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
PTPRD	5789	broad.mit.edu	37	9	8528594	8528594	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:8528594A>T	ENST00000381196.4	-	12	1081	c.538T>A	c.(538-540)Tca>Aca	p.S180T	PTPRD_ENST00000356435.5_Missense_Mutation_p.S180T|PTPRD_ENST00000355233.5_Missense_Mutation_p.S180T|PTPRD_ENST00000397606.3_Missense_Mutation_p.S180T|PTPRD_ENST00000397611.3_Missense_Mutation_p.S180T|PTPRD_ENST00000397617.3_Missense_Mutation_p.S180T|PTPRD_ENST00000360074.4_Missense_Mutation_p.S180T|PTPRD_ENST00000540109.1_Missense_Mutation_p.S180T|PTPRD_ENST00000463477.1_Missense_Mutation_p.S180T|PTPRD_ENST00000537002.1_Missense_Mutation_p.S180T|PTPRD_ENST00000358503.5_Missense_Mutation_p.S180T|PTPRD_ENST00000486161.1_Missense_Mutation_p.S180T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	180	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S180K(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACCCTACCTGATCGTAACTGC	0.323000										TSP Lung(15;0.13)			14	105					0	0	0.004007	0	0
COL22A1	169044	broad.mit.edu	37	8	139635992	139635992	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:139635992C>G	ENST00000303045.6	-	52	4200	c.3754G>C	c.(3754-3756)Ggt>Cgt	p.G1252R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1232R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1252	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G1252C(1)|p.G1252R(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGGGGACCCGGCTTTCCA	0.443000										HNSCC(7;0.00092)			138	345					0	0	0.014410	0	0
AFF2	2334	broad.mit.edu	37	X	147743642	147743642	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:147743642C>A	ENST00000370460.2	+	3	873	c.394C>A	c.(394-396)Cct>Act	p.P132T	AFF2_ENST00000370457.5_Missense_Mutation_p.P128T|AFF2_ENST00000370458.1_Missense_Mutation_p.P128T|AFF2_ENST00000342251.3_Missense_Mutation_p.P128T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	132					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.P132T(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TAATACCCATCCTTCAGCACC	0.398000													65	168					2.18329e-32	3.79451e-32	0.014410	1	0
SV2C	22987	broad.mit.edu	37	5	75581080	75581080	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:75581080C>A	ENST00000502798.2	+	5	1449	c.1007C>A	c.(1006-1008)gCc>gAc	p.A336D	SV2C_ENST00000322285.7_Missense_Mutation_p.A336D	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	336					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.A336D(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCGTGGTGGCCCTCACATTC	0.502000													17	96					0.000132079	0.000152545	0.008871	1	0
KRT31	3881	broad.mit.edu	37	17	39553533	39553533	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:39553533G>T	ENST00000251645.2	-	1	311	c.259C>A	c.(259-261)Ctc>Atc	p.L87I		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	87	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.L87I(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCCCGGATGAGGTTCTCCAGC	0.587000													13	70					1.5842e-08	2.17752e-08	0.016723	1	0
ZBTB39	9880	broad.mit.edu	37	12	57396914	57396914	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:57396914C>T	ENST00000300101.2	-	2	1873	c.1788G>A	c.(1786-1788)ctG>ctA	p.L596L		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L596L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GTTGGCCCTGCAGCGCCAGCT	0.587000													13	63					0	0	0.016723	0	0
RNF103	7844	broad.mit.edu	37	2	86832183	86832183	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:86832183C>T	ENST00000237455.4	-	4	1809	c.841G>A	c.(841-843)Ggc>Agc	p.G281S	AC015971.2_ENST00000424788.1_RNA|RNF103_ENST00000477307.1_5'UTR|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	281					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G281S(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TTATATATGCCAATATCTGTC	0.348000													13	23					0	0	0.016723	0	0
CSMD3	114788	broad.mit.edu	37	8	113649205	113649205	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:113649205C>A	ENST00000297405.5	-	22	3800	c.3556G>T	c.(3556-3558)Ggc>Tgc	p.G1186C	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1186C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1146C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1082C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1186	Sushi 6.					integral to membrane|plasma membrane		p.G1146C(1)|p.G1186C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAGGAATGCCAGGATCTTCA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	136					4.35082e-09	6.11992e-09	0.010504	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531000	84531000	+	RNA	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:84531000G>A	ENST00000527857.1	+	0	1022					NR_026851.1																						CTTTTCCGGAGATGTTATCTC	0.488000													3	3					0	0	0.004672	0	0
C2	717	broad.mit.edu	37	6	31903837	31903837	+	Splice_Site	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:31903837A>G	ENST00000299367.5	+	7	1263	c.988_splice	c.e7+1	p.K329_splice	C2_ENST00000452323.2_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Splice_Site_p.K197_splice|CFB_ENST00000456570.1_Intron|C2_ENST00000469372.1_Splice_Site_p.K83_splice|CFB_ENST00000556679.1_Intron	NM_000063.4	NP_000054.2			complement component 2									p.K329K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CCAACTATAAAGGTACGGGTG	0.498000													5	30					0	0	0.001168	0	0
ASB5	140458	broad.mit.edu	37	4	177136756	177136756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:177136756G>A	ENST00000296525.3	-	7	1098	c.985C>T	c.(985-987)Cga>Tga	p.R329*	ASB5_ENST00000512254.1_Nonsense_Mutation_p.R276*	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	329	SOCS box.				intracellular signal transduction			p.R329*(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CTGTTTTATCGATACTGTAAG	0.328000													4	30					0	0	0.014758	0	0
SPTA1	6708	broad.mit.edu	37	1	158592846	158592846	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:158592846C>T	ENST00000368148.3	-	43	6227	c.6047G>A	c.(6046-6048)cGc>cAc	p.R2016H	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.R2013H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2016					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	p.R2016H(1)		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)					CTGTTCCCAGCGCTTCAGCAG	0.478000													117	305					0	0	0.014410	0	0
SLC12A1	6557	broad.mit.edu	37	15	48551399	48551399	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:48551399C>A	ENST00000396577.3	+	17	2260	c.2045C>A	c.(2044-2046)cCc>cAc	p.P682H	SLC12A1_ENST00000380993.3_Missense_Mutation_p.P682H|SLC12A1_ENST00000558405.1_Missense_Mutation_p.P682H	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	682					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.P682N(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ACTTCCAGGCCCCAGTGCATT	0.478000													8	83					1.12685e-05	1.37388e-05	0.004482	1	0
PNLDC1	154197	broad.mit.edu	37	6	160241522	160241522	+	Silent	SNP	G	G	A	rs144377714		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:160241522G>A	ENST00000275275.5	+	19	1707	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A	PNLDC1_ENST00000392167.3_Silent_p.A523A	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	512						integral to membrane|nucleus	nucleic acid binding	p.A512A(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCCTTCTCGCGTTCATCCTTG	0.627000													12	48					0	0	0.013537	0	0
SCN1A	6323	broad.mit.edu	37	2	166847946	166847946	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:166847946T>C	ENST00000423058.2	-	26	5856	c.5839A>G	c.(5839-5841)Atc>Gtc	p.I1947V	SCN1A_ENST00000303395.4_Missense_Mutation_p.I1947V|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1919V|SCN1A_ENST00000375405.3_Missense_Mutation_p.I1936V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1947						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I1947V(1)|p.I1936V(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCACCTTTGATTTTGTTTTTA	0.358000													24	44					0	0	0.004656	0	0
FRZB	2487	broad.mit.edu	37	2	183699582	183699582	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:183699582G>T	ENST00000295113.4	-	6	1581	c.972C>A	c.(970-972)cgC>cgA	p.R324R		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	324			R -> G (in hip OA susceptibility; has diminished ability to antagonize Wnt signaling, in vitro; dbSNP:rs7775).		brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R324R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GGATTTAGTTGCGTGCTTGCC	0.428000													10	24					2.17888e-05	2.61682e-05	0.006214	1	0
SH2D7	646892	broad.mit.edu	37	15	78390403	78390403	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:78390403C>A	ENST00000328828.5	+	3	399	c.399C>A	c.(397-399)ccC>ccA	p.P133P	SH2D7_ENST00000409568.2_5'UTR	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	133	SH2.							p.P133Q(1)		endometrium(2)|kidney(2)|lung(3)	7						AGCTCGAGCCCTTCAAAGAGA	0.627000													3	18					0.00909568	0.00960026	0.009096	1	0
OR2A14	135941	broad.mit.edu	37	7	143827000	143827000	+	Silent	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:143827000T>C	ENST00000408899.2	+	1	850	c.795T>C	c.(793-795)caT>caC	p.H265H		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H265H(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AGTCCCGCCATCCTGAGGAGC	0.547000													121	136					0	0	0.014410	0	0
TRIM28	10155	broad.mit.edu	37	19	59059178	59059178	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:59059178G>A	ENST00000253024.5	+	6	1148	c.859G>A	c.(859-861)Gta>Ata	p.V287I	TRIM28_ENST00000341753.6_Missense_Mutation_p.V205I	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	287	Leucine zipper alpha helical coiled-coil region.|RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	p.V287I(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGTGTCTGACGTACAGAAGCG	0.582000													12	53					0	0	0.010729	0	0
UMOD	7369	broad.mit.edu	37	16	20352615	20352615	+	Missense_Mutation	SNP	G	G	A	rs139607138	byFrequency	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:20352615G>A	ENST00000396134.2	-	8	1597	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	UMOD_ENST00000302509.4_Missense_Mutation_p.R459W|UMOD_ENST00000396138.4_Missense_Mutation_p.R508W|UMOD_ENST00000570689.1_Missense_Mutation_p.R459W|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.R492W|UMOD_ENST00000396142.2_Missense_Mutation_p.R459W	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	459	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.R459W(2)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGCGCCATCCGCACGGTGAAC	0.597000													4	34					0	0	0.001168	0	0
GABRB1	2560	broad.mit.edu	37	4	47408916	47408916	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:47408916G>T	ENST00000295454.3	+	8	1345	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N	GABRB1_ENST00000538619.1_Missense_Mutation_p.K281N	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	351					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.K351N(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCAATGAGAAGAATAAACTGG	0.393000													9	17					5.4927e-09	7.66646e-09	0.004482	1	0
AGBL1	123624	broad.mit.edu	37	15	86940733	86940733	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:86940733C>G	ENST00000441037.2	+	17	2468	c.2373C>G	c.(2371-2373)ttC>ttG	p.F791L	AGBL1_ENST00000389298.3_Missense_Mutation_p.F522L|AGBL1_ENST00000421325.2_Missense_Mutation_p.F791L	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	791					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ACTTCATCTTCAAGATCATAC	0.512000													3	71					0	0	0.004672	0	0
PLXNB2	23654	broad.mit.edu	37	22	50716360	50716360	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr22:50716360A>T	ENST00000449103.1	-	32	5110	c.4970T>A	c.(4969-4971)tTc>tAc	p.F1657Y	PLXNB2_ENST00000359337.4_Missense_Mutation_p.F1657Y			O15031	PLXB2_HUMAN	plexin B2	1657					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.F1700Y(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGTCGAAGAAGTACTTGAC	0.597000													21	56					0	0	0.008871	0	0
ACSL6	23305	broad.mit.edu	37	5	131312363	131312363	+	Nonsense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:131312363G>C	ENST00000379264.2	-	10	1076	c.968C>G	c.(967-969)tCa>tGa	p.S323*	ACSL6_ENST00000431707.1_Nonsense_Mutation_p.S278*|ACSL6_ENST00000379240.1_Nonsense_Mutation_p.S298*|ACSL6_ENST00000379255.1_Nonsense_Mutation_p.S263*|ACSL6_ENST00000379272.2_Nonsense_Mutation_p.S313*|ACSL6_ENST00000379244.1_Nonsense_Mutation_p.S298*|ACSL6_ENST00000543479.1_Nonsense_Mutation_p.S298*|ACSL6_ENST00000379246.1_Nonsense_Mutation_p.S309*|ACSL6_ENST00000296869.4_Nonsense_Mutation_p.S323*|ACSL6_ENST00000357096.1_Nonsense_Mutation_p.S263*|ACSL6_ENST00000379249.3_Nonsense_Mutation_p.S298*|ACSL6_ENST00000544770.1_Nonsense_Mutation_p.S207*	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	298					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.S323*(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGAAAGCCTGAGAAATCAGC	0.428000													8	60					0	0	0.008291	0	0
SPTA1	6708	broad.mit.edu	37	1	158595971	158595971	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:158595971C>G	ENST00000368148.3	-	42	6055	c.5875G>C	c.(5875-5877)Gac>Cac	p.D1959H	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.D1956H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1959					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	p.D1959H(1)		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)					TCACCAAGGTCTGCACCATTG	0.423000													6	33					0	0	0.004482	0	0
LRRC8C	84230	broad.mit.edu	37	1	90178352	90178352	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:90178352G>T	ENST00000370454.4	+	3	478	c.223G>T	c.(223-225)Gtt>Ttt	p.V75F	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	75						endoplasmic reticulum membrane|integral to membrane		p.V75F(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTCTCAAGCAGTTGCCAGTAC	0.478000													32	47					7.11191e-15	1.10579e-14	0.013726	1	0
NLGN4X	57502	broad.mit.edu	37	X	5827164	5827164	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:5827164C>A	ENST00000381095.3	-	4	1369	c.742G>T	c.(742-744)Gtg>Ttg	p.V248L	NLGN4X_ENST00000381092.1_Missense_Mutation_p.V248L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.V248L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.V248L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.V268L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	248					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.V248L(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AAGATGGTCACTCTCTTGGGG	0.592000													20	21					7.87624e-14	1.20903e-13	0.016522	1	0
SENP1	29843	broad.mit.edu	37	12	48482982	48482982	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:48482982C>A	ENST00000339976.6	-	5	793	c.411G>T	c.(409-411)atG>atT	p.M137I	SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000549595.1_Intron|SENP1_ENST00000448372.1_Intron|SENP1_ENST00000549518.1_Intron|SENP1_ENST00000004980.5_Intron|SENP1_ENST00000551330.1_Intron			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	0	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				CTGCCACAGCCATGTGCCTTA	0.453000													10	82					7.48243e-07	9.60887e-07	0.006214	1	0
ZNF229	7772	broad.mit.edu	37	19	44933335	44933335	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:44933335C>A	ENST00000291187.4	-	6	1925	c.1603G>T	c.(1603-1605)Gga>Tga	p.G535*	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Nonsense_Mutation_p.G541*|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G541*(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GGTTTCTCTCCTGTGTGCAGT	0.512000													14	257					2.31682e-05	2.77788e-05	0.003163	1	0
TTLL7	79739	broad.mit.edu	37	1	84417625	84417625	+	Silent	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:84417625T>A	ENST00000260505.8	-	3	437	c.60A>T	c.(58-60)acA>acT	p.T20T	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	20					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	p.T20T(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AAGGTAATTCTGTATTCAAAT	0.333000													17	55					0	0	0.006122	0	0
C1orf112	55732	broad.mit.edu	37	1	169798428	169798428	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:169798428C>G	ENST00000286031.6	+	13	1852	c.1152C>G	c.(1150-1152)ttC>ttG	p.F384L	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.F384L|C1orf112_ENST00000413811.2_Missense_Mutation_p.S312C	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	384								p.F384L(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGCCGTTTTCTACAGTTTTG	0.373000													4	54					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179593801	179593801	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:179593801A>G	ENST00000589042.1	-	65	19188	c.18964T>C	c.(18964-18966)Tct>Cct	p.S6322P	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S6005P|TTN_ENST00000342992.6_Missense_Mutation_p.S5078P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6005	Ig-like 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S5078P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTTATAGAAATAGGAGGA	0.393000													6	17					0	0	0.001984	0	0
DNAJC10	54431	broad.mit.edu	37	2	183605029	183605029	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:183605029C>G	ENST00000264065.6	+	12	1406	c.991C>G	c.(991-993)Ctc>Gtc	p.L331V		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	331					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	p.L331V(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTCTAGTTTCTCAACTCATT	0.249000													3	19					0	0	0.004672	0	0
STAP2	55620	broad.mit.edu	37	19	4325419	4325419	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:4325419G>A	ENST00000600324.1	-	10	1020	c.953C>T	c.(952-954)cCa>cTa	p.P318L	STAP2_ENST00000597593.1_5'UTR|STAP2_ENST00000594605.1_Missense_Mutation_p.P318L	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	318	Pro-rich.					cytoplasm|nucleus	protein binding	p.P318L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCAACAGCTGGGCCATCTCC	0.577000													19	101					0	0	0.007413	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112326315	112326315	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:112326315G>A	ENST00000550735.2	+	11	1749	c.993G>A	c.(991-993)caG>caA	p.Q331Q	MAPKAPK5_ENST00000551404.2_Silent_p.Q331Q	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	331					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	p.Q331Q(2)		endometrium(1)|lung(11)|ovary(1)	13						GAATCCAGCAGGCTCACGCGG	0.498000													10	88					0	0	0.008291	0	0
SLC39A4	55630	broad.mit.edu	37	8	145641555	145641555	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:145641555G>A	ENST00000276833.5	-	1	341	c.38C>T	c.(37-39)cCt>cTt	p.P13L	SLC39A4_ENST00000301305.3_Intron	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	0						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	p.P13L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GCTTCCCCGAGGGCCTGTTTC	0.662000													11	10					0	0	0.010729	0	0
ATP5F1	515	broad.mit.edu	37	1	111998816	111998816	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:111998816A>G	ENST00000369722.3	+	4	938	c.332A>G	c.(331-333)tAt>tGt	p.Y111C	ATP5F1_ENST00000483994.1_Missense_Mutation_p.Y50C|ATP5F1_ENST00000369721.4_3'UTR	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	111					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding	p.Y111C(1)		breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTAATGGTCTATGGAATTAAA	0.373000													5	100					0	0	0.001168	0	0
MYOCD	93649	broad.mit.edu	37	17	12656601	12656601	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:12656601G>T	ENST00000425538.1	+	10	2196	c.1996G>T	c.(1996-1998)Ggg>Tgg	p.G666W	MYOCD_ENST00000343344.4_Missense_Mutation_p.G666W|MYOCD_ENST00000395988.1_Missense_Mutation_p.G570W	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	647					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.G666W(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTCATCCTCCGGGGCCCAGGG	0.607000													11	71					1.5842e-08	2.17752e-08	0.016723	1	0
GABRB1	2560	broad.mit.edu	37	4	47034433	47034433	+	Splice_Site	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:47034433G>T	ENST00000295454.3	+	3	464		c.e3-1		GABRB1_ENST00000509366.1_Splice_Site|GABRB1_ENST00000538619.1_Intron	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1						synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.?(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTCCCCGGCAGGGCCCCCCGT	0.627000													34	155					3.62531e-18	5.86375e-18	0.019004	1	0
CDC40	51362	broad.mit.edu	37	6	110522870	110522870	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:110522870G>T	ENST00000368932.1	+	4	487	c.386G>T	c.(385-387)aGg>aTg	p.R129M	CDC40_ENST00000368933.1_Missense_Mutation_p.R129M|CDC40_ENST00000307731.1_Missense_Mutation_p.R129M|CDC40_ENST00000368930.1_Missense_Mutation_p.R129M			O60508	PRP17_HUMAN	cell division cycle 40	129					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		p.R129M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		GAGCAGCAAAGGAGAACTTTT	0.383000													8	59					0.00448238	0.00485144	0.004482	1	0
USP33	23032	broad.mit.edu	37	1	78189129	78189129	+	Splice_Site	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:78189129C>A	ENST00000370793.1	-	13	1716		c.e13-1		USP33_ENST00000357428.1_Splice_Site|USP33_ENST00000370792.3_Splice_Site|USP33_ENST00000370794.3_Splice_Site	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33						axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GCAGACTGAGCTAGGATTGAA	0.318000													4	24					0.00024832	0.000282288	0.009096	1	0
MCM10	55388	broad.mit.edu	37	10	13239666	13239666	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:13239666C>A	ENST00000378694.1	+	14	2093	c.2018C>A	c.(2017-2019)aCa>aAa	p.T673K	MCM10_ENST00000378714.3_Missense_Mutation_p.T673K|MCM10_ENST00000484800.2_Missense_Mutation_p.T674K			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	674					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	p.T674K(1)		central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CAGGTTCTTACAAAAACAAAC	0.398000													8	54					1.06961e-07	1.42681e-07	0.003080	1	0
ACTR5	79913	broad.mit.edu	37	20	37384668	37384668	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:37384668G>C	ENST00000243903.4	+	5	1199	c.1162G>C	c.(1162-1164)Gac>Cac	p.D388H		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	388					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	p.D388H(1)		kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GGATGTGGTAGACAGCAAGCC	0.542000													5	23					0	0	0.014758	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111633124	111633124	+	Splice_Site	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:111633124C>T	ENST00000369680.4	-	16	1572		c.e16+1		XPNPEP1_ENST00000322238.8_Splice_Site|XPNPEP1_ENST00000369683.1_Splice_Site|XPNPEP1_ENST00000502935.1_Splice_Site	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble						bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.?(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CTCCACCTTACCTTCTCGTAG	0.408000													12	143					0	0	0.016723	0	0
NXPE4	54827	broad.mit.edu	37	11	114441811	114441811	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:114441811T>A	ENST00000375478.3	-	6	1664	c.1484A>T	c.(1483-1485)cAa>cTa	p.Q495L	NXPE4_ENST00000424261.2_Missense_Mutation_p.Q211L	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4									p.Q495L(1)									GATGAGATATTGAATGTAACC	0.378000													18	59					0	0	0.010504	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163534	163534	+	Missense_Mutation	SNP	C	C	A	rs144505991	byFrequency	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:163534C>A	ENST00000283426.6	+	11	2329	c.2279C>A	c.(2278-2280)aCt>aAt	p.T760N		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	760					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.T760N(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTAACCAGCACTGTAGCCACA	0.627000													66	72					1.02487e-32	1.7855e-32	0.014410	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125876315	125876315	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:125876315G>T	ENST00000393434.2	-	4	748	c.399C>A	c.(397-399)tcC>tcA	p.S133S	ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000393431.2_Silent_p.S133S|ALDH1L1_ENST00000472186.1_Silent_p.S133S|ALDH1L1_ENST00000273450.3_Silent_p.S143S|ALDH1L1_ENST00000452905.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	133	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.S133S(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCAGAAGATGGAAAACCCCC	0.577000													9	59					3.86212e-05	4.55516e-05	0.008291	1	0
NDST4	64579	broad.mit.edu	37	4	115749058	115749058	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:115749058G>T	ENST00000264363.2	-	14	3211	c.2533C>A	c.(2533-2535)Cat>Aat	p.H845N		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	845	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.H845N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCCACATTATGATCTCGGTAG	0.413000													4	19					0.00909568	0.00960026	0.009096	1	0
ANAPC4	29945	broad.mit.edu	37	4	25382048	25382048	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:25382048A>G	ENST00000315368.3	+	3	324	c.182A>G	c.(181-183)aAt>aGt	p.N61S	ANAPC4_ENST00000510092.1_Missense_Mutation_p.N61S	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	61					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	p.N61S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTTCCACCAAATGAAAATACA	0.343000													9	34					0	0	0.006214	0	0
MAP7D3	79649	broad.mit.edu	37	X	135303096	135303096	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:135303096T>A	ENST00000316077.9	-	16	2534	c.2314A>T	c.(2314-2316)Acc>Tcc	p.T772S	MAP7D3_ENST00000370661.1_Missense_Mutation_p.T737S|MAP7D3_ENST00000370663.5_Missense_Mutation_p.T754S	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	772						cytoplasm|spindle		p.T1069S(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTAAATTTGGTAGGTGAGCCT	0.363000													128	113					0	0	0.014410	0	0
TBX15	6913	broad.mit.edu	37	1	119467342	119467342	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:119467342T>A	ENST00000369429.3	-	4	629	c.620A>T	c.(619-621)gAc>gTc	p.D207V	TBX15_ENST00000207157.3_Missense_Mutation_p.D101V			Q96SF7	TBX15_HUMAN	T-box 15	207						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.D101V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CATCCAGGTGTCTCCAGAAGC	0.458000													40	139					0	0	0.008740	0	0
NDUFB4	4710	broad.mit.edu	37	3	120320105	120320105	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:120320105G>A	ENST00000485064.1	+	2	360	c.328G>A	c.(328-330)Gta>Ata	p.V110I	NDUFB4_ENST00000492739.1_Intron|NDUFB4_ENST00000184266.2_Splice_Site	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	0					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.V110I(1)|p.?(1)		breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	AACTGAGAGGGTAAGTATTCA	0.443000													11	140					0	0	0.013537	0	0
KIFC1	3833	broad.mit.edu	37	6	33371703	33371703	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:33371703C>T	ENST00000428849.2	+	6	1003	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	185					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	p.R185C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GGGGACAGAGCGCACAACACT	0.592000													6	139					0	0	0.001168	0	0
OR4A15	81328	broad.mit.edu	37	11	55136012	55136012	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:55136012C>A	ENST00000314706.3	+	1	653	c.653C>A	c.(652-654)aCc>aAc	p.T218N		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T218N(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTTGCTTGCACCAATACCTAT	0.413000													14	33					3.45872e-05	4.12649e-05	0.004007	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37486390	37486390	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:37486390G>C	ENST00000374660.1	+	35	2986	c.2887G>C	c.(2887-2889)Gaa>Caa	p.E963Q	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E844Q|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E844Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1010						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E844Q(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTGAAGAATGAACAAACATT	0.333000													4	57					0	0	0.009096	0	0
ZNF300	91975	broad.mit.edu	37	5	150276158	150276158	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:150276158T>C	ENST00000446148.2	-	7	1118	c.691A>G	c.(691-693)Agt>Ggt	p.S231G	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.S179G|ZNF300_ENST00000274599.5_Missense_Mutation_p.S215G|ZNF300_ENST00000394226.2_Missense_Mutation_p.S215G	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S215G(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCAAAACTCTGATCAGGT	0.338000													6	37					0	0	0.001168	0	0
DDX4	54514	broad.mit.edu	37	5	55059044	55059044	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:55059044G>T	ENST00000505374.1	+	5	339	c.247G>T	c.(247-249)Ggt>Tgt	p.G83C	DDX4_ENST00000514278.2_Missense_Mutation_p.G83C|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000353507.5_Missense_Mutation_p.G83C|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000354991.5_Missense_Mutation_p.G83C	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	83	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.G83C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATCCACAATGGGTGGTTTTGG	0.318000													3	29					0.00024832	0.000282288	0.009096	1	0
CHN2	1124	broad.mit.edu	37	7	29440373	29440373	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:29440373A>G	ENST00000222792.6	+	6	1035	c.505A>G	c.(505-507)Agg>Ggg	p.R169G	CHN2_ENST00000539389.1_Intron|CHN2_ENST00000539406.1_Missense_Mutation_p.R244G|CHN2_ENST00000546235.1_Missense_Mutation_p.R154G|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000495789.2_Missense_Mutation_p.R182G	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	169					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.R169G(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AGTATCCAGAAGGCTGAGCAG	0.423000													20	59					0	0	0.008871	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64719040	64719040	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:64719040C>T	ENST00000338957.4	+	3	977	c.910C>T	c.(910-912)Ctt>Ttt	p.L304F	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L293F	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	293							endonuclease activity|nucleic acid binding|zinc ion binding	p.L154F(1)|p.L240F(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTACCGAGACCTTCAAGTTGA	0.428000													30	26					0	0	0.008361	0	0
MAGEA10	4109	broad.mit.edu	37	X	151302988	151302988	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:151302988C>A	ENST00000370323.4	-	4	1421	c.1105G>T	c.(1105-1107)Gaa>Taa	p.E369*	MAGEA10_ENST00000244096.3_Nonsense_Mutation_p.E369*|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	369								p.E369*(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTACTTTATTCAGGGTAGGAG	0.388000													18	62					3.51602e-12	5.2414e-12	0.008871	1	0
