19	38160606	38160606	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:38160606C>G	ENST00000358582.4	-	4	1192	c.444G>C	c.(442-444)caG>caC	p.Q148H	ZNF781_ENST00000590008.1_Missense_Mutation_p.Q148H|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TTCCCACATTCTGTACATTCG	0.378000													4	103					0	0	1	0	0
NR1D2	9975	broad.mit.edu	37	3	24018906	24018906	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:24018906C>G	ENST00000312521.4	+	8	2055	c.1736C>G	c.(1735-1737)cCt>cGt	p.P579R	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	579					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AAAGTTCACCCTTAAGGCCTT	0.348000													17	51					0	0	1	0	0
TM4SF20	79853	broad.mit.edu	37	2	228228662	228228662	+	Silent	SNP	A	A	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:228228662A>T	ENST00000304568.3	-	4	505	c.468T>A	c.(466-468)ggT>ggA	p.G156G		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	156						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GTTTATTGAAACCAGTAGGAG	0.403000													20	56					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109888389	109888389	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:109888389G>T	ENST00000256637.6	-	8	1005	c.947C>A	c.(946-948)tCt>tAt	p.S316Y	SORT1_ENST00000538502.1_Missense_Mutation_p.S179Y	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	316					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		AGCCATCACAGAGGCAAAAAG	0.413000													5	116					0.00116845	0.00119339	1	1	0
HS3ST3A1	9955	broad.mit.edu	37	17	13503916	13503916	+	Silent	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr17:13503916G>A	ENST00000284110.1	-	1	1328	c.531C>T	c.(529-531)gaC>gaT	p.D177D		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	177						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CGGCGCGCACGTCGGGGTGCA	0.711000													5	11					0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44983600	44983600	+	Silent	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr20:44983600G>T	ENST00000372227.1	-	7	1122	c.582C>A	c.(580-582)ctC>ctA	p.L194L	SLC35C2_ENST00000243896.2_Silent_p.L194L|SLC35C2_ENST00000372230.5_Silent_p.L194L|SLC35C2_ENST00000317734.8_Silent_p.L173L|SLC35C2_ENST00000372229.1_Silent_p.L61L|SLC35C2_ENST00000543605.1_Silent_p.L223L	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	194					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				TGGGATTCTGGAGGCCTGCAG	0.627000													8	33					5.18039e-06	5.54766e-06	1	1	0
SRSF11	9295	broad.mit.edu	37	1	70687346	70687346	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:70687346C>A	ENST00000370950.3	+	2	109	c.27C>A	c.(25-27)agC>agA	p.S9R	SRSF11_ENST00000370951.1_Missense_Mutation_p.S9R|SRSF11_ENST00000405432.1_Missense_Mutation_p.S9R|SRSF11_ENST00000436161.2_Missense_Mutation_p.S9R|SRSF11_ENST00000454435.2_Missense_Mutation_p.S9R			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	9					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						TCGTCCCCAGCACTGCAGGTC	0.642000													8	85					2.94398e-08	3.2249e-08	1	1	0
LY75	4065	broad.mit.edu	37	2	160737661	160737661	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:160737661T>C	ENST00000263636.4	-	8	1364	c.1337A>G	c.(1336-1338)tAt>tGt	p.Y446C	LY75_ENST00000553424.1_Missense_Mutation_p.Y446C|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.Y446C|LY75_ENST00000554112.1_Missense_Mutation_p.Y446C|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.Y446C	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTCATCCCAATATGTTAGAGT	0.373000													12	80					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557962	210557962	+	Silent	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:210557962C>A	ENST00000360351.4	+	7	1574	c.1068C>A	c.(1066-1068)acC>acA	p.T356T	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.T352T|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	356					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGCAACAAACCAGTGGCCCAG	0.443000													7	52					0.0381472	0.0381472	1	1	0
MYT1	4661	broad.mit.edu	37	20	62850369	62850369	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr20:62850369C>T	ENST00000536311.1	+	12	2397	c.2033C>T	c.(2032-2034)cCa>cTa	p.P678L	MYT1_ENST00000360149.4_Missense_Mutation_p.P353L|MYT1_ENST00000328439.1_Missense_Mutation_p.P651L			Q01538	MYT1_HUMAN	myelin transcription factor 1	651					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGCACGAAGCCACAGGACCTC	0.592000													13	29					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101908834	101908834	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr9:101908834G>T	ENST00000374994.4	+	7	1315	c.1198G>T	c.(1198-1200)Gac>Tac	p.D400Y	TGFBR1_ENST00000374990.2_Missense_Mutation_p.D323Y|TGFBR1_ENST00000550253.1_Missense_Mutation_p.D331Y|TGFBR1_ENST00000552516.1_Missense_Mutation_p.D404Y	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	400	Protein kinase.		D -> G (in LDS1A).		activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CAAACGTGCTGACATCTATGC	0.388000													69	112					1.15062e-32	1.35896e-32	1	1	0
C1orf109	54955	broad.mit.edu	37	1	38149079	38149079	+	Silent	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:38149079A>G	ENST00000358011.4	-	4	675	c.486T>C	c.(484-486)tcT>tcC	p.S162S	C1orf109_ENST00000609516.1_5'UTR|C1orf109_ENST00000464085.1_Silent_p.S162S	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	162										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				CCCACTGGATAGACGAAAGAA	0.433000													15	67					0	0	1	0	0
MLX	6945	broad.mit.edu	37	17	40722064	40722064	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr17:40722064G>C	ENST00000246912.4	+	7	756	c.703G>C	c.(703-705)Gac>Cac	p.D235H	MLX_ENST00000435881.2_Missense_Mutation_p.D181H|MLX_ENST00000346833.4_Missense_Mutation_p.D151H	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	235					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CCAGGTCTCTGACCAGGTCAA	0.552000													3	53					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5921268	5921268	+	Silent	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr9:5921268T>C	ENST00000399933.3	-	8	4727	c.4728A>G	c.(4726-4728)ggA>ggG	p.G1576G	KIAA2026_ENST00000381461.2_Silent_p.G1546G	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1576										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTATGTTTAGTCCAATTTTCA	0.378000													44	61					0	0	1	0	0
SCN1B	6324	broad.mit.edu	37	19	35523483	35523483	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:35523483T>C	ENST00000262631.5	+	2	229	c.92T>C	c.(91-93)gTg>gCg	p.V31A	SCN1B_ENST00000595652.1_Missense_Mutation_p.V31A|SCN1B_ENST00000596348.1_3'UTR|SCN1B_ENST00000415950.3_Missense_Mutation_p.V31A	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	31	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACCGAGGCCGTGTATGGGATG	0.617000													21	96					0	0	1	0	0
TEX9	374618	broad.mit.edu	37	15	56683503	56683503	+	Nonsense_Mutation	SNP	C	C	G	rs139609954	by1000genomes	TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr15:56683503C>G	ENST00000558083.2	+	6	563	c.233C>G	c.(232-234)tCa>tGa	p.S78*	TEX9_ENST00000352903.2_Nonsense_Mutation_p.S153*|TEX9_ENST00000561221.2_Nonsense_Mutation_p.S153*|TEX9_ENST00000537232.1_Nonsense_Mutation_p.S78*			Q8N6V9	TEX9_HUMAN	testis expressed 9	153										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		GAGGATTTCTCAGACTTTTCC	0.323000													20	75					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95412469	95412469	+	Silent	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr8:95412469A>G	ENST00000336148.5	-	7	1291	c.1167T>C	c.(1165-1167)gaT>gaC	p.D389D		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTCTTACCTGATCAACAGTAA	0.313000								Direct reversal of damage;Homologous recombination					11	31					0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108926500	108926500	+	Silent	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chrX:108926500G>A	ENST00000340800.2	-	4	720	c.216C>T	c.(214-216)gaC>gaT	p.D72D	ACSL4_ENST00000469796.2_Silent_p.D72D|ACSL4_ENST00000348502.6_Silent_p.D31D	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	72					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	CTCCAGGGATGTCTATTACAG	0.438000													43	63					0	0	1	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37475333	37475333	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:37475333A>G	ENST00000002125.4	+	10	1206	c.1166A>G	c.(1165-1167)tAt>tGt	p.Y389C	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.Y291C	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		CTTCAAGGATATGATATGTTA	0.358000													11	45					0	0	1	0	0
PHLDA3	23612	broad.mit.edu	37	1	201437599	201437599	+	Nonsense_Mutation	SNP	T	T	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:201437599T>A	ENST00000367311.3	-	1	713	c.316A>T	c.(316-318)Aag>Tag	p.K106*	PHLDA3_ENST00000485436.1_5'UTR|PHLDA3_ENST00000367309.1_Nonsense_Mutation_p.K106*	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	106	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						TGCTGGTTCTTGAACTTGACC	0.642000													21	78					0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089097	43089097	+	Silent	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr22:43089097G>A	ENST00000401850.1	-	2	1350	c.861C>T	c.(859-861)atC>atT	p.I287I	A4GALT_ENST00000381278.3_Silent_p.I287I|A4GALT_ENST00000249005.2_Silent_p.I287I			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	287					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						CCTGCCAGGGGATGGGGTAGA	0.632000													3	12					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69087847	69087847	+	Silent	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:69087847G>A	ENST00000543976.1	-	8	2274	c.2028C>T	c.(2026-2028)gcC>gcT	p.A676A	CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|TMF1_ENST00000398559.2_Silent_p.A673A|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	673					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTGCAGCATTGGCTTTGTGAA	0.378000													32	107					0	0	1	0	0
GOLGA6L7P	728310	broad.mit.edu	37	15	29092255	29092255	+	RNA	SNP	A	A	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr15:29092255A>T	ENST00000569815.1	-	0	260					NR_047567.1																						TCTCAGGGTTAGCGCCATGAT	0.547000													7	29					0	0	1	0	0
SPRY2	10253	broad.mit.edu	37	13	80911159	80911159	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr13:80911159G>C	ENST00000377102.1	-	2	1659	c.682C>G	c.(682-684)Cac>Gac	p.H228D	SPRY2_ENST00000377104.3_Missense_Mutation_p.H228D|SPRY2_ENST00000540649.1_Missense_Mutation_p.H228D			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	228	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		TTAGAACAGTGATAGAAGAGA	0.498000													12	35					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551150	165551150	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:165551150G>A	ENST00000375458.2	-	11	2973	c.2752C>T	c.(2752-2754)Ccc>Tcc	p.P918S	COBLL1_ENST00000392717.2_Missense_Mutation_p.P994S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P956S|COBLL1_ENST00000194871.6_Missense_Mutation_p.P1023S|COBLL1_ENST00000342193.4_Missense_Mutation_p.P956S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	994										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTACTTAAGGGAGAAAGAGTC	0.493000													4	28					0	0	1	0	0
C15orf41	84529	broad.mit.edu	37	15	37100570	37100570	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr15:37100570G>C	ENST00000566621.1	+	11	1012	c.762G>C	c.(760-762)gaG>gaC	p.E254D	C15orf41_ENST00000338183.4_Missense_Mutation_p.E156D|C15orf41_ENST00000567389.1_Missense_Mutation_p.E156D|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000562877.1_Missense_Mutation_p.E156D|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000569302.1_Missense_Mutation_p.E260D|C15orf41_ENST00000563167.1_Missense_Mutation_p.A17P|C15orf41_ENST00000562489.1_Missense_Mutation_p.E78D|C15orf41_ENST00000437989.2_Missense_Mutation_p.E254D	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	254							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		TTATCCAGGAGCTGGACTGCA	0.468000													13	38					0	0	1	0	0
BHLHE23	128408	broad.mit.edu	37	20	61637572	61637572	+	Silent	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr20:61637572G>A	ENST00000370346.2	-	1	815	c.507C>T	c.(505-507)aaC>aaT	p.N169N		NM_080606.3	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	169					transcription, DNA-dependent	nucleus	DNA binding			NS(1)	1						CCTGGCCCTGGTTGAGGAAGG	0.697000													6	12					0	0	1	0	0
