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
RXFP1	59350	broad.mit.edu	37	4	159514595	159514595	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr4:159514595C>T	ENST00000307765.5	+	3	481	c.230C>T	c.(229-231)gCc>gTc	p.A77V	RXFP1_ENST00000460056.2_5'UTR|RXFP1_ENST00000423548.1_Missense_Mutation_p.A77V|RXFP1_ENST00000448688.2_5'UTR|RXFP1_ENST00000470033.1_Intron|RXFP1_ENST00000343542.5_Missense_Mutation_p.A77V	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	77						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.A77D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AAATATTTTGCCAGTTACTAC	0.333000													7	36					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753953	140753953	+	Silent	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr5:140753953G>A	ENST00000517434.1	+	1	303	c.303G>A	c.(301-303)cgG>cgA	p.R101R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCCCGCGGTGTCTGGTGA	0.502000													25	46					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4874695	4874695	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr12:4874695T>C	ENST00000252318.2	+	10	2081	c.1744T>C	c.(1744-1746)Tat>Cat	p.Y582H		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	582	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACTGCATATATATTGGGATTT	0.458000													6	33					0	0	1	0	0
CES1P1	51716	broad.mit.edu	37	16	55794587	55794587	+	RNA	SNP	G	G	T	rs151262919	by1000genomes	TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr16:55794587G>T	ENST00000571348.1	+	0	77					NR_003276.2																						GGCCACTCTCGCTGCTTCCGC	0.597000													10	38					1.58986e-06	1.84357e-06	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761815	55761815	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr11:55761815C>A	ENST00000278409.1	-	1	286	c.287G>T	c.(286-288)gGc>gTc	p.G96V		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TAGGAAGCAGCCAGCAAAAGA	0.473000													24	97					4.26978e-12	5.54054e-12	1	1	0
IGKV1-16	28938	broad.mit.edu	37	2	89399610	89399610	+	RNA	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr2:89399610G>T	ENST00000479981.1	-	0	119																											CAGACAGTGAGGATGGAGACT	0.448000													12	131					7.07596e-05	7.99253e-05	1	1	0
ATAD1	84896	broad.mit.edu	37	10	89530722	89530722	+	Missense_Mutation	SNP	T	T	A	rs144419191	byFrequency	TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr10:89530722T>A	ENST00000308448.7	-	7	1145	c.767A>T	c.(766-768)cAt>cTt	p.H256L	ATAD1_ENST00000541004.1_Missense_Mutation_p.H256L|ATAD1_ENST00000400215.3_Intron|ATAD1_ENST00000328142.3_Missense_Mutation_p.H256L	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	256						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		CTGGTTGATATGAAATCTTGT	0.368000													3	29					0	0	1	0	0
PROCR	10544	broad.mit.edu	37	20	33763986	33763986	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr20:33763986G>T	ENST00000216968.4	+	3	420	c.338G>T	c.(337-339)cGc>cTc	p.R113L	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	113					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CTGACCATCCGCTGCTTCCTG	0.597000													24	134					1.64293e-13	2.2385e-13	1	1	0
FGD5	152273	broad.mit.edu	37	3	14942545	14942545	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr3:14942545G>T	ENST00000285046.5	+	9	3351	c.3241G>T	c.(3241-3243)Gcc>Tcc	p.A1081S	FGD5_ENST00000543601.1_Missense_Mutation_p.A840S|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1081	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CACAGACCGTGCCAACGACAG	0.612000													19	93					2.37509e-13	3.19611e-13	1	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52704405	52704405	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:52704405G>T	ENST00000287727.3	+	4	1488	c.1316G>T	c.(1315-1317)tGt>tTt	p.C439F	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.C439F|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.C439F|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.C439F	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	439					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GGAGGACAGTGTGTTGGATTG	0.388000													32	173					9.17885e-22	1.36122e-21	1	1	0
EMR3	84658	broad.mit.edu	37	19	14754920	14754920	+	Splice_Site	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr19:14754920C>A	ENST00000253673.5	-	9	1150	c.1050_splice	c.e9+1	p.Q350_splice	EMR3_ENST00000344373.4_Splice_Site_p.Q298_splice|EMR3_ENST00000599900.1_Splice_Site_p.Q135_splice|EMR3_ENST00000443157.2_Splice_Site_p.Q224_splice	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	350	GPS.				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TACATCATACCTGGCTGGTCA	0.423000													10	45					1.76689e-08	2.12808e-08	1	1	0
ABCA9	10350	broad.mit.edu	37	17	66972083	66972083	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr17:66972083C>A	ENST00000340001.4	-	39	5059	c.4848G>T	c.(4846-4848)tgG>tgT	p.W1616C	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Missense_Mutation_p.W1578C	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1616					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGAGGAGTTTCCACTTCACCG	0.413000													8	22					5.18039e-06	5.97527e-06	1	1	0
SH3GL2	6456	broad.mit.edu	37	9	17747126	17747126	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr9:17747126G>T	ENST00000380607.4	+	2	228	c.108G>T	c.(106-108)atG>atT	p.M36I	SH3GL2_ENST00000537391.1_5'UTR	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	36	BAR.|Binds and tubulates liposomes (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TCAAAGAGATGGAAAGGGTAA	0.408000													7	26					0.00198382	0.00205939	1	1	0
NCAPH	23397	broad.mit.edu	37	2	97031704	97031704	+	Missense_Mutation	SNP	A	A	G	rs140487512		TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr2:97031704A>G	ENST00000455200.1	+	14	2051	c.1756A>G	c.(1756-1758)Aag>Gag	p.K586E	NCAPH_ENST00000240423.4_Missense_Mutation_p.K597E|NCAPH_ENST00000427946.1_Missense_Mutation_p.K461E			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	597					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCATCCACCTAAGACAGCACA	0.483000													8	185					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237948020	237948020	+	Silent	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:237948020C>T	ENST00000366574.2	+	90	13325	c.13008C>T	c.(13006-13008)gaC>gaT	p.D4336D	RYR2_ENST00000360064.6_Silent_p.D4342D|RYR2_ENST00000542537.1_Silent_p.D4320D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4336					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACATGCCAGACCCCACTCAGG	0.552000													16	64					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048783	143048783	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr7:143048783G>T	ENST00000343257.2	+	23	2779	c.2692G>T	c.(2692-2694)Ggg>Tgg	p.G898W		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	898					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AAAGAGTACCGGGGCACCTCC	0.607000													11	50					2.27111e-07	2.70548e-07	1	1	0
RP11-44F14.1	0	broad.mit.edu	37	16	53403557	53403557	+	RNA	SNP	T	T	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr16:53403557T>A	ENST00000565421.1	-	0	1060																											ACCAAAACTCTTATAAAAAGA	0.333000													4	9					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7724719	7724719	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr5:7724719G>A	ENST00000338316.4	+	13	1854	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.E409K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	589					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CAAAGTACTAGAAAAAGAGGT	0.323000													8	29					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26490874	26490874	+	Silent	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr4:26490874C>T	ENST00000295589.3	-	2	539	c.345G>A	c.(343-345)aaG>aaA	p.K115K		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	115					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGTGGTGGTCTTGCAAACGG	0.552000													39	134					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124532424	124532424	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr7:124532424G>A	ENST00000357628.3	-	6	618	c.20C>T	c.(19-21)aCa>aTa	p.T7I	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	7					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TATATAATTTGTTGCTGGAAC	0.328000													33	88					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													4	23					0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55047598	55047598	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:55047598A>T	ENST00000330807.5	-	5	662	c.525T>A	c.(523-525)taT>taA	p.Y175*	ALAS2_ENST00000396198.3_Nonsense_Mutation_p.Y162*|ALAS2_ENST00000335854.4_Nonsense_Mutation_p.Y138*	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	175					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GGGCAAAGGGATATGCATCAG	0.493000													23	73					0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15282060	15282060	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr3:15282060C>A	ENST00000253693.2	+	13	1741	c.1488C>A	c.(1486-1488)aaC>aaA	p.N496K		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	496	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						ATGTAAAAAACTGGACTCCAG	0.328000													24	30					6.12954e-19	8.73359e-19	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38768493	38768493	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr3:38768493G>T	ENST00000449082.2	-	16	2690	c.2691C>A	c.(2689-2691)aaC>aaA	p.N897K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	897					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGGCTGTGAGGTTGTCAGCAC	0.537000													29	98					3.65163e-15	5.03832e-15	1	1	0
MAGEB1	4112	broad.mit.edu	37	X	30268784	30268784	+	Silent	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:30268784C>A	ENST00000378981.3	+	4	495	c.174C>A	c.(172-174)ccC>ccA	p.P58P	MAGEB1_ENST00000397550.1_Silent_p.P58P|MAGEB1_ENST00000397548.2_Silent_p.P58P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	58										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CTGGCATTCCCCAGAAGCCTC	0.567000													9	42					0.000442599	0.000477657	1	1	0