UGT8	7368	broad.mit.edu	37	4	115544547	115544547	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:115544547C>T	ENST00000310836.6	+	2	1033	c.511C>T	c.(511-513)Cct>Tct	p.P171S	UGT8_ENST00000394511.3_Missense_Mutation_p.P171S	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	171					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	p.P171S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGTGGGTGCTCCTGCTCCATT	0.443000													15	69					0	0	0.003163	0	0
MSANTD4	84437	broad.mit.edu	37	11	105881245	105881245	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:105881245C>A	ENST00000301919.4	-	2	1815	c.400G>T	c.(400-402)Gca>Tca	p.A134S		NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	134						nucleus		p.A134S(1)									GATCCACCTGCATCCCTGAAA	0.423000													59	48					2.20561e-19	3.61601e-19	0.014410	1	0
CTIF	9811	broad.mit.edu	37	18	46385872	46385872	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:46385872C>G	ENST00000256413.3	+	12	2034	c.1739C>G	c.(1738-1740)cCt>cGt	p.P580R	CTIF_ENST00000382998.4_Missense_Mutation_p.P582R	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	580					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	p.P580R(1)|p.?(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						AGCTGGAACCCTCTGACGCCC	0.652000													15	58					0	0	0.004990	0	0
TLR4	7099	broad.mit.edu	37	9	120475965	120475965	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:120475965C>A	ENST00000355622.6	+	3	1660	c.1559C>A	c.(1558-1560)tCc>tAc	p.S520Y	TLR4_ENST00000394487.4_Missense_Mutation_p.S480Y|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	520					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.S520Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AACTCACTCTCCAGTCTTCAG	0.433000													17	37					1.99824e-07	2.63156e-07	0.004990	1	0
GPM6B	2824	broad.mit.edu	37	X	13825814	13825814	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:13825814G>A	ENST00000316715.4	-	2	573	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	GPM6B_ENST00000454189.2_Intron|GPM6B_ENST00000398361.3_Intron|GPM6B_ENST00000355135.2_Missense_Mutation_p.P46S|GPM6B_ENST00000356942.5_Intron|GPM6B_ENST00000493677.1_Missense_Mutation_p.P20S	NM_001001995.1	NP_001001995.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	20					cell differentiation|nervous system development	integral to membrane		p.P46S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						GTTGGCACGGGATGGTACTGG	0.493000													8	66					0	0	0.003080	0	0
LMF1	64788	broad.mit.edu	37	16	929612	929612	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:929612C>A	ENST00000262301.11	-	6	873	c.855G>T	c.(853-855)cgG>cgT	p.R285R	LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000543238.1_Silent_p.R48R|LMF1_ENST00000399843.2_Silent_p.R285R|LMF1_ENST00000568897.1_Silent_p.R68R	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	285						endoplasmic reticulum membrane|integral to membrane		p.R285R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				TGCACGCCCGCCGGCCGAGGA	0.662000													4	18					1.23904e-05	1.50055e-05	0.014758	1	0
ADH4	127	broad.mit.edu	37	4	100052734	100052734	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:100052734G>T	ENST00000508393.1	-	7	986	c.821C>A	c.(820-822)cCg>cAg	p.P274Q	ADH4_ENST00000265512.7_Missense_Mutation_p.P255Q|ADH4_ENST00000505590.1_Missense_Mutation_p.P274Q|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000423445.1_Missense_Mutation_p.P274Q			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	255					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	p.P255Q(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	TTCCTGGATCGGTTTATGTAA	0.443000													13	25					0.00010058	0.000116351	0.013537	1	0
HBG2	3048	broad.mit.edu	37	11	5275539	5275539	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:5275539C>A	ENST00000380259.2	-	7	1538	c.298G>T	c.(298-300)Gat>Tat	p.D100Y	HBG2_ENST00000336906.4_Missense_Mutation_p.D100Y|HBG2_ENST00000380252.1_Missense_Mutation_p.D90Y					hemoglobin, gamma G									p.D100Y(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTCAGGATCCACATGCAGC	0.502000													21	49					4.4004e-07	5.72211e-07	0.018920	1	0
PIWIL2	55124	broad.mit.edu	37	8	22210612	22210612	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:22210612G>T	ENST00000356766.6	+	21	2692	c.2544G>T	c.(2542-2544)gtG>gtT	p.V848V	PIWIL2_ENST00000454009.2_Silent_p.V848V|PIWIL2_ENST00000521356.1_Silent_p.V848V	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	848	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	p.V848V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCAAGATGGTGGTGTTTGTAG	0.408000													45	103					4.21674e-32	7.31103e-32	0.014410	1	0
NRXN1	9378	broad.mit.edu	37	2	50280416	50280416	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:50280416A>T	ENST00000404971.1	-	22	5580	c.4241T>A	c.(4240-4242)aTt>aAt	p.I1414N	NRXN1_ENST00000402717.3_Missense_Mutation_p.I1366N|NRXN1_ENST00000406859.3_Missense_Mutation_p.I1344N|NRXN1_ENST00000342183.5_Missense_Mutation_p.I309N|NRXN1_ENST00000401710.1_Missense_Mutation_p.I362N|NRXN1_ENST00000406316.2_Missense_Mutation_p.I1344N|NRXN1_ENST00000405472.3_Missense_Mutation_p.I1366N|NRXN1_ENST00000401669.2_Missense_Mutation_p.I1374N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1344					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.I309N(1)|p.I1415N(1)|p.I1344N(1)|p.I1414N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACCTGGCTAATGGGTTCTTT	0.428000													7	89					0	0	0.001984	0	0
ABCC5	10057	broad.mit.edu	37	3	183645220	183645220	+	Silent	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:183645220T>A	ENST00000334444.6	-	28	4185	c.3945A>T	c.(3943-3945)ctA>ctT	p.L1315L	ABCC5_ENST00000265586.6_Silent_p.L1272L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1315	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.L1315L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTTCAGAGGTAGCTGAGCAA	0.453000													10	15					0	0	0.006214	0	0
TRIO	7204	broad.mit.edu	37	5	14462918	14462918	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:14462918G>T	ENST00000344204.4	+	36	5575	c.5551G>T	c.(5551-5553)Ggg>Tgg	p.G1851W	TRIO_ENST00000537187.1_Missense_Mutation_p.G1851W|TRIO_ENST00000515710.1_3'UTR	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1851					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.G1851W(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTCCTCCTCGGGGATGCAGAG	0.612000													82	79					8.6838e-40	1.52388e-39	0.014410	1	0
CASP9	842	broad.mit.edu	37	1	15844850	15844850	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:15844850A>C	ENST00000546424.1	-	2	417	c.173T>G	c.(172-174)cTg>cGg	p.L58R	CASP9_ENST00000375890.4_5'UTR|CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000333868.5_Missense_Mutation_p.L58R|CASP9_ENST00000348549.5_Missense_Mutation_p.L58R			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	58	CARD.				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	p.L58R(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ATCTATGATCAGCTGCCTGGC	0.517000													15	55					0	0	0.004007	0	0
OR52E2	119678	broad.mit.edu	37	11	5080000	5080000	+	Silent	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:5080000T>A	ENST00000321522.2	-	1	857	c.858A>T	c.(856-858)ccA>ccT	p.P286P		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P286P(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GATTGAGCATTGGTGGCACCA	0.423000													12	25					0	0	0.016723	0	0
SHISA4	149345	broad.mit.edu	37	1	201860534	201860534	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:201860534G>T	ENST00000362011.6	+	4	672	c.385G>T	c.(385-387)Gag>Tag	p.E129*	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	129						integral to membrane		p.E129*(1)		kidney(1)|lung(4)	5						TCTAGGCCAGGAGATTCCAAT	0.587000													41	67					6.61955e-31	1.14496e-30	0.014410	1	0
CADM2	253559	broad.mit.edu	37	3	85932594	85932594	+	Splice_Site	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:85932594G>T	ENST00000383699.3	+	4	1018		c.e4+1		CADM2_ENST00000405615.2_Splice_Site|CADM2_ENST00000407528.2_Splice_Site	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2						adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.?(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACCGTTCTGGGTAAGTGCAAG	0.353000													8	28					0.000274275	0.00031033	0.004482	1	0
TAS2R40	259286	broad.mit.edu	37	7	142919937	142919937	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:142919937T>C	ENST00000408947.3	+	1	808	c.766T>C	c.(766-768)Tac>Cac	p.Y256H		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	256					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.Y256H(2)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TCTCATCCTCTACATTTTCAA	0.478000													15	165					0	0	0.003163	0	0
LCP2	3937	broad.mit.edu	37	5	169714976	169714976	+	Silent	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:169714976C>G	ENST00000046794.5	-	3	801	c.186G>C	c.(184-186)gtG>gtC	p.V62V		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	62	SAM.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding	p.V62V(4)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GTACTTACGGCACCCGGAGCT	0.527000													4	53					0	0	0.014758	0	0
GRB7	2886	broad.mit.edu	37	17	37902199	37902199	+	Missense_Mutation	SNP	G	G	A	rs149195822		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:37902199G>A	ENST00000309156.4	+	13	1561	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	GRB7_ENST00000394204.1_Intron|GRB7_ENST00000309185.3_Intron|GRB7_ENST00000445327.2_Missense_Mutation_p.R458H|GRB7_ENST00000394209.2_Missense_Mutation_p.R435H|GRB7_ENST00000394211.3_Missense_Mutation_p.R435H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	435	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	p.R435H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTCCACGGGCGCATTTCCCGT	0.622000													5	183					0	0	0.014758	0	0
ADAM33	80332	broad.mit.edu	37	20	3653196	3653196	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:3653196G>C	ENST00000356518.2	-	13	1630	c.1389C>G	c.(1387-1389)tgC>tgG	p.C463W	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Missense_Mutation_p.C463W|ADAM33_ENST00000350009.2_Missense_Mutation_p.C463W	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	463	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.C463W(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGCAGCGCACGCAGCAGTCCC	0.652000													11	74					0	0	0.013537	0	0
ZNF385D	79750	broad.mit.edu	37	3	21706377	21706377	+	Splice_Site	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:21706377C>A	ENST00000281523.2	-	2	684		c.e2+1		ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D							nucleus	nucleic acid binding|zinc ion binding	p.?(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CAGGTACTTACCGCATTGAAA	0.468000													20	73					1.50039e-11	2.20933e-11	0.012319	1	0
YIPF7	285525	broad.mit.edu	37	4	44638050	44638050	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:44638050G>T	ENST00000332990.5	-	3	257	c.241C>A	c.(241-243)Ctc>Atc	p.L81I		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	81						endoplasmic reticulum membrane|integral to membrane		p.L81I(1)		breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GATGACATGAGCATCTCTGAT	0.408000													10	25					2.17888e-05	2.61682e-05	0.006214	1	0
ZC3H3	23144	broad.mit.edu	37	8	144522481	144522481	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:144522481G>A	ENST00000262577.5	-	11	2576	c.2545C>T	c.(2545-2547)Ctc>Ttc	p.L849F		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	849					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	p.L849F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCCGCAGTGAGGGCAGCCGAG	0.692000													3	16					0	0	0.004672	0	0
CDC23	8697	broad.mit.edu	37	5	137542338	137542338	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:137542338G>A	ENST00000505120.1	-	3	276	c.266C>T	c.(265-267)cCa>cTa	p.P89L	CDC23_ENST00000394884.3_Silent_p.A90A|CDC23_ENST00000394886.2_Silent_p.A90A			Q9UJX2	CDC23_HUMAN	cell division cycle 23	572					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	p.A84A(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGTAGGCCTTGGCCAGGGTAT	0.403000													9	73					0	0	0.008291	0	0
ZNF829	374899	broad.mit.edu	37	19	37382996	37382996	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:37382996T>A	ENST00000520965.1	-	6	1006	c.940A>T	c.(940-942)Att>Ttt	p.I314F	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.I233F|ZNF345_ENST00000432005.2_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I233F(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGTGTGAATCCTCTGATGT	0.378000													4	72					0	0	0.009096	0	0
MYH14	79784	broad.mit.edu	37	19	50804968	50804968	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:50804968G>A	ENST00000440075.2	+	40	5567	c.5520G>A	c.(5518-5520)aaG>aaA	p.K1840K	MYH14_ENST00000598205.1_Silent_p.K1807K|MYH14_ENST00000601313.1_Silent_p.K1840K|MYH14_ENST00000596571.1_Silent_p.K1799K|MYH14_ENST00000425460.1_Silent_p.K1807K|MYH14_ENST00000376970.2_Silent_p.K1832K|MYH14_ENST00000262269.8_Silent_p.K1840K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1799					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.K1840K(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCTCAGCCAAGGCAGAGAGCG	0.622000													9	53					0	0	0.013537	0	0
SVEP1	79987	broad.mit.edu	37	9	113261339	113261339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:113261339G>A	ENST00000401783.2	-	7	1999	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	SVEP1_ENST00000302728.8_Nonsense_Mutation_p.Q555*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.Q532*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.Q532*|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	555	Sushi 3.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.Q555*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACAGCTGCCTGAACTCCGACA	0.418000													3	15					0	0	0.004672	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	rs11554290		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:115256529T>A	ENST00000369535.4	-	3	435	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			100	88					0	0	0.014410	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342676	40342676	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:40342676A>T	ENST00000406785.1	-	8	2720	c.2531T>A	c.(2530-2532)cTg>cAg	p.L844Q	SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.L844Q|SLC8A1_ENST00000332839.4_Missense_Mutation_p.L880Q|SLC8A1_ENST00000406391.2_Missense_Mutation_p.L844Q|SLC8A1_ENST00000408028.2_Missense_Mutation_p.L872Q|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.L844Q|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.L875Q|SLC8A1_ENST00000405901.3_Missense_Mutation_p.L875Q|SLC8A1_ENST00000542024.1_Missense_Mutation_p.L844Q|SLC8A1_ENST00000403092.1_Missense_Mutation_p.L880Q|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	880					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.L880Q(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCGATTCCCAGGAAGACATT	0.567000													12	48					0	0	0.010729	0	0
PTPRC	5788	broad.mit.edu	37	1	198725263	198725263	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:198725263C>A	ENST00000367376.2	+	33	4039	c.3868C>A	c.(3868-3870)Cat>Aat	p.H1290N	PTPRC_ENST00000442510.2_Missense_Mutation_p.H1292N|PTPRC_ENST00000348564.6_Missense_Mutation_p.H1131N|PTPRC_ENST00000352140.3_Missense_Mutation_p.H1242N|PTPRC_ENST00000594404.1_Missense_Mutation_p.H1129N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1290					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.H1290N(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGGGCCAGAACATTCTGTCAA	0.448000													16	18					1.67942e-08	2.29965e-08	0.006122	1	0
FGD5	152273	broad.mit.edu	37	3	14862143	14862143	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:14862143C>A	ENST00000285046.5	+	1	1675	c.1565C>A	c.(1564-1566)aCg>aAg	p.T522K	FGD5_ENST00000543601.1_Missense_Mutation_p.T281K	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	522					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	p.T522K(1)|p.T281K(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTGGGAAAGACGCTTTTGTCA	0.612000													10	35					2.17888e-05	2.61682e-05	0.006214	1	0
PAGE2	203569	broad.mit.edu	37	X	55117812	55117812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:55117812G>T	ENST00000374968.4	+	4	345	c.241G>T	c.(241-243)Gag>Tag	p.E81*	PAGE2_ENST00000374965.1_Nonsense_Mutation_p.E64*	NM_207339.2	NP_997222.1			P antigen family, member 2 (prostate associated)									p.E81*(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(2)	6						GCTTAAGATAGAGGATGAGCC	0.403000													32	22					1.59932e-28	2.74007e-28	0.007835	1	0
FAM131B	9715	broad.mit.edu	37	7	143056027	143056027	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:143056027C>A	ENST00000409408.1	-	4	1983	c.275G>T	c.(274-276)gGg>gTg	p.G92V	FAM131B_ENST00000409222.3_Missense_Mutation_p.G92V|FAM131B_ENST00000443739.2_Missense_Mutation_p.G120V|FAM131B_ENST00000409578.1_Missense_Mutation_p.G108V|FAM131B_ENST00000409346.1_Missense_Mutation_p.G92V			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	92								p.G92V(1)|p.G120V(1)|p.G120E(1)|p.G92E(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TGGTGTCTTCCCCCAGCCCTG	0.607000													10	25					0.000978159	0.00108302	0.010729	1	0
MRPL14	64928	broad.mit.edu	37	6	44081627	44081627	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:44081627C>T	ENST00000372014.3	-	3	522	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	131					translation	mitochondrion|ribosome	structural constituent of ribosome	p.E131K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			TACTCGCCTTCCCGCTTGCGC	0.562000													7	47					0	0	0.003080	0	0
LUZP4	51213	broad.mit.edu	37	X	114540964	114540964	+	Missense_Mutation	SNP	G	G	T	rs2232735	byFrequency	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:114540964G>T	ENST00000371920.3	+	4	544	c.537G>T	c.(535-537)caG>caT	p.Q179H	LUZP4_ENST00000451986.2_Missense_Mutation_p.Q97H	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	179						nucleus		p.Q179H(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CTCAAGGGCAGCTAAAGAGAC	0.458000													29	36					9.80776e-20	1.61159e-19	0.006320	1	0
MPEG1	219972	broad.mit.edu	37	11	58978321	58978321	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:58978321G>A	ENST00000361050.3	-	1	2103	c.2018C>T	c.(2017-2019)aCc>aTc	p.T673I		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	673						integral to membrane		p.T673I(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GATGGCCAAGGTGATAACAAC	0.552000													25	56					0	0	0.016522	0	0
KDM4C	23081	broad.mit.edu	37	9	6814718	6814718	+	Silent	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:6814718A>T	ENST00000381309.3	+	4	973	c.408A>T	c.(406-408)gcA>gcT	p.A136A	KDM4C_ENST00000535193.1_Silent_p.A158A|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000543771.1_Silent_p.A136A|KDM4C_ENST00000381306.3_Silent_p.A136A|KDM4C_ENST00000536108.1_Intron|KDM4C_ENST00000401787.3_Silent_p.A136A|KDM4C_ENST00000442236.2_5'UTR	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	136					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.A136A(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TCTATGGTGCAGATATTAATG	0.353000													4	35					0	0	0.014758	0	0
ATP2B3	492	broad.mit.edu	37	X	152814197	152814197	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:152814197C>T	ENST00000370186.1	+	8	1507	c.1181C>T	c.(1180-1182)cCg>cTg	p.P394L	ATP2B3_ENST00000370181.2_Missense_Mutation_p.P394L|ATP2B3_ENST00000263519.4_Missense_Mutation_p.P408L|ATP2B3_ENST00000393842.1_Missense_Mutation_p.P394L|ATP2B3_ENST00000349466.2_Missense_Mutation_p.P408L|ATP2B3_ENST00000359149.3_Missense_Mutation_p.P408L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	408					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.P408L(3)|p.P394L(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGTGCACGCCGGTCTATGTA	0.542000													32	25					0	0	0.012213	0	0
COL6A6	131873	broad.mit.edu	37	3	130292971	130292971	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:130292971C>A	ENST00000358511.6	+	7	3180	c.3149C>A	c.(3148-3150)cCg>cAg	p.P1050Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.P1050Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1050	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen		p.P1050Q(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACCTATCACCCGGAGTTTCCA	0.433000													5	31					0.014758	0.0154191	0.014758	1	0
MDGA1	266727	broad.mit.edu	37	6	37620084	37620084	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:37620084C>A	ENST00000434837.2	-	7	2193	c.1015G>T	c.(1015-1017)Gac>Tac	p.D339Y	MDGA1_ENST00000505425.1_Missense_Mutation_p.D339Y|MDGA1_ENST00000297153.7_Missense_Mutation_p.D339Y	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	339	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.D339Y(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TTGATCACGTCAGGAGTGATC	0.572000													9	18					0.000442599	0.000496893	0.006214	1	0
HTR2A	3356	broad.mit.edu	37	13	47409209	47409209	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:47409209C>A	ENST00000378688.4	-	3	1310	c.1179G>T	c.(1177-1179)cgG>cgT	p.R393R	HTR2A_ENST00000543956.1_Silent_p.R309R|HTR2A_ENST00000542664.1_Silent_p.R393R			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	393					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.R393R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACTGAATATACCGTGAAAAGG	0.418000													13	47					5.50884e-06	6.78516e-06	0.013537	1	0
DAGLA	747	broad.mit.edu	37	11	61511175	61511175	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:61511175G>T	ENST00000257215.5	+	20	2459	c.2343G>T	c.(2341-2343)gaG>gaT	p.E781D		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	781					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.E781D(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCACCATGGAGAGCCTCTCGG	0.721000													13	44					4.93089e-13	7.45823e-13	0.020292	1	0
EIF4G1	1981	broad.mit.edu	37	3	184039251	184039251	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:184039251A>G	ENST00000342981.4	+	9	1293	c.879A>G	c.(877-879)atA>atG	p.I293M	EIF4G1_ENST00000427845.1_Missense_Mutation_p.I206M|EIF4G1_ENST00000352767.3_Missense_Mutation_p.I300M|EIF4G1_ENST00000441154.1_Missense_Mutation_p.I129M|EIF4G1_ENST00000382330.3_Missense_Mutation_p.I300M|EIF4G1_ENST00000319274.6_Missense_Mutation_p.I293M|EIF4G1_ENST00000411531.1_Missense_Mutation_p.I253M|EIF4G1_ENST00000414031.1_Missense_Mutation_p.I253M|EIF4G1_ENST00000346169.2_Missense_Mutation_p.I293M|EIF4G1_ENST00000424196.1_Missense_Mutation_p.I300M|EIF4G1_ENST00000350481.5_Missense_Mutation_p.I129M|EIF4G1_ENST00000435046.2_Missense_Mutation_p.I97M|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.I206M|EIF4G1_ENST00000434061.2_Missense_Mutation_p.I97M	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	293					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.I293M(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACAACTATACAAATGTCTG	0.547000													10	45					0	0	0.006214	0	0
ADAM2	2515	broad.mit.edu	37	8	39645695	39645695	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:39645695T>C	ENST00000265708.4	-	9	821	c.718A>G	c.(718-720)Act>Gct	p.T240A	ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Missense_Mutation_p.T240A|ADAM2_ENST00000347580.4_Missense_Mutation_p.T221A	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	240	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.T240A(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GCTTCTCCAGTGGTTGCAATT	0.289000													4	8					0	0	0.009096	0	0
OR8K1	390157	broad.mit.edu	37	11	56114132	56114132	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:56114132G>T	ENST00000279783.2	+	1	712	c.618G>T	c.(616-618)ttG>ttT	p.L206F		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L206F(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TAATAATTTTGATCTTCTCAG	0.373000										HNSCC(65;0.19)			12	50					3.03607e-14	4.69034e-14	0.013537	1	0
KPNB1	3837	broad.mit.edu	37	17	45748181	45748181	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:45748181C>T	ENST00000290158.4	+	12	1937	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L	KPNB1_ENST00000537679.1_Silent_p.L294L|KPNB1_ENST00000535458.2_Silent_p.L365L|KPNB1_ENST00000540627.1_Silent_p.L365L	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	510					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	p.L510L(1)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						TTCAGAAGCTCCTAGAGACTA	0.418000													14	129					0	0	0.020292	0	0
ZNF416	55659	broad.mit.edu	37	19	58089425	58089425	+	Splice_Site	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:58089425C>A	ENST00000196489.3	-	2	297	c.75_splice	c.e2+1	p.Q25_splice		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q25H(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCCACTCACCTGTGTAAAGC	0.527000													12	41					2.68362e-12	4.0088e-12	0.013537	1	0
PPP2R2B	5521	broad.mit.edu	37	5	146070805	146070805	+	Splice_Site	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:146070805T>A	ENST00000394413.3	-	4	905		c.e4-2		PPP2R2B_ENST00000508545.2_Splice_Site|PPP2R2B_ENST00000394414.1_Splice_Site|PPP2R2B_ENST00000504198.1_Splice_Site|PPP2R2B_ENST00000394411.4_Splice_Site|PPP2R2B_ENST00000394409.3_Splice_Site|PPP2R2B_ENST00000530902.1_Splice_Site|PPP2R2B_ENST00000453001.1_Splice_Site|PPP2R2B_ENST00000336640.6_Splice_Site|PPP2R2B_ENST00000356826.3_Splice_Site|PPP2R2B_ENST00000394410.2_Splice_Site			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta						apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.?(4)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTTTTATCTGTAGTGGGCA	0.498000													7	37					0	0	0.001984	0	0
TGM1	7051	broad.mit.edu	37	14	24727494	24727494	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:24727494T>A	ENST00000206765.6	-	9	1522	c.1399A>T	c.(1399-1401)Agt>Tgt	p.S467C	TGM1_ENST00000544573.1_Missense_Mutation_p.S25C	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	467					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	p.S467C(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGCTTACCACTGCTAGTCTCT	0.617000													3	30					0	0	0.004672	0	0
ZBTB14	7541	broad.mit.edu	37	18	5290937	5290937	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:5290937G>C	ENST00000357006.4	-	4	1608	c.1270C>G	c.(1270-1272)Cag>Gag	p.Q424E	ZBTB14_ENST00000400143.3_Missense_Mutation_p.Q424E	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14									p.Q424E(1)									GTCTCGCTCTGGATGGCACTG	0.567000													30	63					0	0	0.009535	0	0
SLC18A1	6570	broad.mit.edu	37	8	20003354	20003354	+	Missense_Mutation	SNP	G	G	T	rs149404030		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:20003354G>T	ENST00000437980.1	-	16	1834	c.1364C>A	c.(1363-1365)cCg>cAg	p.P455Q	SLC18A1_ENST00000265808.7_Silent_p.R468R|SLC18A1_ENST00000519026.1_Silent_p.R468R|SLC18A1_ENST00000440926.1_Silent_p.R500R|SLC18A1_ENST00000381608.4_Missense_Mutation_p.P455Q|SLC18A1_ENST00000276373.5_Silent_p.R500R	NM_001142325.1	NP_001135797.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	245					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	p.R500R(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GCATACATCCGGGTCTCCATG	0.502000													11	51					6.42651e-13	9.67993e-13	0.010729	1	0
NLRP7	199713	broad.mit.edu	37	19	55447801	55447801	+	Splice_Site	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:55447801T>C	ENST00000446217.1	-	8	2616		c.e8-2		NLRP7_ENST00000448121.2_Splice_Site|NLRP7_ENST00000340844.2_Splice_Site|NLRP7_ENST00000592784.1_Splice_Site|NLRP7_ENST00000590030.1_Splice_Site|NLRP7_ENST00000328092.5_Splice_Site|NLRP7_ENST00000588756.1_Splice_Site			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7								ATP binding	p.?(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTTTTAATCCTAGGGAAAAGC	0.448000													10	23					0	0	0.013537	0	0
DNM1P34	729809	broad.mit.edu	37	15	75595021	75595021	+	RNA	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:75595021C>T	ENST00000567292.1	-	0	285																											ACGAAGGCATCAGGGCGGCCA	0.612000													3	10					0	0	0.004672	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776730	77776730	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:77776730G>T	ENST00000521891.2	+	11	11228	c.10780G>T	c.(10780-10782)Gtg>Ttg	p.V3594L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.V3549L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V3545L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V3568L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3545						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V3578L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCTTTGGAAGTGAAGGCTAA	0.448000										HNSCC(33;0.089)			9	46					0.00448238	0.00485144	0.004482	1	0
ENPP3	5169	broad.mit.edu	37	6	132054860	132054860	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:132054860C>T	ENST00000414305.1	+	22	2414	c.2086C>T	c.(2086-2088)Cct>Tct	p.P696S	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Missense_Mutation_p.P696S			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	696	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.P696S(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CCTCTATCCTCCTGGTTAGTA	0.458000													4	73					0	0	0.014758	0	0
RASGRF2	5924	broad.mit.edu	37	5	80369242	80369242	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:80369242C>T	ENST00000265080.4	+	5	925	c.858C>T	c.(856-858)caC>caT	p.H286H	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	286	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.H286H(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCATCAGCCACGACGACGTCA	0.463000													3	42					0	0	0.014758	0	0
TUFM	7284	broad.mit.edu	37	16	28856035	28856035	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:28856035G>A	ENST00000313511.3	-	5	806	c.668C>T	c.(667-669)gCt>gTt	p.A223V		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	220						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.A223V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						GGCACAGAGAGCAGAGCCTAC	0.607000													4	59					0	0	0.009096	0	0
NALCN	259232	broad.mit.edu	37	13	101833673	101833673	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:101833673G>C	ENST00000376196.3	-	15	1939	c.1780C>G	c.(1780-1782)Cgt>Ggt	p.R594G	NALCN_ENST00000251127.6_Intron|NALCN_ENST00000470333.1_5'UTR			Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1507						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGAGGTCACGGATAAGAGAG	0.483000													8	26					0	0	0.006214	0	0
BNC1	646	broad.mit.edu	37	15	83926469	83926469	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:83926469C>T	ENST00000345382.2	-	5	2795	c.2710G>A	c.(2710-2712)Gat>Aat	p.D904N	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.D897N	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	904					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D904N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGGTACTCATCTTCCCCAGGG	0.547000													34	205					0	0	0.019004	0	0