COQ3	51805	broad.mit.edu	37	6	99819440	99819440	+	Silent	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr6:99819440A>G	ENST00000254759.3	-	6	777	c.753T>C	c.(751-753)acT>acC	p.T251T	COQ3_ENST00000369242.1_Silent_p.T23T|COQ3_ENST00000369240.1_Silent_p.T23T	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	251					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TGTTGATTGTAGTAATGAATA	0.338000													12	48					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19710913	19710913	+	Silent	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr16:19710913C>G	ENST00000438132.3	+	30	3051	c.3003C>G	c.(3001-3003)ctC>ctG	p.L1001L	C16orf62_ENST00000448695.1_Silent_p.L762L|C16orf62_ENST00000543152.1_Silent_p.L661L|C16orf62_ENST00000417362.2_Silent_p.L819L|C16orf62_ENST00000542263.1_Silent_p.L908L|C16orf62_ENST00000251143.5_Silent_p.L912L	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	912						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TCAACCAGCTCTCCGTCAACC	0.602000													14	39					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24901081	24901081	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr14:24901081C>T	ENST00000251343.5	+	3	753	c.614C>T	c.(613-615)gCa>gTa	p.A205V	KHNYN_ENST00000556842.1_Missense_Mutation_p.A205V|KHNYN_ENST00000553935.1_Missense_Mutation_p.A205V			O15037	KHNYN_HUMAN	KH and NYN domain containing	205								p.A205V(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GGGCCAGGAGCACTGGCTTCT	0.647000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	62					0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149669140	149669140	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:149669140C>G	ENST00000348628.6	-	1	714	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	CAMK2A_ENST00000398376.3_Missense_Mutation_p.E17Q	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	17	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAATTCCTCGAAGAGCTGG	0.632000													8	57					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45867687	45867687	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:45867687T>C	ENST00000391945.4	-	8	790	c.713A>G	c.(712-714)aAc>aGc	p.N238S	ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S|ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S|ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S|ERCC2_ENST00000221481.6_Intron	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	238	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.N238S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCAATGTTGTGGGCCTC	0.637000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	28					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259167	89259167	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:89259167G>C	ENST00000336596.2	+	3	536	c.311G>C	c.(310-312)cGa>cCa	p.R104P	EPHA3_ENST00000452448.2_Missense_Mutation_p.R104P|EPHA3_ENST00000494014.1_Missense_Mutation_p.R104P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	104						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTCACTCTACGAGACTGCAAT	0.443000										TSP Lung(6;0.00050)			19	70					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123202475	123202475	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chrX:123202475T>C	ENST00000371160.1	+	24	2617	c.2327T>C	c.(2326-2328)cTg>cCg	p.L776P	STAG2_ENST00000371145.3_Missense_Mutation_p.L776P|STAG2_ENST00000371157.3_Missense_Mutation_p.L776P|STAG2_ENST00000218089.9_Missense_Mutation_p.L776P|STAG2_ENST00000354548.5_Missense_Mutation_p.L707P|STAG2_ENST00000371144.3_Missense_Mutation_p.L776P|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	776					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAACATTACCTGACCAACGTG	0.289000													28	34					0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32561089	32561089	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr10:32561089C>G	ENST00000319778.6	-	12	2172	c.1870G>C	c.(1870-1872)Gtt>Ctt	p.V624L	EPC1_ENST00000263062.8_Missense_Mutation_p.V647L|EPC1_ENST00000375110.2_Missense_Mutation_p.V574L	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	647					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GTCTTAGAAACAAAACCCTAA	0.343000													11	41					0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35657303	35657303	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:35657303G>T	ENST00000543307.1	+	8	642	c.562G>T	c.(562-564)Ggt>Tgt	p.G188C	FXYD5_ENST00000392217.3_Intron|FXYD5_ENST00000591716.2_Intron|FXYD5_ENST00000392219.2_Intron|FXYD5_ENST00000342879.3_Intron|FXYD5_ENST00000423817.3_Intron|FXYD5_ENST00000588699.1_Missense_Mutation_p.G188C|FXYD5_ENST00000590686.1_Intron|FXYD5_ENST00000541435.2_Intron			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	0					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGTTCTCAAAGGTCCCTGGGC	0.453000													4	34					0.00024832	0.000259156	1	1	0
XKR4	114786	broad.mit.edu	37	8	56015435	56015435	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr8:56015435C>A	ENST00000327381.6	+	1	487	c.387C>A	c.(385-387)gaC>gaA	p.D129E		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGGGCACAGACGTCTGGCTCG	0.667000													15	64					4.7546e-09	5.24835e-09	1	1	0
MROH2B	133558	broad.mit.edu	37	5	41009477	41009477	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:41009477C>T	ENST00000399564.4	-	32	3775	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E664K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCTGGCTTTTCAGCCAGCGCC	0.498000													27	85					0	0	1	0	0
C5orf55	116349	broad.mit.edu	37	5	442599	442599	+	Silent	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:442599G>A	ENST00000408966.2	-	1	659	c.339C>T	c.(337-339)cgC>cgT	p.R113R		NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	113						extracellular region				large_intestine(1)|lung(2)	3						CCTCTGCAGCGCGGCCCAGTG	0.637000													17	44					0	0	1	0	0
VAX2	25806	broad.mit.edu	37	2	71160141	71160141	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:71160141C>T	ENST00000234392.2	+	3	712	c.680C>T	c.(679-681)cCa>cTa	p.P227L		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	227					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						AACTCCTCCCCACGCCTCAAC	0.706000													7	27					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101863539	101863539	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:101863539C>A	ENST00000263468.8	+	10	3545	c.3275C>A	c.(3274-3276)tCc>tAc	p.S1092Y	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S893Y	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1092							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAAACCCATCCATCAAAAAT	0.254000													14	46					1.05317e-09	1.17611e-09	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139189617	139189617	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr8:139189617A>C	ENST00000395297.1	-	11	1246	c.1076T>G	c.(1075-1077)cTt>cGt	p.L359R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	359								p.L359P(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGACTGCAAGTTTTTGGTG	0.418000										HNSCC(54;0.14)			15	39					0	0	1	0	0
HBP1	26959	broad.mit.edu	37	7	106830730	106830730	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr7:106830730T>A	ENST00000222574.4	+	8	1221	c.1035T>A	c.(1033-1035)ttT>ttA	p.F345L	HBP1_ENST00000461963.1_Intron|HBP1_ENST00000468410.1_Missense_Mutation_p.F345L|HBP1_ENST00000485846.1_Missense_Mutation_p.F345L	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	345	AXH.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CCATTAATTTTGATGATTCAG	0.363000													30	137					0	0	1	0	0
SPPL3	121665	broad.mit.edu	37	12	121205362	121205362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:121205362C>A	ENST00000353487.2	-	9	1311	c.808G>T	c.(808-810)Gga>Tga	p.G270*		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	271						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGATGTCTCCGATGCCCAAC	0.512000													9	36					0.000442599	0.000456928	1	1	0
ARHGAP33	115703	broad.mit.edu	37	19	36271141	36271141	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:36271141T>A	ENST00000007510.4	+	7	674	c.530T>A	c.(529-531)cTc>cAc	p.L177H	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.L177H|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.L41H			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	177					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						CGACTGCTCCTCAGTGAGGAG	0.577000													8	66					0	0	1	0	0
UAP1L1	91373	broad.mit.edu	37	9	139972887	139972887	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr9:139972887G>A	ENST00000360271.3	+	1	295	c.59G>A	c.(58-60)tGg>tAg	p.W20*	UAP1L1_ENST00000409858.3_Intron|UAP1L1_ENST00000476184.1_Intron			Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like 1	0							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TGCCGGCTCTGGTCCGAGCCC	0.697000													9	21					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123477076	123477076	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:123477076G>C	ENST00000280562.5	-	15	2579	c.2374C>G	c.(2374-2376)Ccg>Gcg	p.P792A	PITPNM2_ENST00000320201.4_Missense_Mutation_p.P792A|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P513A|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P792A			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	792	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TCCCCCAGCGGGTAGCGTTGG	0.687000													17	52					0	0	1	0	0
RARRES1	5918	broad.mit.edu	37	3	158431599	158431599	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:158431599C>T	ENST00000237696.5	-	2	606	c.326G>A	c.(325-327)cGc>cAc	p.R109H	RARRES1_ENST00000479756.1_Missense_Mutation_p.R109H|RARRES1_ENST00000498640.1_5'UTR	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	109					negative regulation of cell proliferation	integral to membrane				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	TGGGTTGTAGCGCTCTGTGCT	0.383000													20	90					0	0	1	0	0
TPGS2	25941	broad.mit.edu	37	18	34380205	34380205	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr18:34380205T>C	ENST00000334295.4	-	5	879	c.452A>G	c.(451-453)aAt>aGt	p.N151S	TPGS2_ENST00000383056.3_Missense_Mutation_p.N108S|TPGS2_ENST00000587129.1_Missense_Mutation_p.N151S|TPGS2_ENST00000593035.1_Missense_Mutation_p.N116S|TPGS2_ENST00000589049.1_Missense_Mutation_p.N151S|TPGS2_ENST00000590842.1_Missense_Mutation_p.N151S|TPGS2_ENST00000590652.1_5'UTR	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	151						cytoplasm|microtubule											CCCACTGCCATTGCATGAATC	0.463000													37	142					0	0	1	0	0
SYDE1	85360	broad.mit.edu	37	19	15224636	15224636	+	Silent	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:15224636C>A	ENST00000600252.1	+	5	2683	c.1041C>A	c.(1039-1041)gtC>gtA	p.V347V	SYDE1_ENST00000600440.1_Silent_p.V623V|SYDE1_ENST00000342784.2_Silent_p.V690V			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	690					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						ACGAGGAGGTCGGCGAGCCGA	0.632000													45	116					9.57592e-29	1.12635e-28	1	1	0
RYR1	6261	broad.mit.edu	37	19	38973746	38973746	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:38973746A>G	ENST00000355481.4	+	32	4831	c.4700A>G	c.(4699-4701)aAg>aGg	p.K1567R	RYR1_ENST00000359596.3_Missense_Mutation_p.K1567R|RYR1_ENST00000360985.3_Missense_Mutation_p.K1567R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1567	6 X approximate repeats.|B30.2/SPRY 3.				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)	GAGCTGGGGAAGCAGAAGGTA	0.612000													6	42					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150789620	150789620	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:150789620T>C	ENST00000358595.5	-	17	1837	c.1637A>G	c.(1636-1638)gAt>gGt	p.D546G	ARNT_ENST00000515192.1_Missense_Mutation_p.D532G|ARNT_ENST00000354396.2_Missense_Mutation_p.D546G|ARNT_ENST00000505755.1_Missense_Mutation_p.D531G	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	546					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAATAAACCATCTGACTTCTC	0.373000			T	ETV6	AML								14	39					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13717008	13717008	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr10:13717008T>C	ENST00000357447.2	-	16	1522	c.1154A>G	c.(1153-1155)aAg>aGg	p.K385R	FRMD4A_ENST00000378503.1_Missense_Mutation_p.K385R|FRMD4A_ENST00000358621.4_Missense_Mutation_p.K370R	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	385						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CAGCATGTCCTTCTTGGCCGA	0.542000													14	72					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18151059	18151059	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr17:18151059G>A	ENST00000327031.4	-	20	2624	c.2399C>T	c.(2398-2400)gCc>gTc	p.A800V	FLII_ENST00000379450.4_Missense_Mutation_p.A714V|FLII_ENST00000545457.2_Missense_Mutation_p.A745V|FLII_ENST00000579294.1_Missense_Mutation_p.A789V|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	800	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CAGCTTGAGGGCGGCAGCGCG	0.687000													7	21					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150463184	150463184	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:150463184C>A	ENST00000369064.3	+	4	529	c.495C>A	c.(493-495)ttC>ttA	p.F165L	TARS2_ENST00000438568.2_Intron|TARS2_ENST00000369054.2_Missense_Mutation_p.F165L|TARS2_ENST00000606933.1_Missense_Mutation_p.F165L	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	165					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.F165L(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	ACCATGATTTCTTCCTGGGAA	0.507000													20	85					2.39187e-15	2.7569e-15	1	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140736874	140736874	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:140736874G>A	ENST00000571252.1	+	1	2107	c.2107G>A	c.(2107-2109)Gtc>Atc	p.V703I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCTCCTGCGTCTTCCTGGC	0.607000													13	46					0	0	1	0	0