LMAN2L	81562	broad.mit.edu	37	2	97405753	97405753	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr2:97405753C>A	ENST00000264963.4	-	1	47	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000377079.4_Missense_Mutation_p.G9W|LMAN2L_ENST00000534882.1_5'UTR|LMAN2L_ENST00000426463.2_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	9					ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TGCCACGACCCAAGGGGTCCC	0.622000													15	69					1.33834e-09	1.64835e-09	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31320629	31320629	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr15:31320629A>T	ENST00000542188.1	-	24	3563	c.3250T>A	c.(3250-3252)Tgt>Agt	p.C1084S	TRPM1_ENST00000397795.2_Missense_Mutation_p.C1045S|RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.C1067S	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1045					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCGGGGATACAGGGAGGAAGC	0.483000													7	74					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202245515	202245515	+	Silent	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:202245515C>T	ENST00000367278.3	+	5	599	c.510C>T	c.(508-510)gaC>gaT	p.D170D	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Silent_p.D118D|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	170						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCTGGCTGGACGACAATGCAC	0.637000													4	63					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25783814	25783814	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr17:25783814G>A	ENST00000319524.6	+	1	145	c.145G>A	c.(145-147)Gac>Aac	p.D49N	KSR1_ENST00000509603.2_Missense_Mutation_p.D49N			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	47					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GAAGCTCATCGACATCTCCAT	0.726000													11	38					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73164061	73164061	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr4:73164061C>A	ENST00000286657.4	-	18	2559	c.2523G>T	c.(2521-2523)caG>caT	p.Q841H		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	841	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTAATTCTTCCTGGATGACAT	0.388000													21	73					1.01871e-10	1.2837e-10	1	1	0
WDR72	256764	broad.mit.edu	37	15	53889376	53889376	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr15:53889376C>A	ENST00000396328.1	-	18	3287	c.3048G>T	c.(3046-3048)atG>atT	p.M1016I	WDR72_ENST00000360509.5_Missense_Mutation_p.M1016I|WDR72_ENST00000559418.1_Missense_Mutation_p.M1026I|WDR72_ENST00000557913.1_Missense_Mutation_p.M1013I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1016										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CATTCTCTGCCATGGACACTG	0.438000													10	171					1.58986e-06	1.84357e-06	1	1	0
CAPN7	23473	broad.mit.edu	37	3	15282052	15282052	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr3:15282052G>A	ENST00000253693.2	+	13	1733	c.1480G>A	c.(1480-1482)Gta>Ata	p.V494I		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	494	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TGAAAATGATGTAAAAAACTG	0.333000													22	32					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228212	3228212	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:3228212G>A	ENST00000217939.6	-	7	8186	c.8032C>T	c.(8032-8034)Cat>Tat	p.H2678Y		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2678	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCTCCAGATGCATGCCATTG	0.602000													20	133					0	0	1	0	0
SPPL2B	56928	broad.mit.edu	37	19	2341059	2341059	+	RNA	SNP	G	G	A	rs35001592	by1000genomes	TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr19:2341059G>A	ENST00000452401.2	+	0	1033				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGTCCTCGGGTGCACCAGGG	0.721000													3	14					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22023023	22023023	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr8:22023023G>C	ENST00000306385.5	+	1	775	c.105G>C	c.(103-105)gaG>gaC	p.E35D	BMP1_ENST00000397814.3_Missense_Mutation_p.E35D|BMP1_ENST00000354870.5_Missense_Mutation_p.E35D|BMP1_ENST00000397816.3_Missense_Mutation_p.E35D|BMP1_ENST00000306349.8_Missense_Mutation_p.E35D	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	35					cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGGCGGAGGAGGACGACTCGG	0.761000													4	17					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982676	7982676	+	Silent	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr11:7982676C>T	ENST00000328600.2	-	2	644	c.483G>A	c.(481-483)aaG>aaA	p.K161K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	161							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAGTGAGGGCTTTTCCCCTG	0.582000													12	62					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303591	6303591	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr4:6303591G>A	ENST00000226760.1	+	8	2239	c.2069G>A	c.(2068-2070)tGc>tAc	p.C690Y	WFS1_ENST00000503569.1_Missense_Mutation_p.C690Y	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	690			C -> R (in WFS).		endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CAGATCCTCTGCAGCCACCTG	0.622000													11	100					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242054508	242054508	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr2:242054508C>A	ENST00000403638.3	-	14	3374	c.3283G>T	c.(3283-3285)Gac>Tac	p.D1095Y	PASK_ENST00000358649.4_Missense_Mutation_p.D1095Y|PASK_ENST00000405260.1_Missense_Mutation_p.D1095Y|PASK_ENST00000544142.1_Missense_Mutation_p.D909Y|PASK_ENST00000539818.1_Missense_Mutation_p.D879Y|PASK_ENST00000234040.4_Missense_Mutation_p.D1095Y	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1095	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGGTGGCGGTCGATGAAAGCG	0.557000													9	115					0.000274275	0.00029896	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40790012	40790012	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr20:40790012C>T	ENST00000373198.3	-	18	2963	c.2728G>A	c.(2728-2730)Ggg>Agg	p.G910R	PTPRT_ENST00000373184.1_Missense_Mutation_p.G878R|PTPRT_ENST00000373193.3_Missense_Mutation_p.G891R|PTPRT_ENST00000373190.1_Missense_Mutation_p.G887R|PTPRT_ENST00000373187.1_Missense_Mutation_p.G888R|PTPRT_ENST00000356100.2_Missense_Mutation_p.G897R|PTPRT_ENST00000373201.1_Missense_Mutation_p.G878R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	888	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCCTTGAACCCGTAGCCCTGG	0.542000													17	83					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86900404	86900404	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr9:86900404C>A	ENST00000376238.4	-	14	1552	c.1503G>T	c.(1501-1503)tgG>tgT	p.W501C	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Missense_Mutation_p.W432C	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	501					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGCTGTCCTGCCATTCCACTC	0.408000													44	44					1.61863e-15	2.24752e-15	1	1	0
EFTUD1	79631	broad.mit.edu	37	15	82444680	82444680	+	Silent	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr15:82444680G>A	ENST00000268206.7	-	18	2283	c.2115C>T	c.(2113-2115)gtC>gtT	p.V705V	EFTUD1_ENST00000359445.3_Silent_p.V654V	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	705					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTTCTTCATTGACCATGTCAA	0.378000													8	171					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55249005	55249005	+	Missense_Mutation	SNP	G	G	T	rs146024686		TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr7:55249005G>T	ENST00000275493.2	+	20	2480	c.2303G>T	c.(2302-2304)aGc>aTc	p.S768I	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.S715I|EGFR_ENST00000455089.1_Missense_Mutation_p.S723I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	768	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S768I(24)|p.S768N(1)|p.S768_V769insVAS(1)|p.S768_V769>IL(1)|p.S768T(1)|p.A767_S768insTLA(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGATGGCCAGCGTGGACAAC	0.637000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			123	91					4.20686e-72	6.45842e-72	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105418085	105418085	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr14:105418085G>A	ENST00000333244.5	-	7	3822	c.3703C>T	c.(3703-3705)Cac>Tac	p.H1235Y	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1235						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCAGGCACGTGGCCCTCCAGG	0.627000													15	128					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179555605	179555605	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr5:179555605G>T	ENST00000393371.2	-	4	740	c.444C>A	c.(442-444)taC>taA	p.Y148*	RASGEF1C_ENST00000361132.4_Nonsense_Mutation_p.Y148*|RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000522500.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	148	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTCTTCCGGTATGCCTGGT	0.607000													5	30					0.000602214	0.000637295	1	1	0
GPRASP1	9737	broad.mit.edu	37	X	101910401	101910401	+	Silent	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:101910401G>T	ENST00000537097.1	+	6	2373	c.1560G>T	c.(1558-1560)tcG>tcT	p.S520S	GPRASP1_ENST00000415986.1_Silent_p.S520S|GPRASP1_ENST00000361600.5_Silent_p.S520S|GPRASP1_ENST00000444152.1_Silent_p.S520S|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	520	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTTTTGGGTCGTGGTTCTGGG	0.517000													39	185					1.67305e-13	2.26537e-13	1	1	0
SNAP25	6616	broad.mit.edu	37	20	10286809	10286809	+	Silent	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr20:10286809C>T	ENST00000254976.2	+	8	796	c.585C>T	c.(583-585)gcC>gcT	p.A195A	SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Silent_p.A195A	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	195	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TTGATGAGGCCAACCAACGTG	0.478000													6	50					0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205817025	205817025	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:205817025A>G	ENST00000367136.4	-	2	288	c.244T>C	c.(244-246)Tac>Cac	p.Y82H	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	82						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TTATGAATGTATTTTCCGAAC	0.418000													9	53					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94767325	94767325	+	Silent	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr8:94767325G>T	ENST00000453321.3	+	1	241	c.183G>T	c.(181-183)tcG>tcT	p.S61S	TMEM67_ENST00000409623.3_5'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	61					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CCGCCCTCTCGTGTGTTCCTT	0.567000													35	126					6.53348e-20	9.49532e-20	1	1	0
C7orf31	136895	broad.mit.edu	37	7	25175816	25175816	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr7:25175816C>T	ENST00000409280.1	-	10	1856	c.1548G>A	c.(1546-1548)atG>atA	p.M516I	C7orf31_ENST00000283905.3_Missense_Mutation_p.M516I			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	516										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CATTGTTTTCCATATTCAAGA	0.378000													19	184					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13226207	13226207	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr19:13226207C>A	ENST00000592062.1	-	6	1097	c.527G>T	c.(526-528)gGg>gTg	p.G176V	TRMT1_ENST00000357720.4_Missense_Mutation_p.G176V|TRMT1_ENST00000437766.1_Missense_Mutation_p.G176V|TRMT1_ENST00000221504.8_Missense_Mutation_p.G176V			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	176							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		AGATCTGAGCCCAGGCACCTC	0.582000													20	37					1.96292e-10	2.45929e-10	1	1	0