KCNC2	3747	broad.mit.edu	37	12	75601598	75601598	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:75601598G>C	ENST00000549446.1	-	2	846	c.166C>G	c.(166-168)Ccg>Gcg	p.P56A	KCNC2_ENST00000350228.2_Missense_Mutation_p.P56A|KCNC2_ENST00000548513.1_Missense_Mutation_p.P56A|KCNC2_ENST00000393288.2_Missense_Mutation_p.P56A|KCNC2_ENST00000550433.1_Missense_Mutation_p.P56A|KCNC2_ENST00000298972.1_Missense_Mutation_p.P56A|KCNC2_ENST00000341669.3_Missense_Mutation_p.P56A|KCNC2_ENST00000540018.1_Missense_Mutation_p.P56A	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	56	Gly/Pro-rich (insert).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P56A(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						ggcggcgacggctgcagcTTG	0.746000													3	11					0	0	0.009096	0	0
LEPREL2	10536	broad.mit.edu	37	12	6948210	6948210	+	RNA	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:6948210G>A	ENST00000251761.8	+	0	1985				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2									p.G466D(1)|p.G650D(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)	10						TTCAGCTCCGGTGTCGAGAAT	0.657000													20	25					0	0	0.008871	0	0
REV1	51455	broad.mit.edu	37	2	100038094	100038094	+	Silent	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:100038094A>G	ENST00000258428.3	-	11	1926	c.1698T>C	c.(1696-1698)gcT>gcC	p.A566A	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.A565A	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	566	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.A566A(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACAACTGACAGCTTCAATGT	0.428000								Direct reversal of damage					6	75					0	0	0.003080	0	0
OR7D4	125958	broad.mit.edu	37	19	9324917	9324917	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:9324917C>T	ENST00000308682.2	-	1	625	c.597G>A	c.(595-597)ttG>ttA	p.L199L		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L199L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGGCCACATACAAGACAATGT	0.522000													32	79					0	0	0.013726	0	0
PHACTR3	116154	broad.mit.edu	37	20	58349510	58349510	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:58349510A>T	ENST00000371015.1	+	7	1606	c.1139A>T	c.(1138-1140)cAg>cTg	p.Q380L	PHACTR3_ENST00000395636.2_Missense_Mutation_p.Q339L|PHACTR3_ENST00000395639.4_Missense_Mutation_p.Q269L|PHACTR3_ENST00000361300.4_Missense_Mutation_p.Q269L|PHACTR3_ENST00000541461.1_Missense_Mutation_p.Q339L|PHACTR3_ENST00000359926.3_Missense_Mutation_p.Q377L|PHACTR3_ENST00000355648.4_Missense_Mutation_p.Q339L	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	380						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.Q380L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CTTTTGTATCAGGACGAGGAG	0.507000													25	213					0	0	0.005443	0	0
ZNF318	24149	broad.mit.edu	37	6	43306991	43306991	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:43306991T>A	ENST00000361428.2	-	10	4822	c.4745A>T	c.(4744-4746)gAg>gTg	p.E1582V	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1582					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.E1582V(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCCTTAGTCTCAGGGGCCCC	0.468000													12	81					0	0	0.013537	0	0
A2M	2	broad.mit.edu	37	12	9225370	9225370	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:9225370G>A	ENST00000318602.7	-	30	4161	c.3854C>T	c.(3853-3855)aCa>aTa	p.T1285I		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1285					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.T1285I(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GCTGGAAAATGTCCCTGAAGA	0.517000													6	109					0	0	0.001168	0	0
LTBP1	4052	broad.mit.edu	37	2	33505174	33505174	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:33505174C>T	ENST00000404816.2	+	19	3414	c.3061C>T	c.(3061-3063)Cag>Tag	p.Q1021*	LTBP1_ENST00000390003.4_Nonsense_Mutation_p.Q696*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.Q642*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.Q695*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.Q1022*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.Q695*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.Q642*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1021	EGF-like 7; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.Q1022*(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGGATCTTACCAGTGCGTTCC	0.433000													24	45					0	0	0.004656	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413399	26413399	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:26413399G>T	ENST00000289361.6	+	10	1389	c.1021G>T	c.(1021-1023)Gat>Tat	p.D341Y	BTN3A1_ENST00000476549.2_3'UTR|BTN3A1_ENST00000414912.2_Missense_Mutation_p.D289Y	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	341	B30.2/SPRY.				lipid metabolic process	integral to membrane		p.D341Y(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTCTGCAGCGGATGTGATTCT	0.537000													23	85					1.85244e-09	2.62097e-09	0.018920	1	0
LPCAT1	79888	broad.mit.edu	37	5	1474683	1474683	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:1474683C>A	ENST00000283415.3	-	10	1149	c.1017G>T	c.(1015-1017)cgG>cgT	p.R339R		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	339					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	p.R339R(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ACCCGAGGCCCCGCACGAGCC	0.612000													9	22					1.12685e-05	1.37388e-05	0.004482	1	0
KSR2	283455	broad.mit.edu	37	12	118105377	118105377	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:118105377G>A	ENST00000425217.1	-	5	1040	c.986C>T	c.(985-987)cCg>cTg	p.P329L	KSR2_ENST00000339824.5_Missense_Mutation_p.P358L|KSR2_ENST00000302438.5_Missense_Mutation_p.P55L|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	358					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P390L(1)|p.P55L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGACAGCAGCGGGGAGCGCTG	0.582000													3	23					0	0	0.004672	0	0
AMELY	266	broad.mit.edu	37	Y	6736316	6736316	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrY:6736316G>T	ENST00000215479.5	-	5	402	c.335C>A	c.(334-336)cCa>cAa	p.P112Q	AMELY_ENST00000383037.4_Missense_Mutation_p.P126Q|AMELY_ENST00000383036.1_Missense_Mutation_p.P126Q	NM_001143.1	NP_001134.1	Q99218	AMELY_HUMAN	amelogenin, Y-linked	126	Gln-rich.				biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.P112Q(1)		NS(1)|lung(5)	6						GTGTTGGGTTGGAGTCATGGA	0.632000													21	21					1.2644e-06	1.61799e-06	0.010504	1	0
ITGA8	8516	broad.mit.edu	37	10	15649716	15649716	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:15649716T>A	ENST00000378076.3	-	17	2077	c.1724A>T	c.(1723-1725)cAg>cTg	p.Q575L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	575					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.Q575L(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTGGGATTTCTGCCTTTTTAT	0.438000													7	200					0	0	0.003080	0	0
NELL1	4745	broad.mit.edu	37	11	20949926	20949926	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:20949926G>A	ENST00000298925.5	+	10	1135	c.982G>A	c.(982-984)Ggt>Agt	p.G328S	NELL1_ENST00000325319.5_Missense_Mutation_p.G243S|NELL1_ENST00000532434.1_Missense_Mutation_p.G300S|NELL1_ENST00000357134.5_Missense_Mutation_p.G300S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	300	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.G300S(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCCTCAGAGTGGTGCCGTGGA	0.522000													19	48					0	0	0.014323	0	0
CLN5	1203	broad.mit.edu	37	13	77569228	77569228	+	Silent	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:77569228T>G	ENST00000377453.3	+	2	1643	c.351T>G	c.(349-351)ccT>ccG	p.P117P	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	68					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.P117P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AACCTGATCCTTATTGTCAAG	0.378000													6	78					0	0	0.001168	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525707	176525707	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:176525707C>A	ENST00000367662.3	+	2	1413	c.249C>A	c.(247-249)ccC>ccA	p.P83P	PAPPA2_ENST00000367661.3_Silent_p.P83P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	83					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P83P(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCCTACCCCGTGGGGGAGC	0.562000													74	151					1.52589e-26	2.59581e-26	0.014410	1	0
GGPS1	9453	broad.mit.edu	37	1	235505515	235505515	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:235505515G>T	ENST00000282841.5	+	4	563	c.331G>T	c.(331-333)Gca>Tca	p.A111S	GGPS1_ENST00000358966.2_Missense_Mutation_p.A111S|GGPS1_ENST00000488594.1_Missense_Mutation_p.A111S|GGPS1_ENST00000391855.2_Missense_Mutation_p.A57S|GGPS1_ENST00000476121.1_Missense_Mutation_p.A111S			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	111					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding	p.A111S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)			TCACCCAGATGCAGTGAAGCT	0.448000													10	41					0.00621372	0.00666545	0.006214	1	0
LRP1B	53353	broad.mit.edu	37	2	141607774	141607774	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:141607774G>A	ENST00000389484.3	-	29	5807	c.4836C>T	c.(4834-4836)gaC>gaT	p.D1612D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1612					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D1612D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGCATCGAAGTCTATCACAG	0.368000										TSP Lung(27;0.18)			7	108					0	0	0.001984	0	0
HEG1	57493	broad.mit.edu	37	3	124720857	124720857	+	Splice_Site	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:124720857C>A	ENST00000311127.4	-	11	3424		c.e11-1			NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1							extracellular region|integral to membrane	calcium ion binding	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTTGGACTCCCTATAGGCAAA	0.493000													7	23					8.12818e-05	9.43287e-05	0.001984	1	0
SFPQ	6421	broad.mit.edu	37	1	35652807	35652807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:35652807C>A	ENST00000357214.5	-	8	1959	c.1861G>T	c.(1861-1863)Gga>Tga	p.G621*		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	621					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding	p.G621*(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CACTTACCTCCCATGTTCATT	0.403000			T	TFE3	papillary renal cell								10	149					0.00829132	0.00885469	0.008291	1	0
THSD7B	80731	broad.mit.edu	37	2	137872775	137872775	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:137872775G>A	ENST00000409968.1	+	5	1459	c.1281G>A	c.(1279-1281)acG>acA	p.T427T	THSD7B_ENST00000413152.2_Silent_p.T396T|THSD7B_ENST00000272643.3_Silent_p.T427T|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B									p.T427T(2)|p.T396T(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGCATGTGACGGGACCCGTGT	0.577000													5	34					0	0	0.014758	0	0
MIP	4284	broad.mit.edu	37	12	56848062	56848062	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:56848062G>T	ENST00000257979.4	-	1	364	c.336C>A	c.(334-336)gtC>gtA	p.V112V	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	112					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	p.V112V(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GGTTTCCTCGGACAGCAGGTG	0.602000													8	64					0.00448238	0.00485144	0.004482	1	0
KIAA1009	22832	broad.mit.edu	37	6	84872875	84872875	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:84872875C>G	ENST00000403245.3	-	19	2614	c.2500G>C	c.(2500-2502)Gct>Cct	p.A834P	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.A758P	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	834					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	p.A834P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GTGACATAAGCAATCTGATCT	0.328000													28	62					0	0	0.012213	0	0
ANKRD44	91526	broad.mit.edu	37	2	197873684	197873684	+	Nonsense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:197873684T>A	ENST00000328737.2	-	19	1997	c.1921A>T	c.(1921-1923)Aaa>Taa	p.K641*	ANKRD44_ENST00000450567.1_Nonsense_Mutation_p.K641*|ANKRD44_ENST00000282272.8_Nonsense_Mutation_p.K658*|ANKRD44_ENST00000337207.5_Nonsense_Mutation_p.K641*			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	666							protein binding	p.K641*(1)|p.K481*(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGGCATCTTTCACATCGACC	0.448000													39	125					0	0	0.014410	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170326	107170326	+	RNA	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:107170326A>T	ENST00000390633.2	-	0	102																											CCTTACCTGTAGCTGCTGCCA	0.522000													17	81					0	0	0.006122	0	0
POM121L12	285877	broad.mit.edu	37	7	53103526	53103526	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:53103526C>A	ENST00000408890.4	+	1	178	c.162C>A	c.(160-162)ccC>ccA	p.P54P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	54								p.P54P(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GTCCCTGGCCCCTGAGGTCCC	0.701000													6	62					5.18039e-06	6.4134e-06	0.003080	1	0
MYO7B	4648	broad.mit.edu	37	2	128324254	128324254	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:128324254T>A	ENST00000389524.4	+	5	375	c.322T>A	c.(322-324)Ttc>Atc	p.F108I	MYO7B_ENST00000428314.1_Missense_Mutation_p.F108I|MYO7B_ENST00000409816.2_Missense_Mutation_p.F108I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	108	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.F108I(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGTCAACCCGTTCCAGGTGCT	0.627000													3	9					0	0	0.004672	0	0
OTOL1	131149	broad.mit.edu	37	3	161221370	161221370	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:161221370C>T	ENST00000327928.4	+	4	1074	c.1074C>T	c.(1072-1074)atC>atT	p.I358I		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	358	C1q.					collagen		p.P359S(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CTCCTAACATCCCCATCAAAT	0.473000													7	26					0	0	0.001984	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736249	12736249	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:12736249G>A	ENST00000380682.1	+	16	3810	c.3304G>A	c.(3304-3306)Gct>Act	p.A1102T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1102					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.A1092T(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGTGGGATGGCTGAAAAAAG	0.502000													34	77					0	0	0.015359	0	0
LAMB2	3913	broad.mit.edu	37	3	49168500	49168500	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:49168500G>C	ENST00000418109.1	-	8	962	c.798C>G	c.(796-798)atC>atG	p.I266M	LAMB2_ENST00000305544.4_Missense_Mutation_p.I266M	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	266	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.I266M(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTTCTCTCGGATCTCCCTCC	0.582000													5	75					0	0	0.003080	0	0
SF1	7536	broad.mit.edu	37	11	64536578	64536578	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:64536578G>A	ENST00000377390.3	-	8	1140	c.803C>T	c.(802-804)tCa>tTa	p.S268L	SF1_ENST00000227503.9_Missense_Mutation_p.S268L|SF1_ENST00000334944.5_Missense_Mutation_p.S268L|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.S393L|SF1_ENST00000433274.2_Missense_Mutation_p.S242L|SF1_ENST00000377394.3_Missense_Mutation_p.S268L|SF1_ENST00000422298.2_Missense_Mutation_p.S153L	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	268					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	p.S268L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCGGGTCTCTGAGCTCTGCCA	0.488000													29	119					0	0	0.007291	0	0
ASTL	431705	broad.mit.edu	37	2	96798292	96798292	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:96798292G>T	ENST00000342380.2	-	6	623	c.624C>A	c.(622-624)aaC>aaA	p.N208K		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	208					proteolysis		metalloendopeptidase activity|zinc ion binding	p.N208K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GCAGGATCTCGTTCCAGTTGA	0.662000													24	45					9.95505e-16	1.56128e-15	0.014323	1	0
SLAMF8	56833	broad.mit.edu	37	1	159799686	159799686	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:159799686A>T	ENST00000289707.5	+	2	220	c.71A>T	c.(70-72)cAa>cTa	p.Q24L	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	24						integral to membrane		p.Q24L(1)		endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					ACTGGTGCCCAAGTGCTGAGC	0.587000													68	127					0	0	0.014410	0	0
GPR158	57512	broad.mit.edu	37	10	25886839	25886839	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:25886839C>A	ENST00000376351.3	+	11	2643	c.2284C>A	c.(2284-2286)Cca>Aca	p.P762T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	762						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P762T(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TACGGAGATCCCAGAGACAGT	0.547000													16	114					3.52763e-06	4.40497e-06	0.004990	1	0
VPS16	64601	broad.mit.edu	37	20	2844701	2844701	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:2844701G>T	ENST00000380445.3	+	16	1655	c.1583G>T	c.(1582-1584)gGt>gTt	p.G528V	VPS16_ENST00000380469.3_Missense_Mutation_p.G384V|VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380443.3_Missense_Mutation_p.G214V	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	528					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		p.G528V(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CGAGCCTATGGTTGTGGCCGC	0.587000													9	72					6.81908e-15	1.06254e-14	0.020292	1	0
CSMD1	64478	broad.mit.edu	37	8	2949081	2949081	+	Silent	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:2949081A>T	ENST00000602557.1	-	49	7800	c.7245T>A	c.(7243-7245)acT>acA	p.T2415T	CSMD1_ENST00000520002.1_Silent_p.T2415T|CSMD1_ENST00000400186.3_Silent_p.T2415T|CSMD1_ENST00000542608.1_Silent_p.T2414T|CSMD1_ENST00000537824.1_Silent_p.T2414T|CSMD1_ENST00000602723.1_Silent_p.T2415T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2415	CUB 14.					integral to membrane		p.T2414T(1)|p.T2143T(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGCATGGTCAGTGGACCAGC	0.373000													4	14					0	0	0.009096	0	0
PCLO	27445	broad.mit.edu	37	7	82582364	82582364	+	Silent	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:82582364T>C	ENST00000423517.2	-	5	8242	c.7905A>G	c.(7903-7905)tcA>tcG	p.S2635S	PCLO_ENST00000333891.8_Silent_p.S2635S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2566					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S2635S(4)|p.S2566S(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGTCTGTTCTGAAGAAATTG	0.463000													15	94					0	0	0.003163	0	0
OR2B11	127623	broad.mit.edu	37	1	247614592	247614592	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:247614592C>A	ENST00000318749.6	-	1	716	c.693G>T	c.(691-693)agG>agT	p.R231S		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231S(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGGACTGGATCCTGAGCACTG	0.547000													22	81					7.41877e-09	1.02951e-08	0.012319	1	0
TTN	7273	broad.mit.edu	37	2	179434300	179434300	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:179434300A>T	ENST00000589042.1	-	326	76783	c.76559T>A	c.(76558-76560)aTa>aAa	p.I25520K	TTN_ENST00000460472.2_Missense_Mutation_p.I16455K|TTN_ENST00000342175.6_Missense_Mutation_p.I16647K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I16580K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I23879K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I22952K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23879	Fibronectin type-III 85.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I22952N(1)|p.I16647N(1)|p.I16580N(1)|p.I22950N(1)|p.I16455N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTATATTTATGATTTTCCT	0.413000													5	29					0	0	0.014758	0	0
NLRP3	114548	broad.mit.edu	37	1	247587738	247587738	+	Silent	SNP	C	C	T	rs104895401		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:247587738C>T	ENST00000366497.2	+	4	1773	c.993C>T	c.(991-993)ctC>ctT	p.L331L	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.L331L|NLRP3_ENST00000348069.2_Silent_p.L331L|NLRP3_ENST00000366496.2_Silent_p.L331L|NLRP3_ENST00000391828.3_Silent_p.L331L|NLRP3_ENST00000336119.3_Silent_p.L331L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	331	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L331L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAGACATTCTCCTGAGCAGCC	0.582000													22	63					0	0	0.012319	0	0
DNAH9	1770	broad.mit.edu	37	17	11584038	11584038	+	Splice_Site	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:11584038A>G	ENST00000262442.3	+	19	3644		c.e19-1		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.?(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTCCTTTGCAGGAGCTGCCT	0.522000													3	15					0	0	0.009096	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744720	140744720	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:140744720G>A	ENST00000518069.1	+	1	823	c.823G>A	c.(823-825)Ggg>Agg	p.G275R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.G275R(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAATAAACGGGAAATTGAC	0.478000													6	34					0	0	0.001168	0	0
PRSS55	203074	broad.mit.edu	37	8	10387192	10387192	+	Silent	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:10387192A>G	ENST00000328655.3	+	2	370	c.330A>G	c.(328-330)ttA>ttG	p.L110L	PRSS55_ENST00000522210.1_Silent_p.L110L|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	110	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.L110L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CTCACTGCTTATATTCCGAGG	0.592000													68	174					0	0	0.014410	0	0
OR6K6	128371	broad.mit.edu	37	1	158724939	158724939	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:158724939T>A	ENST00000368144.2	+	1	430	c.334T>A	c.(334-336)Tgc>Agc	p.C112S		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C112S(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GATGCTGTCCTGCCTAATCAG	0.517000													5	120					0	0	0.001168	0	0
APTX	54840	broad.mit.edu	37	9	32973624	32973624	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:32973624C>G	ENST00000379817.2	-	7	1097	c.901G>C	c.(901-903)Ggt>Cgt	p.G301R	APTX_ENST00000436040.2_3'UTR|APTX_ENST00000379813.3_Missense_Mutation_p.G301R|APTX_ENST00000463596.1_Missense_Mutation_p.G301R|APTX_ENST00000379819.1_Missense_Mutation_p.G315R|APTX_ENST00000468275.1_Missense_Mutation_p.G301R|APTX_ENST00000476858.1_Missense_Mutation_p.G261R|APTX_ENST00000397172.3_Missense_Mutation_p.G243R|APTX_ENST00000309615.3_3'UTR|APTX_ENST00000379825.2_3'UTR			Q7Z2E3	APTX_HUMAN	aprataxin	315					cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding	p.G301R(1)		endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GTTACTCTACCAGCCTCTTGT	0.468000								Editing and processing nucleases					6	42					0	0	0.006214	0	0
MGAM	8972	broad.mit.edu	37	7	141767216	141767216	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:141767216C>T	ENST00000475668.2	+	42	5049	c.4995C>T	c.(4993-4995)gtC>gtT	p.V1665V	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1665	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCAGCCCTGTCCTGGAGCGCG	0.602000													16	52					0	0	0.004990	0	0
BAI3	577	broad.mit.edu	37	6	70034899	70034899	+	Silent	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:70034899T>C	ENST00000370598.1	+	21	3771	c.2950T>C	c.(2950-2952)Ttg>Ctg	p.L984L	BAI3_ENST00000238918.8_Silent_p.L190L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	984					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L984L(1)		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)				AAAACGCTTTTTGTGCCTTGG	0.403000													8	47					0	0	0.006214	0	0
ZIC4	84107	broad.mit.edu	37	3	147120537	147120537	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:147120537G>T	ENST00000383075.3	-	2	560	c.48C>A	c.(46-48)taC>taA	p.Y16*	ZIC4_ENST00000425731.3_Nonsense_Mutation_p.Y54*|ZIC4_ENST00000484399.1_Nonsense_Mutation_p.Y16*|ZIC4_ENST00000525172.2_Nonsense_Mutation_p.Y66*|ZIC4_ENST00000473123.1_Nonsense_Mutation_p.Y16*|ZIC4_ENST00000491672.1_Nonsense_Mutation_p.Y16*	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	16						nucleus	DNA binding|zinc ion binding	p.Y16*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GAGTGTTTCGGTAAAGCCGTA	0.353000													12	84					3.27435e-08	4.44992e-08	0.020292	1	0
CORO1A	11151	broad.mit.edu	37	16	30199766	30199766	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:30199766G>A	ENST00000219150.5	+	10	1455	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	CORO1A_ENST00000570045.1_Missense_Mutation_p.D384N|CORO1A_ENST00000565497.1_Intron	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	384					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	p.D384N(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GGGGGGTCGGGATGCTGGGCC	0.697000													12	79					0	0	0.010729	0	0
CREB3L3	84699	broad.mit.edu	37	19	4157097	4157097	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:4157097G>A	ENST00000078445.2	+	3	409	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	CREB3L3_ENST00000602257.1_Missense_Mutation_p.G88S|CREB3L3_ENST00000595923.1_Missense_Mutation_p.G87S|CREB3L3_ENST00000252587.3_Missense_Mutation_p.G78S|CREB3L3_ENST00000602147.1_Missense_Mutation_p.G88S	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	88					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G88C(1)|p.G88S(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGATAGTGGCATCTCCGA	0.677000													8	55					0	0	0.003080	0	0
PTPRT	11122	broad.mit.edu	37	20	41101140	41101140	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:41101140G>T	ENST00000373198.3	-	8	1451	c.1216C>A	c.(1216-1218)Cag>Aag	p.Q406K	PTPRT_ENST00000373190.1_Missense_Mutation_p.Q406K|PTPRT_ENST00000356100.2_Missense_Mutation_p.Q406K|PTPRT_ENST00000373201.1_Missense_Mutation_p.Q406K|PTPRT_ENST00000373193.3_Missense_Mutation_p.Q406K|PTPRT_ENST00000373187.1_Missense_Mutation_p.Q406K|PTPRT_ENST00000373184.1_Missense_Mutation_p.Q406K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	406	Fibronectin type-III 2.				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	p.Q406K(1)		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)				GGCTCCCACTGCAGGGTCAGC	0.567000													5	37					1.23904e-05	1.50055e-05	0.014758	1	0
SYVN1	84447	broad.mit.edu	37	11	64899785	64899785	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:64899785G>A	ENST00000526060.1	-	6	657	c.465C>T	c.(463-465)ttC>ttT	p.F155F	SYVN1_ENST00000294256.8_Silent_p.F155F|SYVN1_ENST00000307289.6_Intron|SYVN1_ENST00000377190.3_Silent_p.F155F|SYVN1_ENST00000526121.1_5'UTR			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	155					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.F155F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CGTGGCTGACGAAGAGGAAGT	0.592000													20	55					0	0	0.012319	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140811758	140811758	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:140811758G>C	ENST00000252085.3	+	1	1574	c.1432G>C	c.(1432-1434)Gac>Cac	p.D478H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1												p.D478H(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCGCCCACGACCCCGACTG	0.567000													4	40					0	0	0.009096	0	0
NME8	51314	broad.mit.edu	37	7	37927904	37927904	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:37927904A>G	ENST00000199447.4	+	15	1645	c.1273A>G	c.(1273-1275)Agt>Ggt	p.S425G	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.S425G	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	425	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.S425G(1)									TGCGATGGACAGTTTGCCGGT	0.363000													3	37					0	0	0.004672	0	0
LRRC18	474354	broad.mit.edu	37	10	50121546	50121546	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:50121546C>T	ENST00000374160.3	-	1	731	c.655G>A	c.(655-657)Gac>Aac	p.D219N	LRRC18_ENST00000298124.3_Missense_Mutation_p.D219N|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	219						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTCAGGTTGTCCCGGGCGTTT	0.498000													5	136					0	0	0.014758	0	0
FMNL1	752	broad.mit.edu	37	17	43323889	43323889	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:43323889T>G	ENST00000331495.3	+	26	3565	c.3229T>G	c.(3229-3231)Ttc>Gtc	p.F1077V	FMNL1_ENST00000328118.3_Intron|FMNL1_ENST00000587489.1_Intron|CTD-2020K17.4_ENST00000420431.2_RNA	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	1077	DAD.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.F1077V(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GACGGTGCCCTTCACGGCCCG	0.587000											OREG0024478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	45					0	0	0.014758	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764453	77764453	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:77764453G>A	ENST00000521891.2	+	10	5744	c.5296G>A	c.(5296-5298)Ggc>Agc	p.G1766S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G1721S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G1721S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G1740S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1721	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1766S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGGATGCCTGGCATGACAGG	0.498000										HNSCC(33;0.089)			4	36					0	0	0.014758	0	0
TM2D1	83941	broad.mit.edu	37	1	62175007	62175007	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:62175007C>T	ENST00000371177.2	-	3	353	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	TM2D1_ENST00000294613.5_Missense_Mutation_p.R114Q|TM2D1_ENST00000371180.2_Missense_Mutation_p.R176Q|TM2D1_ENST00000606498.1_Missense_Mutation_p.R114Q|TM2D1_ENST00000472989.1_5'UTR			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	114					apoptosis			p.R176Q(1)|p.R114Q(1)|p.R176L(1)		large_intestine(2)|lung(3)|ovary(1)	6						TTACACATTTCGGCAAGATAT	0.363000													5	38					0	0	0.001168	0	0
SPAG11A	653423	broad.mit.edu	37	8	7717882	7717882	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:7717882C>G	ENST00000434307.2	+	3	395	c.228C>G	c.(226-228)caC>caG	p.H76Q	SPAG11A_ENST00000351436.4_Intron|SPAG11A_ENST00000326558.5_Intron|SPAG11A_ENST00000326625.5_Intron|SPAG11A_ENST00000454911.2_Missense_Mutation_p.H23Q					sperm associated antigen 11A											central_nervous_system(1)|lung(2)	3				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		ACATCTCTCACCAGGAGGCTC	0.473000													12	8					0	0	0.013537	0	0
TRPC7	57113	broad.mit.edu	37	5	135692748	135692748	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:135692748G>T	ENST00000513104.1	-	2	610	c.328C>A	c.(328-330)Ctg>Atg	p.L110M	TRPC7_ENST00000426057.2_Missense_Mutation_p.L110M|TRPC7_ENST00000355180.3_Missense_Mutation_p.L110M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	110					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.L110M(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCAGCAGCAGCGCGTCCCCC	0.672000													12	38					1.08611e-07	1.4382e-07	0.010729	1	0