FSTL1	11167	broad.mit.edu	37	3	120115834	120115834	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:120115834C>T	ENST00000295633.3	-	11	1248	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	FSTL1_ENST00000424703.2_Missense_Mutation_p.E263K	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	298					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TTGGTCTTTTCAGCTGTTTCC	0.418000													4	85					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47206029	47206029	+	Silent	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:47206029G>C	ENST00000319190.5	+	5	1115	c.747G>C	c.(745-747)gtG>gtC	p.V249V	TTC7A_ENST00000394850.2_Silent_p.V249V|TTC7A_ENST00000409245.1_Silent_p.V215V|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	249							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCGCCTATGTGAAAAACCTGA	0.542000													5	36					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7249747	7249747	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr17:7249747G>A	ENST00000158762.3	+	12	1150	c.944G>A	c.(943-945)tGc>tAc	p.C315Y		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	315	PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTTCGTCTCTGCACAGTGAAA	0.547000											OREG0024135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	54					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853064	40853064	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:40853064G>T	ENST00000254691.5	+	3	1829	c.1630G>T	c.(1630-1632)Ggt>Tgt	p.G544C	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	544					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GACTCAGTTTGGTTTTTTGAT	0.403000													19	88					5.35267e-07	5.819e-07	1	1	0
ATP6AP1	537	broad.mit.edu	37	X	153664175	153664175	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chrX:153664175A>C	ENST00000369762.2	+	10	1412	c.1351A>C	c.(1351-1353)Aag>Cag	p.K451Q		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	451					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTCAGCCTCAAGACCATGGA	0.572000													46	70					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901046	51901046	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr17:51901046G>A	ENST00000268919.4	+	1	808	c.652G>A	c.(652-654)Gtg>Atg	p.V218M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	218	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGCGTCTGCGTGAGGAAGCG	0.542000													26	23					0	0	1	0	0
TPRG1L	127262	broad.mit.edu	37	1	3544188	3544188	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:3544188G>A	ENST00000378344.2	+	4	666	c.595G>A	c.(595-597)Gca>Aca	p.A199T	TPRG1L_ENST00000344579.5_Missense_Mutation_p.A140T	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	199						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GATGGCTGGCGCAGATGAGAA	0.542000													30	118					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	66878787	66878787	+	Nonstop_Mutation	SNP	T	T	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr13:66878787T>G	ENST00000544246.1	-	5	4405	c.3714A>C	c.(3712-3714)taA>taC	p.*1238Y	PCDH9_ENST00000328454.5_Nonstop_Mutation_p.*1204Y|PCDH9_ENST00000456367.1_Nonstop_Mutation_p.*1204Y|PCDH9_ENST00000377865.2_Nonstop_Mutation_p.*1238Y|PCDH9-AS1_ENST00000430861.1_RNA	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAGCCTTTTCTTAGAGTTGGT	0.423000													14	39					0	0	1	0	0
ZNF7	7553	broad.mit.edu	37	8	146067713	146067713	+	Silent	SNP	C	C	T	rs146760497	by1000genomes	TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr8:146067713C>T	ENST00000528372.1	+	5	1461	c.1221C>T	c.(1219-1221)caC>caT	p.H407H	ZNF7_ENST00000446747.2_Silent_p.H418H|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000325241.6_Silent_p.H407H|ZNF7_ENST00000544249.1_Silent_p.H311H			P17097	ZNF7_HUMAN	zinc finger protein 7	407					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AGAGAATTCACGCTGTAGAGA	0.478000													39	75					0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34118751	34118751	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:34118751G>A	ENST00000341394.4	+	17	2098	c.1909G>A	c.(1909-1911)Gat>Aat	p.D637N	CAPRIN1_ENST00000389645.3_Missense_Mutation_p.D637N|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.D637N|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.D556N|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.D637N	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	637					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				AGGAGGATATGATGGTTACCG	0.368000													4	38					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140278629	140278629	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr4:140278629G>T	ENST00000296543.5	+	11	1500	c.1177G>T	c.(1177-1179)Gct>Tct	p.A393S	NAA15_ENST00000398947.1_Missense_Mutation_p.A393S	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	393					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GCCATCTATTGCTTTGGAGTA	0.353000													7	43					0.000157383	0.000166063	1	1	0
SLC46A3	283537	broad.mit.edu	37	13	29286865	29286865	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr13:29286865C>G	ENST00000266943.6	-	3	1381	c.1012G>C	c.(1012-1014)Gga>Cga	p.G338R	SLC46A3_ENST00000380814.4_Missense_Mutation_p.G338R	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	338					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		ATAGCCATTCCTGTCATCGTG	0.358000													22	48					0	0	1	0	0
MIR508	574513	broad.mit.edu	37	X	146318513	146318513	+	RNA	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chrX:146318513C>T	ENST00000384857.1	-	0	32					NR_030235.1																						GTGACGCCCTCTGGAGTAGGG	0.428000													4	11					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs142836124	by1000genomes	TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196																		p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000													4	43					0	0	1	0	0
ZNF461	92283	broad.mit.edu	37	19	37147369	37147369	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:37147369C>G	ENST00000588268.1	-	4	440	c.213G>C	c.(211-213)gaG>gaC	p.E71D	ZNF461_ENST00000360357.4_Missense_Mutation_p.E71D	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATCTTCCTGTCTCTTCCCTCA	0.488000													5	42					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55902224	55902224	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr7:55902224T>C	ENST00000388975.3	-	6	730	c.614A>G	c.(613-615)cAg>cGg	p.Q205R		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	205					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTAAACGTCTGTAAATCATT	0.353000													7	28					0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44184453	44184453	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr20:44184453C>T	ENST00000357199.4	-	4	410	c.332G>A	c.(331-333)tGg>tAg	p.W111*	WFDC8_ENST00000289953.2_Nonsense_Mutation_p.W111*	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	111	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GTCAAAATGCCAGCGCTGTGC	0.473000													21	49					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41350881	41350881	+	Silent	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr15:41350881T>C	ENST00000361937.3	-	16	2365	c.1941A>G	c.(1939-1941)caA>caG	p.Q647Q	INO80_ENST00000401393.3_Silent_p.Q647Q			Q9ULG1	INO80_HUMAN	INO80 complex subunit	647	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTACCATGTATTGCCACTTGA	0.478000													15	42					0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35656103	35656103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:35656103G>A	ENST00000357214.5	-	4	1509	c.1411C>T	c.(1411-1413)Caa>Taa	p.Q471*		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	471					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCTTACTTTTGATACATTGGA	0.308000			T	TFE3	papillary renal cell								4	34					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63990581	63990581	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:63990581G>C	ENST00000279227.5	+	14	1839	c.1744G>C	c.(1744-1746)Gac>Cac	p.D582H	FERMT3_ENST00000345728.5_Missense_Mutation_p.D578H	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	582					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GATCCGCATCGACTTGGCCGT	0.627000													9	41					0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573881	136573881	+	Silent	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:136573881T>C	ENST00000446465.2	+	2	1207	c.579T>C	c.(577-579)aaT>aaC	p.N193N	RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.N193N|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	193	DUF6 1.					Golgi apparatus|integral to membrane											CTCCCAGCAATGGGACCACTA	0.408000													28	105					0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13269291	13269291	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr20:13269291G>A	ENST00000262487.4	+	4	754	c.748G>A	c.(748-750)Gca>Aca	p.A250T	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor		TSP type-1.					extracellular region		p.C248fs*22(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CGCGTGCACTGCAACAGAATC	0.537000													13	59					0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24178651	24178651	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr6:24178651C>A	ENST00000378454.3	-	9	1534	c.1233G>T	c.(1231-1233)gaG>gaT	p.E411D	DCDC2_ENST00000378450.3_Missense_Mutation_p.E164D	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	411					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCTCACCATTCTCCTCATCGG	0.522000													17	112					4.14922e-12	4.7255e-12	1	1	0
PRKG1	5592	broad.mit.edu	37	10	54040658	54040658	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr10:54040658C>G	ENST00000373980.4	+	13	1930	c.1513C>G	c.(1513-1515)Ctc>Gtc	p.L505V	PRKG1_ENST00000373985.1_Missense_Mutation_p.L478V|PRKG1_ENST00000401604.2_Missense_Mutation_p.L490V|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.L208V	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	490	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GCCAGAAAATCTCATCCTAGA	0.393000													29	80					0	0	1	0	0
SLURP1	57152	broad.mit.edu	37	8	143822607	143822607	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr8:143822607T>C	ENST00000246515.1	-	3	291	c.266A>G	c.(265-267)cAc>cGc	p.H89R		NM_020427.2	NP_065160.1	P55000	SLUR1_HUMAN	secreted LY6/PLAUR domain containing 1	89					cell activation|cell adhesion	extracellular space	cytokine activity			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAAGATCAGGTGGGCGGCCCC	0.672000													7	19					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956411	18956411	+	Translation_Start_Site	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:18956411C>T	ENST00000302797.3	-	0	145				MRGPRX1_ENST00000526914.1_Intron	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1						acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						attctccccaccaccctgcca	0.483000													19	94					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75277120	75277120	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr10:75277120G>C	ENST00000339859.4	-	19	3164	c.3064C>G	c.(3064-3066)Caa>Gaa	p.Q1022E	RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.Q872E|USP54_ENST00000422491.2_Missense_Mutation_p.Q204E|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.Q1022E|USP54_ENST00000394811.2_Missense_Mutation_p.Q110E			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1022					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.Q1022E(1)|p.Q110E(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGCTGTTCTTGAGCAATGCCT	0.547000													33	71					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45856034	45856034	+	Silent	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:45856034G>C	ENST00000391945.4	-	20	1949	c.1872C>G	c.(1870-1872)ccC>ccG	p.P624P	ERCC2_ENST00000391944.3_Silent_p.P546P	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	624	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGTAGACGTAGGGGACGCCAA	0.622000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	67					0	0	1	0	0