TNN	63923	broad.mit.edu	37	1	175067548	175067548	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:175067548G>A	ENST00000239462.4	+	9	2049	c.1936G>A	c.(1936-1938)Gcc>Acc	p.A646T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	646	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A646T(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGTGCAGGCCGCCATTGACAA	0.582000													27	120					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285503	152285503	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:152285503C>A	ENST00000368799.1	-	3	1894	c.1859G>T	c.(1858-1860)aGt>aTt	p.S620I	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	620	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTAACACTGGATCCCTG	0.552000									Ichthyosis				90	403					2.06477e-34	3.12583e-34	1	1	0
FLNA	2316	broad.mit.edu	37	X	153579293	153579293	+	Silent	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:153579293G>T	ENST00000422373.1	-	43	7364	c.7116C>A	c.(7114-7116)gtC>gtA	p.V2372V	FLNA_ENST00000369850.3_Silent_p.V2380V|FLNA_ENST00000344736.4_Silent_p.V2340V|FLNA_ENST00000369856.3_Silent_p.V513V|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000360319.4_Silent_p.V2372V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2380					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CAATTTCTGTGACATAGCACT	0.607000													36	104					2.40579e-17	3.4056e-17	1	1	0
HSPA12B	116835	broad.mit.edu	37	20	3732755	3732755	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr20:3732755C>A	ENST00000254963.2	+	13	2148	c.2003C>A	c.(2002-2004)gCc>gAc	p.A668D	HSPA12B_ENST00000542646.1_Missense_Mutation_p.A502D	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	668							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						AAGGTCACCGCCGTCGACGTC	0.726000													4	31					0.000602214	0.000637295	1	1	0
ZNF587	84914	broad.mit.edu	37	19	58371380	58371380	+	Missense_Mutation	SNP	A	A	C			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr19:58371380A>C	ENST00000339656.5	+	3	1782	c.1600A>C	c.(1600-1602)Agt>Cgt	p.S534R	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.S491R|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.S533R	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TGAATGTTCCAGTCTCATTAA	0.398000													10	136					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33185939	33185939	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr7:33185939G>T	ENST00000242067.6	+	2	596	c.75G>T	c.(73-75)ttG>ttT	p.L25F	BBS9_ENST00000396127.2_Missense_Mutation_p.L25F|BBS9_ENST00000482941.1_3'UTR|BBS9_ENST00000425508.2_5'UTR|BBS9_ENST00000354265.4_Missense_Mutation_p.L25F|BBS9_ENST00000350941.3_Missense_Mutation_p.L25F|BBS9_ENST00000355070.2_Missense_Mutation_p.L25F	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	25					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AAGGCTGTTTGTGTCTGGCTA	0.353000									Bardet-Biedl syndrome				21	108					5.26018e-13	6.94981e-13	1	1	0
PSG6	5675	broad.mit.edu	37	19	43422010	43422010	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr19:43422010G>T	ENST00000402603.4	-	0	24				PSG6_ENST00000187910.2_5'UTR|PSG6_ENST00000601833.1_Intron					pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TTCCTGAGCAGGGCTGTCAGG	0.612000													20	59					9.7654e-05	0.000109735	1	1	0
TRIM22	10346	broad.mit.edu	37	11	5730535	5730535	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr11:5730535G>T	ENST00000379965.3	+	8	1431	c.1154G>T	c.(1153-1155)gGg>gTg	p.G385V	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	385	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AAGAGCTCTGGGTTTGCTTTT	0.378000													23	71					7.41877e-09	9.08591e-09	1	1	0
OR3A1	4994	broad.mit.edu	37	17	3195470	3195470	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr17:3195470C>G	ENST00000323404.1	-	1	406	c.407G>C	c.(406-408)aGc>aCc	p.S136T	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CATGCGGGTGCTGTAGGTGAG	0.592000													16	140					0	0	1	0	0
CTNNA1	1495	broad.mit.edu	37	5	138160274	138160274	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr5:138160274A>T	ENST00000302763.7	+	6	734	c.644A>T	c.(643-645)cAg>cTg	p.Q215L	CTNNA1_ENST00000355078.5_Missense_Mutation_p.Q112L|CTNNA1_ENST00000518825.1_Missense_Mutation_p.Q215L	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	215	Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGAATCCTGCAGAAGAACGTT	0.468000													4	69					0	0	1	0	0
ASB11	140456	broad.mit.edu	37	X	15315773	15315773	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:15315773G>A	ENST00000537676.1	-	3	301	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	ASB11_ENST00000480796.1_Missense_Mutation_p.R98W|ASB11_ENST00000344384.4_Missense_Mutation_p.R77W|ASB11_ENST00000380470.3_Intron			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	98					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					GAAGACACCCGGTTAATTGTC	0.483000													8	160					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95415537	95415537	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr10:95415537C>A	ENST00000371447.3	+	16	2094	c.1956C>A	c.(1954-1956)aaC>aaA	p.N652K		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	652					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TCTTCCAGAACCTAAATAAGC	0.328000													8	114					0.27861	0.279894	1	1	0
PNLIP	5406	broad.mit.edu	37	10	118314708	118314708	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr10:118314708C>A	ENST00000369221.2	+	7	618	c.590C>A	c.(589-591)cCt>cAt	p.P197H		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	197					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CCAGCAGAACCTTGCTTTCAG	0.428000													5	47					0.0215528	0.0221627	1	1	0
PCDHB8	56128	broad.mit.edu	37	5	140559411	140559411	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr5:140559411A>G	ENST00000239444.2	+	1	2041	c.1796A>G	c.(1795-1797)cAg>cGg	p.Q599R		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		599	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTCGGGCCAGAACGCCTGG	0.716000													18	62					0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6927527	6927527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr17:6927527G>T	ENST00000293805.5	+	3	397	c.305G>T	c.(304-306)cGc>cTc	p.R102L	BCL6B_ENST00000572216.1_Intron	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	102	BTB.					nucleus	zinc ion binding			skin(1)	1						TCGCGCCTGCGCCTCTCTCCA	0.652000													37	83					2.75727e-19	3.95451e-19	1	1	0
MS4A14	84689	broad.mit.edu	37	11	60184425	60184425	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr11:60184425C>A	ENST00000300187.6	+	5	2261	c.1984C>A	c.(1984-1986)Cag>Aag	p.Q662K	MS4A14_ENST00000531783.1_Missense_Mutation_p.Q695K|MS4A14_ENST00000395005.2_Missense_Mutation_p.Q645K|MS4A14_ENST00000531787.1_Missense_Mutation_p.Q550K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	662	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AGGCAATCTCCAGGCTGGACA	0.453000													16	49					1.67942e-08	2.03396e-08	1	1	0
LHX8	431707	broad.mit.edu	37	1	75622747	75622747	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:75622747A>G	ENST00000294638.5	+	9	1644	c.980A>G	c.(979-981)cAt>cGt	p.H327R	LHX8_ENST00000356261.3_Missense_Mutation_p.H317R	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	327						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ACTGCGCTGCATAGTTATATG	0.443000													7	117					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921560	247921560	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:247921560C>A	ENST00000408896.2	-	1	422	c.149G>T	c.(148-150)gGc>gTc	p.G50V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGAGTCAAAGCCAATCGTCGC	0.488000													13	45					0.000219431	0.000241596	1	1	0
MIR106A	406899	broad.mit.edu	37	X	133304302	133304302	+	RNA	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:133304302G>A	ENST00000384870.1	-	0	6					NR_029523.1																						CTTTTACATGGCCAAGGCCTA	0.413000													7	40					0	0	1	0	0
GDPD2	54857	broad.mit.edu	37	X	69647227	69647227	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:69647227G>C	ENST00000453994.2	+	10	1211	c.850G>C	c.(850-852)Gta>Cta	p.V284L	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Missense_Mutation_p.V205L|GDPD2_ENST00000536730.1_Missense_Mutation_p.V205L|GDPD2_ENST00000374382.3_Missense_Mutation_p.V284L	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	284	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TGTAGCCTCTGTATTCCCAAC	0.567000													19	41					0	0	1	0	0
GALR3	8484	broad.mit.edu	37	22	38219465	38219465	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr22:38219465G>A	ENST00000249041.2	+	1	77	c.52G>A	c.(52-54)Gtg>Atg	p.V18M		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	18					feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					TGTGGGGGCCGTGGCAGTGCC	0.622000													20	61					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13769419	13769419	+	Silent	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:13769419G>A	ENST00000380567.1	+	11	1439	c.567G>A	c.(565-567)agG>agA	p.R189R	OFD1_ENST00000340096.6_Silent_p.R329R|OFD1_ENST00000380550.3_Intron|OFD1_ENST00000398395.3_Silent_p.R329R|OFD1_ENST00000490265.1_3'UTR			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	329					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGGCACTTAGGAGACAGGAGC	0.323000													14	61					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4169563	4169563	+	Silent	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr7:4169563G>T	ENST00000404826.2	+	27	4102	c.3963G>T	c.(3961-3963)ctG>ctT	p.L1321L	SDK1_ENST00000389531.3_Silent_p.L1321L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1321	Fibronectin type-III 7.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAAAGACCTGGATCCCGAGC	0.667000													16	87					1.3612e-06	1.59539e-06	1	1	0
DSEL	92126	broad.mit.edu	37	18	65180925	65180925	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr18:65180925C>A	ENST00000310045.7	-	2	2424	c.951G>T	c.(949-951)tgG>tgT	p.W317C	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	307						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GCATCTTTAACCAGTTATTAT	0.403000													27	42					2.48779e-11	3.17157e-11	1	1	0
KIAA1586	57691	broad.mit.edu	37	6	56918787	56918787	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr6:56918787A>G	ENST00000370733.4	+	4	1697	c.1490A>G	c.(1489-1491)cAt>cGt	p.H497R	KIAA1586_ENST00000545356.1_Missense_Mutation_p.H470R	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	497							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GCTGTATGGCATGCATATCCT	0.353000													39	35					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215960126	215960126	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:215960126A>T	ENST00000366943.2	-	52	10659	c.10273T>A	c.(10273-10275)Tgc>Agc	p.C3425S	USH2A_ENST00000307340.3_Missense_Mutation_p.C3425S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3425	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCACAGTGCAAATGTGGCTG	0.463000										HNSCC(13;0.011)			16	85					0	0	1	0	0