BCR	613	broad.mit.edu	37	22	23627343	23627343	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr22:23627343G>C	ENST00000305877.8	+	10	3112	c.2361G>C	c.(2359-2361)ttG>ttC	p.L787F	BCR_ENST00000359540.3_Missense_Mutation_p.L787F	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	787	PH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.L787F(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TGGACGCTTTGAAGATCAAGA	0.562000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								9	24					0	0	0.004482	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380882	28380882	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:28380882G>T	ENST00000394835.3	+	10	2102	c.1910G>T	c.(1909-1911)gGa>gTa	p.G637V	EFCAB5_ENST00000378738.3_Missense_Mutation_p.G637V|EFCAB5_ENST00000536908.2_Missense_Mutation_p.G581V|EFCAB5_ENST00000320856.5_Missense_Mutation_p.G637V|EFCAB5_ENST00000541045.1_Missense_Mutation_p.G294V|EFCAB5_ENST00000394832.2_Missense_Mutation_p.G637V	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	637							calcium ion binding	p.G637V(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCAGAACAGGGATCACTCAGA	0.443000													6	98					3.59834e-05	4.27192e-05	0.001168	1	0
XKR6	286046	broad.mit.edu	37	8	10756197	10756197	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:10756197C>A	ENST00000416569.2	-	3	1217	c.1191G>T	c.(1189-1191)atG>atT	p.M397I	XKR6_ENST00000304437.2_Missense_Mutation_p.M118I	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	397						integral to membrane		p.M397I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TCCAGAAGGCCATGGCGCACC	0.512000													11	36					1.58986e-06	2.02016e-06	0.008291	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938104	29938104	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:29938104T>A	ENST00000378993.1	+	8	1623	c.950T>A	c.(949-951)aTc>aAc	p.I317N	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.I317N	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	317	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.I317N(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GAAGTTTCCATCTCATTAATT	0.393000													19	61					0	0	0.012319	0	0
FLG2	388698	broad.mit.edu	37	1	152326607	152326607	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:152326607C>A	ENST00000388718.5	-	3	3727	c.3655G>T	c.(3655-3657)Ggc>Tgc	p.G1219C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1219	Ser-rich.						calcium ion binding|structural molecule activity	p.L1218_G1219>FC(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCCTGGCCCAAGCCAGTT	0.458000													53	147					3.07002e-29	5.28481e-29	0.014410	1	0
C15orf38	348110	broad.mit.edu	37	15	90447054	90447054	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:90447054C>A	ENST00000357484.5	-	4	583	c.463G>T	c.(463-465)Ggg>Tgg	p.G155W	C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.G155W|C15orf38_ENST00000460685.1_Missense_Mutation_p.G59W	NM_182616.2	NP_872422.1			chromosome 15 open reading frame 38									p.G155W(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			ACCCCGGCCCCCAGCTCGAGT	0.642000													12	77					2.27111e-07	2.98006e-07	0.013537	1	0
ARHGEF5	7984	broad.mit.edu	37	7	144060384	144060384	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:144060384G>A	ENST00000056217.5	+	2	796	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	208					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.E208K(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGGCAGGGGGAAGAGCTGCC	0.542000													32	302					0	0	0.015359	0	0
MICU3	286097	broad.mit.edu	37	8	16948092	16948092	+	Splice_Site	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:16948092G>T	ENST00000318063.5	+	8	929	c.888_splice	c.e8+1	p.S296_splice		NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3									p.S296I(1)									CCTACTAATAGTGTATGTACA	0.328000													17	81					1.15088e-07	1.5184e-07	0.004007	1	0
HMMR	3161	broad.mit.edu	37	5	162918138	162918138	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:162918138G>T	ENST00000416990.2	+	18	2298	c.1801G>T	c.(1801-1803)Gct>Tct	p.A601S	HMMR_ENST00000432118.2_Missense_Mutation_p.A629S|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000358715.3_Missense_Mutation_p.A715S|HMMR_ENST00000353866.3_Missense_Mutation_p.A700S|HMMR_ENST00000393915.4_Missense_Mutation_p.A716S			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	715						cell surface|cytoplasm	hyaluronic acid binding	p.A715S(1)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		CTGTTACCGAGCTCCTATGGA	0.313000													14	42					1.52009e-12	2.28014e-12	0.003163	1	0
PDZD2	23037	broad.mit.edu	37	5	32037441	32037441	+	Silent	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:32037441C>G	ENST00000438447.1	+	7	1900	c.1512C>G	c.(1510-1512)cgC>cgG	p.R504R	PDZD2_ENST00000282493.3_Silent_p.R504R			O15018	PDZD2_HUMAN	PDZ domain containing 2	504					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.R504R(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCAAGAGTCGCCTTTCAGGTA	0.542000													23	19					0	0	0.016522	0	0
PSG7	5676	broad.mit.edu	37	19	43430607	43430607	+	RNA	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:43430607A>G	ENST00000406070.2	-	0	1067				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				ATTCAGGGTGACTGGGTCACT	0.507000													18	213					0	0	0.014323	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883228	19883228	+	Missense_Mutation	SNP	T	T	A	rs145563587	byFrequency	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:19883228T>A	ENST00000300571.2	-	2	1131	c.940A>T	c.(940-942)Agg>Tgg	p.R314W	GPRC5B_ENST00000569847.1_Missense_Mutation_p.R314W|GPRC5B_ENST00000569479.1_Missense_Mutation_p.R314W|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R340W|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R314W	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	314								p.R314W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCCCGCATCCTGGGCTGCGAC	0.597000													35	38					0	0	0.013726	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146805426	146805426	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:146805426C>A	ENST00000361727.3	+	5	1254	c.738C>A	c.(736-738)gtC>gtA	p.V246V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	246	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.V246V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAAGCTGGTCCTCAGTTTAA	0.398000										HNSCC(39;0.1)			4	11					1.23904e-05	1.50055e-05	0.014758	1	0
ADRA2B	151	broad.mit.edu	37	2	96781457	96781457	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:96781457C>A	ENST00000409345.3	-	1	527	c.432G>T	c.(430-432)tcG>tcT	p.S144S		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	144					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	p.S144S(4)		endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGGGCGGCAGCGAGATGACGG	0.682000													16	29					0.000422831	0.000476179	0.004007	1	0
ANP32E	81611	broad.mit.edu	37	1	150199078	150199078	+	Missense_Mutation	SNP	C	C	G	rs144321821		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:150199078C>G	ENST00000533654.1	-	4	545	c.377G>C	c.(376-378)cGg>cCg	p.R126P	ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369116.4_Silent_p.P49P|ANP32E_ENST00000314136.8_Silent_p.P181P|ANP32E_ENST00000436748.2_Silent_p.P140P|ANP32E_ENST00000369119.3_Silent_p.P133P|ANP32E_ENST00000369115.2_Silent_p.P49P			Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	0	LRRCT.					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity	p.P181P(1)		breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			cATATCCTTCCGGTGGACCAG	0.438000													16	43					0	0	0.004007	0	0
BDH2	56898	broad.mit.edu	37	4	104004086	104004086	+	Splice_Site	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:104004086C>A	ENST00000296424.4	-	8	653	c.532_splice	c.e8-1	p.G178_splice		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	178					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	p.G178V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		ATCAACTGTTCCTAAATCAAA	0.343000													44	73					7.90463e-13	1.18816e-12	0.014410	1	0
TTN	7273	broad.mit.edu	37	2	179567367	179567367	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:179567367G>T	ENST00000589042.1	-	107	30471	c.30247C>A	c.(30247-30249)Cgc>Agc	p.R10083S	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R9766S|TTN_ENST00000342992.6_Missense_Mutation_p.R8839S|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9766	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R8839S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGTATGCGCTTTGTAAAC	0.393000													4	54					2.56e-06	3.21892e-06	0.009096	1	0
THSD7A	221981	broad.mit.edu	37	7	11441426	11441426	+	Silent	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:11441426A>G	ENST00000423059.3	-	23	4658	c.4407T>C	c.(4405-4407)tgT>tgC	p.C1469C	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1469	TSP type-1 15.					integral to membrane		p.C1469C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACTCACCATAACATGATTTTG	0.378000										HNSCC(18;0.044)			6	62					0	0	0.003080	0	0
LCT	3938	broad.mit.edu	37	2	136570111	136570111	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:136570111C>A	ENST00000264162.2	-	7	2133	c.2123G>T	c.(2122-2124)gGc>gTc	p.G708V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	708	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.G708V(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGGGAGAAGCCTCCAATGGT	0.542000													10	70					1.76689e-08	2.41487e-08	0.006214	1	0
IL18RAP	8807	broad.mit.edu	37	2	103068613	103068613	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:103068613G>A	ENST00000264260.2	+	12	2361	c.1772G>A	c.(1771-1773)gGg>gAg	p.G591E	IL18RAP_ENST00000409369.1_Missense_Mutation_p.G449E	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	591					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.G591E(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GAAACCACTGGGAGGAGCTCC	0.512000													23	141					0	0	0.016522	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776592	77776592	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:77776592C>A	ENST00000521891.2	+	11	11090	c.10642C>A	c.(10642-10644)Ctt>Att	p.L3548I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L3503I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L3499I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L3522I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3499						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L3532I(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCTCCTTCCCTTTCCTTGCC	0.498000										HNSCC(33;0.089)			12	113					7.03913e-09	9.80595e-09	0.013537	1	0
HNRNPM	4670	broad.mit.edu	37	19	8527445	8527445	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:8527445G>A	ENST00000348943.3	+	3	548	c.316G>A	c.(316-318)Gac>Aac	p.D106N	HNRNPM_ENST00000325495.4_Missense_Mutation_p.D106N	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	106	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	p.D106N(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GCTCTTAATGGACGCTGAAGG	0.398000													61	165					0	0	0.014410	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518831	113518831	+	Silent	SNP	C	C	A	rs34610491	byFrequency	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:113518831C>A	ENST00000284601.3	-	4	2384	c.2316G>T	c.(2314-2316)gcG>gcT	p.A772A		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	772					glycogen metabolic process	integral to membrane		p.A772A(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTGGATCAAACGCTGTTTCCT	0.408000													4	69					0.000602214	0.000669848	0.014758	1	0
COL21A1	81578	broad.mit.edu	37	6	56035886	56035886	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:56035886A>T	ENST00000244728.5	-	4	1078	c.681T>A	c.(679-681)gaT>gaA	p.D227E	COL21A1_ENST00000370819.1_Missense_Mutation_p.D227E|COL21A1_ENST00000535941.1_Missense_Mutation_p.D227E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	227					cell adhesion	collagen|cytoplasm	structural molecule activity	p.D227E(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATCCCCTTTCATCACGAGCTG	0.308000													5	12					0	0	0.001984	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378648	31378648	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:31378648G>T	ENST00000297142.3	-	2	557	c.235C>A	c.(235-237)Ctt>Att	p.L79I		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	79					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L79I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TTTTTCCTAAGACCCCTCCTT	0.502000													8	232					7.48243e-07	9.60887e-07	0.006214	1	0
FNIP1	96459	broad.mit.edu	37	5	131007483	131007483	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:131007483C>A	ENST00000307968.7	-	13	2569	c.2570G>T	c.(2569-2571)tGt>tTt	p.C857F	FNIP1_ENST00000307954.8_Missense_Mutation_p.C840F|FNIP1_ENST00000510461.1_Missense_Mutation_p.C885F|FNIP1_ENST00000514667.1_Intron	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1									p.C885F(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TATACATTTACAAAATTCATT	0.348000													3	33					0.004672	0.00502657	0.004672	1	0
SSPO	23145	broad.mit.edu	37	7	149492318	149492318	+	RNA	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:149492318G>T	ENST00000378016.2	+	0	6207							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATTCTCCCCTGGGGCTGGCCG	0.672000													16	50					9.16793e-09	1.26738e-08	0.004990	1	0
DUS2	54920	broad.mit.edu	37	16	68104916	68104916	+	Missense_Mutation	SNP	G	G	T	rs150098325		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:68104916G>T	ENST00000565263.1	+	12	1209	c.715G>T	c.(715-717)Gtg>Ttg	p.V239L	DUS2L_ENST00000358896.6_Missense_Mutation_p.V239L|DUS2L_ENST00000432752.1_Missense_Mutation_p.V204L	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		239					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	p.V239L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		AGCCTCTTCCGTGATGGTGGC	0.542000													16	63					8.28177e-16	1.30451e-15	0.007413	1	0
FER1L6	654463	broad.mit.edu	37	8	125072897	125072897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:125072897C>T	ENST00000522917.1	+	24	3300	c.3094C>T	c.(3094-3096)Cag>Tag	p.Q1032*	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.Q1032*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1032						integral to membrane		p.Q1032*(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTGCGTGATCCAGAGCTACAA	0.547000													11	100					0	0	0.013537	0	0
AMPH	273	broad.mit.edu	37	7	38462075	38462075	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:38462075G>T	ENST00000356264.2	-	16	1433	c.1218C>A	c.(1216-1218)ccC>ccA	p.P406P	AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000325590.5_Silent_p.P406P|AMPH_ENST00000428293.2_Silent_p.P406P	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	406					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AAGTATCCTGGGGCTGAAAAT	0.353000													5	195					0.014758	0.0154191	0.014758	1	0
CRISPLD2	83716	broad.mit.edu	37	16	84914128	84914128	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:84914128G>C	ENST00000262424.5	+	13	1467	c.1243G>C	c.(1243-1245)Gca>Cca	p.A415P	CRISPLD2_ENST00000564567.1_Missense_Mutation_p.A415P|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.A414P	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	415	LCCL 2.					extracellular region|transport vesicle		p.A415P(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CCATTGTCCGGCACACTGCAA	0.433000													37	147					0	0	0.008740	0	0
PRKD1	5587	broad.mit.edu	37	14	30135337	30135337	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:30135337C>T	ENST00000331968.5	-	3	710	c.481G>A	c.(481-483)Gat>Aat	p.D161N	PRKD1_ENST00000415220.2_Missense_Mutation_p.D161N	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	161					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.D161N(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCACAGTGATCACAGAAAGCT	0.433000													13	88					0	0	0.004007	0	0
COL6A3	1293	broad.mit.edu	37	2	238274647	238274647	+	Silent	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:238274647A>G	ENST00000295550.4	-	12	5984	c.5532T>C	c.(5530-5532)gaT>gaC	p.D1844D	COL6A3_ENST00000346358.4_Silent_p.D1644D|COL6A3_ENST00000472056.1_Silent_p.D1237D|COL6A3_ENST00000409809.1_Silent_p.D1638D|COL6A3_ENST00000347401.3_Silent_p.D1643D|COL6A3_ENST00000353578.4_Silent_p.D1638D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1844	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.D1844D(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCTAGAACCATCAAACCCCA	0.502000													22	89					0	0	0.016522	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361447	70361447	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:70361447C>T	ENST00000305107.6	-	1	179	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.E45K|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	45					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E45K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TGGACAAGTTCATCCAGGATT	0.448000													24	84					0	0	0.005443	0	0
GABRG2	2566	broad.mit.edu	37	5	161524813	161524813	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:161524813C>A	ENST00000356592.3	+	4	957	c.497C>A	c.(496-498)cCc>cAc	p.P166H	GABRG2_ENST00000361925.4_Missense_Mutation_p.P166H|GABRG2_ENST00000393933.4_Missense_Mutation_p.P71H|GABRG2_ENST00000414552.2_Missense_Mutation_p.P166H	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	166					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.P166H(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATCACCACCCCCAACAGGATG	0.423000													9	29					2.17888e-05	2.61682e-05	0.006214	1	0
ZNF121	7675	broad.mit.edu	37	19	9677032	9677032	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:9677032C>A	ENST00000586602.1	-	6	1173	c.757G>T	c.(757-759)Gag>Tag	p.E253*	ZNF121_ENST00000320451.6_Nonsense_Mutation_p.E253*			P58317	ZN121_HUMAN	zinc finger protein 121	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E253*(1)|p.E253Q(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						AAGGGCTTCTCCTCTGTGTGA	0.373000													10	74					0.000442599	0.000496893	0.006214	1	0
CTNNA3	29119	broad.mit.edu	37	10	69299427	69299427	+	Splice_Site	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:69299427C>A	ENST00000433211.1	-	4	467	c.292_splice	c.e4-1	p.S98_splice	CTNNA3_ENST00000373744.4_Splice_Site_p.S98_splice|CTNNA3_ENST00000545309.1_Splice_Site_p.S98_splice	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	98					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.S98I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAGAGCTTCACCTGAAAAATA	0.418000													16	33					3.45872e-05	4.12649e-05	0.004007	1	0
SHQ1	55164	broad.mit.edu	37	3	72799747	72799747	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:72799747A>T	ENST00000325599.8	-	11	1561	c.1422T>A	c.(1420-1422)gaT>gaA	p.D474E	SHQ1_ENST00000463369.1_Missense_Mutation_p.D446E|SHQ1_ENST00000468371.1_5'UTR	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	474	Ser-rich.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	p.D474E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CTTGTTCTGAATCTGAGCCTG	0.473000													16	41					0	0	0.004007	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100564722	100564722	+	RNA	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:100564722T>A	ENST00000397112.4	-	0	591					NR_036632.1															large_intestine(1)|lung(3)	4						CACCTGTAACTGCTCCCTTAG	0.478000													15	82					0	0	0.010504	0	0
PRDM14	63978	broad.mit.edu	37	8	70964509	70964509	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:70964509G>A	ENST00000276594.2	-	8	1720	c.1519C>T	c.(1519-1521)Cac>Tac	p.H507Y		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H507Y(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TGCCTGATGTGTGTGCGGAGT	0.488000													13	206					0	0	0.003163	0	0
GABRA5	2558	broad.mit.edu	37	15	27182439	27182439	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:27182439C>A	ENST00000335625.5	+	8	1576	c.688C>A	c.(688-690)Cag>Aag	p.Q230K	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.Q230K|GABRA5_ENST00000400081.3_Missense_Mutation_p.Q230K	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	230					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.Q230K(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCTGATGGGGCAGACGGTGGG	0.607000													3	22					0.00909568	0.00960026	0.009096	1	0
GPA33	10223	broad.mit.edu	37	1	167032937	167032937	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:167032937C>A	ENST00000367868.3	-	4	796	c.453G>T	c.(451-453)gaG>gaT	p.E151D	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	151	Ig-like C2-type.					integral to plasma membrane	receptor activity	p.E151D(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CAATTATGGTCTCTCCCTCGA	0.542000													13	181					0.000422831	0.000476179	0.004007	1	0
C2orf48	348738	broad.mit.edu	37	2	10282453	10282453	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:10282453G>C	ENST00000381786.3	+	3	433	c.144G>C	c.(142-144)agG>agC	p.R48S		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	48								p.R48S(1)		endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		tgcgtgtcaggtgttactcgg	0.557000													32	249					0	0	0.017118	0	0
MED1	5469	broad.mit.edu	37	17	37566045	37566045	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:37566045G>T	ENST00000300651.6	-	17	2652	c.2429C>A	c.(2428-2430)tCt>tAt	p.S810Y	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	810	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.S810Y(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AGAGCTTGAAGAATCTCGAAG	0.433000										HNSCC(31;0.082)			16	128					3.45872e-05	4.12649e-05	0.004007	1	0
PEG3	5178	broad.mit.edu	37	19	57327451	57327451	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:57327451C>T	ENST00000326441.9	-	10	2722	c.2359G>A	c.(2359-2361)Gct>Act	p.A787T	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A787T|PEG3_ENST00000598410.1_Missense_Mutation_p.A663T|PEG3_ENST00000593695.1_Missense_Mutation_p.A661T|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	787					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A787T(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTTTCTGAGCTTCCACAGAG	0.438000													65	203					0	0	0.014410	0	0
GML	2765	broad.mit.edu	37	8	143927822	143927822	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:143927822C>T	ENST00000220940.1	+	4	283	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	65	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.R65C(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CATAAATTCTCGTGAACTACT	0.343000													20	47					0	0	0.007413	0	0
OR1S2	219958	broad.mit.edu	37	11	57970677	57970677	+	Nonstop_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:57970677C>G	ENST00000302592.6	-	1	976	c.977G>C	c.(976-978)tGa>tCa	p.*326S		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.*326S(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TCCAGGGCATCAAAGGGAAGA	0.408000													27	115					0	0	0.005443	0	0
MPO	4353	broad.mit.edu	37	17	56355387	56355387	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:56355387G>A	ENST00000340482.3	-	6	1277	c.1101C>T	c.(1099-1101)tcC>tcT	p.S367S	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000225275.3_Silent_p.S335S			P05164	PERM_HUMAN	myeloperoxidase	335					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	p.S335S(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CGTCCACGAAGGAAGTGAGCG	0.637000													11	76					0	0	0.008291	0	0
RIF1	55183	broad.mit.edu	37	2	152318785	152318785	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:152318785T>G	ENST00000243326.4	+	27	3740	c.3257T>G	c.(3256-3258)cTg>cGg	p.L1086R	RIF1_ENST00000430328.2_Missense_Mutation_p.L1086R|RIF1_ENST00000428287.2_Missense_Mutation_p.L1086R|RIF1_ENST00000444746.2_Missense_Mutation_p.L1086R|RIF1_ENST00000453091.2_Missense_Mutation_p.L1086R			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1086					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATAATAATCTGGATGTTTCC	0.299000													5	40					0	0	0.001984	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43625036	43625036	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:43625036C>A	ENST00000332857.6	-	4	3679	c.3651G>T	c.(3649-3651)atG>atT	p.M1217I		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.M1217I(1)									GGCAAAGTGACATTTTCTTGT	0.483000													75	221					2.9056e-39	5.08657e-39	0.014410	1	0
HEPH	9843	broad.mit.edu	37	X	65413396	65413396	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:65413396T>A	ENST00000519389.1	+	8	1626	c.1447T>A	c.(1447-1449)Tgg>Agg	p.W483R	HEPH_ENST00000343002.2_Missense_Mutation_p.W429R|HEPH_ENST00000419594.1_Missense_Mutation_p.W432R|HEPH_ENST00000336279.5_Missense_Mutation_p.W162R|HEPH_ENST00000374727.3_Missense_Mutation_p.W432R|HEPH_ENST00000441993.2_Missense_Mutation_p.W432R			Q9BQS7	HEPH_HUMAN	hephaestin	429	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.W429R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGGCACTTACTGGAAAGTGCG	0.373000													16	11					0	0	0.004007	0	0
MYO18B	84700	broad.mit.edu	37	22	26343716	26343716	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr22:26343716G>T	ENST00000335473.7	+	36	5920	c.5670G>T	c.(5668-5670)gcG>gcT	p.A1890A	MYO18B_ENST00000407587.2_Silent_p.A1891A|MYO18B_ENST00000536101.1_Silent_p.A1890A	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1890	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.A1891A(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTGAGAAGGCGGACCTCCTGA	0.567000													5	27					0.000602214	0.000669848	0.014758	1	0
CSTL1	128817	broad.mit.edu	37	20	23425464	23425464	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:23425464C>A	ENST00000347397.1	+	4	633	c.387C>A	c.(385-387)ctC>ctA	p.L129L	CSTL1_ENST00000246020.2_Silent_p.L129L	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	129						extracellular region	cysteine-type endopeptidase inhibitor activity	p.L129L(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					ATTTCCAGCTCTGGAACAATT	0.423000													22	41					4.72057e-08	6.37939e-08	0.021523	1	0
CHRND	1144	broad.mit.edu	37	2	233396061	233396061	+	Splice_Site	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:233396061G>A	ENST00000258385.3	+	8	852		c.e8-1		CHRND_ENST00000536614.1_Splice_Site|CHRND_ENST00000543200.1_Splice_Site|CHRND_ENST00000457943.2_Splice_Site	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)						muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GGCTTCCCCAGGTGGTGAGAA	0.627000													4	64					0	0	0.009096	0	0
TAF1C	9013	broad.mit.edu	37	16	84215065	84215065	+	Missense_Mutation	SNP	G	G	A	rs138550395		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:84215065G>A	ENST00000567759.1	-	10	1293	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	TAF1C_ENST00000570117.1_Missense_Mutation_p.R39W|TAF1C_ENST00000341690.6_Missense_Mutation_p.R278W|TAF1C_ENST00000566732.1_Missense_Mutation_p.R345W|TAF1C_ENST00000378541.4_Missense_Mutation_p.R371W|TAF1C_ENST00000541676.1_Missense_Mutation_p.R278W	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	371					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	p.R371W(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TAGATTTGCCGCAGCCTTGGG	0.637000													10	26					0	0	0.006214	0	0
RLF	6018	broad.mit.edu	37	1	40701600	40701600	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:40701600G>A	ENST00000372771.4	+	8	1253	c.1226G>A	c.(1225-1227)aGa>aAa	p.R409K		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	409					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.R409K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTAGAAGTTAGACGAGCCTGT	0.353000													11	74					0	0	0.008291	0	0
KCNT2	343450	broad.mit.edu	37	1	196227561	196227561	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:196227561G>C	ENST00000367433.5	-	25	3003	c.2902C>G	c.(2902-2904)Cac>Gac	p.H968D	KCNT2_ENST00000367431.4_Missense_Mutation_p.H926D|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.H992D			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	992						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.H992D(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTGCTGCGGTGGTGCCCTTGT	0.453000													39	126					0	0	0.009718	0	0
TSPYL5	85453	broad.mit.edu	37	8	98288946	98288946	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:98288946T>C	ENST00000322128.3	-	1	1230	c.1127A>G	c.(1126-1128)aAt>aGt	p.N376S		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	376					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	p.N376I(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CTGCAAGGGATTGGGCCACAA	0.458000													9	475					0	0	0.006214	0	0
RAB42	115273	broad.mit.edu	37	1	28920492	28920492	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:28920492G>A	ENST00000373826.3	+	2	487	c.181G>A	c.(181-183)Gct>Act	p.A61T	TAF12_ENST00000471683.1_Intron|RAB42_ENST00000465518.1_3'UTR	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	61					small GTPase mediated signal transduction	membrane	GTP binding	p.A61T(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		TGACACCCTCGCTGATGCTAT	0.617000													8	23					0	0	0.004482	0	0
THUMPD2	80745	broad.mit.edu	37	2	39982476	39982476	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:39982476C>A	ENST00000505747.1	-	8	1064	c.1037G>T	c.(1036-1038)gGc>gTc	p.G346V	THUMPD2_ENST00000260619.6_Missense_Mutation_p.G316V	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	346							methyltransferase activity	p.G316V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				ATCCTCAAGGCCTGCAGCTTT	0.323000													9	29					1.08611e-07	1.4382e-07	0.010729	1	0
ENGASE	64772	broad.mit.edu	37	17	77079624	77079624	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:77079624C>T	ENST00000579016.1	+	9	1203	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	401						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	p.V401V(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGCCTTTCGTCACGTCCTTCT	0.627000													10	51					0	0	0.006214	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73440837	73440837	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:73440837G>A	ENST00000556143.1	-	11	2772	c.2052C>T	c.(2050-2052)gcC>gcT	p.A684A	ZFYVE1_ENST00000318876.5_Silent_p.A670A|ZFYVE1_ENST00000394207.2_Silent_p.A269A|ZFYVE1_ENST00000555072.1_Silent_p.A269A|ZFYVE1_ENST00000553891.1_Silent_p.A684A	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	684						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	p.A684A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TGTTCTGCACGGCCTCGCCCA	0.557000													9	61					0	0	0.006214	0	0
OR7C2	26658	broad.mit.edu	37	19	15052430	15052430	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:15052430C>A	ENST00000248072.3	+	1	130	c.130C>A	c.(130-132)Ctc>Atc	p.L44I		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L44I(1)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CGGAAACCTGCTCATCATCCT	0.517000													23	42					2.32416e-17	3.70942e-17	0.014323	1	0
OTOA	146183	broad.mit.edu	37	16	21737885	21737885	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:21737885C>A	ENST00000388958.3	+	18	1923	c.1922C>A	c.(1921-1923)cCc>cAc	p.P641H	OTOA_ENST00000388956.4_Missense_Mutation_p.P562H|OTOA_ENST00000388957.3_Missense_Mutation_p.P317H|OTOA_ENST00000286149.4_Missense_Mutation_p.P655H	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	655					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.P641H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGTGTGTGCCCTTTCTGATC	0.552000													23	123					6.12954e-19	1.00037e-18	0.004656	1	0