YY1	7528	broad.mit.edu	37	14	100705714	100705714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr14:100705714G>T	ENST00000262238.4	+	1	393	c.133G>T	c.(133-135)Gag>Tag	p.E45*		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	45	Asp/Glu-rich (acidic).				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				gggcgaggaggaggaggagga	0.711000													5	13					0.014758	0.0149139	1	1	0
CAMK2B	816	broad.mit.edu	37	7	44282882	44282882	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr7:44282882C>A	ENST00000395749.2	-	8	644	c.568G>T	c.(568-570)Gcg>Tcg	p.A190S	CAMK2B_ENST00000347193.4_Missense_Mutation_p.A190S|CAMK2B_ENST00000457475.1_Missense_Mutation_p.A190S|CAMK2B_ENST00000258682.6_Missense_Mutation_p.A190S|CAMK2B_ENST00000440254.2_Missense_Mutation_p.A190S|CAMK2B_ENST00000358707.3_Missense_Mutation_p.A190S|CAMK2B_ENST00000502837.2_Missense_Mutation_p.A61S|CAMK2B_ENST00000346990.4_Missense_Mutation_p.A190S|CAMK2B_ENST00000350811.3_Missense_Mutation_p.A190S|CAMK2B_ENST00000395747.2_Missense_Mutation_p.A190S|CAMK2B_ENST00000353625.4_Missense_Mutation_p.A190S	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	190	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TTGCCATACGCCTCTTTGCGA	0.617000													5	37					0.0215528	0.021704	1	1	0
TUBG2	27175	broad.mit.edu	37	17	40818353	40818353	+	Silent	SNP	C	C	T	rs523338		TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr17:40818353C>T	ENST00000251412.7	+	10	1208	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	337					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	p.L337L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CCACAAGAGCCTGCAGAGGAT	0.672000													4	35					0	0	1	0	0
MTMR6	9107	broad.mit.edu	37	13	25823472	25823472	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr13:25823472G>T	ENST00000381801.5	-	14	2525	c.1764C>A	c.(1762-1764)agC>agA	p.S588R	MTMR6_ENST00000540661.1_Intron	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	588						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CTGCCGGGCTGCTGCCCTCTA	0.428000													12	54					0.00010058	0.000106518	1	1	0
TRAK1	22906	broad.mit.edu	37	3	42236344	42236344	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:42236344G>A	ENST00000327628.5	+	10	1424	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Missense_Mutation_p.E268K|TRAK1_ENST00000396175.1_Missense_Mutation_p.E284K|TRAK1_ENST00000341421.3_Missense_Mutation_p.E284K	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	342	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GATGCTGCATGAGGCGCAGGA	0.582000													4	18					0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45680689	45680689	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr21:45680689C>T	ENST00000270172.3	-	3	623	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	DNMT3L_ENST00000418993.1_Missense_Mutation_p.R47Q	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	47	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TTCTATATTTCGCTGGTTAGC	0.453000													4	132					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100617628	100617628	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:100617628G>A	ENST00000471714.1	-	4	569	c.460C>T	c.(460-462)Cca>Tca	p.P154S	ABI3BP_ENST00000495063.1_Missense_Mutation_p.P154S|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P154S			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	154	Fibronectin type-III 1.					extracellular space		p.P154T(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGTGACTTGGCAATGTCCAG	0.458000													9	37					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936981	15936981	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:15936981G>T	ENST00000504595.1	+	4	1643	c.1162G>T	c.(1162-1164)Ggc>Tgc	p.G388C	FBXL7_ENST00000510662.1_Missense_Mutation_p.G341C|FBXL7_ENST00000329673.7_Missense_Mutation_p.G376C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	388					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.G388C(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GGGCTGCGAGGGCATCACGGA	0.622000													5	22					0.000602214	0.00061727	1	1	0
C1QL3	389941	broad.mit.edu	37	10	16562644	16562644	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr10:16562644C>T	ENST00000298943.3	-	1	1360	c.421G>A	c.(421-423)Gag>Aag	p.E141K		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	141	C1q.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TTGAGCACCTCGTAGCCTTCA	0.642000													14	63					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728764	20728764	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:20728764G>A	ENST00000427401.4	-	4	339	c.245C>T	c.(244-246)gCc>gTc	p.A82V		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	82					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AAGATCTCGGGCAAAATGAGA	0.318000													6	36					0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61887442	61887442	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:61887442C>T	ENST00000325324.6	+	28	2790	c.2621C>T	c.(2620-2622)tCa>tTa	p.S874L	IPO11_ENST00000409296.3_Missense_Mutation_p.S914L|IPO11_ENST00000409534.1_5'UTR	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	874						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		ATAAACATTTCAGTAGAAGGC	0.318000													3	41					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161166023	161166023	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:161166023C>G	ENST00000367996.5	-	3	1456	c.1028G>C	c.(1027-1029)cGg>cCg	p.R343P	ADAMTS4_ENST00000367995.3_3'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4		Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.R343Q(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGCACAGCTCCGAGCCGGGTC	0.562000													10	36					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177605147	177605147	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr4:177605147C>T	ENST00000280193.2	-	7	1608	c.1193G>A	c.(1192-1194)gGa>gAa	p.G398E	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	398					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ATATGAAAATCCTGGCTCACA	0.413000													19	75					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096885	167096885	+	Silent	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:167096885G>A	ENST00000361200.2	+	6	2683	c.2517G>A	c.(2515-2517)aaG>aaA	p.K839K	DUSP27_ENST00000271385.5_Silent_p.K839K|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.K839K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	839					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TTGGCCGGAAGGAGAAGGAGA	0.512000													11	47					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466879	56466879	+	Silent	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:56466879C>A	ENST00000291971.3	+	3	1526	c.1455C>A	c.(1453-1455)acC>acA	p.T485T	NLRP8_ENST00000590542.1_Silent_p.T485T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	485	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGGGAGTCACCGCCTTCCTTG	0.488000													27	106					4.59853e-10	5.15538e-10	1	1	0
PFKFB3	5209	broad.mit.edu	37	10	6258109	6258109	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr10:6258109G>T	ENST00000379775.4	+	4	651	c.321G>T	c.(319-321)ttG>ttT	p.L107F	PFKFB3_ENST00000379785.1_Missense_Mutation_p.L107F|PFKFB3_ENST00000536985.1_Missense_Mutation_p.L87F|PFKFB3_ENST00000360521.2_Missense_Mutation_p.L107F|PFKFB3_ENST00000317350.4_Missense_Mutation_p.L107F|PFKFB3_ENST00000540253.1_Missense_Mutation_p.L121F|PFKFB3_ENST00000379782.3_Missense_Mutation_p.L107F|PFKFB3_ENST00000379789.4_Missense_Mutation_p.L87F	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	107	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TAGCTGCCTTGAGAGATGTCA	0.592000													21	111					1.22574e-08	1.34784e-08	1	1	0
GNA11	2767	broad.mit.edu	37	19	3110265	3110265	+	Silent	SNP	C	C	T	rs140204057	by1000genomes	TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:3110265C>T	ENST00000078429.4	+	2	497	c.255C>T	c.(253-255)acC>acT	p.T85T		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	85					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		ACATCTTCACCGCCATGCAGG	0.617000			Mis		uveal melanoma								8	33					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131466498	131466498	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:131466498G>T	ENST00000261654.5	+	5	939	c.380G>T	c.(379-381)gGa>gTa	p.G127V	GPR133_ENST00000535015.1_Missense_Mutation_p.G159V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	127					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCGTATGGGGGACAGGTCATC	0.507000													17	94					1.33834e-09	1.48302e-09	1	1	0
AREL1	9870	broad.mit.edu	37	14	75142407	75142407	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr14:75142407G>A	ENST00000356357.4	-	8	1590	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		CCAACCTTTGGTGACACATAG	0.478000													31	368					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57965104	57965104	+	Splice_Site	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:57965104G>A	ENST00000455537.2	+	13	1568	c.1294G>A	c.(1294-1296)Gat>Aat	p.D432N	KIF5A_ENST00000286452.5_Splice_Site_p.D343N	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	432					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCTCCAACAGGATGATGAAAT	0.478000													14	21					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276496	150276496	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:150276496A>G	ENST00000446148.2	-	7	780	c.353T>C	c.(352-354)tTg>tCg	p.L118S	ZNF300_ENST00000274599.5_Missense_Mutation_p.L102S|ZNF300_ENST00000418587.2_Missense_Mutation_p.L66S|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.L102S	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACTGTCCCCAAAATACATGA	0.393000													16	60					0	0	1	0	0
NAGA	4668	broad.mit.edu	37	22	42463220	42463220	+	Silent	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr22:42463220G>A	ENST00000396398.3	-	4	931	c.399C>T	c.(397-399)acC>acT	p.T133T	NAGA_ENST00000403363.1_Silent_p.T133T|NAGA_ENST00000402937.1_Silent_p.T133T	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	133					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGTCCAGTGTGGTGCCTGGGT	0.607000													35	128					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99312265	99312265	+	Silent	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr7:99312265A>G	ENST00000336374.2	-	8	713	c.711T>C	c.(709-711)aaT>aaC	p.N237N		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	237					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					ACACAGTGATATTTAATGCTT	0.333000													17	82					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89805631	89805631	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr16:89805631G>C	ENST00000389301.3	-	41	4107	c.4077C>G	c.(4075-4077)gaC>gaG	p.D1359E	FANCA_ENST00000568369.1_Missense_Mutation_p.D1359E|ZNF276_ENST00000289816.5_3'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1359			D -> Y (in FA).		DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TCAAGTACATGTCCACAGCAA	0.537000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	28					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47869415	47869415	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:47869415T>C	ENST00000378460.2	-	2	345	c.299A>G	c.(298-300)aAc>aGc	p.N100S	NUP160_ENST00000530326.1_5'UTR|NUP160_ENST00000526870.1_Missense_Mutation_p.N100S|NUP160_ENST00000532747.1_Missense_Mutation_p.N66S	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	100					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AATGAACCTGTTTCTGGTTAC	0.493000													8	51					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117108961	117108961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr9:117108961G>A	ENST00000307564.4	-	17	3663	c.3502C>T	c.(3502-3504)Cga>Tga	p.R1168*	AKNA_ENST00000374075.5_Nonsense_Mutation_p.R1087*|AKNA_ENST00000223791.3_Nonsense_Mutation_p.R628*|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Nonsense_Mutation_p.R1168*|AKNA_ENST00000374079.4_Nonsense_Mutation_p.R113*	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGGGACAGTCGGAGCACCTCC	0.562000													12	19					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039609	31039609	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:31039609C>T	ENST00000355537.3	+	4	3230	c.3083C>T	c.