SYNE3	161176	broad.mit.edu	37	14	95934167	95934167	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr14:95934167C>T	ENST00000334258.5	-	2	296	c.282G>A	c.(280-282)tgG>tgA	p.W94*	SYNE3_ENST00000557275.1_Nonsense_Mutation_p.W94*|SYNE3_ENST00000553340.1_Nonsense_Mutation_p.W94*	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CTGTCTCCTCCCATTGGGCCT	0.597000													11	44					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682223	100682223	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr7:100682223C>T	ENST00000306151.4	+	3	7590	c.7526C>T	c.(7525-7527)aCt>aTt	p.T2509I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2509	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAATCTCAACTGCTAGTGAA	0.488000													26	610					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12725755	12725755	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:12725755C>A	ENST00000380682.1	+	13	1961	c.1455C>A	c.(1453-1455)caC>caA	p.H485Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	485	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TAGAACTCCACGTGCTAGATG	0.473000													39	142					7.61001e-30	1.13629e-29	1	1	0
ADCY4	196883	broad.mit.edu	37	14	24801051	24801051	+	Silent	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr14:24801051C>T	ENST00000310677.4	-	5	725	c.612G>A	c.(610-612)cgG>cgA	p.R204R	ADCY4_ENST00000554068.2_Silent_p.R204R|ADCY4_ENST00000418030.2_Silent_p.R204R|ADCY4_ENST00000396747.3_5'UTR	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	204					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGAGTGCCTCCCGGAACGTGG	0.667000													3	29					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135391480	135391480	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr5:135391480G>A	ENST00000442011.2	+	11	1683	c.1522G>A	c.(1522-1524)Gtc>Atc	p.V508I	TGFBI_ENST00000305126.8_Missense_Mutation_p.V508I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	508	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTCATGGATGTCCTGAAGGG	0.592000													5	26					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8946491	8946491	+	Silent	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr2:8946491G>A	ENST00000256707.3	-	7	694	c.513C>T	c.(511-513)acC>acT	p.T171T	KIDINS220_ENST00000427284.1_Silent_p.T171T|KIDINS220_ENST00000319688.5_Silent_p.T172T|KIDINS220_ENST00000473731.1_Silent_p.T171T|KIDINS220_ENST00000418530.1_Silent_p.T129T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	171					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTAAAGGGGTGGTTCCATACT	0.318000													33	148					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134022867	134022867	+	Missense_Mutation	SNP	C	C	G	rs147905924	byFrequency	TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr11:134022867C>G	ENST00000534548.2	-	35	4533	c.4469G>C	c.(4468-4470)cGa>cCa	p.R1490P	NCAPD3_ENST00000526787.2_Intron	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1490					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGGGGTCTTTCGGAGGGACCT	0.597000													37	93					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123987979	123987979	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr3:123987979G>T	ENST00000360013.3	+	5	967	c.840G>T	c.(838-840)aaG>aaT	p.K280N	KALRN_ENST00000460856.1_Missense_Mutation_p.K280N|KALRN_ENST00000240874.3_Missense_Mutation_p.K280N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	280					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGGTGCCCAAGATCACCAGTC	0.642000													8	34					0.0381472	0.0390427	1	1	0
RAB41	347517	broad.mit.edu	37	X	69504489	69504489	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:69504489G>T	ENST00000374473.2	+	8	711	c.665G>T	c.(664-666)tGt>tTt	p.C222F	RAB41_ENST00000276066.4_Missense_Mutation_p.C221F			Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	222					protein transport|small GTPase mediated signal transduction		GTP binding			breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						AGAAGCTATTGTTGACAGCTT	0.463000													10	47					1.33987e-11	1.72835e-11	1	1	0
OR5B12	390191	broad.mit.edu	37	11	58207201	58207201	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr11:58207201G>C	ENST00000302572.2	-	1	445	c.424C>G	c.(424-426)Ctg>Gtg	p.L142V		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCTATGGCCAGGCAAGCACAT	0.463000													12	121					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40013043	40013043	+	Silent	SNP	A	A	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr12:40013043A>T	ENST00000308666.3	-	1	510	c.375T>A	c.(373-375)gcT>gcA	p.A125A		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	125	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CATCCAGACCAGCCACATAGA	0.428000													27	67					0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105526455	105526455	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr6:105526455T>A	ENST00000345080.4	+	4	753	c.550T>A	c.(550-552)Tcc>Acc	p.S184T		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	184					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				GGAAGCAGAATCCCAGCCATG	0.547000													14	52					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179460858	179460858	+	Silent	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:179460858C>A	ENST00000367618.3	+	19	2664	c.2277C>A	c.(2275-2277)tcC>tcA	p.S759S		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	759										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACCAATACTCCAGCTATTTGA	0.413000													24	162					3.28513e-13	4.36682e-13	1	1	0
COL4A1	1282	broad.mit.edu	37	13	110861200	110861200	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr13:110861200T>C	ENST00000375820.4	-	12	810	c.689A>G	c.(688-690)gAc>gGc	p.D230G	COL4A1_ENST00000543140.1_Missense_Mutation_p.D230G	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	230	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACTCACCTTGTCACCTTTTGG	0.408000													26	92					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197889240	197889240	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:197889240C>A	ENST00000367390.3	+	3	313	c.286C>A	c.(286-288)Ctc>Atc	p.L96I	LHX9_ENST00000337020.2_Missense_Mutation_p.L105I|LHX9_ENST00000561173.1_Missense_Mutation_p.L111I|LHX9_ENST00000367387.4_Missense_Mutation_p.L105I|LHX9_ENST00000367391.1_Missense_Mutation_p.L96I	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	105	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TAAGCTGGCCCTCGAGTCCGA	0.567000													13	373					2.61681e-11	3.31666e-11	1	1	0
VIT	5212	broad.mit.edu	37	2	37036016	37036016	+	Silent	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr2:37036016G>A	ENST00000379242.3	+	15	2093	c.1791G>A	c.(1789-1791)ctG>ctA	p.L597L	VIT_ENST00000401530.1_Silent_p.L561L|VIT_ENST00000389975.3_Silent_p.L582L|VIT_ENST00000404084.1_Silent_p.L534L|VIT_ENST00000379241.3_Silent_p.L560L|VIT_ENST00000497382.1_Silent_p.L251L	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	582	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ACTTCGCCCTGGAGCAGCTCT	0.582000													20	83					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103123390	103123390	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr7:103123390G>A	ENST00000424685.2	-	63	10369	c.10210C>T	c.(10210-10212)Cgc>Tgc	p.R3404C	RELN_ENST00000343529.5_Missense_Mutation_p.R3404C|RELN_ENST00000473945.1_5'UTR|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.R3404C			P78509	RELN_HUMAN	reelin	3404					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGCCACCAGCGCAGTAAGACT	0.468000													29	53					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510785	169510785	+	Silent	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:169510785G>T	ENST00000367796.3	-	13	3759	c.3558C>A	c.(3556-3558)gtC>gtA	p.V1186V	F5_ENST00000367797.3_Silent_p.V1181V			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1181	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGTCTGCCAGACTTCATGTT	0.517000													11	287					0.000978159	0.00103014	1	1	0
IGF2R	3482	broad.mit.edu	37	6	160494948	160494948	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr6:160494948G>T	ENST00000356956.1	+	35	5255	c.5107G>T	c.(5107-5109)Gga>Tga	p.G1703*		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1703				G -> A (in Ref. 1; CAA68395 and 3; AAF16870).	receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.G1703R(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TCCCATGCACGGAGTGCCCTG	0.478000													4	29					0.00024832	0.000272029	1	1	0
PMS2	5395	broad.mit.edu	37	7	6026998	6026998	+	Silent	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr7:6026998G>A	ENST00000265849.7	-	11	1503	c.1398C>T	c.(1396-1398)ggC>ggT	p.G466G	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000406569.3_Silent_p.G466G|PMS2_ENST00000441476.2_Silent_p.G360G	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	466					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GTCTCAGGACGCCTTTGTCAG	0.567000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				63	86					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356616	42356616	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr14:42356616G>T	ENST00000554171.1	+	5	3220	c.788G>T	c.(787-789)tGt>tTt	p.C263F	LRFN5_ENST00000554120.1_Missense_Mutation_p.C263F|LRFN5_ENST00000298119.4_Missense_Mutation_p.C263F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	263	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTAGAGACCTGTGCTTCTCCT	0.438000										HNSCC(30;0.082)			37	233					5.71845e-15	7.84039e-15	1	1	0
TXNDC2	84203	broad.mit.edu	37	18	9886681	9886681	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr18:9886681G>T	ENST00000306084.6	+	2	404	c.205G>T	c.(205-207)Gtc>Ttc	p.V69F	TXNDC2_ENST00000357775.4_Missense_Mutation_p.V2F|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.V2F	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	69					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCTCCCCATGGTCAGCCACAC	0.552000													6	63					3.59834e-05	4.08561e-05	1	1	0