DNAL1	83544	broad.mit.edu	37	14	74125618	74125618	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:74125618A>G	ENST00000553645.1	+	3	152	c.111A>G	c.(109-111)atA>atG	p.I37M	DNAL1_ENST00000311089.3_Intron|DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000540526.1_5'UTR|DNAL1_ENST00000554871.1_5'UTR	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	37								p.I37M(2)		kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		TTCCCCCTATAGAGAAGATGG	0.398000													57	211					0	0	0.014410	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231483	29231483	+	RNA	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:29231483C>G	ENST00000441381.1	+	0	79																		p.C125S(1)									CAGAGGCTTGCAGACAGCATT	0.453000													8	172					0	0	0.006214	0	0
SORCS1	114815	broad.mit.edu	37	10	108489872	108489872	+	Splice_Site	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:108489872C>T	ENST00000263054.6	-	6	967	c.959_splice	c.e6-1	p.W320_splice	SORCS1_ENST00000344440.6_Splice_Site_p.W320_splice	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	320						integral to membrane	neuropeptide receptor activity|protein binding	p.W320*(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCATCACAGACCTAAAAAATG	0.418000													20	38					0	0	0.008871	0	0
SSPO	23145	broad.mit.edu	37	7	149481971	149481971	+	RNA	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:149481971G>T	ENST00000378016.2	+	0	2760							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity	p.G256W(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTTCACAGGGGCATTCTGC	0.607000													10	93					7.48243e-07	9.60887e-07	0.006214	1	0
DDX42	11325	broad.mit.edu	37	17	61890703	61890703	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:61890703G>T	ENST00000578681.1	+	16	2392	c.1791G>T	c.(1789-1791)gtG>gtT	p.V597V	DDX42_ENST00000583590.1_Silent_p.V597V|DDX42_ENST00000457800.2_Silent_p.V597V|DDX42_ENST00000359353.5_Silent_p.V478V|DDX42_ENST00000389924.2_Silent_p.V597V	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	597	Helicase C-terminal.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.V597V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGAAAGGTGTGGCCTATACCC	0.488000													7	101					0.00307968	0.00336346	0.003080	1	0
XIRP2	129446	broad.mit.edu	37	2	168104362	168104362	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:168104362A>G	ENST00000409195.1	+	9	6549	c.6460A>G	c.(6460-6462)Act>Gct	p.T2154A	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2154A|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1932A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1979	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding	p.T2154A(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAATATTAACTGATACACA	0.413000													5	29					0	0	0.014758	0	0
PDSS2	57107	broad.mit.edu	37	6	107533374	107533374	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:107533374T>G	ENST00000369037.4	-	5	1092	c.815A>C	c.(814-816)cAt>cCt	p.H272P	PDSS2_ENST00000453874.2_Intron	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	272					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	p.H272P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		CTCAGCATCATGCTTTGCTAA	0.418000													25	133					0	0	0.009535	0	0
RELN	5649	broad.mit.edu	37	7	103207069	103207069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:103207069G>A	ENST00000428762.1	-	32	4885	c.4726C>T	c.(4726-4728)Cga>Tga	p.R1576*	RELN_ENST00000424685.2_Nonsense_Mutation_p.R1576*|RELN_ENST00000343529.5_Nonsense_Mutation_p.R1576*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1576					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	p.R1576*(1)		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)		TGCCACCATCGAAATGCCGTT	0.493000													4	84					0	0	0.014758	0	0
TSPAN11	441631	broad.mit.edu	37	12	31135488	31135488	+	Missense_Mutation	SNP	A	A	T	rs148719778	by1000genomes	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:31135488A>T	ENST00000261177.9	+	6	537	c.478A>T	c.(478-480)Agc>Tgc	p.S160C	TSPAN11_ENST00000544427.1_Missense_Mutation_p.S150C|TSPAN11_ENST00000535215.1_Missense_Mutation_p.S89C|TSPAN11_ENST00000546076.1_Missense_Mutation_p.S160C	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	160						integral to membrane		p.S160C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGGAAGCAACAGCTCAGCCGA	0.627000													3	49					0	0	0.014758	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42374529	42374529	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:42374529A>G	ENST00000290472.3	-	9	825	c.731T>C	c.(730-732)cTg>cCg	p.L244P		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	244					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	p.L244P(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CAAGGGCCTCAGGGGCACAGT	0.478000													3	58					0	0	0.004672	0	0
CXorf21	80231	broad.mit.edu	37	X	30577751	30577751	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:30577751G>T	ENST00000378962.3	-	3	1044	c.722C>A	c.(721-723)gCg>gAg	p.A241E		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	241								p.A241E(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GAGTTCAGACGCCAGAATCTG	0.438000													22	32					8.10497e-08	1.08718e-07	0.010504	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70585498	70585498	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:70585498T>A	ENST00000260126.3	-	10	2859	c.2153A>T	c.(2152-2154)cAg>cTg	p.Q718L	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.Q663L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	718						integral to membrane|plasma membrane	transporter activity	p.Q718L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ACCACATTCCTGTTGCCAGAG	0.468000													70	283					0	0	0.014410	0	0
DMD	1756	broad.mit.edu	37	X	32430021	32430021	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:32430021T>A	ENST00000357033.4	-	30	4287	c.4081A>T	c.(4081-4083)Agg>Tgg	p.R1361W	DMD_ENST00000378677.2_Missense_Mutation_p.R1357W	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1361					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R20W(1)|p.R1356W(1)|p.R1361W(1)|p.R1357W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACTTTTGCCTCCTTACAGCC	0.398000													14	17					0	0	0.016723	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27765055	27765055	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:27765055G>A	ENST00000451261.2	+	5	442	c.43G>A	c.(43-45)Ggg>Agg	p.G15R		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2									p.G15R(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ACCAGACTTAGGGACTGAAAG	0.552000													12	6					0	0	0.013537	0	0
STT3B	201595	broad.mit.edu	37	3	31617899	31617899	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:31617899G>C	ENST00000295770.2	+	2	535	c.326G>C	c.(325-327)aGa>aCa	p.R109T	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	109					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	p.R109T(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TTTAACTATAGATCAACACAT	0.313000													5	26					0	0	0.001984	0	0
SORCS1	114815	broad.mit.edu	37	10	108466382	108466382	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:108466382C>A	ENST00000263054.6	-	8	1161	c.1154G>T	c.(1153-1155)gGa>gTa	p.G385V	SORCS1_ENST00000344440.6_Missense_Mutation_p.G385V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	385						integral to membrane	neuropeptide receptor activity|protein binding	p.G385V(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGGCCGCCCTCCTGATGTCAG	0.468000													7	56					0.00198382	0.00217648	0.001984	1	0
FAT3	120114	broad.mit.edu	37	11	92495238	92495238	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:92495238G>T	ENST00000298047.6	+	4	3903	c.3886G>T	c.(3886-3888)Gtg>Ttg	p.V1296L	FAT3_ENST00000409404.2_Missense_Mutation_p.V1296L|FAT3_ENST00000525166.1_Missense_Mutation_p.V1146L|RP11-203F8.1_ENST00000529884.1_RNA			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1296	Cadherin 12.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1296L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTACAGTATTGTGGATGGGAA	0.453000										TCGA Ovarian(4;0.039)			23	150					7.87624e-14	1.20903e-13	0.016522	1	0
GPM6A	2823	broad.mit.edu	37	4	176622815	176622815	+	Silent	SNP	A	A	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:176622815A>C	ENST00000280187.7	-	3	186	c.141T>G	c.(139-141)ggT>ggG	p.G47G	GPM6A_ENST00000393658.2_Silent_p.G47G|GPM6A_ENST00000506894.1_Silent_p.G36G|GPM6A_ENST00000515090.1_Silent_p.G40G	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	47						cell surface|integral to membrane		p.G47G(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GCGCTTCATGACCGCAGCCAC	0.493000													16	93					0	0	0.004007	0	0
HSPA2	3306	broad.mit.edu	37	14	65008744	65008744	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:65008744G>T	ENST00000247207.6	+	1	1559	c.1177G>T	c.(1177-1179)Gac>Tac	p.D393Y	HSPA2_ENST00000394709.1_Missense_Mutation_p.D393Y	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	393					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	p.D393Y(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GAATGTGCAGGACCTGCTGCT	0.612000													11	43					3.07112e-06	3.84821e-06	0.010729	1	0
LRP2	4036	broad.mit.edu	37	2	169985301	169985301	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:169985301G>A	ENST00000263816.3	-	79	14125	c.13840C>T	c.(13840-13842)Cct>Tct	p.P4614S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4614					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.P4614S(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGTGATGGAGGTGGTGTCGCA	0.468000													20	70					0	0	0.012319	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671823	125671823	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:125671823G>T	ENST00000431078.1	+	24	4243	c.3879G>T	c.(3877-3879)ttG>ttT	p.L1293F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1293					cell adhesion|signal transduction	integral to membrane	receptor binding	p.L1293F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAATTGACTTGCAAAACACAG	0.428000													7	45					8.12818e-05	9.43287e-05	0.001984	1	0
NTRK3	4916	broad.mit.edu	37	15	88678345	88678345	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:88678345C>A	ENST00000394480.1	-	10	1512	c.1191G>T	c.(1189-1191)aaG>aaT	p.K397N	NTRK3_ENST00000355254.2_Missense_Mutation_p.K397N|NTRK3_ENST00000557856.1_Missense_Mutation_p.K397N|NTRK3_ENST00000558676.1_Missense_Mutation_p.K397N|NTRK3_ENST00000357724.2_Missense_Mutation_p.K397N|NTRK3_ENST00000540489.2_Missense_Mutation_p.K397N|NTRK3_ENST00000360948.2_Missense_Mutation_p.K397N|NTRK3_ENST00000317501.3_Missense_Mutation_p.K397N|NTRK3_ENST00000542733.2_Missense_Mutation_p.K299N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	397					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.K397N(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAAAGGGCTCCTTGAGGAAGT	0.527000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			15	92					1.33834e-09	1.90476e-09	0.007413	1	0
SOX7	83595	broad.mit.edu	37	8	10584169	10584169	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:10584169C>T	ENST00000304501.1	-	2	324	c.246G>A	c.(244-246)tcG>tcA	p.S82S	SOX7_ENST00000554914.1_Silent_p.S134S|SOX7_ENST00000553390.1_Silent_p.S134S	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	82					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.S82S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GCGCCTTCCACGACTTTCCTG	0.632000													6	39					0	0	0.001168	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140536820	140536820	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:140536820G>T	ENST00000539533.1	+	1	1244	c.1244G>T	c.(1243-1245)aGg>aTg	p.R415M															p.R415M(2)									AGAGAGAGCAGGGCCGAGTAC	0.473000													7	29					0.000157383	0.000180903	0.003080	1	0
FAM135B	51059	broad.mit.edu	37	8	139165270	139165270	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:139165270C>A	ENST00000395297.1	-	13	1618	c.1448G>T	c.(1447-1449)gGt>gTt	p.G483V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	483								p.G483V(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACATTCTCACCTGGCTCTGG	0.388000										HNSCC(54;0.14)			59	75					3.84483e-29	6.60289e-29	0.014410	1	0
CNTN2	6900	broad.mit.edu	37	1	205042201	205042201	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:205042201G>T	ENST00000331830.4	+	22	3134	c.2850G>T	c.(2848-2850)ctG>ctT	p.L950L		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	950	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.L950P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACAGATGCTGTACCAGAATG	0.537000													5	27					1.23904e-05	1.50055e-05	0.014758	1	0
RAD17	5884	broad.mit.edu	37	5	68695997	68695997	+	Splice_Site	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:68695997G>A	ENST00000509734.1	+	16	2404		c.e16+1		RAD17_ENST00000354868.5_Splice_Site|RAD17_ENST00000354312.3_Splice_Site|RAD17_ENST00000521422.1_Splice_Site|RAD17_ENST00000282891.6_Splice_Site|RAD17_ENST00000358030.2_Splice_Site|RAD17_ENST00000305138.4_Splice_Site|RAD17_ENST00000345306.6_Splice_Site|RAD17_ENST00000361732.2_Splice_Site|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Splice_Site			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)						cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	p.?(1)					Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AGAAATCAAGGTAATAACATA	0.353000								Other conserved DNA damage response genes					6	28					0	0	0.001168	0	0
BIRC6	57448	broad.mit.edu	37	2	32768471	32768471	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:32768471C>G	ENST00000421745.2	+	62	12589	c.12455C>G	c.(12454-12456)cCc>cGc	p.P4152R		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4152					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.P4124R(1)|p.P4152R(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACCATGTCTCCCATACCTGCC	0.483000													24	309					0	0	0.008361	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359733	72359733	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:72359733T>C	ENST00000001146.2	-	6	1365	c.1162A>G	c.(1162-1164)Aaa>Gaa	p.K388E	CYP26B1_ENST00000412253.1_Missense_Mutation_p.K197E|CYP26B1_ENST00000546307.1_Missense_Mutation_p.K313E	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	388					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.K388E(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTCCAGCCTTTGGGGATCTGG	0.632000													6	7					0	0	0.001168	0	0
KCNT2	343450	broad.mit.edu	37	1	196395074	196395074	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:196395074C>A	ENST00000367433.5	-	11	1130	c.1029G>T	c.(1027-1029)caG>caT	p.Q343H	KCNT2_ENST00000367431.4_Missense_Mutation_p.Q343H|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.Q343H			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	343						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.Q343H(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CCCTTCGAACCTGTACATCCA	0.373000													10	33					0.000978159	0.00108302	0.010729	1	0
CACNA1E	777	broad.mit.edu	37	1	181763998	181763998	+	Splice_Site	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:181763998A>T	ENST00000526775.1	+	44	6006		c.e44-1		CACNA1E_ENST00000367567.4_Splice_Site|CACNA1E_ENST00000367573.2_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site|CACNA1E_ENST00000357570.5_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site|CACNA1E_ENST00000367570.1_Splice_Site	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit						energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.?(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGTATTTCCAGGTGGTGACA	0.453000													8	55					0	0	0.003080	0	0
OTOL1	131149	broad.mit.edu	37	3	161221371	161221371	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:161221371C>T	ENST00000327928.4	+	4	1075	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	359	C1q.					collagen		p.P359S(1)		central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCCTAACATCCCCATCAAATT	0.473000													7	26					0	0	0.001984	0	0
ESPNP	284729	broad.mit.edu	37	1	17023377	17023377	+	RNA	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:17023377G>T	ENST00000492551.1	-	0	1570					NR_026567.1																						CAGTAGCTCCGAGTTGTCGCC	0.617000													8	16					5.18039e-06	6.4134e-06	0.003080	1	0
HTR1F	3355	broad.mit.edu	37	3	88040364	88040364	+	Silent	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:88040364T>A	ENST00000319595.4	+	1	519	c.465T>A	c.(463-465)tcT>tcA	p.S155S		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	155					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	p.S155S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TTTTTATCTCTATGCCTCCTC	0.413000													7	19					0	0	0.003080	0	0
NRXN1	9378	broad.mit.edu	37	2	50850508	50850508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:50850508C>A	ENST00000404971.1	-	7	2516	c.1177G>T	c.(1177-1179)Gga>Tga	p.G393*	NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G360*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G360*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.G360*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G360*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G360*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	360	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G393*(1)|p.G394*(1)|p.G360*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTAAACTTTCCATTCACAGGC	0.458000													8	55					5.18039e-06	6.4134e-06	0.003080	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140755658	140755658	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:140755658G>T	ENST00000517434.1	+	1	2008	c.2008G>T	c.(2008-2010)Gac>Tac	p.D670Y	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.D670Y(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGATCCCCGACATCCTGGC	0.692000													10	45					0.00829132	0.00885469	0.008291	1	0
KIAA0895	23366	broad.mit.edu	37	7	36396649	36396649	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:36396649T>A	ENST00000317020.6	-	2	876	c.576A>T	c.(574-576)aaA>aaT	p.K192N	KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.K192N|KIAA0895_ENST00000415803.2_Missense_Mutation_p.K230N|KIAA0895_ENST00000436884.1_Missense_Mutation_p.K92N|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000338533.5_Missense_Mutation_p.K230N|KIAA0895_ENST00000297063.6_Missense_Mutation_p.K243N	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	243								p.K230N(1)|p.K243N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGTTGGTGGGTTTTATAGCAG	0.393000													17	93					0	0	0.004007	0	0
RIMS2	9699	broad.mit.edu	37	8	105261776	105261776	+	Silent	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:105261776C>G	ENST00000507740.1	+	20	3329	c.3093C>G	c.(3091-3093)gcC>gcG	p.A1031A	RIMS2_ENST00000436393.2_Silent_p.A1235A|RIMS2_ENST00000406091.3_Silent_p.A1217A|RIMS2_ENST00000339750.2_Silent_p.A153A|RIMS2_ENST00000262231.10_Silent_p.A1056A	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1279					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.A1031A(2)|p.A1235A(1)|p.A1217A(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCATCCGGGCCCGTGGCCTTG	0.393000										HNSCC(12;0.0054)			3	35					0	0	0.001168	0	0
FAM47B	170062	broad.mit.edu	37	X	34961437	34961437	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:34961437G>T	ENST00000329357.5	+	1	525	c.489G>T	c.(487-489)tgG>tgT	p.W163C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	163								p.W163C(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGGACGCTTGGGCTCGTTGTG	0.587000													11	12					0.00829132	0.00885469	0.008291	1	0
BTBD7	55727	broad.mit.edu	37	14	93709128	93709128	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:93709128T>G	ENST00000334746.5	-	11	3197	c.2890A>C	c.(2890-2892)Acc>Ccc	p.T964P	BTBD7_ENST00000393170.2_Missense_Mutation_p.T538P|BTBD7_ENST00000554565.1_Missense_Mutation_p.T613P	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	964								p.T964P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GGGGAAGGGGTGCGTCTGCTG	0.488000													29	45					0	0	0.009535	0	0
OR2W3	343171	broad.mit.edu	37	1	248058993	248058993	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:248058993C>A	ENST00000537741.1	+	3	362	c.105C>A	c.(103-105)taC>taA	p.Y35*	OR2W3_ENST00000360358.3_Nonsense_Mutation_p.Y35*			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y35*(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGATCGCGTACCTCCTGACCC	0.572000													39	72					1.42033e-22	2.38814e-22	0.019004	1	0
TCF23	150921	broad.mit.edu	37	2	27375715	27375715	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:27375715C>A	ENST00000296096.5	+	3	755	c.625C>A	c.(625-627)Cca>Aca	p.P209T		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	209					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		p.P209T(1)		large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCACTCTCACCAGCTCTTGG	0.537000													40	76					1.8453e-21	3.08118e-21	0.010771	1	0
KIAA0947	23379	broad.mit.edu	37	5	5454709	5454709	+	Missense_Mutation	SNP	A	A	T	rs34789072		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:5454709A>T	ENST00000296564.7	+	11	871	c.649A>T	c.(649-651)Aca>Tca	p.T217S	KIAA0947_ENST00000512608.1_3'UTR	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	217								p.T217S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGTGTAAACACAACACACAG	0.453000													5	27					0	0	0.001168	0	0
ZNF514	84874	broad.mit.edu	37	2	95815661	95815661	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:95815661C>A	ENST00000295208.2	-	5	1031	c.569G>T	c.(568-570)gGg>gTg	p.G190V	ZNF514_ENST00000411425.1_Missense_Mutation_p.G190V	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G190V(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11						GTTGTTTCCCCCTAAAGTCTG	0.428000													29	194					5.77227e-19	9.44197e-19	0.008361	1	0
RIMS2	9699	broad.mit.edu	37	8	104898100	104898100	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:104898100G>A	ENST00000507740.1	+	2	933	c.697G>A	c.(697-699)Gca>Aca	p.A233T	RIMS2_ENST00000436393.2_Missense_Mutation_p.A203T|RIMS2_ENST00000406091.3_Missense_Mutation_p.A425T|RIMS2_ENST00000262231.10_Missense_Mutation_p.A233T	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	456					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.A233T(2)|p.A203T(1)|p.A461T(1)|p.A425T(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAGTTCTTATGCACAAAGGAC	0.473000										HNSCC(12;0.0054)			5	13					0	0	0.014758	0	0
SPTBN2	6712	broad.mit.edu	37	11	66461658	66461658	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:66461658C>A	ENST00000533211.1	-	22	4786	c.4455G>T	c.(4453-4455)caG>caT	p.Q1485H	SPTBN2_ENST00000529997.1_Missense_Mutation_p.Q1485H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Q1485H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1485					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.Q1485H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGCGAGAAGCCTGCAGGCGCC	0.647000											OREG0021113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	54					2.27111e-07	2.98006e-07	0.013537	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77389879	77389879	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:77389879G>A	ENST00000282849.5	-	9	1836	c.1418C>T	c.(1417-1419)tCa>tTa	p.S473L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	473	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S473L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGAAGACCATGAAAACACTCC	0.473000													11	40					0	0	0.008291	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87459223	87459223	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:87459223C>A	ENST00000338056.3	+	12	1711	c.1300C>A	c.(1300-1302)Ctt>Att	p.L434I	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.L368I|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.L417I	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	434								p.L434I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TCCCTCATTACTTGGCCTCTG	0.353000													9	57					3.86212e-05	4.55516e-05	0.008291	1	0
HEATR5A	25938	broad.mit.edu	37	14	31774347	31774347	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:31774347T>A	ENST00000543095.2	-	32	5187	c.5003A>T	c.(5002-5004)gAg>gTg	p.E1668V	HEATR5A_ENST00000439727.1_Missense_Mutation_p.E1375V|HEATR5A_ENST00000439348.1_Missense_Mutation_p.E1662V|HEATR5A_ENST00000389961.3_Missense_Mutation_p.E1662V	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1662							binding	p.E1662V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CTCTCCAAACTCTGGCAGAGT	0.438000													17	45					0	0	0.004007	0	0
PFKP	5214	broad.mit.edu	37	10	3124618	3124618	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:3124618A>G	ENST00000381075.2	+	3	271	c.47A>G	c.(46-48)tAt>tGt	p.Y16C	PFKP_ENST00000381125.4_Missense_Mutation_p.I51V	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	0					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	p.Y16C(1)|p.I51V(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GCGCATGGGTATCTACGTGGG	0.607000													13	88					0	0	0.020292	0	0
NCOA1	8648	broad.mit.edu	37	2	24929492	24929492	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:24929492C>A	ENST00000405141.1	+	14	1864	c.1153C>A	c.(1153-1155)Cga>Aga	p.R385R	NCOA1_ENST00000348332.3_Silent_p.R385R|NCOA1_ENST00000395856.3_Silent_p.R385R|NCOA1_ENST00000288599.5_Silent_p.R385R|NCOA1_ENST00000538539.1_Silent_p.R385R|NCOA1_ENST00000407230.1_Silent_p.R234R|NCOA1_ENST00000406961.1_Silent_p.R385R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	385	Interaction with STAT3.							p.R385R(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAATTCCCCGAGTAAATCC	0.448000			T	PAX3	alveolar rhadomyosarcoma								8	47					0.000157383	0.000180903	0.003080	1	0
MRGPRF	116535	broad.mit.edu	37	11	68777421	68777421	+	Translation_Start_Site	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:68777421C>T	ENST00000309099.6	-	0	331				MRGPRF_ENST00000320913.6_De_novo_Start_OutOfFrame|MRGPRF_ENST00000441623.1_De_novo_Start_OutOfFrame	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F							integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGTCTGCACACCCACCTGGCA	0.672000													16	40					0	0	0.003163	0	0
CORO2B	10391	broad.mit.edu	37	15	69007578	69007578	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:69007578G>A	ENST00000543950.1	+	8	1234	c.880G>A	c.(880-882)Gag>Aag	p.E294K	CORO2B_ENST00000566799.1_Missense_Mutation_p.E299K|CORO2B_ENST00000540068.1_Missense_Mutation_p.E294K|CORO2B_ENST00000261861.5_Missense_Mutation_p.E294K	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	299					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	p.E299K(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCGGTACTACGAGATCAGCAC	0.617000													6	115					0	0	0.001168	0	0
LRP1B	53353	broad.mit.edu	37	2	141641558	141641558	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:141641558C>T	ENST00000389484.3	-	25	4968	c.3997G>A	c.(3997-3999)Ggc>Agc	p.G1333S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1333					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G1333S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAGCCAGGCCATGCTCCACA	0.473000										TSP Lung(27;0.18)			10	69					0	0	0.006214	0	0
COL4A5	1287	broad.mit.edu	37	X	107930773	107930773	+	Silent	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:107930773T>A	ENST00000328300.6	+	49	4621	c.4377T>A	c.(4375-4377)ccT>ccA	p.P1459P	COL4A5_ENST00000361603.2_Silent_p.P1453P	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1453					axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.P1453P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CAGGTCCCCCTGGAACCTCCT	0.502000									Alport syndrome with Diffuse Leiomyomatosis				30	65					0	0	0.009535	0	0
C7	730	broad.mit.edu	37	5	40964941	40964941	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:40964941T>G	ENST00000313164.9	+	14	2207	c.1848T>G	c.(1846-1848)gaT>gaG	p.D616E		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	616	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.D616E(1)					Ovarian(839;0.0112)				GTGGAGAAGATTTACGGTGGC	0.403000													18	167					0	0	0.012319	0	0
DNAJB9	4189	broad.mit.edu	37	7	108213544	108213544	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:108213544A>G	ENST00000249356.3	+	3	965	c.419A>G	c.(418-420)cAt>cGt	p.H140R	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	140					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	p.H140R(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TTTGAAAATCATTTCCAGACA	0.358000													9	27					0	0	0.010729	0	0
SLC12A1	6557	broad.mit.edu	37	15	48551398	48551398	+	Splice_Site	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:48551398C>A	ENST00000396577.3	+	17	2259	c.2042_splice	c.e17-1	p.P682_splice	SLC12A1_ENST00000380993.3_Splice_Site_p.P682_splice|SLC12A1_ENST00000558405.1_Splice_Site_p.P682_splice	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	682					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.P682N(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TACTTCCAGGCCCCAGTGCAT	0.483000													8	81					1.12685e-05	1.37388e-05	0.004482	1	0
PDK1	5163	broad.mit.edu	37	2	173451116	173451116	+	Splice_Site	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:173451116G>A	ENST00000410055.1	+	9	1156	c.1056_splice	c.e9+1	p.L352_splice	PDK1_ENST00000544863.1_Splice_Site_p.L197_splice|PDK1_ENST00000543905.1_Splice_Site_p.L276_splice|PDK1_ENST00000392571.2_Splice_Site_p.L372_splice|PDK1_ENST00000282077.2_Splice_Site_p.L352_splice	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	352	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.L352L(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CAGTGCCTCTGGTATGTTATC	0.453000									Autosomal Dominant Polycystic Kidney Disease				4	43					0	0	0.009096	0	0
PCSK1	5122	broad.mit.edu	37	5	95748052	95748052	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:95748052G>T	ENST00000311106.3	-	7	1089	c.852C>A	c.(850-852)gcC>gcA	p.A284A	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Silent_p.A237A	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	284	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.A284A(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGCCTTCTGGGCTAGCCGGC	0.473000													15	77					4.93089e-13	7.45823e-13	0.020292	1	0
SRRT	51593	broad.mit.edu	37	7	100473278	100473278	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:100473278T>A	ENST00000388793.4	+	2	287	c.67T>A	c.(67-69)Tac>Aac	p.Y23N	SRRT_ENST00000432932.1_Missense_Mutation_p.Y23N|SRRT_ENST00000347433.4_Missense_Mutation_p.Y23N|SRRT_ENST00000457580.2_Missense_Mutation_p.Y23N	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	23	Arg-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.Y23N(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCGCAGCGACTACGACCGTTC	0.572000													11	78					0	0	0.008291	0	0