(3082-3084)gCg>gTg	p.A1028V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1028					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTGGGCAAAGCGAAACGCAAA	0.542000													23	61					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62777939	62777939	+	Silent	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:62777939A>G	ENST00000280377.5	+	11	1387	c.1329A>G	c.(1327-1329)aaA>aaG	p.K443K	USP15_ENST00000353364.3_Silent_p.K414K|USP15_ENST00000393654.3_Silent_p.K418K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	443					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GCCTTTTCAAATCAACTTTAG	0.368000													7	42					0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30557541	30557541	+	Splice_Site	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:30557541C>G	ENST00000448418.2	-	3	670	c.310G>C	c.(310-312)Gga>Cga	p.G104R	MPPED2_ENST00000358117.5_Splice_Site_p.G104R	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	104					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CATTCCTTACCTAACCAGTCA	0.502000													6	26					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205902136	205902136	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:205902136T>C	ENST00000367135.3	-	3	315	c.202A>G	c.(202-204)Aaa>Gaa	p.K68E	SLC26A9_ENST00000367134.2_Missense_Mutation_p.K68E|SLC26A9_ENST00000340781.4_Missense_Mutation_p.K68E	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	68						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ATGTAGTCTTTAATCTTGTAC	0.552000													8	28					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720089	50720089	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr22:50720089G>A	ENST00000449103.1	-	21	3568	c.3428C>T	c.(3427-3429)aCg>aTg	p.T1143M	PLXNB2_ENST00000359337.4_Missense_Mutation_p.T1143M			O15031	PLXB2_HUMAN	plexin B2	1143					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.T1186M(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCGGTCTCCGTCAGCGTCTT	0.657000													8	36					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76029019	76029019	+	Silent	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:76029019C>T	ENST00000319211.4	+	2	1234	c.969C>T	c.(967-969)atC>atT	p.I323I		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	323					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	GCATCTTCATCATTTGCTTCG	0.502000													5	71					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443138	150443138	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:150443138A>G	ENST00000401000.4	+	10	1701	c.1636A>G	c.(1636-1638)Acc>Gcc	p.T546A	RPRD2_ENST00000539519.1_Missense_Mutation_p.T546A|RPRD2_ENST00000369068.4_Missense_Mutation_p.T572A|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	572	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CACAGTCTCTACCATAAAGGG	0.478000													5	26					0	0	1	0	0
PSTK	118672	broad.mit.edu	37	10	124740062	124740062	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr10:124740062C>G	ENST00000405485.1	+	1	133	c.67C>G	c.(67-69)Ctc>Gtc	p.L23V	PSTK_ENST00000368887.3_Missense_Mutation_p.L23V			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	23							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		CCTCTGCGTCCTCTGTGGCCT	0.677000											OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	9					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24662252	24662252	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr14:24662252T>C	ENST00000530611.1	-	7	1229	c.1196A>G	c.(1195-1197)gAt>gGt	p.D399G	TM9SF1_ENST00000528669.1_Missense_Mutation_p.D190G|TM9SF1_ENST00000524835.1_Missense_Mutation_p.D103G|TM9SF1_ENST00000556387.1_Missense_Mutation_p.D399G|TM9SF1_ENST00000261789.4_Missense_Mutation_p.D190G|TM9SF1_ENST00000396854.4_Missense_Mutation_p.D190G			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	190					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TCGTAACCCATCCAAGCTGTG	0.537000													14	42					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102040593	102040593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:102040593C>T	ENST00000549145.1	+	12	1082	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	MYBPC1_ENST00000550270.1_Nonsense_Mutation_p.Q315*|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.Q340*|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.Q303*|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.Q315*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.Q296*|MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.Q289*|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.Q301*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.Q340*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.Q302*|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.Q315*|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.Q315*|MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.Q216*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.Q315*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.Q315*			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	315	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CAATAACTGTCAGATGACAGA	0.358000													14	50					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120463680	120463680	+	Silent	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr4:120463680C>T	ENST00000354960.3	-	10	1825	c.1506G>A	c.(1504-1506)ggG>ggA	p.G502G	PDE5A_ENST00000264805.5_Silent_p.G460G|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000512739.1_5'UTR|PDE5A_ENST00000394439.1_Silent_p.G450G	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	502	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TGTTCTGGATCCCCAAGCCAC	0.458000													17	58					0	0	1	0	0
KHSRP	8570	broad.mit.edu	37	19	6418756	6418756	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:6418756C>A	ENST00000398148.3	-	8	829	c.737G>T	c.(736-738)gGc>gTc	p.G246V		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	246	Gly-rich.|KH 2.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						AATGACCAGGCCGGCCTTGCC	0.677000													8	50					0.000274275	0.000284177	1	1	0
ABCC10	89845	broad.mit.edu	37	6	43403613	43403613	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr6:43403613C>G	ENST00000244533.3	+	3	1963	c.1604C>G	c.(1603-1605)cCa>cGa	p.P535R	ABCC10_ENST00000372530.4_Missense_Mutation_p.P578R	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	578	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTCGACCTTCCAAACCACAAC	0.562000													25	57					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101750853	101750853	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:101750853G>C	ENST00000261637.4	+	43	5858	c.5684G>C	c.(5683-5685)gGa>gCa	p.G1895A		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1895					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTTGTCCGTGGATACCAGGTA	0.383000													6	48					0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691042	39691042	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:39691042C>T	ENST00000339852.4	+	5	627	c.605C>T	c.(604-606)gCg>gTg	p.A202V		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	202	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGGCTGCTGGCGGCCGACCGC	0.672000													25	96					0	0	1	0	0
OR56B4	196335	broad.mit.edu	37	11	6129139	6129139	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:6129139C>T	ENST00000316529.3	+	1	226	c.131C>T	c.(130-132)gCt>gTt	p.A44V		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCTCTTAGCTCTTGGTGCC	0.502000													6	51					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5232609	5232609	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:5232609T>G	ENST00000274181.7	+	12	1968	c.1830T>G	c.(1828-1830)agT>agG	p.S610R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	610	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTCATAGGAGTCGCCTCTGCA	0.562000													11	61					0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70687340	70687340	+	Silent	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:70687340C>T	ENST00000370950.3	+	2	103	c.21C>T	c.(19-21)gtC>gtT	p.V7V	SRSF11_ENST00000370951.1_Silent_p.V7V|SRSF11_ENST00000405432.1_Silent_p.V7V|SRSF11_ENST00000436161.2_Silent_p.V7V|SRSF11_ENST00000454435.2_Silent_p.V7V			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	7					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						CTACCGTCGTCCCCAGCACTG	0.637000													9	86					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71714955	71714955	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:71714955G>A	ENST00000393695.3	-	26	6645	c.6314C>T	c.(6313-6315)gCc>gTc	p.A2105V	NUMA1_ENST00000351960.6_Missense_Mutation_p.A969V|NUMA1_ENST00000358965.6_Missense_Mutation_p.A2091V	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2105					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCGAGGGGTGGCACCAATGGC	0.667000			T	RARA	APL								15	29					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	T	rs104894229		TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:534289C>T	ENST00000417302.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			4	31					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42866627	42866627	+	Missense_Mutation	SNP	A	A	G	rs145333681		TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr13:42866627A>G	ENST00000025301.2	+	4	333	c.158A>G	c.(157-159)aAt>aGt	p.N53S		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	53					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAGCATGCCAATTTAACTGAG	0.363000													3	76					0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100912483	100912483	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chrX:100912483C>T	ENST00000328766.5	-	5	545	c.92G>A	c.(91-93)aGa>aAa	p.R31K	ARMCX2_ENST00000356824.4_Missense_Mutation_p.R31K|ARMCX2_ENST00000330154.2_Missense_Mutation_p.R31K|ARMCX2_ENST00000467416.1_5'UTR	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	31						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GGTCTGGTCTCTCCCCCTGGT	0.592000													16	25					0	0	1	0	0
AMN1	196394	broad.mit.edu	37	12	31850846	31850846	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:31850846G>C	ENST00000281471.6	-	4	527	c.362C>G	c.(361-363)tCt>tGt	p.S121C	AMN1_ENST00000541931.1_5'UTR|AMN1_ENST00000537562.1_Missense_Mutation_p.S103C|AMN1_ENST00000536761.1_Missense_Mutation_p.S103C|AMN1_ENST00000542781.1_5'UTR	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	121										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			TCTTTTCAAAGAAGCTTCGTG	0.383000													12	50					0	0	1	0	0
CABLES1	91768	broad.mit.edu	37	18	20833798	20833798	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr18:20833798A>T	ENST00000256925.7	+	9	1659	c.1659A>T	c.(1657-1659)aaA>aaT	p.K553N	CABLES1_ENST00000420687.2_Missense_Mutation_p.K288N|CABLES1_ENST00000585061.1_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Missense_Mutation_p.K226N	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	553					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCAAGGGGAAACTCAACAAAC	0.517000													10	46					0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54675780	54675780	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:54675780A>G	ENST00000605337.1	+	4	856	c.808A>G	c.(808-810)Att>Gtt	p.I270V	MRPL37_ENST00000360840.5_Missense_Mutation_p.I270V|MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000336230.6_Missense_Mutation_p.I139V			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	270					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						TGAATGCAATATTTATGATGT	0.428000													21	75					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235228	21235228	+	Silent	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:21235228A>G	ENST00000233242.1	-	26	4639	c.4512T>C	c.(4510-4512)tcT>tcC	p.S1504S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1504					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCCTCTGACAAGACAGGCCAT	0.463000													20	60					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													4	74					0	0	1	0	0
RBMS1	5937	broad.mit.edu	37	2	161138808	161138808	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:161138808T>G	ENST00000392753.3	-	10	1053	c.899A>C	c.(898-900)aAg>aCg	p.K300T	RBMS1_ENST00000348849.3_Intron|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Intron|RBMS1_ENST00000409972.1_Intron|RBMS1_ENST00000409075.1_Intron			P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	300					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								TCTGGTTTCCTTTGCCACCTA	0.458000													19	60					0	0	1	0	0
FSTL1	11167	broad.mit.edu	37	3	120122193	120122193	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:120122193C>A	ENST00000295633.3	-	8	946	c.590G>T	c.(589-591)tGt>tTt	p.C197F	FSTL1_ENST00000424703.2_Missense_Mutation_p.C162F	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	197	EF-hand 2.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		AGCATCAACACAGAGTCCCCT	0.468000													10	44					3.86212e-05	4.10529e-05	1	1	0