PRODH2	58510	broad.mit.edu	37	19	36303058	36303058	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr19:36303058G>A	ENST00000301175.3	-	4	733	c.716C>T	c.(715-717)gCg>gTg	p.A239V		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	239					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACTGGTCAGCGCCGTCACCTT	0.692000													22	65					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3652102	3652102	+	Silent	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr20:3652102C>T	ENST00000356518.2	-	17	2188	c.1947G>A	c.(1945-1947)gaG>gaA	p.E649E	ADAM33_ENST00000350009.2_Intron|ADAM33_ENST00000466620.1_Intron|ADAM33_ENST00000379861.4_Silent_p.E649E	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	649	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						AGCGCTGAAGCTCCTGGAAGG	0.632000													9	106					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25783879	25783879	+	Silent	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr17:25783879G>A	ENST00000319524.6	+	1	210	c.210G>A	c.(208-210)caG>caA	p.Q70Q	KSR1_ENST00000509603.2_Silent_p.Q70Q			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	68					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACCTCACCCAGCAGGAGATAC	0.687000													13	33					0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97984091	97984091	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr3:97984091C>A	ENST00000383696.2	+	1	1004	c.963C>A	c.(961-963)ttC>ttA	p.F321L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAAAAATGTTCAAAAGCAATG	0.348000													4	60					0.184627	0.186337	1	1	0
PADI3	51702	broad.mit.edu	37	1	17596794	17596794	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:17596794C>T	ENST00000375460.3	+	7	759	c.719C>T	c.(718-720)cCc>cTc	p.P240L		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	240					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TATGAGGTACCCCGCTTGCAT	0.592000													15	130					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41823327	41823327	+	Silent	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr15:41823327C>T	ENST00000304330.4	-	7	953	c.837G>A	c.(835-837)gaG>gaA	p.E279E	RPAP1_ENST00000561603.1_Silent_p.E279E|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	279						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGGCCTCTGCTCCTCAGAGG	0.562000													9	195					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904397	144904397	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:144904397G>T	ENST00000370490.1	+	1	4709	c.454G>T	c.(454-456)Ggg>Tgg	p.G152W	SLITRK2_ENST00000413937.2_Missense_Mutation_p.G152W|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G152W|SLITRK2_ENST00000447897.2_Missense_Mutation_p.G152W|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G152W			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	152						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CATCGAGGCTGGGGCATTCAG	0.507000													33	127					1.99505e-19	2.88027e-19	1	1	0
PDE2A	5138	broad.mit.edu	37	11	72299887	72299887	+	Silent	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr11:72299887G>A	ENST00000334456.5	-	13	1256	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	PDE2A_ENST00000418754.2_Silent_p.S222S|PDE2A_ENST00000544570.1_Silent_p.S330S|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000540345.1_Silent_p.S328S|PDE2A_ENST00000444035.2_Silent_p.S328S	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	337	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CAGTGGCCCGGCTGATGACAG	0.577000													30	74					0	0	1	0	0
CCDC71	64925	broad.mit.edu	37	3	49200931	49200931	+	Silent	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr3:49200931C>T	ENST00000321895.6	-	2	817	c.711G>A	c.(709-711)aaG>aaA	p.K237K		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	237										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GAGTCAGACACTTGGGGCCCT	0.607000													12	102					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6152090	6152090	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr6:6152090G>T	ENST00000264870.3	-	14	2266	c.2001C>A	c.(1999-2001)caC>caA	p.H667Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	667					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GACCATCCAGGTGTACCCAGA	0.502000													28	91					3.73808e-20	5.46914e-20	1	1	0
GPR137C	283554	broad.mit.edu	37	14	53101741	53101741	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr14:53101741G>A	ENST00000321662.6	+	7	1198	c.1198G>A	c.(1198-1200)Gga>Aga	p.G400R		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	400						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					CCACCTGAATGGACCTATGAC	0.418000													15	97					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231342396	231342396	+	Splice_Site	SNP	A	A	G			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:231342396A>G	ENST00000444294.3	+	7	2532		c.e7-1		TRIM67_ENST00000366653.5_Splice_Site|TRIM67_ENST00000449018.3_Splice_Site|TRIM67_ENST00000366652.2_Splice_Site	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67							cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCTCTCTTTCAGGAAGTGTAC	0.478000													3	22					0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296961	9296961	+	Silent	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr19:9296961C>T	ENST00000344248.2	+	1	683	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	168					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ATCTAATCTTCTGTAAAGATT	0.448000													52	139					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55971023	55971023	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr4:55971023G>A	ENST00000263923.4	-	13	2069	c.1774C>T	c.(1774-1776)Cca>Tca	p.P592S		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	592	Ig-like C2-type 6.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ACATGGATTGGCAGAGGCTGT	0.483000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			26	77					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145112603	145112603	+	Silent	SNP	T	T	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr8:145112603T>A	ENST00000426825.1	-	10	1251	c.1170A>T	c.(1168-1170)acA>acT	p.T390T	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	390							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CATCCGTCACTGTCACAGGGC	0.657000													3	24					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230846288	230846288	+	Silent	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:230846288G>A	ENST00000366667.4	-	2	523	c.309C>T	c.(307-309)gcC>gcT	p.A103A		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	103					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CGACCATTGCGGCCCTCAACT	0.567000													21	80					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228432121	228432121	+	Silent	SNP	T	T	C			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:228432121T>C	ENST00000570156.2	+	12	3680	c.3606T>C	c.(3604-3606)gaT>gaC	p.D1202D	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.D1110D|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.D1110D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	146	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTACAAGGATGGGAAGAAGC	0.617000													39	106					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26700330	26700330	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr11:26700330G>C	ENST00000396005.3	-	13	1817	c.1508C>G	c.(1507-1509)tCc>tGc	p.S503C		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	503					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GTAAAGGTAGGAGATCGAGTA	0.468000													15	78					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30927602	30927602	+	Missense_Mutation	SNP	A	A	C			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr21:30927602A>C	ENST00000399914.1	-	15	2854	c.2333T>G	c.(2332-2334)aTt>aGt	p.I778S	GRIK1_ENST00000389124.2_Missense_Mutation_p.I793S|GRIK1_ENST00000309434.7_Missense_Mutation_p.I795S|GRIK1_ENST00000399913.1_Missense_Mutation_p.I793S|GRIK1_ENST00000327783.4_Missense_Mutation_p.I793S|GRIK1_ENST00000399909.1_Missense_Mutation_p.I778S|GRIK1_ENST00000389125.3_Missense_Mutation_p.I778S|GRIK1_ENST00000399907.1_Missense_Mutation_p.I793S|GRIK1_ENST00000535441.1_Missense_Mutation_p.I795S			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	793					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	AGCAATAGTAATTTTATCCCG	0.408000													47	74					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2293581	2293581	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr20:2293581T>A	ENST00000381458.5	+	5	641	c.578T>A	c.(577-579)tTg>tAg	p.L193*		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	193					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CTCTCAATCTTGGATAGGAGT	0.473000													59	213					0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184175085	184175085	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr4:184175085G>C	ENST00000403733.3	+	9	1328	c.1129G>C	c.(1129-1131)Gaa>Caa	p.E377Q	WWC2_ENST00000504005.1_Missense_Mutation_p.E59Q|WWC2_ENST00000513834.1_Missense_Mutation_p.E377Q|WWC2_ENST00000378925.3_Missense_Mutation_p.E279Q|WWC2_ENST00000448232.2_Missense_Mutation_p.E377Q	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	377										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CCTAGAAGCTGAAAGGCAGCG	0.458000													6	31					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91403432	91403432	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:91403432G>A	ENST00000370440.1	-	4	3515	c.3298C>T	c.(3298-3300)Cgt>Tgt	p.R1100C	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.R1100C|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GGAATAATACGACGACTGTTC	0.353000													35	194					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661283	22661283	+	RNA	SNP	A	A	G			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr22:22661283A>G	ENST00000426066.1	+	0	360					NR_027293.1																						GTCTGCGTTGAGATTGAAAAT	0.473000													13	44					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20530614	20530614	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr4:20530614C>T	ENST00000504154.1	+	16	1757	c.1505C>T	c.(1504-1506)gCg>gTg	p.A502V	SLIT2_ENST00000503837.1_Missense_Mutation_p.A498V|SLIT2_ENST00000273739.5_Missense_Mutation_p.A506V|SLIT2_ENST00000503823.1_Missense_Mutation_p.A494V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	502	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GACTGCTTTGCGGATCTGGCT	0.388000													23	120					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10362681	10362681	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr17:10362681A>G	ENST00000255381.2	-	15	1584	c.1474T>C	c.(1474-1476)Ttc>Ctc	p.F492L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	492	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGTGGTTGAAAAACTGTTGC	0.463000													31	103					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105278254	105278254	+	Missense_Mutation	SNP	G	G	C	rs151001785		TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:105278254G>C	ENST00000327674.4	-	3	1351	c.1016C>G	c.(1015-1017)aCa>aGa	p.T339R	SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.T339R			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	339					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	ATTGTCCTCTGTGAGTCCAGA	0.383000													15	77					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762416	53762416	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr19:53762416C>A	ENST00000341702.3	+	1	872	c.788C>A	c.(787-789)gCa>gAa	p.A263E		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	263					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TCAGTATATGCAGCATTGACA	0.448000													13	150					0.00185496	0.00193484	1	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140754168	140754168	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr5:140754168G>T	ENST00000517434.1	+	1	518	c.518G>T	c.(517-519)aGt>aTt	p.S173I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTAAGCTCAGTGGTAATAGT	0.532000													10	26					0.000442599	0.000477657	1	1	0