OR2A14	135941	broad.mit.edu	37	7	143826981	143826981	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:143826981T>A	ENST00000408899.2	+	1	831	c.776T>A	c.(775-777)aTg>aAg	p.M259K		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M259K(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GTCACGTACATGGCCCCCAAG	0.552000													19	200					0	0	0.012319	0	0
ZNF804B	219578	broad.mit.edu	37	7	88966205	88966205	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:88966205C>A	ENST00000333190.4	+	4	4518	c.3909C>A	c.(3907-3909)gcC>gcA	p.A1303A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1303						intracellular	zinc ion binding	p.A1303A(1)		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)			TAAATCCAGCCACAACTTCTA	0.438000										HNSCC(36;0.09)			43	145					8.00217e-19	1.30306e-18	0.014410	1	0
ECEL1	9427	broad.mit.edu	37	2	233345169	233345169	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:233345169C>G	ENST00000304546.1	-	17	2378	c.2168G>C	c.(2167-2169)cGg>cCg	p.R723P	ECEL1_ENST00000409941.1_Missense_Mutation_p.R721P	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	723					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	p.R723P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CTGCGACCGCCGCTTGATGCA	0.652000													9	45					0	0	0.010729	0	0
CD209	30835	broad.mit.edu	37	19	7809059	7809059	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:7809059A>G	ENST00000315599.7	-	6	969	c.947T>C	c.(946-948)aTg>aCg	p.M316T	CD209_ENST00000315591.8_Missense_Mutation_p.M292T|CD209_ENST00000593821.1_Missense_Mutation_p.M180T|CD209_ENST00000593660.1_Missense_Mutation_p.M246T|CD209_ENST00000301357.8_Missense_Mutation_p.M180T|CD209_ENST00000602261.1_Missense_Mutation_p.M224T|CD209_ENST00000394161.5_Missense_Mutation_p.M80T|CD209_ENST00000394173.4_Missense_Mutation_p.M155T|CD209_ENST00000601951.1_Missense_Mutation_p.M292T|CD209_ENST00000354397.6_Missense_Mutation_p.M310T|CD209_ENST00000204801.8_Missense_Mutation_p.M272T|CD209_ENST00000601256.1_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	316	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.M316T(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGAAAGTCCCATCCAGGTGAA	0.557000													13	72					0	0	0.004007	0	0
TP53	7157	broad.mit.edu	37	17	7578455	7578455	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:7578455C>G	ENST00000420246.2	-	5	607	c.475G>C	c.(475-477)Gcc>Ccc	p.A159P	TP53_ENST00000455263.2_Missense_Mutation_p.A159P|TP53_ENST00000269305.4_Missense_Mutation_p.A159P|TP53_ENST00000445888.2_Missense_Mutation_p.A159P|TP53_ENST00000359597.4_Missense_Mutation_p.A159P|TP53_ENST00000413465.2_Missense_Mutation_p.A159P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A159P(19)|p.0?(8)|p.A159T(7)|p.R158fs(6)|p.R158fs*11(6)|p.A159fs*11(4)|p.A159S(4)|p.R65fs(2)|p.A27P(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.A66P(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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)		ATGGCCATGGCGCGGACGCGG	0.627000		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)			28	29					0	0	0.007291	0	0
MUC21	394263	broad.mit.edu	37	6	30955047	30955047	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:30955047C>A	ENST00000376296.3	+	2	1336	c.1095C>A	c.(1093-1095)tcC>tcA	p.S365S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	365	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S365*(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACTCTGGGTCCAGCACGACCT	0.632000													41	117					3.09479e-21	5.1556e-21	0.006999	1	0
ZBTB45	84878	broad.mit.edu	37	19	59027778	59027778	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:59027778G>T	ENST00000594051.1	-	2	1743	c.1263C>A	c.(1261-1263)caC>caA	p.H421Q	ZBTB45_ENST00000600990.1_Missense_Mutation_p.H421Q|ZBTB45_ENST00000354590.3_Missense_Mutation_p.H421Q			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H421Q(1)		breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GGATGAACATGTGCTTGGTGT	0.582000													8	28					0.00448238	0.00485144	0.004482	1	0
ROBO1	6091	broad.mit.edu	37	3	78656193	78656193	+	Splice_Site	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:78656193T>A	ENST00000436010.2	-	27	5316		c.e27-2		ROBO1_ENST00000464233.1_Splice_Site|ROBO1_ENST00000467549.1_Splice_Site|ROBO1_ENST00000495273.1_Splice_Site|ROBO1_ENST00000466906.1_Splice_Site			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)						activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.?(4)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTGGAAGATCTAAAAAGAAAC	0.418000													5	47					0	0	0.014758	0	0
PBX3	5090	broad.mit.edu	37	9	128678003	128678003	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:128678003G>T	ENST00000373487.4	+	3	393	c.313G>T	c.(313-315)Gat>Tat	p.D105Y	PBX3_ENST00000373489.5_Missense_Mutation_p.D105Y|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Intron|PBX3_ENST00000447726.2_Missense_Mutation_p.D30Y|PBX3_ENST00000342287.5_Missense_Mutation_p.D105Y			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	105					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	p.D105Y(1)		biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GGACCCTCCCGATCCCCAGCT	0.557000													8	39					1.06961e-07	1.42681e-07	0.003080	1	0
ZNF304	57343	broad.mit.edu	37	19	57867648	57867648	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:57867648G>T	ENST00000391705.3	+	4	695	c.411G>T	c.(409-411)aaG>aaT	p.K137N	ZNF304_ENST00000598744.1_Missense_Mutation_p.K95N|ZNF304_ENST00000282286.5_Missense_Mutation_p.K137N|ZNF304_ENST00000443917.2_Missense_Mutation_p.K184N	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K137N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGCACCAGAAGCAACATAATG	0.493000													8	38					5.4927e-09	7.66646e-09	0.004482	1	0
REG3G	130120	broad.mit.edu	37	2	79255038	79255038	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:79255038G>T	ENST00000272324.5	+	5	623	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	REG3G_ENST00000409471.1_Missense_Mutation_p.G101W|REG3G_ENST00000393897.2_Missense_Mutation_p.G147W	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	147	C-type lectin.				acute-phase response	extracellular region	sugar binding	p.G147W(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGCCACTGTGGGAGCCTGTC	0.488000													12	115					1.08611e-07	1.4382e-07	0.010729	1	0
RNF144A	9781	broad.mit.edu	37	2	7164598	7164598	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:7164598G>T	ENST00000320892.6	+	7	1050	c.608G>T	c.(607-609)tGc>tTc	p.C203F	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	203						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	p.C203F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CAGATGATGTGCAAGAACTGC	0.537000													9	83					0.00621372	0.00666545	0.006214	1	0
GPD1L	23171	broad.mit.edu	37	3	32207310	32207310	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:32207310C>T	ENST00000282541.5	+	8	1165	c.964C>T	c.(964-966)Cca>Tca	p.P322S		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	322					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity	p.P322S(1)		large_intestine(4)|lung(7)|ovary(1)	12						AACTAGGTTTCCATTGTTTAC	0.408000													16	58					0	0	0.008871	0	0
IZUMO2	126123	broad.mit.edu	37	19	50661573	50661573	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:50661573G>T	ENST00000293405.3	-	5	448	c.448C>A	c.(448-450)Cat>Aat	p.H150N		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	150						integral to membrane		p.H150N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CTCTGGCAATGTAAACAGTCC	0.502000													14	70					9.16793e-09	1.26738e-08	0.004990	1	0
UGDH	7358	broad.mit.edu	37	4	39512309	39512309	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:39512309G>A	ENST00000316423.6	-	4	779	c.437C>T	c.(436-438)gCa>gTa	p.A146V	UGDH_ENST00000507089.1_Missense_Mutation_p.A49V|UGDH_ENST00000501493.2_Intron|UGDH_ENST00000506179.1_Missense_Mutation_p.A146V	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	146					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	p.A146V(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TTTTGTGTTTGCATCAAATAT	0.368000													21	61					0	0	0.016522	0	0
NTRK3	4916	broad.mit.edu	37	15	88678354	88678354	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:88678354G>T	ENST00000394480.1	-	10	1503	c.1182C>A	c.(1180-1182)caC>caA	p.H394Q	NTRK3_ENST00000355254.2_Missense_Mutation_p.H394Q|NTRK3_ENST00000557856.1_Missense_Mutation_p.H394Q|NTRK3_ENST00000558676.1_Missense_Mutation_p.H394Q|NTRK3_ENST00000357724.2_Missense_Mutation_p.H394Q|NTRK3_ENST00000540489.2_Missense_Mutation_p.H394Q|NTRK3_ENST00000360948.2_Missense_Mutation_p.H394Q|NTRK3_ENST00000317501.3_Missense_Mutation_p.H394Q|NTRK3_ENST00000542733.2_Missense_Mutation_p.H296Q	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	394					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.H394Q(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTTGAGGAAGTGGCCATTGA	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			17	95					1.33834e-09	1.90476e-09	0.007413	1	0
AMER3	205147	broad.mit.edu	37	2	131520185	131520185	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:131520185G>T	ENST00000423981.1	+	2	650	c.540G>T	c.(538-540)gaG>gaT	p.E180D	AMER3_ENST00000321420.4_Missense_Mutation_p.E180D	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		TGGCGGCCGAGGGGAAAAGCC	0.647000													4	68					2.56e-06	3.21892e-06	0.009096	1	0
LPHN3	23284	broad.mit.edu	37	4	62897253	62897253	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:62897253G>A	ENST00000512091.1	+	22	4059	c.3312G>A	c.(3310-3312)atG>atA	p.M1104I	LPHN3_ENST00000545650.1_Missense_Mutation_p.M1104I|LPHN3_ENST00000511324.1_Missense_Mutation_p.M1163I|LPHN3_ENST00000504896.1_Missense_Mutation_p.M1104I|LPHN3_ENST00000509896.1_Missense_Mutation_p.M1172I|LPHN3_ENST00000507164.1_Missense_Mutation_p.M1163I|LPHN3_ENST00000514996.1_Missense_Mutation_p.M1095I|LPHN3_ENST00000506746.1_Missense_Mutation_p.M1163I|LPHN3_ENST00000514591.1_Missense_Mutation_p.M1104I|LPHN3_ENST00000508693.1_Missense_Mutation_p.M1172I|LPHN3_ENST00000514157.1_Missense_Mutation_p.M1095I|LPHN3_ENST00000506720.1_Missense_Mutation_p.M1172I|LPHN3_ENST00000506700.1_Missense_Mutation_p.M1095I|LPHN3_ENST00000507625.1_Missense_Mutation_p.M1163I|LPHN3_ENST00000508946.1_Missense_Mutation_p.M1104I			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1082					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.M1104I(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CAGTCATCATGGCCTATCTCT	0.368000													3	17					0	0	0.004672	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626708	108626708	+	Silent	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:108626708T>A	ENST00000264047.2	+	9	1410	c.1134T>A	c.(1132-1134)gtT>gtA	p.V378V	SLC5A7_ENST00000409059.1_Silent_p.V378V|SLC5A7_ENST00000540517.1_Silent_p.V273V	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	378					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.V378V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AAGAAATCGTTTGGGTTATGC	0.448000													9	54					0	0	0.006214	0	0
AGXT	189	broad.mit.edu	37	2	241808615	241808615	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:241808615A>T	ENST00000307503.3	+	2	581	c.194A>T	c.(193-195)cAg>cTg	p.Q65L		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	65					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	p.Q65L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GAAGGCATCCAGTACGTGTTC	0.622000													22	82					0	0	0.016522	0	0
GMDS	2762	broad.mit.edu	37	6	2117778	2117778	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:2117778C>A	ENST00000380815.4	-	3	429	c.160G>T	c.(160-162)Gta>Tta	p.V54L	GMDS_ENST00000530927.1_Missense_Mutation_p.V24L	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	54					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	p.V54L(1)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GACCGCCGTACAATTCCATGG	0.358000													27	86					4.4194e-11	6.45501e-11	0.013726	1	0
DCT	1638	broad.mit.edu	37	13	95092211	95092211	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:95092211C>A	ENST00000377028.5	-	8	1914	c.1501G>T	c.(1501-1503)Gga>Tga	p.G501*	DCT_ENST00000446125.1_Nonsense_Mutation_p.G534*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	501					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.G534*(1)|p.G501*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GGTGTATATCCTTTTCGAAGT	0.458000													7	38					8.12818e-05	9.43287e-05	0.001984	1	0
DLD	1738	broad.mit.edu	37	7	107557757	107557757	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:107557757G>A	ENST00000205402.5	+	11	1367	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	DLD_ENST00000437604.2_Silent_p.L314L|DLD_ENST00000537148.1_Silent_p.L263L|DLD_ENST00000440410.1_Silent_p.L339L	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	362					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	p.L362L(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	GTCCAATGCTGGCTCACAAAG	0.423000													26	85					0	0	0.007291	0	0
LTBP4	8425	broad.mit.edu	37	19	41113371	41113371	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:41113371C>G	ENST00000308370.7	+	10	1293	c.1293C>G	c.(1291-1293)tgC>tgG	p.C431W	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.C394W|LTBP4_ENST00000396819.3_Missense_Mutation_p.C364W|LTBP4_ENST00000545697.1_5'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	431	TB 2.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.C431W(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AACAGATCTGCTGCTGCAGCC	0.667000													27	30					0	0	0.005443	0	0
ATN1	1822	broad.mit.edu	37	12	7050624	7050624	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:7050624A>C	ENST00000356654.4	+	9	3683	c.3446A>C	c.(3445-3447)gAg>gCg	p.E1149A	ATN1_ENST00000396684.2_Missense_Mutation_p.E1149A	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1149					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.E1149A(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CAGTCAGCTGAGCTGCAGCGC	0.642000													35	34					0	0	0.017118	0	0
CD6	923	broad.mit.edu	37	11	60785469	60785469	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:60785469C>A	ENST00000313421.7	+	11	2007	c.1821C>A	c.(1819-1821)acC>acA	p.T607T	CD6_ENST00000452451.2_Silent_p.T566T|CD6_ENST00000352009.5_Silent_p.T575T|CD6_ENST00000346437.4_Silent_p.T534T|CD6_ENST00000344028.5_Silent_p.T575T	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	607					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	p.T607T(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TGGCCGGCACCCAGCCAGCCT	0.592000													13	67					2.23348e-06	2.82309e-06	0.004007	1	0
USH2A	7399	broad.mit.edu	37	1	215901625	215901625	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:215901625T>A	ENST00000366943.2	-	61	12199	c.11813A>T	c.(11812-11814)tAc>tTc	p.Y3938F	USH2A_ENST00000307340.3_Missense_Mutation_p.Y3938F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3938	Fibronectin type-III 24.				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)		CCGATATTCGTAGAGTGTGAA	0.488000										HNSCC(13;0.011)			4	110					0	0	0.001168	0	0
C1orf173	127254	broad.mit.edu	37	1	75102097	75102097	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:75102097G>C	ENST00000326665.5	-	6	688	c.470C>G	c.(469-471)cCa>cGa	p.P157R		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	157								p.P157R(1)		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						CATATTTCCTGGAGCAGTATA	0.398000													12	196					0	0	0.020292	0	0
KYNU	8942	broad.mit.edu	37	2	143799619	143799619	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:143799619G>T	ENST00000264170.4	+	14	1534	c.1276G>T	c.(1276-1278)Gac>Tac	p.D426Y	KYNU_ENST00000409512.1_Missense_Mutation_p.D426Y	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	426					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.D426Y(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CCCACAGTGTGACAAGCGGAA	0.348000													5	42					1.6384e-10	2.35969e-10	0.001984	1	0
PCDHA6	56142	broad.mit.edu	37	5	140208228	140208228	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:140208228A>G	ENST00000529310.1	+	1	666	c.552A>G	c.(550-552)atA>atG	p.I184M	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.I184M|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.I184M(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTGAAAATAAACAGTGATG	0.438000													37	71					0	0	0.021022	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159363	118159363	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:118159363G>T	ENST00000427715.2	+	5	529	c.95G>T	c.(94-96)tGc>tTc	p.C32F	SLC30A8_ENST00000521243.1_Missense_Mutation_p.C32F|SLC30A8_ENST00000456015.2_Missense_Mutation_p.C81F|SLC30A8_ENST00000519688.1_Missense_Mutation_p.C32F	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	81					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.C81F(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCAGCAATATGCTTCATTTTC	0.468000													19	42					5.3912e-06	6.66298e-06	0.006122	1	0
BMPER	168667	broad.mit.edu	37	7	34118560	34118560	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:34118560G>A	ENST00000297161.2	+	13	1544	c.1170G>A	c.(1168-1170)ttG>ttA	p.L390L	BMPER_ENST00000426693.1_Silent_p.L390L	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	390	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.L390L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGTACGTTTTGACAAAAGACT	0.587000													10	157					0	0	0.006214	0	0
MALAT1	378938	broad.mit.edu	37	11	65268496	65268496	+	RNA	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:65268496G>T	ENST00000534336.1	+	0	3264					NR_002819.2																						TTTTTTACACGAATTTGAGGA	0.363000													6	79					2.0095e-06	2.54443e-06	0.001984	1	0
SMG8	55181	broad.mit.edu	37	17	57289749	57289749	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:57289749A>C	ENST00000543872.2	+	3	2071	c.1807A>C	c.(1807-1809)Agc>Cgc	p.S603R	SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.S603R			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	603					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	p.S603R(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ATATCACAATAGCCGAGCTCG	0.413000													35	105					0	0	0.017118	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117985987	117985987	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:117985987A>T	ENST00000534111.1	+	11	1403	c.1138A>T	c.(1138-1140)Acc>Tcc	p.T380S	TMPRSS4_ENST00000518413.2_Intron|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.T342S|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.T377S|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.T235S|TMPRSS4_ENST00000437212.3_Missense_Mutation_p.T382S	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	382	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.T382S(1)		breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GGGTGTGGACACCTGCCAGGT	0.557000													8	73					0	0	0.006214	0	0
SPTA1	6708	broad.mit.edu	37	1	158617448	158617448	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:158617448G>A	ENST00000368148.3	-	27	3957	c.3777C>T	c.(3775-3777)gaC>gaT	p.D1259D	SPTA1_ENST00000368147.3_Silent_p.D1259D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1259					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	p.D1259D(1)		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)					GTCTCTGCAGGTCCTCAGTGG	0.537000													4	75					0	0	0.014758	0	0
GDF10	2662	broad.mit.edu	37	10	48429174	48429174	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:48429174T>A	ENST00000224605.2	-	2	977	c.712A>T	c.(712-714)Agc>Tgc	p.S238C		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	238					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.S238C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GCATAGGGGCTGGGCCGGGGC	0.667000													4	15					0	0	0.014758	0	0
FAIM2	23017	broad.mit.edu	37	12	50282944	50282944	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:50282944G>A	ENST00000320634.3	-	10	787	c.693C>T	c.(691-693)ctC>ctT	p.L231L	FAIM2_ENST00000550890.1_Silent_p.L185L	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	231					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane		p.L231L(1)		endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						AAAGAGTCATGAGAAGCACGA	0.617000													3	10					0	0	0.004672	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16875341	16875341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:16875341G>A	ENST00000437538.2	-	1	57	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	TNFRSF13B_ENST00000583789.1_Nonsense_Mutation_p.Q17*|TNFRSF13B_ENST00000261652.2_Nonsense_Mutation_p.Q17*|TNFRSF13B_ENST00000579315.1_Nonsense_Mutation_p.Q17*|TNFRSF13B_ENST00000581616.2_5'UTR			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	17					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.Q17*(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CGCTCCTCCTGGTCCACACGG	0.622000									IgA Deficiency, Selective				25	28					0	0	0.021523	0	0
RIMS2	9699	broad.mit.edu	37	8	104897822	104897822	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:104897822G>T	ENST00000507740.1	+	2	655	c.419G>T	c.(418-420)cGc>cTc	p.R140L	RIMS2_ENST00000436393.2_Missense_Mutation_p.R110L|RIMS2_ENST00000406091.3_Missense_Mutation_p.R332L|RIMS2_ENST00000262231.10_Missense_Mutation_p.R140L|RIMS2_ENST00000522174.1_3'UTR	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	363	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R140L(2)|p.R368L(1)|p.R110L(1)|p.R332L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TACCAGTCACGCTACCGAAGT	0.463000										HNSCC(12;0.0054)			3	16					0.004672	0.00502657	0.004672	1	0
NAAA	27163	broad.mit.edu	37	4	76841001	76841001	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:76841001T>A	ENST00000505594.1	-	7	918	c.727A>T	c.(727-729)Atg>Ttg	p.M243L	NAAA_ENST00000286733.4_Intron|NAAA_ENST00000511606.1_Intron|NAAA_ENST00000507956.1_Intron|NAAA_ENST00000399497.3_Intron			Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	0					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						GAGTTTTTCATATTCACTATT	0.393000													7	41					0	0	0.001984	0	0
HDAC9	9734	broad.mit.edu	37	7	18705919	18705919	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:18705919G>T	ENST00000406451.3	+	12	1692	c.1542G>T	c.(1540-1542)gcG>gcT	p.A514A	HDAC9_ENST00000405010.3_Silent_p.A514A|HDAC9_ENST00000441542.2_Silent_p.A517A|HDAC9_ENST00000456174.2_Silent_p.A486A|HDAC9_ENST00000406072.1_Silent_p.A501A|HDAC9_ENST00000432645.2_Silent_p.A514A|HDAC9_ENST00000428307.2_Silent_p.A470A|HDAC9_ENST00000524023.1_Silent_p.A437A|HDAC9_ENST00000401921.1_Silent_p.A473A|HDAC9_ENST00000417496.2_Silent_p.A512A	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	514					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.A517A(6)|p.A512A(2)|p.A514A(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGGACCAGGCGATGCAGGAAG	0.532000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	71					5.26018e-13	7.93968e-13	0.012319	1	0
MAGEC1	9947	broad.mit.edu	37	X	140994298	140994298	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:140994298C>A	ENST00000285879.4	+	4	1394	c.1108C>A	c.(1108-1110)Cag>Aag	p.Q370K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	370							protein binding	p.Q370K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTTTTCCCCAGTCTCCTCT	0.468000										HNSCC(15;0.026)			34	86					9.65963e-10	1.3857e-09	0.015359	1	0
DUSP22	56940	broad.mit.edu	37	6	350824	350824	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:350824G>T	ENST00000344450.5	+	8	954	c.511G>T	c.(511-513)Gct>Tct	p.A171S	DUSP22_ENST00000419235.2_3'UTR|DUSP22_ENST00000604971.1_3'UTR	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	171					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A171S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CTTCACAGCCGCTCCGGGAAT	0.408000													19	145					8.10497e-08	1.08718e-07	0.010504	1	0
GPSM1	26086	broad.mit.edu	37	9	139250962	139250962	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:139250962A>G	ENST00000440944.1	+	13	2001	c.1781A>G	c.(1780-1782)gAg>gGg	p.E594G	GPSM1_ENST00000429455.1_Missense_Mutation_p.E85G|GPSM1_ENST00000392944.1_Missense_Mutation_p.E85G	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	594					cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	p.E571G(1)		biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GAGCCCCAGGAGCCGGGGGAC	0.706000													4	36					0	0	0.001984	0	0
IGHA1	3493	broad.mit.edu	37	14	106174436	106174436	+	RNA	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:106174436G>C	ENST00000390547.2	-	0	352																											Tgagggagatggggtaggtgg	0.622000													3	7					0	0	0.009096	0	0
MUC21	394263	broad.mit.edu	37	6	30955046	30955046	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:30955046C>A	ENST00000376296.3	+	2	1335	c.1094C>A	c.(1093-1095)tCc>tAc	p.S365Y	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	365	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S365*(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AACTCTGGGTCCAGCACGACC	0.632000													42	115					2.26627e-22	3.80166e-22	0.007835	1	0
HEATR5B	54497	broad.mit.edu	37	2	37289111	37289111	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:37289111C>T	ENST00000233099.5	-	11	1762	c.1667G>A	c.(1666-1668)tGg>tAg	p.W556*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.W556*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	556							binding	p.W556*(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAGTAAAAGCCAGCCAGCTTG	0.373000													7	84					0	0	0.001984	0	0
DCAF5	8816	broad.mit.edu	37	14	69521308	69521308	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:69521308T>G	ENST00000341516.5	-	9	2242	c.2095A>C	c.(2095-2097)Aaa>Caa	p.K699Q	DCAF5_ENST00000557386.1_Missense_Mutation_p.K698Q|DCAF5_ENST00000554215.1_Missense_Mutation_p.K617Q|DCAF5_ENST00000556847.1_Missense_Mutation_p.K617Q	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	699						CUL4 RING ubiquitin ligase complex		p.K699Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GGGTTGTCTTTGTGGCTGGTT	0.537000													7	145					0	0	0.001984	0	0
CYP7A1	1581	broad.mit.edu	37	8	59410881	59410881	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:59410881G>A	ENST00000301645.3	-	2	365	c.228C>T	c.(226-228)gtC>gtT	p.V76V		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	76					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	p.V76V(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGATGAAATGGACATATTTTC	0.393000									Neonatal Giant Cell Hepatitis				7	140					0	0	0.001984	0	0
APOB	338	broad.mit.edu	37	2	21228933	21228933	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:21228933G>T	ENST00000233242.1	-	26	10934	c.10807C>A	c.(10807-10809)Cat>Aat	p.H3603N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3603					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.H3603N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGACTTGCATGGACCTGAACA	0.488000													17	46					1.15088e-07	1.5184e-07	0.004007	1	0
ARSF	416	broad.mit.edu	37	X	2998960	2998960	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:2998960C>A	ENST00000381127.1	+	5	533	c.312C>A	c.(310-312)gtC>gtA	p.V104V	ARSF_ENST00000359361.2_Silent_p.V104V|ARSF_ENST00000537104.1_Silent_p.V104V	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	104						extracellular region	arylsulfatase activity|metal ion binding	p.V104V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				ATAGACGTGTCATCCAAAATC	0.428000													14	13					2.32078e-09	3.2772e-09	0.003163	1	0
IGKV2-30	28919	broad.mit.edu	37	2	89544279	89544279	+	RNA	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:89544279T>G	ENST00000468494.1	-	0	374																											AGTGTGTACCTTGCATGCAGT	0.562000													14	132					0	0	0.010504	0	0
RIN1	9610	broad.mit.edu	37	11	66102525	66102525	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:66102525C>T	ENST00000311320.4	-	6	871	c.745G>A	c.(745-747)Gtg>Atg	p.V249M	RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.V144M|RIN1_ENST00000530056.1_Missense_Mutation_p.V144M	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	249					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	p.V249M(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCTGTGGACACGCGCACTTTG	0.672000													7	44					0	0	0.001984	0	0
NRXN1	9378	broad.mit.edu	37	2	50280420	50280420	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:50280420G>T	ENST00000404971.1	-	22	5576	c.4237C>A	c.(4237-4239)Ccc>Acc	p.P1413T	NRXN1_ENST00000402717.3_Missense_Mutation_p.P1365T|NRXN1_ENST00000406859.3_Missense_Mutation_p.P1343T|NRXN1_ENST00000342183.5_Missense_Mutation_p.P308T|NRXN1_ENST00000401710.1_Missense_Mutation_p.P361T|NRXN1_ENST00000406316.2_Missense_Mutation_p.P1343T|NRXN1_ENST00000405472.3_Missense_Mutation_p.P1365T|NRXN1_ENST00000401669.2_Missense_Mutation_p.P1373T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1343					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.P1414T(1)|p.P1413T(1)|p.P308T(1)|p.P1343T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGCTAATGGGTTCTTTTGTC	0.438000													7	88					0.00307968	0.00336346	0.003080	1	0
SLC5A8	160728	broad.mit.edu	37	12	101577997	101577997	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:101577997T>A	ENST00000536262.2	-	8	1525	c.967A>T	c.(967-969)Atg>Ttg	p.M323L		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	323					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.M323L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAATAAGGCATGAGCTGAAAA	0.378000													6	34					0	0	0.001168	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985603	142985603	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:142985603C>A	ENST00000316549.6	-	16	2087	c.1879G>T	c.(1879-1881)Ggc>Tgc	p.G627C		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	627					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.G627C(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CCTCCCAGGCCGAGGTCTCCC	0.498000													17	62					3.32936e-07	4.33717e-07	0.006122	1	0
HOXC10	3226	broad.mit.edu	37	12	54379623	54379623	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:54379623G>T	ENST00000303460.4	+	1	654	c.580G>T	c.(580-582)Ggc>Tgc	p.G194C		NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	194					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G194C(1)		endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						TCAGCTGGGGGGCAAAGTGAG	0.642000													9	22					3.03607e-14	4.69034e-14	0.013537	1	0
BMS1	9790	broad.mit.edu	37	10	43292409	43292409	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:43292409G>T	ENST00000374518.4	+	10	1780	c.1717G>T	c.(1717-1719)Gct>Tct	p.A573S		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	573					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.A573S(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGAAAGCAGCTCTCCCCAC	0.483000													19	38					8.28177e-16	1.30451e-15	0.007413	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885435	88885435	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:88885435A>T	ENST00000319675.3	-	1	861	c.765T>A	c.(763-765)tgT>tgA	p.C255*		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	255								p.C255*(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTTGATTTCCACAGCGCAGAT	0.512000													15	115					0	0	0.003163	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300683	103300683	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:103300683G>T	ENST00000233969.2	+	5	1455	c.1313G>T	c.(1312-1314)cGa>cTa	p.R438L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	438						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.R438L(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GGAGGACTTCGAGGTGCCATC	0.438000													26	169					4.22769e-11	6.1875e-11	0.006320	1	0