SLC5A7	60482	broad.mit.edu	37	2	108614419	108614419	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:108614419C>G	ENST00000264047.2	+	5	850	c.574C>G	c.(574-576)Ctc>Gtc	p.L192V	SLC5A7_ENST00000409059.1_Missense_Mutation_p.L192V|SLC5A7_ENST00000540517.1_Missense_Mutation_p.L87V	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	192					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGTCGTTCAGCTCTTTTGCAT	0.418000													27	77					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375143	113375143	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:113375143G>C	ENST00000316407.4	-	7	5796	c.5386C>G	c.(5386-5388)Cca>Gca	p.P1796A	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.P1796A	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1796					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTCTGAACTGGTGGGTAAGAT	0.468000													44	180					0	0	1	0	0
GTF2H3	2967	broad.mit.edu	37	12	124144444	124144444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:124144444G>T	ENST00000543341.2	+	11	818	c.787G>T	c.(787-789)Gaa>Taa	p.E263*	GTF2H3_ENST00000228955.7_Nonsense_Mutation_p.E222*	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	263					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		AAATCTCATTGAAATTGGTTA	0.418000								Nucleotide excision repair (NER)					32	78					7.11191e-15	8.16447e-15	1	1	0
STAM	8027	broad.mit.edu	37	10	17730077	17730077	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr10:17730077G>A	ENST00000377524.3	+	5	564	c.349G>A	c.(349-351)Gat>Aat	p.D117N	STAM_ENST00000540523.1_Missense_Mutation_p.D6N	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	117	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TGAATGGACAGATGAATTTAA	0.353000													35	62					0	0	1	0	0
HOXA2	3199	broad.mit.edu	37	7	27140643	27140643	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr7:27140643G>A	ENST00000222718.5	-	2	1143	c.833C>T	c.(832-834)aCc>aTc	p.T278I		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	278						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						CTCATTGCTGGTTAAAGGCGA	0.493000													15	80					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837857	82837857	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:82837857C>T	ENST00000265077.3	+	8	9600	c.9035C>T	c.(9034-9036)cCt>cTt	p.P3012L	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P2025L|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3012	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAAATAAACCCTGAAACTCAA	0.502000													20	41					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26647275	26647275	+	Splice_Site	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:26647275T>C	ENST00000381340.3	-	39	5599		c.e39-2			NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2						activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AAAAGCTTCCTGTGATTGGGA	0.284000													10	18					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51908479	51908479	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr6:51908479G>C	ENST00000371117.3	-	26	3040	c.2765C>G	c.(2764-2766)tCt>tGt	p.S922C	PKHD1_ENST00000340994.4_Missense_Mutation_p.S922C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	922					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTACTGGAAAGAGCAGGAACC	0.463000													8	33					0	0	1	0	0
TTC24	164118	broad.mit.edu	37	1	156553130	156553130	+	Splice_Site	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:156553130G>A	ENST00000368236.3	+	5	1076	c.1040G>A	c.(1039-1041)gGg>gAg	p.G347E	TTC24_ENST00000368237.3_Splice_Site_p.G347E|TTC24_ENST00000478081.1_Intron	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	347							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTCTCTCAGGGGACATGAAG	0.592000													6	11					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504634	70504634	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:70504634G>T	ENST00000310961.5	+	22	3446	c.3028G>T	c.(3028-3030)Gat>Tat	p.D1010Y	LRRC7_ENST00000415775.2_Missense_Mutation_p.D289Y|LRRC7_ENST00000035383.5_Missense_Mutation_p.D1005Y			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1005						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AATGCTGGATGATGAGATGCT	0.468000													9	29					1.58986e-06	1.71538e-06	1	1	0
TARS	6897	broad.mit.edu	37	5	33455765	33455765	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:33455765G>C	ENST00000265112.3	+	6	960	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q	TARS_ENST00000455217.2_Missense_Mutation_p.E250Q|TARS_ENST00000541634.1_Missense_Mutation_p.E113Q|TARS_ENST00000414361.2_Missense_Mutation_p.E96Q|TARS_ENST00000502553.1_Missense_Mutation_p.E217Q	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	217					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	ACAAGCTTTTGAAAGACTGGA	0.348000													13	62					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114158181	114158181	+	Silent	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr4:114158181A>G	ENST00000357077.4	+	6	575	c.522A>G	c.(520-522)ggA>ggG	p.G174G	ANK2_ENST00000264366.6_Silent_p.G174G|ANK2_ENST00000394537.3_Silent_p.G174G|ANK2_ENST00000506722.1_Silent_p.G153G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	174					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCAGCAAGGACACAACCAGG	0.473000													19	62					0	0	1	0	0
TXLNG	55787	broad.mit.edu	37	X	16846329	16846329	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chrX:16846329C>T	ENST00000380122.5	+	4	672	c.611C>T	c.(610-612)gCa>gTa	p.A204V	TXLNG_ENST00000398155.4_Missense_Mutation_p.A72V	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	204					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GCTATCTTGGCAAGAAGCAAG	0.413000													16	28					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88987031	88987031	+	Splice_Site	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr4:88987031G>A	ENST00000237596.2	+	12	2424	c.2358G>A	c.(2356-2358)agG>agA	p.R786R	PKD2_ENST00000502363.1_Splice_Site_p.R204R|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_Splice_Site_p.R204R	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	786	EF-hand domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AGAAAGAGAGGGTGGGTCTGG	0.443000													9	37					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													4	202					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48874652	48874652	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr8:48874652A>G	ENST00000262105.2	+	3	484	c.275A>G	c.(274-276)tAc>tGc	p.Y92C	MCM4_ENST00000523944.1_Missense_Mutation_p.Y92C	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	92					cell cycle checkpoint|DNA strand elongation involved in DNA replication|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	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CCACTGACATACGGCACTCCC	0.488000													23	68					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12378315	12378315	+	Silent	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:12378315G>T	ENST00000358136.3	+	31	7465	c.7335G>T	c.(7333-7335)gtG>gtT	p.V2445V	VPS13D_ENST00000356315.4_Silent_p.V2445V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2445					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCAAAACTGTGAAGAGTGGAG	0.443000													19	74					4.96729e-08	5.42058e-08	1	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128932222	128932222	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:128932222G>A	ENST00000310343.9	-	9	873	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.P218S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	292	SH3.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACTTTCGGGGGCATGTCAATA	0.368000													3	46					0	0	1	0	0
BTBD6	90135	broad.mit.edu	37	14	105716478	105716478	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr14:105716478C>G	ENST00000463376.2	+	3	1243	c.702C>G	c.(700-702)caC>caG	p.H234Q	BRF1_ENST00000327359.3_Intron|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.H234Q|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000536364.1_Missense_Mutation_p.H309Q|BTBD6_ENST00000392554.3_Missense_Mutation_p.H309Q			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	309						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		AGGAGACCCACAGCATCTTCC	0.612000													4	86					0	0	1	0	0
OSER1	51526	broad.mit.edu	37	20	42826201	42826201	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr20:42826201A>G	ENST00000372970.2	-	6	550	c.370T>C	c.(370-372)Tca>Cca	p.S124P	OSER1_ENST00000255174.2_Missense_Mutation_p.S124P					oxidative stress responsive serine-rich 1																		TTAGGGGATGAAATTCCCAGC	0.473000													30	100					0	0	1	0	0
E2F6	1876	broad.mit.edu	37	2	11586604	11586604	+	Silent	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:11586604C>T	ENST00000381525.3	-	7	1114	c.845G>A	c.(844-846)tGa>tAa	p.*282*	E2F6_ENST00000542100.1_Silent_p.*207*|E2F6_ENST00000546212.1_Silent_p.*207*|E2F6_ENST00000307236.4_Silent_p.*250*|E2F6_ENST00000362009.4_3'UTR	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	0					negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		CAAATGCCATCAGTTGCTTAC	0.353000													8	42					0	0	1	0	0
LRRC24	441381	broad.mit.edu	37	8	145749541	145749541	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr8:145749541C>T	ENST00000529415.2	-	4	677	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	LRRC14_ENST00000292524.1_3'UTR|LRRC14_ENST00000528528.1_Intron|LRRC24_ENST00000533758.1_Missense_Mutation_p.R184Q			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	187						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGGGCCTCTCGGCTGATGGT	0.627000													7	165					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076139	57076139	+	Missense_Mutation	SNP	G	G	A	rs143761660		TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:57076139G>A	ENST00000532437.1	-	5	4357	c.4046C>T	c.(4045-4047)gCg>gTg	p.A1349V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1349V			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1349	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATTCTGGGGCGCCAAGTCCTG	0.647000													37	114					0	0	1	0	0
HOXD1	3231	broad.mit.edu	37	2	177054731	177054731	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:177054731A>G	ENST00000331462.4	+	2	1071	c.848A>G	c.(847-849)aAa>aGa	p.K283R		NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	283						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CGCAGGATGAAACAGAAGAAA	0.512000													22	134					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132204013	132204013	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:132204013G>A	ENST00000261674.4	+	4	676	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E179K	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	179					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AAATGAGGCCGAAAATTTAGA	0.453000													21	45					0	0	1	0	0
STOML1	9399	broad.mit.edu	37	15	74276451	74276451	+	Missense_Mutation	SNP	C	C	T	rs141171144	byFrequency	TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr15:74276451C>T	ENST00000316900.5	-	7	1148	c.1024G>A	c.(1024-1026)Ggg>Agg	p.G342R	STOML1_ENST00000541638.1_Missense_Mutation_p.G299R|STOML1_ENST00000316911.6_Missense_Mutation_p.G292R|STOML1_ENST00000561656.1_Missense_Mutation_p.G254R|STOML1_ENST00000564777.1_Missense_Mutation_p.G291R|STOML1_ENST00000359750.4_Missense_Mutation_p.G271R	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	342	SCP2.					integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TCAGGCACCCCGTGTCCCACT	0.622000													6	18					0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70687345	70687345	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:70687345G>T	ENST00000370950.3	+	2	108	c.26G>T	c.(25-27)aGc>aTc	p.S9I	SRSF11_ENST00000370951.1_Missense_Mutation_p.S9I|SRSF11_ENST00000405432.1_Missense_Mutation_p.S9I|SRSF11_ENST00000436161.2_Missense_Mutation_p.S9I|SRSF11_ENST00000454435.2_Missense_Mutation_p.S9I			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	9					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						GTCGTCCCCAGCACTGCAGGT	0.642000													8	86					1.01871e-10	1.14655e-10	1	1	0
MGA	23269	broad.mit.edu	37	15	42019568	42019568	+	Silent	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr15:42019568A>G	ENST00000219905.7	+	10	3802	c.3621A>G	c.(3619-3621)aaA>aaG	p.K1207K	MGA_ENST00000389936.4_Silent_p.K1207K|MGA_ENST00000545763.1_Silent_p.K1207K|MGA_ENST00000570161.1_Silent_p.K1207K|MGA_ENST00000566586.1_Silent_p.K1207K	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1207						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTGGAATTAAATCTCCACGGT	0.413000													27	96					0	0	1	0	0