ATRX	546	broad.mit.edu	37	X	76953083	76953083	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:76953083G>A	ENST00000373344.5	-	4	444	c.230C>T	c.(229-231)tCa>tTa	p.S77L	ATRX_ENST00000395603.3_Missense_Mutation_p.S77L|ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000373341.1_Missense_Mutation_p.S38L	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	77					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTTTGATCGTGACGATCCTGA	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						27	119					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67786058	67786058	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:67786058C>A	ENST00000262345.1	+	2	647	c.7C>A	c.(7-9)Cat>Aat	p.H3N	IL12RB2_ENST00000371000.1_Missense_Mutation_p.H3N|IL12RB2_ENST00000541374.1_Missense_Mutation_p.H3N|IL12RB2_ENST00000544434.1_Missense_Mutation_p.H3N	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	3					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GTTGATGGCACATACTTTTAG	0.338000													13	117					4.3838e-07	5.18534e-07	1	1	0
KSR1	8844	broad.mit.edu	37	17	25783840	25783840	+	Silent	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr17:25783840G>A	ENST00000319524.6	+	1	171	c.171G>A	c.(169-171)ggG>ggA	p.G57G	KSR1_ENST00000509603.2_Silent_p.G57G			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	55					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCCTGCGCGGGCTGCGCACCA	0.716000													14	40					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784560	30784560	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr20:30784560G>A	ENST00000246229.4	-	3	1450	c.1186C>T	c.(1186-1188)Ctt>Ttt	p.L396F		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	396						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCTTGGCAAGCAGTGCTTCA	0.627000													9	34					0	0	1	0	0
TSPAN31	6302	broad.mit.edu	37	12	58139586	58139586	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr12:58139586C>A	ENST00000547992.1	+	2	254	c.122C>A	c.(121-123)tCc>tAc	p.S41Y	TSPAN31_ENST00000257910.3_Missense_Mutation_p.S41Y|TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000553221.1_3'UTR			Q12999	TSN31_HUMAN	tetraspanin 31	41					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GGTCTGGTGTCCAGCATCCAC	0.542000													17	102					3.41278e-10	4.25135e-10	1	1	0
OXCT1	5019	broad.mit.edu	37	5	41762251	41762251	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr5:41762251T>C	ENST00000196371.5	-	14	1460	c.1300A>G	c.(1300-1302)Aaa>Gaa	p.K434E	OXCT1_ENST00000509987.1_Missense_Mutation_p.K248E|OXCT1_ENST00000512084.1_Missense_Mutation_p.K37E|OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000510634.1_Missense_Mutation_p.K37E	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	434					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	ACTTTGGTTTTCGCACTGGAC	0.408000													22	147					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51418767	51418767	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr3:51418767C>G	ENST00000266037.9	+	53	5893	c.5870C>G	c.(5869-5871)tCa>tGa	p.S1957*		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1957						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CGAAGCCACTCAGCCCCAGGG	0.672000													12	46					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54011445	54011445	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:54011445C>T	ENST00000338154.6	-	18	2849	c.2345G>A	c.(2344-2346)cGg>cAg	p.R782Q	PHF8_ENST00000322659.8_Missense_Mutation_p.R765Q|PHF8_ENST00000338946.6_Missense_Mutation_p.R681Q|PHF8_ENST00000357988.5_Missense_Mutation_p.R818Q	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	818	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GTATGCTGGCCGCTTGATGGG	0.607000													47	76					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038561	75038561	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:75038561T>A	ENST00000326665.5	-	14	3051	c.2833A>T	c.(2833-2835)Agt>Tgt	p.S945C	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	945	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTCTTCACTTTCTCCGACA	0.547000													29	158					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999365	27999365	+	Silent	SNP	T	T	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:27999365T>A	ENST00000441525.1	-	1	201	c.87A>T	c.(85-87)gtA>gtT	p.V29V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	29										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TCACCGCTGCTACTCCAGACT	0.562000													14	72					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81743481	81743481	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr14:81743481C>G	ENST00000555447.1	-	6	2586	c.2174G>C	c.(2173-2175)tGt>tCt	p.C725S	STON2_ENST00000267540.2_Missense_Mutation_p.C725S	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	725	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CACATTCTCACAGGGAACCTG	0.547000													44	238					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2224542	2224542	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr12:2224542G>A	ENST00000399655.1	+	2	467	c.202G>A	c.(202-204)Gct>Act	p.A68T	CACNA1C_ENST00000399617.1_Missense_Mutation_p.A68T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A68T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A68T|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A68T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A68T|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A68T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A68T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A68T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A68T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A68T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A68T|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A68T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A68T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A68T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A68T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A68T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A68T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A68T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A68T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A68T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A68T|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A68T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	68					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GATGGGCAGCGCTGGCAATGC	0.697000													4	13					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19725273	19725273	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr21:19725273G>C	ENST00000284885.3	-	10	1151	c.1118C>G	c.(1117-1119)aCc>aGc	p.T373S		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	373	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AGGAGAAAAGGTGCTTCCCTG	0.338000													42	91					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175092673	175092673	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:175092673C>T	ENST00000239462.4	+	12	2901	c.2788C>T	c.(2788-2790)Ccg>Tcg	p.P930S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	930	Fibronectin type-III 8.		P -> L (in dbSNP:rs2285215).		cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGGGAGGTTCCGGTGGGGAA	0.617000													19	93					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958969	78958969	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:78958969G>T	ENST00000370756.3	+	2	778	c.541G>T	c.(541-543)Gcg>Tcg	p.A181S	PTGFR_ENST00000370757.3_Missense_Mutation_p.A181S|PTGFR_ENST00000370758.1_Missense_Mutation_p.A181S	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	181					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TAAAATTCAGGCGTCGAGGAC	0.413000													20	134					1.50039e-11	1.92403e-11	1	1	0
ECM1	1893	broad.mit.edu	37	1	150484990	150484990	+	Silent	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:150484990C>A	ENST00000369047.4	+	8	1371	c.1246C>A	c.(1246-1248)Cga>Aga	p.R416R	ECM1_ENST00000369049.4_Silent_p.R443R|ECM1_ENST00000346569.6_Silent_p.R291R|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	416					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGACATCGGTCGAGTCACCCC	0.567000													5	94					0.000602214	0.000637295	1	1	0
RGAG4	340526	broad.mit.edu	37	X	71351249	71351249	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:71351249C>A	ENST00000545866.1	-	1	509	c.142G>T	c.(142-144)Ggc>Tgc	p.G48C	RGAG4_ENST00000479991.1_Missense_Mutation_p.G48C|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	48										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GAGACATTGCCCCGCAAGGAA	0.587000													6	112					3.59834e-05	4.08561e-05	1	1	0
HECW1	23072	broad.mit.edu	37	7	43360276	43360276	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr7:43360276G>A	ENST00000395891.1	+	5	1000	c.395G>A	c.(394-396)gGa>gAa	p.G132E	HECW1_ENST00000453890.1_Missense_Mutation_p.G132E	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	132					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.G132E(1)|p.G111E(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AAAAACCGTGGAGTCAATGGT	0.448000													16	63					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109617030	109617030	+	Silent	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr12:109617030G>T	ENST00000338432.7	+	10	1694	c.1575G>T	c.(1573-1575)cgG>cgT	p.R525R	ACACB_ENST00000377848.3_Silent_p.R525R|ACACB_ENST00000377854.5_Silent_p.R525R|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	525	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCATCCAGCGGCGGCATCAGA	0.602000													20	19					2.94398e-08	3.52631e-08	1	1	0