RYR2	6262	broad.mit.edu	37	1	237711773	237711773	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:237711773G>A	ENST00000366574.2	+	26	3266	c.2949G>A	c.(2947-2949)ctG>ctA	p.L983L	RYR2_ENST00000542537.1_Silent_p.L967L|RYR2_ENST00000360064.6_Silent_p.L981L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	983	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L981L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTATGGACCTGAGCTTTATCA	0.453000													15	17					0	0	0.003163	0	0
RALYL	138046	broad.mit.edu	37	8	85799925	85799925	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:85799925C>A	ENST00000521268.1	+	8	1877	c.772C>A	c.(772-774)Cct>Act	p.P258T	RALYL_ENST00000522455.1_Missense_Mutation_p.P258T|RALYL_ENST00000518566.1_Missense_Mutation_p.P247T|RALYL_ENST00000523850.1_Missense_Mutation_p.P185T|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000521695.1_Missense_Mutation_p.P258T|RALYL_ENST00000517638.1_Missense_Mutation_p.P271T	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	258							identical protein binding|nucleotide binding|RNA binding	p.P258S(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TACAGAGGAGCCTGCTGAAGG	0.512000													29	71					2.65835e-16	4.21488e-16	0.007291	1	0
ERVW-1	30816	broad.mit.edu	37	7	92098120	92098120	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:92098120C>T	ENST00000493463.2	-	1	2499	c.1576G>A	c.(1576-1578)Gca>Aca	p.A526T	ERVW-1_ENST00000603053.1_Missense_Mutation_p.A526T|ERVW-1_ENST00000604270.1_5'UTR|AC007566.10_ENST00000427458.1_RNA	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		526					syncytium formation	integral to membrane|plasma membrane|virion		p.A526T(1)		endometrium(1)|large_intestine(1)|lung(15)	17						agaggttgtgcagctgagatt	0.547000													30	90					0	0	0.013726	0	0
ELFN2	114794	broad.mit.edu	37	22	37771374	37771374	+	Silent	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr22:37771374G>C	ENST00000402918.1	-	3	986	c.201C>G	c.(199-201)ctC>ctG	p.L67L	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Silent_p.L67L	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	67						cell surface|integral to membrane		p.L67L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCACGGCTTTGAGCTTGTTCT	0.592000													8	47					0	0	0.004482	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125367443	125367443	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:125367443G>C	ENST00000431078.1	+	12	2183	c.1819G>C	c.(1819-1821)Gac>Cac	p.D607H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	607	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.D607H(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTCTACATCGACTCAGATGG	0.532000													11	59					0	0	0.008291	0	0
B3GNT6	192134	broad.mit.edu	37	11	76750737	76750737	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:76750737C>A	ENST00000533140.1	+	2	280	c.142C>A	c.(142-144)Cca>Aca	p.P48T	B3GNT6_ENST00000421061.1_Silent_p.R31R|B3GNT6_ENST00000354301.5_Missense_Mutation_p.P48T			Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	48					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity	p.P48T(2)		central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GGAGGAGACGCCAGAGGGTCC	0.731000											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	17					0.00116845	0.00128582	0.001168	1	0
SELP	6403	broad.mit.edu	37	1	169586542	169586542	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:169586542C>T	ENST00000263686.6	-	3	242	c.205G>A	c.(205-207)Gcc>Acc	p.A69T	SELP_ENST00000367794.2_Missense_Mutation_p.A69T|SELP_ENST00000367793.2_Missense_Mutation_p.A69T|SELP_ENST00000458599.2_Missense_Mutation_p.A69T|SELP_ENST00000367792.2_Missense_Mutation_p.A69T|SELP_ENST00000367786.2_Missense_Mutation_p.A69T|SELP_ENST00000367791.2_Missense_Mutation_p.A69T|SELP_ENST00000367788.2_Missense_Mutation_p.A69T	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	69	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.A69T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTCTGGATGGCCACTAAGTCT	0.413000													56	136					0	0	0.014410	0	0
C17orf103	256302	broad.mit.edu	37	17	21146659	21146659	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:21146659G>A	ENST00000399011.2	-	4	307	c.306C>T	c.(304-306)ccC>ccT	p.P102P	C17orf103_ENST00000468196.1_3'UTR	NM_152914.2	NP_690878.2	Q8N6N6	GTL3B_HUMAN	chromosome 17 open reading frame 103	103								p.P102P(1)|p.P103L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						ACTGCGGCAGGGGGTTCTCCT	0.672000													3	49					0	0	0.014758	0	0
PDHA2	5161	broad.mit.edu	37	4	96762200	96762200	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:96762200G>T	ENST00000295266.4	+	1	962	c.899G>T	c.(898-900)cGt>cTt	p.R300L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	300					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.R300L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GTCAGTTATCGTACACGAGAA	0.433000													14	69					2.61681e-11	3.84544e-11	0.020292	1	0
C15orf27	123591	broad.mit.edu	37	15	76496577	76496577	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:76496577C>A	ENST00000388942.3	+	11	1793	c.1517C>A	c.(1516-1518)cCc>cAc	p.P506H		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	506						integral to membrane		p.P506H(1)		endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CACTTCCAGCCCACTGTGCCC	0.552000													19	101					5.35267e-07	6.92304e-07	0.007413	1	0
FLT4	2324	broad.mit.edu	37	5	180048007	180048007	+	Splice_Site	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:180048007C>T	ENST00000261937.6	-	15	2246	c.2167_splice	c.e15-1	p.G723_splice	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Splice_Site_p.G723_splice|FLT4_ENST00000393347.3_Splice_Site_p.G723_splice	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	723	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.G723E(2)|p.G533E(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CAAGTCGACTCCTGCAGGGGG	0.687000													4	13					0	0	0.014758	0	0
SLC4A4	8671	broad.mit.edu	37	4	72332163	72332163	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:72332163C>A	ENST00000340595.3	+	10	1564	c.1368C>A	c.(1366-1368)ggC>ggA	p.G456G	SLC4A4_ENST00000264485.5_Silent_p.G500G|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Silent_p.G500G|SLC4A4_ENST00000512686.1_Silent_p.G456G|SLC4A4_ENST00000351898.6_Silent_p.G500G	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	500						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.G500G(1)|p.G456G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TATTTTAGGGCGTGTTGGAGA	0.413000													14	115					1.5739e-10	2.27585e-10	0.004007	1	0
COL11A1	1301	broad.mit.edu	37	1	103573670	103573670	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:103573670A>T	ENST00000358392.2	-	1	382	c.65T>A	c.(64-66)cTc>cAc	p.L22H	COL11A1_ENST00000370096.3_Missense_Mutation_p.L22H|COL11A1_ENST00000512756.1_Missense_Mutation_p.L22H|COL11A1_ENST00000353414.4_Missense_Mutation_p.L22H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	22					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.L22H(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGTCAATGCGAGGGTTGTTAC	0.547000													9	51					0	0	0.008291	0	0
PCDH10	57575	broad.mit.edu	37	4	134071449	134071449	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:134071449G>T	ENST00000264360.4	+	1	980	c.154G>T	c.(154-156)Ggg>Tgg	p.G52W		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	52	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G52W(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TTCGGCTCGCGGGTTTCAGAC	0.522000													25	69					4.7796e-09	6.697e-09	0.004656	1	0
POU2F3	25833	broad.mit.edu	37	11	120175760	120175760	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:120175760C>T	ENST00000260264.4	+	7	506	c.472C>T	c.(472-474)Cca>Tca	p.P158S	POU2F3_ENST00000543440.2_Missense_Mutation_p.P156S	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	156					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	p.P156S(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CCCTGGGCTGCCAGGATCCTC	0.488000													45	88					0	0	0.014410	0	0
DTX4	23220	broad.mit.edu	37	11	58949516	58949516	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:58949516G>T	ENST00000227451.3	+	2	620	c.516G>T	c.(514-516)caG>caT	p.Q172H	DTX4_ENST00000532982.1_Missense_Mutation_p.Q66H	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	172					Notch signaling pathway	cytoplasm	zinc ion binding	p.Q172H(1)|p.Q66H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CTAAGGCTCAGTCCTGGCCAG	0.657000													7	44					0.000157383	0.000180903	0.003080	1	0
SCN1A	6323	broad.mit.edu	37	2	166848161	166848161	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:166848161A>G	ENST00000423058.2	-	26	5641	c.5624T>C	c.(5623-5625)gTt>gCt	p.V1875A	SCN1A_ENST00000303395.4_Missense_Mutation_p.V1875A|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V1847A|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1864A	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1875						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V1875A(1)|p.V1864A(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTCTCCTAGAACCCGCTTTGT	0.468000													5	59					0	0	0.014758	0	0
ABCB5	340273	broad.mit.edu	37	7	20698250	20698250	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:20698250C>A	ENST00000404938.2	+	14	2310	c.1658C>A	c.(1657-1659)tCt>tAt	p.S553Y	ABCB5_ENST00000258738.6_Missense_Mutation_p.S108Y|ABCB5_ENST00000443026.2_Missense_Mutation_p.S108Y|ABCB5_ENST00000406935.1_Missense_Mutation_p.S108Y	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	108					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.S108Y(2)|p.S553Y(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAGGCTACGTCTGCCCTGGAT	0.448000													19	39					7.41877e-09	1.02951e-08	0.012319	1	0
ZAP70	7535	broad.mit.edu	37	2	98354099	98354099	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:98354099G>T	ENST00000264972.5	+	11	1668	c.1453G>T	c.(1453-1455)Gca>Tca	p.A485S	ZAP70_ENST00000442208.1_Missense_Mutation_p.A359S|ZAP70_ENST00000451498.2_Missense_Mutation_p.A178S|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	485	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.A485S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCTCTCCAAAGCACTGGGTGC	0.612000													5	43					0.00116845	0.00128582	0.001168	1	0
AMOT	154796	broad.mit.edu	37	X	112054522	112054522	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:112054522C>A	ENST00000371959.3	-	3	1491	c.1492G>T	c.(1492-1494)Gag>Tag	p.E498*	AMOT_ENST00000524145.1_Nonsense_Mutation_p.E498*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.E89*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.E266*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.E266*	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	498					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.E89*(1)|p.E498*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ATCTCGCCCTCTAGCTTGTTT	0.512000													82	94					1.47272e-24	2.49947e-24	0.014410	1	0
UBE4B	10277	broad.mit.edu	37	1	10207112	10207112	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:10207112A>T	ENST00000377157.3	+	18	2881	c.1820A>T	c.(1819-1821)cAg>cTg	p.Q607L	UBE4B_ENST00000343090.6_Missense_Mutation_p.Q852L|UBE4B_ENST00000253251.8_Missense_Mutation_p.Q723L	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	852					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.Q723L(1)|p.Q852L(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTTCTCATTCAGCTGCTGCTC	0.527000													40	103					0	0	0.006999	0	0
FRG1B	284802	broad.mit.edu	37	20	29632690	29632690	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:29632690G>T	ENST00000278882.3	+	8	885	c.505G>T	c.(505-507)Gat>Tat	p.D169Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.D169Y														p.D169Y(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTCAGAAAGATGGATTTTT	0.313000													13	649					4.75885e-15	7.44729e-15	0.004990	1	0
ARCN1	372	broad.mit.edu	37	11	118463522	118463522	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:118463522G>T	ENST00000359415.4	+	8	1371	c.1206G>T	c.(1204-1206)gtG>gtT	p.V402V	ARCN1_ENST00000264028.4_Silent_p.V361V|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Silent_p.V273V			P48444	COPD_HUMAN	archain 1	361	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		p.V361V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACGTAGGGGTGCTAAAGTGGA	0.433000													306	173					6.77638e-166	1.20376e-165	0.014410	1	0
ZFYVE27	118813	broad.mit.edu	37	10	99504558	99504558	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:99504558G>A	ENST00000393677.4	+	4	545	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	ZFYVE27_ENST00000356257.4_Missense_Mutation_p.R114Q|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.R82Q|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.R16Q|ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.R114Q|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.R114Q|ZFYVE27_ENST00000370613.3_Intron	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	114					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	p.R114Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GAGGTTTGCCGGGCACGGCTG	0.592000													4	47					0	0	0.009096	0	0
RASGRP3	25780	broad.mit.edu	37	2	33774801	33774801	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:33774801G>T	ENST00000403687.3	+	14	2265	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*	RASGRP3_ENST00000402538.3_Nonsense_Mutation_p.E509*|RASGRP3_ENST00000407811.1_Nonsense_Mutation_p.E508*	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	509					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	p.E509*(1)|p.E509K(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AACCTTCTGCGAACACTGTGC	0.388000													26	34					4.2108e-06	5.24898e-06	0.009535	1	0
SLC1A3	6507	broad.mit.edu	37	5	36684013	36684013	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:36684013C>A	ENST00000265113.4	+	9	1813	c.1337C>A	c.(1336-1338)gCg>gAg	p.A446E	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Intron	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	446					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.A446E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	ATTCCTCAGGCGGGCCTGGTC	0.532000													23	80					1.64293e-13	2.50599e-13	0.018920	1	0
ZNF33A	7581	broad.mit.edu	37	10	38305840	38305840	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:38305840G>T	ENST00000374618.3	+	3	229	c.51G>T	c.(49-51)gtG>gtT	p.V17V	ZNF33A_ENST00000307441.9_Silent_p.V17V|ZNF33A_ENST00000469037.2_Silent_p.V17V|ZNF33A_ENST00000458705.2_Silent_p.V17V|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000432900.2_Silent_p.V24V	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	17	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V17V(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TTAAAGATGTGACTGTGGGCT	0.468000													13	41					6.31663e-08	8.52038e-08	0.003163	1	0
RASA3	22821	broad.mit.edu	37	13	114773056	114773056	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:114773056C>A	ENST00000334062.7	-	18	1816	c.1695G>T	c.(1693-1695)ggG>ggT	p.G565G	RASA3_ENST00000389544.4_Silent_p.G533G	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	565					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	p.G565G(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GGTCTCTTCTCCCCGAGGACG	0.537000													9	38					2.17888e-05	2.61682e-05	0.006214	1	0
LOC286238	286238	broad.mit.edu	37	9	91262514	91262514	+	RNA	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:91262514G>A	ENST00000418343.2	-	0	237																											GTGAGTAAGGGGTTGGATTAA	0.393000													3	103					0	0	0.004672	0	0
CNTN2	6900	broad.mit.edu	37	1	205042200	205042200	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:205042200T>C	ENST00000331830.4	+	22	3133	c.2849T>C	c.(2848-2850)cTg>cCg	p.L950P		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	950	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.L950P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCACAGATGCTGTACCAGAAT	0.542000													5	26					0	0	0.014758	0	0
FAT4	79633	broad.mit.edu	37	4	126240578	126240578	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:126240578C>T	ENST00000394329.3	+	1	3025	c.3012C>T	c.(3010-3012)acC>acT	p.T1004T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1004	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T1004T(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGAAGTCACCCTTTCTGAGT	0.408000													8	107					0	0	0.003080	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611461	84611461	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:84611461G>T	ENST00000286744.5	+	18	2455	c.2231G>T	c.(2230-2232)cGa>cTa	p.R744L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R744L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	744	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.R744L(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGGAGTGCCGAGATGAAAAG	0.582000													17	41					1.02788e-11	1.51975e-11	0.004990	1	0
USP36	57602	broad.mit.edu	37	17	76794540	76794540	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:76794540G>C	ENST00000312010.6	-	20	3658	c.3334C>G	c.(3334-3336)Cac>Gac	p.H1112D	USP36_ENST00000542802.2_Missense_Mutation_p.H1112D|USP36_ENST00000449938.2_Missense_Mutation_p.H717D	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1110					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.H1112D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTTGCTGGGTGAGTCACAGAC	0.527000													22	95					0	0	0.004656	0	0
UBBP4	23666	broad.mit.edu	37	17	21730961	21730961	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:21730961C>A	ENST00000584755.1	+	2	660	c.263C>A	c.(262-264)aCc>aAc	p.T88N	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.T88N														p.T88N(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ACCGGCAAGACCATCACCCTG	0.532000													3	27					0.00024832	0.000282288	0.009096	1	0
SPATA31D3	389762	broad.mit.edu	37	9	84564680	84564680	+	RNA	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:84564680C>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							CCAGAATTATCCTGCAATGAT	0.483000													4	21					0.000602214	0.000669848	0.014758	1	0
GZMH	2999	broad.mit.edu	37	14	25076845	25076845	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:25076845G>C	ENST00000216338.4	-	3	356	c.312C>G	c.(310-312)aaC>aaG	p.N104K	GZMH_ENST00000382548.4_Missense_Mutation_p.N104K|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000557220.2_Intron|RP11-104E19.1_ENST00000555300.1_RNA	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	104	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	p.N104K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CGTTGGAGAAGTTCTTAGGAT	0.537000													6	173					0	0	0.018920	0	0
SH2D7	646892	broad.mit.edu	37	15	78390402	78390402	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:78390402C>A	ENST00000328828.5	+	3	398	c.398C>A	c.(397-399)cCc>cAc	p.P133H	SH2D7_ENST00000409568.2_5'UTR	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	133	SH2.							p.P133Q(1)		endometrium(2)|kidney(2)|lung(3)	7						CAGCTCGAGCCCTTCAAAGAG	0.622000													3	18					0.00909568	0.00960026	0.009096	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19775907	19775907	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr21:19775907A>T	ENST00000284885.3	-	1	66	c.33T>A	c.(31-33)caT>caA	p.H11Q		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	11					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.H11Q(1)		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						TGAGAGAATGATGCCTAGAAG	0.393000													7	45					0	0	0.003080	0	0
AK9	221264	broad.mit.edu	37	6	109954214	109954214	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:109954214C>A	ENST00000424296.2	-	12	1242	c.1166G>T	c.(1165-1167)gGa>gTa	p.G389V	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.G389V|AK9_ENST00000285397.5_Missense_Mutation_p.G389V	NM_001145128.2	NP_001138600.2			adenylate kinase 9									p.G389V(2)									ACATGGTGGTCCTGGCATAGG	0.363000													15	14					1.5739e-10	2.27585e-10	0.004007	1	0
ABCB5	340273	broad.mit.edu	37	7	20687653	20687653	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:20687653G>T	ENST00000404938.2	+	11	1810	c.1158G>T	c.(1156-1158)gtG>gtT	p.V386V	ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000406935.1_5'UTR|ABCB5_ENST00000477094.1_3'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	570	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.V386V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAGGAACTGTGGAATTTAAAA	0.318000													5	10					8.12818e-05	9.43287e-05	0.001984	1	0
OR4Q3	441669	broad.mit.edu	37	14	20216191	20216191	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:20216191C>A	ENST00000331723.1	+	1	605	c.605C>A	c.(604-606)gCc>gAc	p.A202D		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A202D(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGTGATAGCCAACAGTGGT	0.498000													13	31					0.00010058	0.000116351	0.013537	1	0
POTEC	388468	broad.mit.edu	37	18	14542897	14542897	+	Silent	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:14542897A>G	ENST00000358970.5	-	1	248	c.249T>C	c.(247-249)tcT>tcC	p.S83S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	83								p.S83S(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CATGGTCTCCAGAAGTGCCCA	0.582000													44	107					0	0	0.009718	0	0
KMT2C	58508	broad.mit.edu	37	7	151874238	151874238	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:151874238C>A	ENST00000355193.2	-	38	8518	c.8300G>T	c.(8299-8301)gGa>gTa	p.G2767V	KMT2C_ENST00000262189.6_Missense_Mutation_p.G2767V					lysine (K)-specific methyltransferase 2C									p.G2767V(2)									TTTCTTATCTCCCATGTCAAG	0.348000													18	128					3.52763e-06	4.40497e-06	0.004990	1	0
ANLN	54443	broad.mit.edu	37	7	36464304	36464304	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:36464304A>G	ENST00000265748.2	+	17	2883	c.2662A>G	c.(2662-2664)Aaa>Gaa	p.K888E	ANLN_ENST00000396068.2_Missense_Mutation_p.K851E	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	888	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.K888E(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GGTGCAAAAGAAAGATCCCTC	0.303000													8	23					0	0	0.006214	0	0
NAT8	9027	broad.mit.edu	37	2	73868332	73868332	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:73868332G>C	ENST00000272425.3	-	2	573	c.424C>G	c.(424-426)Ctc>Gtc	p.L142V		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	142	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	p.L142V(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TCCACAAAGAGATGAAACAGC	0.557000													4	81					0	0	0.009096	0	0
RYR2	6262	broad.mit.edu	37	1	237875121	237875121	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:237875121A>T	ENST00000366574.2	+	71	10624	c.10307A>T	c.(10306-10308)aAg>aTg	p.K3436M	RYR2_ENST00000542537.1_Missense_Mutation_p.K3420M|RYR2_ENST00000360064.6_Missense_Mutation_p.K3434M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3436					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.K3434M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTGATACCAAGTCAAAGATG	0.303000													8	19					0	0	0.006214	0	0
CCDC129	223075	broad.mit.edu	37	7	31617894	31617894	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:31617894G>A	ENST00000409210.1	+	6	924	c.740G>A	c.(739-741)tGc>tAc	p.C247Y	CCDC129_ENST00000451887.2_Missense_Mutation_p.C365Y|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.C339Y			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	339								p.C339Y(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CAGTGGCCTTGCTCATCTATG	0.488000													8	61					0	0	0.004482	0	0
UBXN2B	137886	broad.mit.edu	37	8	59347001	59347001	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:59347001T>A	ENST00000399598.2	+	5	593	c.471T>A	c.(469-471)gaT>gaA	p.D157E	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	157	SEP.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		p.D157E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GTTTAGATGATGGAGAATTGA	0.289000													4	50					0	0	0.001168	0	0
DYSF	8291	broad.mit.edu	37	2	71743361	71743361	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:71743361A>G	ENST00000258104.3	+	8	1121	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	DYSF_ENST00000413539.2_Missense_Mutation_p.I313V|DYSF_ENST00000409744.1_Missense_Mutation_p.I283V|DYSF_ENST00000409582.3_Missense_Mutation_p.I313V|DYSF_ENST00000409651.1_Missense_Mutation_p.I314V|DYSF_ENST00000410041.1_Missense_Mutation_p.I314V|DYSF_ENST00000409366.1_Missense_Mutation_p.I283V|DYSF_ENST00000394120.2_Missense_Mutation_p.I283V|DYSF_ENST00000410020.3_Missense_Mutation_p.I314V|DYSF_ENST00000409762.1_Missense_Mutation_p.I313V|DYSF_ENST00000429174.2_Missense_Mutation_p.I282V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	282	C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.I282V(1)|p.I314V(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGATGAGCCCATCTTTATCAC	0.483000													9	43					0	0	0.008291	0	0
FHOD3	80206	broad.mit.edu	37	18	34298531	34298531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:34298531G>A	ENST00000257209.4	+	16	2867	c.2745G>A	c.(2743-2745)tgG>tgA	p.W915*	FHOD3_ENST00000445677.1_Nonsense_Mutation_p.W877*|FHOD3_ENST00000591635.1_Nonsense_Mutation_p.W111*|FHOD3_ENST00000590592.1_Nonsense_Mutation_p.W1090*|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000359247.4_Nonsense_Mutation_p.W898*	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	898	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.W915*(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GTTTGTTCTGGAATGAAGTTC	0.507000													21	75					0	0	0.008871	0	0
BAAT	570	broad.mit.edu	37	9	104124972	104124972	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:104124972T>C	ENST00000259407.2	-	4	1103	c.995A>G	c.(994-996)aAc>aGc	p.N332S	BAAT_ENST00000395051.3_Missense_Mutation_p.N332S	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	332					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	p.N332S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TGCTTTGCTGTTGATAGTCTT	0.478000													5	48					0	0	0.014758	0	0
BRCC3	79184	broad.mit.edu	37	X	154299836	154299836	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:154299836G>T	ENST00000369462.1	+	1	59	c.34G>T	c.(34-36)Gtt>Ttt	p.V12F	BRCC3_ENST00000369459.2_Missense_Mutation_p.V12F|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Missense_Mutation_p.V12F|BRCC3_ENST00000399042.1_Missense_Mutation_p.V12F|BRCC3_ENST00000340647.4_Missense_Mutation_p.V12F	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	12					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.V12F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ggtgcaggcggtTCATCTCGA	0.627000													8	2					5.18039e-06	6.4134e-06	0.003080	1	0
SLC9B1	150159	broad.mit.edu	37	4	103822347	103822347	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:103822347C>A	ENST00000296422.7	-	12	1616	c.1475G>T	c.(1474-1476)gGg>gTg	p.G492V	SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	492						integral to membrane	solute:hydrogen antiporter activity	p.G492V(1)									CATTTTAGGCCCCAGAATGCC	0.423000													8	159					0.00448238	0.00485144	0.004482	1	0
OR2F1	26211	broad.mit.edu	37	7	143657496	143657496	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:143657496G>T	ENST00000392899.1	+	1	470	c.433G>T	c.(433-435)Gcc>Tcc	p.A145S		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A145S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGCTAGGTTGGCCATCACATC	0.527000													8	80					3.09899e-07	4.05166e-07	0.004482	1	0
NBL1	4681	broad.mit.edu	37	1	19983389	19983389	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:19983389G>A	ENST00000375136.3	+	4	616	c.313G>A	c.(313-315)Gtg>Atg	p.V105M	NBL1_ENST00000548815.1_Missense_Mutation_p.V104M|NBL1_ENST00000289749.2_Missense_Mutation_p.V140M|MINOS1-NBL1_ENST00000602662.1_Missense_Mutation_p.V105M	NM_001204085.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	104	CTCK.					extracellular region		p.V104M(1)		lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCACGAGGAGGTGCCCAGGGT	0.642000													8	16					0	0	0.003080	0	0
GLI3	2737	broad.mit.edu	37	7	42004345	42004345	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:42004345C>G	ENST00000395925.3	-	15	4410	c.4326G>C	c.(4324-4326)caG>caC	p.Q1442H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1442					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGTCATAGAACTGACCAGAGT	0.512000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				3	75					0	0	0.004672	0	0
CYP4V2	285440	broad.mit.edu	37	4	187115681	187115681	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:187115681C>G	ENST00000378802.4	+	2	546	c.242C>G	c.(241-243)aCa>aGa	p.T81R		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	81					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.T81R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		ATTGAGTACACAGAGGAATAC	0.443000													18	62					0	0	0.007413	0	0
TRPS1	7227	broad.mit.edu	37	8	116426738	116426738	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:116426738G>C	ENST00000395715.3	-	7	3975	c.3398C>G	c.(3397-3399)tCc>tGc	p.S1133C	TRPS1_ENST00000520276.1_Missense_Mutation_p.S1124C|TRPS1_ENST00000519076.1_Missense_Mutation_p.S874C|TRPS1_ENST00000220888.5_Missense_Mutation_p.S1120C	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1120	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S1133C(1)|p.S1120C(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCCAGGAACGGAGAGCTTATA	0.458000									Langer-Giedion syndrome				3	30					0	0	0.004672	0	0
PAPL	390928	broad.mit.edu	37	19	39591613	39591613	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:39591613C>A	ENST00000331256.5	+	8	1106	c.832C>A	c.(832-834)Cgg>Agg	p.R278R	PAPL_ENST00000594229.1_Silent_p.P236P	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		278						extracellular region	acid phosphatase activity|metal ion binding	p.R278W(1)|p.R278R(1)									CCGGGCAGCCCGGCCGTGGAT	0.627000													54	95					5.2118e-15	8.13851e-15	0.014410	1	0
ZMAT1	84460	broad.mit.edu	37	X	101139127	101139127	+	Silent	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:101139127T>G	ENST00000458570.1	-	9	2089	c.759A>C	c.(757-759)acA>acC	p.T253T	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.T424T|ZMAT1_ENST00000372782.3_Silent_p.T424T			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	253						nucleus	zinc ion binding	p.T424T(1)|p.T253T(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGTTCCTGTGTGTTTCTACAG	0.408000													42	61					0	0	0.013114	0	0