ZXDC	79364	broad.mit.edu	37	3	126191040	126191040	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:126191040T>C	ENST00000389709.3	-	2	1069	c.1016A>G	c.(1015-1017)tAt>tGt	p.Y339C	ZXDC_ENST00000336332.5_Missense_Mutation_p.Y339C	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	339					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGCTTTATCATACTGCTTGCT	0.488000													19	45					0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76128930	76128930	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:76128930G>A	ENST00000296677.4	+	2	704	c.498G>A	c.(496-498)atG>atA	p.M166I		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	166					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TTCTCTTCATGACCTGCCTCA	0.473000													38	151					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109066134	109066134	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:109066134G>C	ENST00000309863.6	+	2	766	c.52G>C	c.(52-54)Ggg>Cgg	p.G18R		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	18					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CCCTGGGACCGGGAAATCTAA	0.493000													24	60					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153068841	153068841	+	Silent	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chrX:153068841G>C	ENST00000164640.4	-	8	2468	c.2277C>G	c.(2275-2277)gtC>gtG	p.V759V	PDZD4_ENST00000544474.1_Silent_p.V650V|PDZD4_ENST00000393758.2_Silent_p.V684V	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	759						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	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)					GAGGGTTGTAGACCCGCTTGC	0.642000													9	3					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84387031	84387031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:84387031G>A	ENST00000260505.8	-	11	1566	c.1189C>T	c.(1189-1191)Caa>Taa	p.Q397*	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	397					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AGCCTCCTTTGAGCCTCAGCT	0.413000													21	69					0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40571448	40571448	+	Silent	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chrX:40571448G>A	ENST00000324817.1	-	7	997	c.879C>T	c.(877-879)taC>taT	p.Y293Y		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	293	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTAGGCAGTTGTACATATCCT	0.413000													43	65					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148993173	148993173	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr4:148993173G>T	ENST00000336498.3	+	23	2541	c.2302G>T	c.(2302-2304)Gaa>Taa	p.E768*	ARHGAP10_ENST00000510076.1_3'UTR|ARHGAP10_ENST00000414545.2_Nonsense_Mutation_p.E366*	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	768	SH3.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TGGCTGGCTAGAAGGGACTCT	0.527000													7	37					5.18039e-06	5.54766e-06	1	1	0
DCDC2	51473	broad.mit.edu	37	6	24302032	24302032	+	Silent	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr6:24302032G>A	ENST00000378454.3	-	4	769	c.468C>T	c.(466-468)ctC>ctT	p.L156L		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	156	Doublecortin 2.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TGGGGATAAGGAGGCGAGAAG	0.438000													27	67					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184566960	184566960	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:184566960C>G	ENST00000287546.4	+	8	814	c.643C>G	c.(643-645)Ctt>Gtt	p.L215V	VPS8_ENST00000446204.2_Missense_Mutation_p.L213V|VPS8_ENST00000437079.3_Missense_Mutation_p.L215V|VPS8_ENST00000436792.2_Missense_Mutation_p.L213V	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	215							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CTCAAGACTTCTTTGTGGCTT	0.388000													9	37					0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54578149	54578149	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chrX:54578149A>G	ENST00000336470.4	+	11	1151	c.1012A>G	c.(1012-1014)Atc>Gtc	p.I338V	GNL3L_ENST00000360845.2_Missense_Mutation_p.I338V	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	338					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						AGTGGAGACCATCCTGCAGCG	0.617000													18	19					0	0	1	0	0
FHL1	2273	broad.mit.edu	37	X	135289283	135289283	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chrX:135289283T>C	ENST00000543669.1	+	3	976	c.265T>C	c.(265-267)Tgc>Cgc	p.C89R	FHL1_ENST00000345434.3_Missense_Mutation_p.C89R|FHL1_ENST00000394153.2_Missense_Mutation_p.C89R|FHL1_ENST00000394155.2_Missense_Mutation_p.C89R|FHL1_ENST00000370676.3_Missense_Mutation_p.C105R|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000539015.1_Missense_Mutation_p.C118R|FHL1_ENST00000535737.1_Missense_Mutation_p.C89R|FHL1_ENST00000370690.3_Missense_Mutation_p.C89R|FHL1_ENST00000370683.1_Missense_Mutation_p.C105R	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	89	LIM zinc-binding 1.			VAKDNKILCNK -> CGQGQQRSCAQ (in Ref. 4; AAD21579).	cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CAAGATCCTGTGCAACAAGTG	0.582000													29	40					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196799388	196799388	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:196799388G>A	ENST00000312428.6	-	21	3498	c.3398C>T	c.(3397-3399)aCa>aTa	p.T1133I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1133	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGCTTTGGCTGTTGAAATAAT	0.388000													22	120					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54396620	54396620	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:54396620G>T	ENST00000263431.3	+	9	1196	c.914G>T	c.(913-915)tGt>tTt	p.C305F	PRKCG_ENST00000536044.1_Missense_Mutation_p.V276L|PRKCG_ENST00000540413.1_Missense_Mutation_p.C305F|PRKCG_ENST00000542049.1_Missense_Mutation_p.C192F	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	305					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TCCCAGGCTTGTAACTACCCC	0.522000													23	105					1.42536e-11	1.61691e-11	1	1	0
RBP3	5949	broad.mit.edu	37	10	48388319	48388319	+	Silent	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr10:48388319C>T	ENST00000224600.4	-	1	2672	c.2559G>A	c.(2557-2559)gaG>gaA	p.E853E		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	853	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGCAAAGGCCTCGGCCGCAG	0.662000													6	21					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45706894	45706894	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr14:45706894T>C	ENST00000310806.4	-	5	1632	c.1174A>G	c.(1174-1176)Agc>Ggc	p.S392G		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	392					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTATTGATGCTTTTAATCATC	0.269000													23	69					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472708	47472708	+	Silent	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:47472708C>T	ENST00000266581.4	-	2	544	c.78G>A	c.(76-78)ttG>ttA	p.L26L	AMIGO2_ENST00000321382.3_Silent_p.L26L|AMIGO2_ENST00000429635.1_Silent_p.L26L|AMIGO2_ENST00000550413.1_Silent_p.L26L	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	26					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TGATCATCAGCAAACACAGCA	0.582000													9	70					0	0	1	0	0
MPI	4351	broad.mit.edu	37	15	75183823	75183823	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr15:75183823G>A	ENST00000352410.4	+	3	315	c.248G>A	c.(247-249)gGc>gAc	p.G83D	MPI_ENST00000323744.6_Missense_Mutation_p.G83D|MPI_ENST00000564003.1_Missense_Mutation_p.G33D|MPI_ENST00000535694.1_Missense_Mutation_p.G33D|MPI_ENST00000563786.1_Missense_Mutation_p.G63D|MPI_ENST00000562606.1_Missense_Mutation_p.G63D|MPI_ENST00000566377.1_Missense_Mutation_p.G83D|MPI_ENST00000565576.1_Missense_Mutation_p.G83D|MPI_ENST00000563422.1_Missense_Mutation_p.G83D			P34949	MPI_HUMAN	mannose phosphate isomerase	83					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GACAGCTTGGGCTCAAAGGTC	0.537000													38	148					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197189745	197189745	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:197189745T>C	ENST00000260983.3	-	6	882	c.700A>G	c.(700-702)Act>Gct	p.T234A	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGATGATAGTAGACCGTCTC	0.507000													28	140					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1267728	1267728	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:1267728C>G	ENST00000447027.1	+	31	9685	c.9627C>G	c.(9625-9627)atC>atG	p.I3209M	MUC5B_ENST00000529681.1_Missense_Mutation_p.I3206M|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3206	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACAGTCATCAGCTCCAGAG	0.647000													4	156					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023726	6023726	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:6023726G>A	ENST00000330728.4	-	1	698	c.653C>T	c.(652-654)tCt>tTt	p.S218F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCCTGGCAGAAAGCATGGG	0.463000													8	26					0	0	1	0	0
OSER1	51526	broad.mit.edu	37	20	42826138	42826138	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr20:42826138C>T	ENST00000372970.2	-	6	613	c.433G>A	c.(433-435)Gca>Aca	p.A145T	OSER1_ENST00000255174.2_Missense_Mutation_p.A145T					oxidative stress responsive serine-rich 1																		TCAACGACTGCCCCTGTGTGA	0.512000													22	89					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40102700	40102700	+	Splice_Site	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr7:40102700G>A	ENST00000181839.4	+	9	3385		c.e9+1		CDK13_ENST00000484589.1_Splice_Site|CDK13_ENST00000340829.5_Splice_Site	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13						alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AATTAATAAGGTAAGCTGCTG	0.368000													4	38					0	0	1	0	0
MEIOB	254528	broad.mit.edu	37	16	1889287	1889287	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr16:1889287C>T	ENST00000412554.2	-	12	1381	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E	MEIOB_ENST00000470044.1_Missense_Mutation_p.G189E|MEIOB_ENST00000325962.3_Missense_Mutation_p.G396E|MEIOB_ENST00000452149.2_Missense_Mutation_p.G396E|FAHD1_ENST00000382668.4_Missense_Mutation_p.P221S|MEIOB_ENST00000397344.3_Missense_Mutation_p.G396E|FAHD1_ENST00000382666.4_3'UTR	NM_001163560.2	NP_001157032.1			meiosis specific with OB domains																		AGCAACACTTCCTGTGAGACT	0.388000													9	36					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66945116	66945116	+	Silent	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr16:66945116G>C	ENST00000299752.4	-	14	2086	c.1893C>G	c.(1891-1893)acC>acG	p.T631T	CDH16_ENST00000568632.1_Silent_p.T534T|CDH16_ENST00000565796.1_Silent_p.T631T|CDH16_ENST00000570262.1_Silent_p.T551T|CDH16_ENST00000394055.3_Silent_p.T631T	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	631	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCACCGTGTAGGTGTCCCCAG	0.617000													8	24					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140278630	140278630	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr4:140278630C>T	ENST00000296543.5	+	11	1501	c.1178C>T	c.(1177-1179)gCt>gTt	p.A393V	NAA15_ENST00000398947.1_Missense_Mutation_p.A393V	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	393					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CCATCTATTGCTTTGGAGTAC	0.348000													8	42					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21804683	21804683	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:21804683G>A	ENST00000318220.6	+	12	1919	c.871G>A	c.(871-873)Gat>Aat	p.D291N	NBPF3_ENST00000454000.2_Missense_Mutation_p.D277N|NBPF3_ENST00000342104.5_Missense_Mutation_p.D372N|NBPF3_ENST00000318249.5_Missense_Mutation_p.D347N			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	347	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAGTCCTGGGATGAAGGTGA	0.512000													56	176					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11300831	11300831	+	Silent	SNP	T	T	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:11300831T>G	ENST00000397056.1	+	3	299	c.108T>G	c.(106-108)acT>acG	p.T36T	HRH1_ENST00000438284.2_Silent_p.T36T|HRH1_ENST00000431010.2_Silent_p.T36T	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	36					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCCTGAGCACTATCTGCTTGG	0.572000													14	52					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75183750	75183750	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr7:75183750G>A	ENST00000336926.6	-	20	2065	c.2039C>T	c.(2038-2040)gCc>gTc	p.A680V	HIP1_ENST00000434438.2_Missense_Mutation_p.A680V	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	680					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTCTGGGCAGGCCAGATACTG	0.557000			T	PDGFRB	CMML								7	45					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28788315	28788315	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr17:28788315A>T	ENST00000225719.4	+	18	3692	c.3616A>T	c.(3616-3618)Agt>Tgt	p.S1206C	CPD_ENST00000543464.2_Missense_Mutation_p.S959C	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1206	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ATCTCTTCTTAGTATGTTAGT	0.408000													40	43					0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10169269	10169269	+	RNA	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:10169269A>G	ENST00000495140.1	+	0	1821																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TCCGAGGAGGATGTATCCCTC	0.547000													9	60					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:57485457T>C	ENST00000300131.3	+	2	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P	NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	211					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.P211P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTCCCCCCCTGCAGGGGGAG	0.711000													4	30					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185191450	185191450	+	Silent	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:185191450A>G	ENST00000265026.3	+	11	2665	c.2331A>G	c.(2329-2331)gaA>gaG	p.E777E	MAP3K13_ENST00000424227.1_Silent_p.E777E|MAP3K13_ENST00000535426.1_Silent_p.E633E|MAP3K13_ENST00000446828.1_Silent_p.E570E|MAP3K13_ENST00000443863.1_Silent_p.E633E	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	777					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGAAAACGGAAGAAAATGAAT	0.542000													33	146					0	0	1	0	0