TNRC6B	23112	broad.mit.edu	37	22	40661954	40661954	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr22:40661954A>T	ENST00000454349.2	+	5	1931	c.1720A>T	c.(1720-1722)Act>Tct	p.T574S	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.T574S	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	574					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						AGGTCAAAGCACTGGAAGCAA	0.542000													23	95					0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882973	42882973	+	Silent	SNP	G	G	A	rs61749924	byFrequency	TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr17:42882973G>A	ENST00000426548.1	-	3	482	c.213C>T	c.(211-213)ctC>ctT	p.L71L	GJC1_ENST00000330514.4_Silent_p.L71L|GJC1_ENST00000592524.1_Silent_p.L71L|GJC1_ENST00000590758.1_Silent_p.L71L	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	71					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GTACATGGGAGAGAGGTGCAA	0.488000													6	134					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184801055	184801055	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:184801055C>T	ENST00000367511.3	-	6	836	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	215					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGCACAGCTTCTAAAAAGGCT	0.408000													39	86					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549588	158549588	+	Silent	SNP	A	A	G			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:158549588A>G	ENST00000368150.1	-	1	101	c.102T>C	c.(100-102)tcT>tcC	p.S34S		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GTGGGTACACAGAAAAGCCAA	0.388000													32	143					0	0	1	0	0
GYG2	8908	broad.mit.edu	37	X	2799177	2799177	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:2799177G>T	ENST00000381163.3	+	12	1711	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	GYG2_ENST00000398806.3_Nonsense_Mutation_p.E446*|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000338623.5_Nonsense_Mutation_p.E441*|GYG2_ENST00000542787.1_Nonsense_Mutation_p.E406*	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	477					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGGAAGTGGGAGGAAGGCCG	0.577000													25	22					4.26978e-12	5.54054e-12	1	1	0
HYKK	123688	broad.mit.edu	37	15	78825984	78825984	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr15:78825984A>T	ENST00000388988.4	+	5	1207	c.1094A>T	c.(1093-1095)aAa>aTa	p.K365I	HYKK_ENST00000569878.1_Missense_Mutation_p.K365I|HYKK_ENST00000563233.1_Intron|HYKK_ENST00000408962.2_Intron	NM_001013619.2	NP_001013641.2			hydroxylysine kinase																		GAAACTGCCAAATCCTATGAA	0.398000													6	67					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152544855	152544855	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr2:152544855T>A	ENST00000397345.3	-	25	2568	c.2366A>T	c.(2365-2367)gAt>gTt	p.D789V	NEB_ENST00000604864.1_Missense_Mutation_p.D789V|NEB_ENST00000427231.2_Missense_Mutation_p.D789V|NEB_ENST00000172853.10_Missense_Mutation_p.D789V|NEB_ENST00000409198.1_Missense_Mutation_p.D789V|NEB_ENST00000603639.1_Missense_Mutation_p.D789V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	789					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGTGGAGCATCTGCTGGTAT	0.393000													7	22					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55241707	55241707	+	Missense_Mutation	SNP	G	G	T	rs28929495		TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr7:55241707G>T	ENST00000275493.2	+	18	2332	c.2155G>T	c.(2155-2157)Ggc>Tgc	p.G719C	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G666C|EGFR_ENST00000455089.1_Missense_Mutation_p.G674C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	719	Protein kinase.		G -> A (found in a lung cancer sample).|G -> C (found in a lung cancer sample; dbSNP:rs28929495).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G719S(27)|p.G719C(22)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAAAGTGCTGGGCTCCGGTGC	0.582000	G719S(SW48_LARGE_INTESTINE)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			67	50					8.81991e-31	1.32603e-30	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761816	55761816	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr11:55761816C>G	ENST00000278409.1	-	1	285	c.286G>C	c.(286-288)Ggc>Cgc	p.G96R		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGGAAGCAGCCAGCAAAAGAG	0.473000													24	96					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43782938	43782938	+	Silent	SNP	C	C	G			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:43782938C>G	ENST00000372476.3	+	15	2557	c.2478C>G	c.(2476-2478)ccC>ccG	p.P826P	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.P471P	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	826					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AACTGCAGCCCGAGCCCCTGA	0.602000													12	93					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904885	144904885	+	Silent	SNP	A	A	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:144904885A>T	ENST00000370490.1	+	1	5197	c.942A>T	c.(940-942)cgA>cgT	p.R314R	SLITRK2_ENST00000413937.2_Silent_p.R314R|SLITRK2_ENST00000434188.2_Silent_p.R314R|SLITRK2_ENST00000447897.2_Silent_p.R314R|SLITRK2_ENST00000428560.2_Silent_p.R314R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	314						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CAACTCCTCGAGTGACTGTGT	0.547000													11	139					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26423183	26423183	+	RNA	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr6:26423183C>T	ENST00000466808.2	+	0	102																											TCGTGGGGCCCACTGATCCCA	0.537000													17	69					0	0	1	0	0
NAT16	375607	broad.mit.edu	37	7	100817911	100817911	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr7:100817911C>G	ENST00000300303.2	-	2	416	c.178G>C	c.(178-180)Gaa>Caa	p.E60Q	NAT16_ENST00000455377.1_Missense_Mutation_p.E60Q|NAT16_ENST00000443096.1_Missense_Mutation_p.E60Q	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	60	N-acetyltransferase.						N-acetyltransferase activity										AACTCCCGTTCCGTGGCCACC	0.677000													6	97					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904398	144904398	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:144904398G>T	ENST00000370490.1	+	1	4710	c.455G>T	c.(454-456)gGg>gTg	p.G152V	SLITRK2_ENST00000413937.2_Missense_Mutation_p.G152V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G152V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.G152V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G152V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	152						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATCGAGGCTGGGGCATTCAGC	0.507000													34	124					3.03874e-20	4.47598e-20	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158606533	158606533	+	Silent	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:158606533C>A	ENST00000368148.3	-	37	5388	c.5208G>T	c.(5206-5208)gtG>gtT	p.V1736V	SPTA1_ENST00000368147.3_Silent_p.V1736V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1736					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTGGGAGCTCACTCGTATCA	0.478000													27	149					3.1745e-13	4.24565e-13	1	1	0
LOC645752	645752	broad.mit.edu	37	15	78212426	78212426	+	RNA	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr15:78212426G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TCCTGCTCTAGCTGGACTTGT	0.537000													8	115					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124266183	124266183	+	Silent	SNP	T	T	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr8:124266183T>A	ENST00000395571.3	-	3	2621	c.2004A>T	c.(2002-2004)acA>acT	p.T668T	ZHX1_ENST00000522655.1_Silent_p.T668T|ZHX1_ENST00000297857.2_Silent_p.T668T|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	668					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCTGCTCAGGTGTTTTTTTAC	0.468000													16	106					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109693870	109693870	+	Silent	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:109693870C>A	ENST00000465301.2	+	3	271	c.25C>A	c.(25-27)Cga>Aga	p.R9R	RGAG1_ENST00000540313.1_Silent_p.R9R	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	9										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACATTCACTGCGATTCAACAA	0.453000											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	218					4.38816e-42	6.68965e-42	1	1	0
RASGEF1C	255426	broad.mit.edu	37	5	179555604	179555604	+	Silent	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr5:179555604G>T	ENST00000393371.2	-	4	741	c.445C>A	c.(445-447)Cgg>Agg	p.R149R	RASGEF1C_ENST00000361132.4_Silent_p.R149R|RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000522500.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	149	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCTCTTCCGGTATGCCTGG	0.607000													5	31					0.000602214	0.000637295	1	1	0
C16orf82	162083	broad.mit.edu	37	16	27078644	27078644	+	RNA	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr16:27078644C>T	ENST00000505035.1	+	0	617				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN																			CCGGAGAGTGCGGCTGAACAG	0.657000													3	14					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51559891	51559891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr19:51559891G>A	ENST00000595793.1	-	5	829	c.787C>T	c.(787-789)Cga>Tga	p.R263*	KLK13_ENST00000335422.3_Nonsense_Mutation_p.R111*|KLK13_ENST00000595547.1_Nonsense_Mutation_p.R190*	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	263	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity	p.R263*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TCATATTTTCGGATTGTTTCA	0.507000													20	179					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792565	143792565	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr7:143792565A>G	ENST00000408949.2	+	1	425	c.365A>G	c.(364-366)tAt>tGt	p.Y122C		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TATGATCGGTATGTGGCAATC	0.433000													13	154					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66467915	66467915	+	Silent	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr4:66467915G>T	ENST00000273854.3	-	3	954	c.354C>A	c.(352-354)atC>atA	p.I118I	EPHA5_ENST00000354839.4_Silent_p.I118I|EPHA5_ENST00000511294.1_Silent_p.I118I|EPHA5_ENST00000432638.2_Silent_p.I118I	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	118					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTCATTGGAGATCCAACTGG	0.443000										TSP Lung(17;0.13)			6	110					0.00116845	0.00122462	1	1	0
KALRN	8997	broad.mit.edu	37	3	124376341	124376341	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr3:124376341G>A	ENST00000360013.3	+	40	6033	c.5906G>A	c.(5905-5907)cGa>cAa	p.R1969Q	KALRN_ENST00000459915.1_Missense_Mutation_p.R61Q|KALRN_ENST00000291478.4_Missense_Mutation_p.R272Q|KALRN_ENST00000393496.1_Missense_Mutation_p.R310Q|KALRN_ENST00000428018.2_Missense_Mutation_p.R240Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1968	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAGGATATGCGAGGAAAGGAC	0.443000													8	83					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42059461	42059461	+	Missense_Mutation	SNP	A	A	C			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr15:42059461A>C	ENST00000219905.7	+	24	9362	c.9181A>C	c.(9181-9183)Agt>Cgt	p.S3061R	MGA_ENST00000570161.1_Missense_Mutation_p.S3061R|MGA_ENST00000389936.4_Missense_Mutation_p.S3022R|MGA_ENST00000566586.1_Missense_Mutation_p.S2852R|MGA_ENST00000545763.1_Missense_Mutation_p.S2852R	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	3022						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)		GGCCTCACCAAGTTCTGCAGG	0.498000													37	99					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69758079	69758079	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr6:69758079G>T	ENST00000370598.1	+	14	2931	c.2110G>T	c.(2110-2112)Gct>Tct	p.A704S		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	704					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTAATAGTGGCTAGTATTCA	0.338000													13	43					0.000151284	0.000169128	1	1	0
MUC16	94025	broad.mit.edu	37	19	9056820	9056820	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr19:9056820G>T	ENST00000397910.4	-	3	30829	c.30626C>A	c.(30625-30627)aCa>aAa	p.T10209K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10211	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGGATGATGTTTTTGCAGA	0.478000													12	41					5.50884e-06	6.32067e-06	1	1	0
OR10P1	121130	broad.mit.edu	37	12	56030837	56030837	+	Silent	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr12:56030837C>T	ENST00000309675.2	+	1	194	c.162C>T	c.(160-162)gcC>gcT	p.A54A		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TCAGCCCTGCCCTGCACTCCC	0.612000													34	110					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672556	141672556	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr7:141672556G>T	ENST00000547270.1	-	1	1017	c.934C>A	c.(934-936)Ctg>Atg	p.L312M		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	312					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GCCCAGAGCAGAATGGTCATC	0.517000													27	63					8.24728e-16	1.15251e-15	1	1	0
PPARG	5468	broad.mit.edu	37	3	12434118	12434118	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr3:12434118C>G	ENST00000397026.2	+	6	803	c.420C>G	c.(418-420)ttC>ttG	p.F140L	PPARG_ENST00000287820.6_Missense_Mutation_p.F162L|PPARG_ENST00000397012.2_Missense_Mutation_p.F134L|PPARG_ENST00000397015.2_Missense_Mutation_p.F134L|PPARG_ENST00000309576.6_Missense_Mutation_p.F134L|PPARG_ENST00000539812.1_Missense_Mutation_p.F132L|PPARG_ENST00000397010.2_Missense_Mutation_p.F134L|PPARG_ENST00000397000.1_Missense_Mutation_p.F134L			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	162					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TGCAGGGTTTCTTCCGGAGAA	0.388000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						13	47					0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113505204	113505204	+	Silent	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr3:113505204C>T	ENST00000273398.3	+	6	798	c.690C>T	c.(688-690)ggC>ggT	p.G230G	ATP6V1A_ENST00000538620.1_Silent_p.G197G	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	230					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTTGACTGGCCAGAGAGTCC	0.433000													46	125					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963926	88963926	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr7:88963926G>T	ENST00000333190.4	+	4	2239	c.1630G>T	c.(1630-1632)Gat>Tat	p.D544Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	544						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGCTAATCCGGATTGGGAAAA	0.343000										HNSCC(36;0.09)			25	53					4.4004e-07	5.18534e-07	1	1	0
SPANXN3	139067	broad.mit.edu	37	X	142605206	142605206	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:142605206G>T	ENST00000370503.2	-	1	97	c.14C>A	c.(13-15)aCt>aAt	p.T5N		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	5										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCTGGAAGTTGGCTGTTC	0.463000													12	303					1.5842e-08	1.92936e-08	1	1	0
ASPM	259266	broad.mit.edu	37	1	197065221	197065221	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:197065221T>C	ENST00000367409.4	-	19	9150	c.8894A>G	c.(8893-8895)tAt>tGt	p.Y2965C	ASPM_ENST00000367408.1_Missense_Mutation_p.Y630C|ASPM_ENST00000294732.7_Missense_Mutation_p.Y1380C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2965	IQ 35.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCAACATCTATACCAGGCTTG	0.333000													47	165					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41298754	41298754	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr1:41298754C>A	ENST00000347132.5	+	11	1664	c.1582C>A	c.(1582-1584)Cct>Act	p.P528T	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.P474T	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	528					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CGACATCATGCCTGCTGTGAA	0.612000													13	64					0.000219431	0.000241596	1	1	0
TP53	7157	broad.mit.edu	37	17	7579528	7579528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr17:7579528C>T	ENST00000420246.2	-	4	291	c.159G>A	c.(157-159)tgG>tgA	p.W53*	TP53_ENST00000455263.2_Nonsense_Mutation_p.W53*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W53*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W53*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W53*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W53*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	53	Interaction with HRMT1L2.		W -> C (in sporadic cancers; somatic mutation).|W -> G (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.W53*(6)|p.W53C(2)|p.E51fs*59(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.F54fs*3(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTCAGTGAACCATTGTTCAA	0.592000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			118	114					0	0	1	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794902	18794902	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr20:18794902G>T	ENST00000377428.2	+	1	533	c.443G>T	c.(442-444)aGg>aTg	p.R148M	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		AAGCTGGAAAGGGTTTTCAAA	0.423000													10	86					9.70103e-10	1.2016e-09	1	1	0
ANKK1	255239	broad.mit.edu	37	11	113264461	113264461	+	Silent	SNP	G	G	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr11:113264461G>T	ENST00000303941.3	+	2	538	c.444G>T	c.(442-444)ccG>ccT	p.P148P		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	148	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		ACCTCAAGCCGGGCAACATAC	0.552000													10	43					0.000219431	0.000241596	1	1	0
PDE6C	5146	broad.mit.edu	37	10	95415542	95415542	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr10:95415542A>T	ENST00000371447.3	+	16	2099	c.1961A>T	c.(1960-1962)aAt>aTt	p.N654I		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	654					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CAGAACCTAAATAAGCGGCAG	0.338000													9	119					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120702704	120702704	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr11:120702704G>C	ENST00000527524.2	+	7	942	c.655G>C	c.(655-657)Gcc>Ccc	p.A219P	GRIK4_ENST00000438375.2_Missense_Mutation_p.A219P			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	219					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CATCATCCACGCCAACGCCTC	0.657000													26	63					0	0	1	0	0
MT3	4504	broad.mit.edu	37	16	56623933	56623933	+	Silent	SNP	C	C	T			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr16:56623933C>T	ENST00000570176.1	+	2	234	c.183C>T	c.(181-183)agC>agT	p.S61S	MT3_ENST00000565838.1_Intron|MT3_ENST00000561640.1_Intron|MT3_ENST00000200691.4_Intron|MT3_ENST00000566576.1_Intron			P25713	MT3_HUMAN	metallothionein 3	0	Alpha.				cell proliferation|cellular metal ion homeostasis|removal of superoxide radicals|response to hypoxia	synaptic vesicle	antioxidant activity|copper ion binding|zinc ion binding			central_nervous_system(1)|large_intestine(1)	2						GGAGAGACAGCCAGGCCCCGA	0.612000													4	8					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)del	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502													7	58	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400639	195400641	+	RNA	DEL	GTG	GTG	-	rs145880653		TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr3:195400639_195400641delGTG	ENST00000445430.1	+	0	1284																											AGGTGGGCTTGTGGAGGAATGGG	0.552													2	4	---	---	---	---					
STK32B	55351	broad.mit.edu	37	4	5461837	5461837	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr4:5461837delC	ENST00000282908.5	+	9	1213	c.791delC	c.(790-792)acfs	p.T264fs	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Frame_Shift_Del_p.T217fs|STK32B_ENST00000512636.1_Frame_Shift_Del_p.T187fs	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	264	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CAGCTCCTGACCAAGGATCCT	0.547											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	57	---	---	---	---					
PCDHGB4	8641	broad.mit.edu	37	5	140767492	140767497	+	In_Frame_Del	DEL	TGCCAG	TGCCAG	-			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr5:140767492_140767497delTGCCAG	ENST00000519479.1	+	1	41_46	c.41_46delTGCCAG	c.(40-48)ctg>c	p.LPV14del	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1												p.P15_V16delPV(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.617											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
OR4C5	79346	broad.mit.edu	37	11	48387684	48387684	+	Frame_Shift_Del	DEL	T	T	-	rs67755516		TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr11:48387684delT	ENST00000319813.3	-	1	333	c.334delA	c.(334-336)ctfs	p.T112fs						olfactory receptor, family 4, subfamily C, member 5																		AAGGAAATAGTTTTCTTTTCA	0.433													2	4	---	---	---	---					
CCDC70	83446	broad.mit.edu	37	13	52439625	52439625	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chr13:52439625delC	ENST00000242819.4	+	2	407	c.111delC	c.(109-111)cgfs	p.R37fs		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	37						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CCAGTATTCGCCAGAAGAAAC	0.493													31	36	---	---	---	---					
KIF4A	24137	broad.mit.edu	37	X	69639564	69639564	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:69639564delG	ENST00000374403.3	+	30	3508	c.3426delG	c.(3424-3426)ctfs	p.L1142fs		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1142	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CCTTCAAACTGGAGGATCCTA	0.498													26	82	---	---	---	---					
RP11-308D16.4	0	broad.mit.edu	37	X	136030245	136030245	+	RNA	DEL	T	T	-			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:136030245delT	ENST00000424306.1	+	0	2052																											GAGAACCTGCTTTTTTTTTTT	0.438													3	4	---	---	---	---					
MECP2	4204	broad.mit.edu	37	X	153363100	153363102	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-44-A4SU-01A-11D-A24P-08	TCGA-44-A4SU-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	977a1314-f964-4427-b0da-c6d01a0fde7c	e0ac1cfd-ec6d-44cd-80cc-41c1eca3ccdd	g.chrX:153363100_153363102delGCG	ENST00000453960.2	-	1	75_77	c.21_23delCGC	c.(19-24)gcg>gc	p.AA7del	MECP2_ENST00000407218.1_5'UTR|MECP2_ENST00000303391.6_5'UTR	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	0					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGCTCGGCgcggcggcggcgg	0.778													5	8	---	---	---	---