MRPL49	740	broad.mit.edu	37	11	64893219	64893219	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr11:64893219G>T	ENST00000279242.2	+	4	395	c.376G>T	c.(376-378)Gat>Tat	p.D126Y	MRPL49_ENST00000534078.1_3'UTR|MRPL49_ENST00000531705.1_Intron|MRPL49_ENST00000524482.1_3'UTR	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	126					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|ovary(1)	2						AGACGTGGAAGATTTTCTGAG	0.537000													35	105					1.90571e-15	2.2054e-15	1	1	0
KPNA4	3840	broad.mit.edu	37	3	160248719	160248719	+	Silent	SNP	T	T	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:160248719T>C	ENST00000334256.4	-	7	698	c.393A>G	c.(391-393)ttA>ttG	p.L131L		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	131					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CTTCAAACTGTAAAGAAGGAC	0.338000													10	35					0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57545297	57545297	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr3:57545297A>G	ENST00000311180.8	+	3	1499	c.1396A>G	c.(1396-1398)Att>Gtt	p.I466V	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	466							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AGGTGGGTATATTCGCCTCAT	0.333000													11	65					0	0	1	0	0
HIST1H2AD	3013	broad.mit.edu	37	6	26199132	26199132	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr6:26199132C>G	ENST00000341023.1	-	1	339	c.340G>C	c.(340-342)Gct>Cct	p.A114P	HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	114					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				AGCAGTACAGCCTGGATGTTG	0.512000													24	68					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57012711	57012711	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr6:57012711A>G	ENST00000370706.4	+	10	2072	c.1828A>G	c.(1828-1830)Att>Gtt	p.I610V	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.I610V|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.I610V	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	610					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GCAATGCCGGATTTGTGAAGA	0.413000													22	51					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73572631	73572631	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr10:73572631G>C	ENST00000224721.6	+	67	9637	c.9632G>C	c.(9631-9633)cGt>cCt	p.R3211P	CDH23_ENST00000398788.3_Missense_Mutation_p.R966P|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3206					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.R3211H(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGATCATTCGTGAGGGGCCA	0.597000													6	16					0	0	1	0	0
OSBPL9	114883	broad.mit.edu	37	1	52238337	52238338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:52238337_52238338insC	ENST00000371710.3	+	14	1348_1349	c.1166_1167insC	c.(1165-1170)cacaagfs	p.K390fs	OSBPL9_ENST00000361556.5_Frame_Shift_Ins_p.K262fs|OSBPL9_ENST00000462759.1_Frame_Shift_Ins_p.K194fs|OSBPL9_ENST00000337809.4_Frame_Shift_Ins_p.K377fs|OSBPL9_ENST00000486942.1_Frame_Shift_Ins_p.K194fs|OSBPL9_ENST00000371714.1_Frame_Shift_Ins_p.K359fs|OSBPL9_ENST00000530544.1_Frame_Shift_Ins_p.K291fs|OSBPL9_ENST00000435686.2_Frame_Shift_Ins_p.K207fs|OSBPL9_ENST00000428468.1_Frame_Shift_Ins_p.K372fs|OSBPL9_ENST00000453295.1_Frame_Shift_Ins_p.K355fs|OSBPL9_ENST00000531828.1_Frame_Shift_Ins_p.K207fs|OSBPL9_ENST00000447887.1_Frame_Shift_Ins_p.K382fs	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	372					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						GTGGAGGAGCACAAGAGCGTTA	0.421													19	106	---	---	---	---					
PTGFRN	5738	broad.mit.edu	37	1	117504133	117504134	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr1:117504133_117504134insA	ENST00000393203.2	+	5	1629_1630	c.1482_1483insA	c.(1483-1485)acafs	p.T495fs		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	495	Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CTAAGGAACATACAGACACGTT	0.495													17	75	---	---	---	---					
RAD51AP2	729475	broad.mit.edu	37	2	17697922	17697923	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:17697922_17697923insA	ENST00000399080.2	-	1	1783_1784	c.1760_1761insT	c.(1759-1761)ttgfs	p.L587fs		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	587										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGTTATTGAGCAAAAAAGCTAT	0.252													17	68	---	---	---	---					
MAP4K3	8491	broad.mit.edu	37	2	39514002	39514006	+	Frame_Shift_Del	DEL	TTTCT	TTTCT	-			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:39514002_39514006delTTTCT	ENST00000263881.3	-	21	1898_1902	c.1574_1578delAGAAA	c.(1573-1578)aagaaafs	p.KK525fs	MAP4K3_ENST00000536018.1_Frame_Shift_Del_p.KK78fs|MAP4K3_ENST00000437545.1_Frame_Shift_Del_p.KK441fs|MAP4K3_ENST00000341681.5_Frame_Shift_Del_p.KK504fs	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	525					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CTGGTACATCTTTCTTTTCTTTTCT	0.341													11	63	---	---	---	---					
GALNT5	11227	broad.mit.edu	37	2	158114759	158114782	+	In_Frame_Del	DEL	AGGATTCAGAGTTCAGCCAGACCA	AGGATTCAGAGTTCAGCCAGACCA	-	rs150999331	byFrequency	TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr2:158114759_158114782delAGGATTCAGAGTTCAGCCAGACCA	ENST00000259056.4	+	1	650_673	c.165_188delAGGATTCAGAGTTCAGCCAGACCA	c.(163-189)ataggattcagagttcagccagaccaa>ata	p.GFRVQPDQ56del		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	56					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGGAGCGGATAGGATTCAGAGTTCAGCCAGACCAAGGAAAAATT	0.482													7	121	---	---	---	---					
FCHO2	115548	broad.mit.edu	37	5	72377796	72377797	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:72377796_72377797delCC	ENST00000430046.2	+	23	2283_2284	c.2167_2168delCC	c.(2167-2169)cccfs	p.P724fs	FCHO2_ENST00000341845.6_Frame_Shift_Del_p.P724fs|FCHO2_ENST00000512348.1_Frame_Shift_Del_p.P691fs	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	724										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GCAGTCCCTTCCCCCTGCAATA	0.411													26	78	---	---	---	---					
DMXL1	1657	broad.mit.edu	37	5	118437645	118437645	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr5:118437645delG	ENST00000311085.8	+	3	309	c.229delG	c.(229-231)ggafs	p.G77fs	DMXL1_ENST00000539542.1_Frame_Shift_Del_p.G77fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	77										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGCGTCTTATGGAAATGTTAT	0.249													10	29	---	---	---	---					
FOXQ1	94234	broad.mit.edu	37	6	1313374	1313376	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr6:1313374_1313376delCAA	ENST00000296839.2	+	1	700_702	c.435_437delCAA	c.(433-438)atcaac>atc	p.N146del		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	146					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TGGCGGAGATCAACGAGTACCTC	0.640													8	33	---	---	---	---					
GRIK2	2898	broad.mit.edu	37	6	102483437	102483459	+	Splice_Site	DEL	CATGGGTAGGTTATATGTCAGCT	CATGGGTAGGTTATATGTCAGCT	-			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr6:102483437_102483459delCATGGGTAGGTTATATGTCAGCT	ENST00000369138.1	+	14	2797_2801	c.2307_2311delCATGGGTAGGTTATATGTCAGCT	c.(2305-2313)cccatgggt>ccgt	p.MG770fs	GRIK2_ENST00000421544.1_Splice_Site_p.MG770fs|GRIK2_ENST00000369134.4_Splice_Site_p.MG721fs|GRIK2_ENST00000318991.6_Splice_Site_p.MG770fs|GRIK2_ENST00000369137.3_Splice_Site_p.MG694fs|GRIK2_ENST00000413795.1_Splice_Site_p.MG770fs	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	770					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.P769>?(2)|p.?(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTGGCACTCCCATGGGTAGGTTATATGTCAGCTCTTTGTTCTT	0.426													13	110	---	---	---	---					
UPF2	26019	broad.mit.edu	37	10	11963300	11963304	+	Frame_Shift_Del	DEL	ACGTC	ACGTC	-			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr10:11963300_11963304delACGTC	ENST00000356352.2	-	21	4285_4289	c.3812_3816delGACGT	c.(3811-3816)agacgtfs	p.RR1271fs	UPF2_ENST00000357604.5_Frame_Shift_Del_p.RR1271fs|UPF2_ENST00000397053.2_Frame_Shift_Del_p.RR1271fs			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1271	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TGCTGGATCAACGTCTCCTAAAGGA	0.498													13	108	---	---	---	---					
LIMA1	51474	broad.mit.edu	37	12	50616126	50616145	+	Frame_Shift_Del	DEL	TGGTCTGCTCTGTGCCTAAT	TGGTCTGCTCTGTGCCTAAT	-			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:50616126_50616145delTGGTCTGCTCTGTGCCTAAT	ENST00000341247.4	-	4	438_457	c.289_308delATTAGGCACAGAGCAGACCA	c.(289-309)attaggcacagagcagaccatfs	p.IRHRADH97fs	LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Frame_Shift_Del_p.IRHRADH97fs|LIMA1_ENST00000552823.1_5'UTR|RP3-405J10.4_ENST00000551284.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	97					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.D102V(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGCAGGAGGATGGTCTGCTCTGTGCCTAATCTCAGTGCTG	0.532													8	101	---	---	---	---					
SPPL3	121665	broad.mit.edu	37	12	121205247	121205247	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr12:121205247delC	ENST00000353487.2	-	9	1426	c.923delG	c.(922-924)cgcfs	p.R308fs		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	309						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTCTGCATGCGCCCGGAGAT	0.542													10	44	---	---	---	---					
FBN1	2200	broad.mit.edu	37	15	48779348	48779348	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr15:48779348delG	ENST00000316623.5	-	29	3968	c.3513delC	c.(3511-3513)tgcfs	p.C1171fs		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1171	EGF-like 18; calcium-binding.		C -> W (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGAGGTTCACGCAACGGCCAT	0.433													13	48	---	---	---	---					
TRAF7	84231	broad.mit.edu	37	16	2226345	2226345	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr16:2226345delG	ENST00000326181.6	+	20	2090	c.1958delG	c.(1957-1959)cggfs	p.R653fs		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	653					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GCTGTGTCCCGGGGCCGACTC	0.637													2	4	---	---	---	---					
PPP4R1	9989	broad.mit.edu	37	18	9583194	9583214	+	In_Frame_Del	DEL	GAAACCGCCATGAAGCATTCA	GAAACCGCCATGAAGCATTCA	-			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr18:9583194_9583214delGAAACCGCCATGAAGCATTCA	ENST00000400556.3	-	9	892_912	c.819_839delTGAATGCTTCATGGCGGTTTC	c.(817-840)gctgaatgcttcatggcggtttca>gca	p.ECFMAVS274del	PPP4R1_ENST00000400555.3_In_Frame_Del_p.ECFMAVS257del|PPP4R1_ENST00000580583.1_Intron	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	274					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TGTTGCACATGAAACCGCCATGAAGCATTCAGCACAAGCCT	0.398													7	54	---	---	---	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-E7-A97P-01A-11D-A38G-08	TCGA-E7-A97P-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b5c355-e247-4694-9d46-770aa838190c	22cf4b93-69d7-44aa-a47c-b2799d224f5b	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													7	59	---	---	---	---					