RYR1	6261	broad.mit.edu	37	19	38960040	38960040	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:38960040C>A	ENST00000355481.4	+	27	3783	c.3652C>A	c.(3652-3654)Ctc>Atc	p.L1218I	RYR1_ENST00000360985.3_Missense_Mutation_p.L1218I|RYR1_ENST00000359596.3_Missense_Mutation_p.L1218I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1218	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L1218I(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CATCTGTGGCCTCCAGGAAGG	0.602000													34	222					2.05212e-20	3.37969e-20	0.005524	1	0
CCDC102B	79839	broad.mit.edu	37	18	66504245	66504245	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:66504245A>T	ENST00000360242.5	+	2	362	c.245A>T	c.(244-246)aAg>aTg	p.K82M	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.K82M|CCDC102B_ENST00000358653.5_Missense_Mutation_p.K82M|CCDC102B_ENST00000319445.6_Missense_Mutation_p.K82M	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	82								p.K82M(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GAAGAAGTCAAGGCCAGAGCT	0.473000													28	89					0	0	0.013726	0	0
IL2RA	3559	broad.mit.edu	37	10	6104076	6104076	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:6104076G>A	ENST00000379959.3	-	1	212	c.39C>T	c.(37-39)ttC>ttT	p.F13F	IL2RA_ENST00000379954.1_Silent_p.F13F|IL2RA_ENST00000256876.6_Silent_p.F13F	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	13					cell proliferation	integral to membrane	interleukin-2 receptor activity	p.F13F(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCACCATGATGAACGTGAGCA	0.612000													5	117					0	0	0.001984	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564446	176564446	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:176564446T>A	ENST00000367662.3	+	3	2870	c.1706T>A	c.(1705-1707)gTc>gAc	p.V569D	PAPPA2_ENST00000367661.3_Missense_Mutation_p.V569D	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	569	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.V569D(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGCTGAGCGTCCACCAGGTC	0.572000													11	66					0	0	0.008291	0	0
OR10G9	219870	broad.mit.edu	37	11	123893726	123893726	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:123893726A>T	ENST00000375024.1	+	1	7	c.7A>T	c.(7-9)Aag>Tag	p.K3*		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K3*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGAAATGTCCAAGACCAGCCT	0.517000													21	117					0	0	0.010504	0	0
KL	9365	broad.mit.edu	37	13	33628269	33628269	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:33628269G>C	ENST00000380099.3	+	2	1193	c.1185G>C	c.(1183-1185)agG>agC	p.R395S	KL_ENST00000426690.2_Missense_Mutation_p.R88S|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	395	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.R395S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCAACCTGAGGCAACTGCTTT	0.443000													28	145					0	0	0.007291	0	0
ZNF81	347344	broad.mit.edu	37	X	47775135	47775135	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:47775135G>T	ENST00000376954.1	+	6	1458	c.1090G>T	c.(1090-1092)Ggg>Tgg	p.G364W	ZNF81_ENST00000338637.7_Missense_Mutation_p.G364W			P51508	ZNF81_HUMAN	zinc finger protein 81	364						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G364W(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CAATGAATGTGGGAAATCATT	0.383000													7	16					1.06961e-07	1.42681e-07	0.003080	1	0
FAT2	2196	broad.mit.edu	37	5	150905491	150905491	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:150905491C>T	ENST00000261800.5	-	17	10356	c.10344G>A	c.(10342-10344)ctG>ctA	p.L3448L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3448	Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.L3448L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTCAGGATCAGCTGCAGGA	0.562000													8	38					0	0	0.004482	0	0
FOXC2	2303	broad.mit.edu	37	16	86601062	86601062	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:86601062T>C	ENST00000320354.4	+	1	206	c.121T>C	c.(121-123)Tat>Cat	p.Y41H	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	41					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	p.Y41H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CATGGGCGTCTATTCCGGCCA	0.701000									Late-onset Hereditary Lymphedema				10	17					0	0	0.006214	0	0
CACNA1C	775	broad.mit.edu	37	12	2778097	2778097	+	Splice_Site	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:2778097A>T	ENST00000399655.1	+	38	4888		c.e38-1		CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000347598.4_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site	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						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	p.?(5)		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)	CTTCGCCTGCAGCGCCTGGTC	0.577000													17	101					0	0	0.004007	0	0
ZFP64	55734	broad.mit.edu	37	20	50781293	50781293	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:50781293C>T	ENST00000216923.4	-	4	801	c.452G>A	c.(451-453)tGc>tAc	p.C151Y	ZFP64_ENST00000371515.4_Missense_Mutation_p.C149Y|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000346617.4_Missense_Mutation_p.C97Y|ZFP64_ENST00000371518.2_Missense_Mutation_p.C151Y|ZFP64_ENST00000361387.2_Missense_Mutation_p.C151Y	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C151F(3)|p.C151Y(3)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTGAATTGGCAACCTAAAAA	0.378000													6	25					0	0	0.004482	0	0
SCN2A	6326	broad.mit.edu	37	2	166170433	166170433	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:166170433A>G	ENST00000375437.2	+	10	1488	c.1198A>G	c.(1198-1200)Acg>Gcg	p.T400A	SCN2A_ENST00000283256.6_Missense_Mutation_p.T400A|SCN2A_ENST00000357398.3_Missense_Mutation_p.T400A|SCN2A_ENST00000375427.2_Missense_Mutation_p.T400A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	400					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T400A(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGCTGGGAAAACGTACATGAT	0.348000													13	40					0	0	0.003163	0	0
ANK2	287	broad.mit.edu	37	4	114208779	114208779	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:114208779C>T	ENST00000357077.4	+	19	2151	c.2098C>T	c.(2098-2100)Cac>Tac	p.H700Y	ANK2_ENST00000264366.6_Missense_Mutation_p.H700Y|ANK2_ENST00000506722.1_Missense_Mutation_p.H679Y|ANK2_ENST00000394537.3_Missense_Mutation_p.H700Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	700					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.H700Y(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACATCCTTACACCTTGCAGC	0.378000													10	34					0	0	0.010729	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89266063	89266063	+	RNA	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:89266063G>T	ENST00000464162.1	-	0	97																											TCATCTGGATGGCACATCTGG	0.473000													71	231					5.88917e-42	1.03598e-41	0.014410	1	0
DCHS2	54798	broad.mit.edu	37	4	155295093	155295093	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:155295093C>A	ENST00000357232.3	-	4	440	c.441G>T	c.(439-441)atG>atT	p.M147I	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	147	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.M147I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTAAATGTGTCATTCTCTGCT	0.338000													8	32					6.40141e-05	7.48903e-05	0.010729	1	0
CR1L	1379	broad.mit.edu	37	1	207867945	207867945	+	Silent	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:207867945T>C	ENST00000508064.2	+	5	771	c.711T>C	c.(709-711)aaT>aaC	p.N237N	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	237	Sushi 4.					cytoplasm|extracellular region|membrane		p.N245N(1)|p.N237N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATGTGGAAAATGGAATATTGG	0.463000													91	316					0	0	0.014410	0	0
CLSTN2	64084	broad.mit.edu	37	3	140281150	140281150	+	Splice_Site	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:140281150G>T	ENST00000458420.3	+	13	2402	c.2212_splice	c.e13+1	p.G738_splice		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	738					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.G738C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CTCCATCTACGGTAAGGCCAC	0.552000										HNSCC(16;0.037)			6	36					3.59834e-05	4.27192e-05	0.001168	1	0
METTL23	124512	broad.mit.edu	37	17	74729667	74729667	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:74729667G>T	ENST00000341249.6	+	5	804	c.472G>T	c.(472-474)Gag>Tag	p.E158*	METTL23_ENST00000588822.1_Nonsense_Mutation_p.E91*|METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000586738.1_3'UTR|METTL23_ENST00000590964.1_Nonsense_Mutation_p.E91*|METTL23_ENST00000588302.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000586200.1_Nonsense_Mutation_p.E39*|METTL23_ENST00000586752.1_Nonsense_Mutation_p.E91*|METTL23_ENST00000591571.1_3'UTR	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	158						integral to membrane	methyltransferase activity	p.E158*(1)		large_intestine(2)|lung(1)	3						CATTCCTCTTGAGTCTTTTGA	0.383000													51	164					5.57489e-27	9.52872e-27	0.014410	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105360858	105360858	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:105360858G>T	ENST00000297581.2	+	2	127	c.78G>T	c.(76-78)tgG>tgT	p.W26C	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.W26C|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	26					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.W26Y(1)|p.W26*(1)									GCCCCGGATGGATGGACTTTA	0.498000													36	145					4.65686e-17	7.39981e-17	0.017118	1	0
C3orf62	375341	broad.mit.edu	37	3	49308858	49308858	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:49308858T>C	ENST00000343010.3	-	3	1595	c.559A>G	c.(559-561)Att>Gtt	p.I187V		NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	187								p.I187V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AATTCTTCAATAGTTCGGATG	0.393000													10	116					0	0	0.006214	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58253451	58253451	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:58253451C>A	ENST00000249750.4	-	11	2060	c.1293G>T	c.(1291-1293)atG>atT	p.M431I	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.M410I|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.M335I|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.M402I|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.M393I	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	431					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.M431I(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TAACTTCATCCATCGTCTTAA	0.413000													3	32					0.00024832	0.000282288	0.009096	1	0
OR6N1	128372	broad.mit.edu	37	1	158736121	158736121	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:158736121T>C	ENST00000335094.2	-	1	371	c.352A>G	c.(352-354)Atg>Gtg	p.M118V		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M118V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TCGTAGGCCATAGCTGTCAGG	0.507000													6	48					0	0	0.001168	0	0
FCGBP	8857	broad.mit.edu	37	19	40412002	40412002	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:40412002C>G	ENST00000221347.6	-	7	3633	c.3626G>C	c.(3625-3627)gGa>gCa	p.G1209A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1209	Cys-rich.					extracellular region	protein binding	p.G1209A(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGAATCACATCCGGGGCCAGG	0.667000													37	69					0	0	0.021022	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965971	35965971	+	Missense_Mutation	SNP	T	T	A	rs144943338		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:35965971T>A	ENST00000274278.3	-	4	717	c.360A>T	c.(358-360)caA>caT	p.Q120H	UGT3A1_ENST00000507113.1_Missense_Mutation_p.Q86H|UGT3A1_ENST00000503189.1_Missense_Mutation_p.Q120H|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.Q66H	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	120						integral to membrane	glucuronosyltransferase activity	p.Q120H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATAACTACATTGAGTCCCAA	0.294000													8	61					0	0	0.008291	0	0
TNR	7143	broad.mit.edu	37	1	175372466	175372466	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:175372466C>T	ENST00000367674.1	-	4	1494	c.786G>A	c.(784-786)agG>agA	p.R262R	TNR_ENST00000263525.2_Silent_p.R262R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	262	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R262R(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCTCAGTTCCCTGCAGTCCT	0.637000													13	35					0	0	0.016723	0	0
ZNF547	284306	broad.mit.edu	37	19	57888789	57888789	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:57888789G>T	ENST00000282282.3	+	4	595	c.445G>T	c.(445-447)Gtt>Ttt	p.V149F	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V149F(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAACCACAGAGTTCACATGGC	0.463000													16	34					3.57192e-18	5.79036e-18	0.006122	1	0
MAGI2	9863	broad.mit.edu	37	7	78150963	78150963	+	Splice_Site	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:78150963C>A	ENST00000354212.4	-	4	792		c.e4-1		MAGI2_ENST00000419488.1_Splice_Site|MAGI2_ENST00000536571.1_Splice_Site|MAGI2_ENST00000522391.1_Splice_Site|MAGI2_ENST00000517762.1_5'UTR|MAGI2_ENST00000535697.1_Splice_Site	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2							cell junction|synapse|synaptosome	phosphatase binding	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAGTAATTGTCTGCAAACAAT	0.368000													26	137					9.57634e-11	1.3903e-10	0.018920	1	0
NAV3	89795	broad.mit.edu	37	12	78334186	78334186	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:78334186G>T	ENST00000397909.2	+	2	504	c.331G>T	c.(331-333)Gta>Tta	p.V111L	NAV3_ENST00000266692.7_Missense_Mutation_p.V111L|NAV3_ENST00000228327.6_Missense_Mutation_p.V111L|NAV3_ENST00000536525.2_Missense_Mutation_p.V111L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	111	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.V111L(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGCAGATGGAGTACTCCTAGC	0.448000										HNSCC(70;0.22)			29	40					1.55811e-20	2.57195e-20	0.008361	1	0
IL23R	149233	broad.mit.edu	37	1	67724401	67724401	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:67724401G>A	ENST00000347310.5	+	11	1651	c.1480G>A	c.(1480-1482)Gag>Aag	p.E494K	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.E239K|IL23R_ENST00000473881.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	494					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	p.E494K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTTTCTGCCTGAGGGAAGCCA	0.373000													30	33					0	0	0.009535	0	0
HEY2	23493	broad.mit.edu	37	6	126080786	126080786	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:126080786G>T	ENST00000368364.3	+	5	1049	c.852G>T	c.(850-852)ggG>ggT	p.G284G	HEY2_ENST00000368365.1_Silent_p.G238G	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	284	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	p.G284G(1)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCTTCGCGGGGGCATTCCCCA	0.662000													74	126					8.29215e-51	1.46583e-50	0.014410	1	0
ASTN1	460	broad.mit.edu	37	1	176915133	176915133	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:176915133C>A	ENST00000367654.2	-	13	2215	c.2202G>T	c.(2200-2202)ggG>ggT	p.G734G	ASTN1_ENST00000361833.2_Silent_p.G726G|ASTN1_ENST00000424564.2_Silent_p.G726G|ASTN1_ENST00000367657.3_Silent_p.G726G|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	734					cell migration|neuron cell-cell adhesion	integral to membrane		p.G726G(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGAACATCTCCCCAAAGAGGG	0.502000													24	98					1.85244e-09	2.62097e-09	0.018920	1	0
HYDIN	54768	broad.mit.edu	37	16	70975570	70975570	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:70975570C>A	ENST00000393567.2	-	43	6972	c.6822G>T	c.(6820-6822)aaG>aaT	p.K2274N		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2274								p.K2273N(1)|p.K2225N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCTCCTGGGCCTTCATGGCTG	0.532000													20	142					1.55795e-14	2.41716e-14	0.012319	1	0
RALYL	138046	broad.mit.edu	37	8	85799926	85799926	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:85799926C>G	ENST00000521268.1	+	8	1878	c.773C>G	c.(772-774)cCt>cGt	p.P258R	RALYL_ENST00000522455.1_Missense_Mutation_p.P258R|RALYL_ENST00000518566.1_Missense_Mutation_p.P247R|RALYL_ENST00000523850.1_Missense_Mutation_p.P185R|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000521695.1_Missense_Mutation_p.P258R|RALYL_ENST00000517638.1_Missense_Mutation_p.P271R	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	258							identical protein binding|nucleotide binding|RNA binding	p.P258S(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ACAGAGGAGCCTGCTGAAGGA	0.512000													28	72					0	0	0.006320	0	0
OR8B8	26493	broad.mit.edu	37	11	124310801	124310801	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:124310801A>T	ENST00000328064.2	-	1	253	c.181T>A	c.(181-183)Ttc>Atc	p.F61I		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F61I(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGAGGAAGAAGTACATAGGG	0.443000													14	50					0	0	0.016723	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105360857	105360857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:105360857G>A	ENST00000297581.2	+	2	126	c.77G>A	c.(76-78)tGg>tAg	p.W26*	DCSTAMP_ENST00000517991.1_Nonsense_Mutation_p.W26*|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	26					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.W26Y(1)									AGCCCCGGATGGATGGACTTT	0.493000													36	146					0	0	0.017118	0	0
SIRT4	23409	broad.mit.edu	37	12	120741852	120741852	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:120741852G>T	ENST00000202967.4	+	2	547	c.488G>T	c.(487-489)tGc>tTc	p.C163F	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	163	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	p.C163F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCACGGATGCATGGACAGG	0.547000													4	64					0.00909568	0.00960026	0.009096	1	0
RARB	5915	broad.mit.edu	37	3	25622075	25622075	+	Silent	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:25622075C>G	ENST00000330688.4	+	5	1069	c.648C>G	c.(646-648)ggC>ggG	p.G216G	RARB_ENST00000458646.1_Silent_p.G104G|RARB_ENST00000404969.1_Silent_p.G223G|RARB_ENST00000437042.2_Silent_p.G104G|RARB_ENST00000462272.1_3'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	223	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.G223G(1)|p.G216G(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGGACCTGGGCCTCTGGGACA	0.498000													12	80					0	0	0.016723	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530357	80530357	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:80530357C>A	ENST00000295057.3	-	2	1244	c.588G>T	c.(586-588)caG>caT	p.Q196H	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.Q196H|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	196						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.Q196H(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GACTCTTGAGCTGATTGTATC	0.572000										HNSCC(69;0.2)			7	102					2.0095e-06	2.54443e-06	0.001984	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95514947	95514947	+	RNA	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:95514947G>T	ENST00000432432.2	-	0	710					NR_040113.1													p.R201R(1)									CTACTGTACCGTCTCAGCCTA	0.308000													21	148					2.4624e-09	3.47039e-09	0.008871	1	0
DDX43	55510	broad.mit.edu	37	6	74123509	74123509	+	Splice_Site	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:74123509G>T	ENST00000370336.4	+	12	1654		c.e12+1		MB21D1_ENST00000370318.1_3'UTR|DDX43_ENST00000479773.1_Splice_Site	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GAAAAGCTGTGTAGGTATTTT	0.343000													18	17					1.67942e-08	2.29965e-08	0.006122	1	0
KLHL40	131377	broad.mit.edu	37	3	42730470	42730470	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:42730470C>T	ENST00000287777.4	+	4	1631	c.1531C>T	c.(1531-1533)Cgc>Tgc	p.R511C		NM_152393.2	NP_689606.2			kelch-like family member 40									p.R511C(1)									CCATGATGGCCGCATTATCGT	0.562000													9	44					0	0	0.004482	0	0
ACAA2	10449	broad.mit.edu	37	18	47329193	47329193	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:47329193G>C	ENST00000285093.10	-	2	522	c.47C>G	c.(46-48)cCc>cGc	p.P16R	ACAA2_ENST00000589432.1_5'UTR|ACAA2_ENST00000587994.1_Missense_Mutation_p.P13R|RP11-886H22.1_ENST00000590532.2_3'UTR	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	16					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding	p.P16R(1)		large_intestine(2)|lung(7)|ovary(1)	10						AGCTCCAAAGGGCGTTCGCTT	0.448000													11	52					0	0	0.003163	0	0
ZBBX	79740	broad.mit.edu	37	3	167045743	167045743	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:167045743A>T	ENST00000392766.2	-	11	1189	c.849T>A	c.(847-849)caT>caA	p.H283Q	ZBBX_ENST00000307529.5_Missense_Mutation_p.H283Q|ZBBX_ENST00000455345.2_Missense_Mutation_p.H283Q|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.H254Q|ZBBX_ENST00000392767.2_Missense_Mutation_p.H283Q	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	283						intracellular	zinc ion binding	p.H283Q(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTACTGCTGCATGTAAATTCT	0.413000													10	59					0	0	0.006214	0	0
RIMS2	9699	broad.mit.edu	37	8	104778725	104778725	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:104778725G>T	ENST00000406091.3	+	3	658	c.658G>T	c.(658-660)Ggc>Tgc	p.G220C		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	251					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G220C(1)|p.G256C(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAATGGGTCAGGCGTGAAGCA	0.418000										HNSCC(12;0.0054)			10	44					1.58986e-06	2.02016e-06	0.008291	1	0
AMPH	273	broad.mit.edu	37	7	38462040	38462040	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:38462040T>A	ENST00000356264.2	-	16	1468	c.1253A>T	c.(1252-1254)cAg>cTg	p.Q418L	AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000325590.5_Missense_Mutation_p.Q418L|AMPH_ENST00000428293.2_Missense_Mutation_p.Q418L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	418					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.Q418L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GATCATACTCTGGTCTGTCTG	0.353000													8	235					0	0	0.004482	0	0
KIF1B	23095	broad.mit.edu	37	1	10355764	10355764	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:10355764G>T	ENST00000377086.1	+	19	1919	c.1717G>T	c.(1717-1719)Ggg>Tgg	p.G573W	KIF1B_ENST00000377081.1_Missense_Mutation_p.G573W|KIF1B_ENST00000377083.1_Missense_Mutation_p.G527W|KIF1B_ENST00000377093.4_Missense_Mutation_p.G527W|KIF1B_ENST00000263934.6_Missense_Mutation_p.G527W			O60333	KIF1B_HUMAN	kinesin family member 1B	573	FHA.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.G527W(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGTGCTGAGCGGGGCTCACAT	0.507000													13	61					0.000308642	0.000348669	0.003163	1	0
CDS1	1040	broad.mit.edu	37	4	85560132	85560132	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:85560132T>A	ENST00000295887.5	+	9	1289	c.866T>A	c.(865-867)gTg>gAg	p.V289E		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	289					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	p.V289E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TCCACAGTTGTGTTTGGATTC	0.299000													9	20					0	0	0.006214	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532226	40532226	+	Nonsense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:40532226T>A	ENST00000297737.6	-	5	720	c.574A>T	c.(574-576)Aga>Tga	p.R192*	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	192						nucleus	DNA binding|zinc ion binding	p.R192*(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CCCTTACCTCTCAGTTCCCCC	0.448000													27	73					0	0	0.006320	0	0
CENPA	1058	broad.mit.edu	37	2	27016122	27016122	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:27016122G>T	ENST00000335756.4	+	4	598	c.398G>T	c.(397-399)cGg>cTg	p.R133L	CENPA_ENST00000233505.8_Missense_Mutation_p.R107L|CENPA_ENST00000475662.1_3'UTR	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	133	H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding	p.R133L(1)		endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGAGGATCCGGGGCCTTGAG	0.557000													88	188					5.5301e-39	9.65763e-39	0.014410	1	0
GABRB3	2562	broad.mit.edu	37	15	26866615	26866615	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:26866615G>T	ENST00000541819.2	-	5	577	c.475C>A	c.(475-477)Cct>Act	p.P159T	GABRB3_ENST00000545868.1_Missense_Mutation_p.P18T|GABRB3_ENST00000400188.3_Missense_Mutation_p.P32T|GABRB3_ENST00000299267.4_Missense_Mutation_p.P103T|GABRB3_ENST00000311550.5_Missense_Mutation_p.P103T			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	103					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.P103T(2)|p.P159T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGGTTGAGAGGGATCCCAGAA	0.418000													17	55					5.35267e-07	6.92304e-07	0.007413	1	0
EFCC1	79825	broad.mit.edu	37	3	128758690	128758690	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:128758690G>A	ENST00000436022.2	+	8	1796	c.485G>A	c.(484-486)tGa>tAa	p.*162*	EFCC1_ENST00000480450.1_Silent_p.*599*	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1									p.*162*(1)|p.*599*(1)									GTCTCCTGCTGAGGTTACTGG	0.647000													7	47					0	0	0.006214	0	0
SEC23A	10484	broad.mit.edu	37	14	39543704	39543704	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:39543704T>C	ENST00000537403.1	-	5	1614	c.412A>G	c.(412-414)Aca>Gca	p.T138A	SEC23A_ENST00000307712.6_Missense_Mutation_p.T340A|SEC23A_ENST00000545328.2_Missense_Mutation_p.T311A|SEC23A_ENST00000536508.1_Missense_Mutation_p.T214A			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	340					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	p.T340A(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TGGCCAGTTGTAGCAGCTCGA	0.338000													71	61					0	0	0.014410	0	0
ERCC4	2072	broad.mit.edu	37	16	14028125	14028125	+	Silent	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:14028125A>T	ENST00000311895.7	+	7	1188	c.1179A>T	c.(1177-1179)gcA>gcT	p.A393A	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	393					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	p.A393A(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AAATTGAGGCAGAAAATAAGG	0.368000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				40	115					0	0	0.008740	0	0
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103261150	103261150	+	Missense_Mutation	SNP	A	A	G	rs150250818		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:103261150A>G	ENST00000502978.1	+	2	190	c.190A>G	c.(190-192)Att>Gtt	p.I64V	TMEFF1_ENST00000374879.4_Silent_p.Q100Q|TMEFF1_ENST00000334943.6_Silent_p.Q61Q	NM_001198812.1	NP_001185741.1	Q8IYR6	TEFF1_HUMAN		0					multicellular organismal development	integral to membrane|plasma membrane		p.Q100Q(1)									GTGCATGCCAATTTCAGGTGA	0.338000													25	37					0	0	0.021523	0	0
C1orf141	400757	broad.mit.edu	37	1	67559010	67559010	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:67559010T>A	ENST00000371007.2	-	8	990	c.881A>T	c.(880-882)gAt>gTt	p.D294V	C1orf141_ENST00000544837.1_Missense_Mutation_p.D294V|C1orf141_ENST00000371006.1_Missense_Mutation_p.D294V	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	294								p.D294V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TAGTTTATCATCTACAGTTGT	0.333000													29	29					0	0	0.006320	0	0
SCARNA2	677766	broad.mit.edu	37	1	109643075	109643075	+	RNA	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:109643075G>T	ENST00000458748.1	+	0	261					NR_003023.1																						GCCCCCTCGGGGCGCTGTGCA	0.657000													3	16					6.4e-05	7.48903e-05	0.004672	1	0
GRIA1	2890	broad.mit.edu	37	5	153065836	153065836	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:153065836C>A	ENST00000285900.5	+	8	1424	c.1081C>A	c.(1081-1083)Cgg>Agg	p.R361R	GRIA1_ENST00000518142.1_Silent_p.R281R|GRIA1_ENST00000521843.2_Silent_p.R292R|GRIA1_ENST00000448073.4_Silent_p.R371R|GRIA1_ENST00000340592.5_Silent_p.R361R|GRIA1_ENST00000518783.1_Silent_p.R371R	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	361					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.R361R(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAAGGACGCCGGACCAACTA	0.468000													26	65					1.7881e-09	2.53988e-09	0.008361	1	0
BIRC6	57448	broad.mit.edu	37	2	32689617	32689617	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:32689617C>T	ENST00000421745.2	+	25	5116	c.4982C>T	c.(4981-4983)gCa>gTa	p.A1661V		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1661	Poly-Ala.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.A1661V(1)|p.A1633V(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					Acaacagctgcagcagctgca	0.458000													6	8					0	0	0.001168	0	0
CEP152	22995	broad.mit.edu	37	15	49036530	49036530	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:49036530C>A	ENST00000380950.2	-	24	3929	c.3742G>T	c.(3742-3744)Gca>Tca	p.A1248S	CEP152_ENST00000399334.3_Missense_Mutation_p.A1192S|CEP152_ENST00000325747.5_Missense_Mutation_p.A1155S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1192					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.A1192S(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ATGGCCCCTGCTGACAATGAC	0.338000													6	30					8.12818e-05	9.43287e-05	0.001984	1	0
C7orf34	135927	broad.mit.edu	37	7	142637531	142637531	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:142637531C>A	ENST00000409607.3	+	2	342	c.301C>A	c.(301-303)Cag>Aag	p.Q101K		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	76						extracellular region		p.Q76K(1)|p.Q101K(1)		large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					GGAAGAAGACCAGTCGTCCAA	0.542000													47	67					3.76525e-18	6.0765e-18	0.014410	1	0
COL11A1	1301	broad.mit.edu	37	1	103352408	103352408	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:103352408G>T	ENST00000358392.2	-	63	5166	c.4849C>A	c.(4849-4851)Cga>Aga	p.R1617R	COL11A1_ENST00000370096.3_Silent_p.R1605R|COL11A1_ENST00000512756.1_Silent_p.R1489R|COL11A1_ENST00000353414.4_Silent_p.R1566R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1605	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.R1605R(1)|p.R1617R(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTACAAGTTCGGGCTGGATTG	0.428000													3	85					6.4e-05	7.48903e-05	0.004672	1	0
MED30	90390	broad.mit.edu	37	8	118540906	118540906	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:118540906C>G	ENST00000297347.3	+	2	358	c.194C>G	c.(193-195)aCt>aGt	p.T65S	MED30_ENST00000522839.1_Missense_Mutation_p.T65S	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	65					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.T65S(1)		kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			AATGGTGTCACTTACCACACT	0.338000													14	27					0	0	0.016723	0	0
FGFBP2	83888	broad.mit.edu	37	4	15964478	15964478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:15964478C>T	ENST00000259989.6	-	1	381	c.275G>A	c.(274-276)tGg>tAg	p.W92*	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	92						extracellular space	growth factor binding	p.W92*(1)		central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGCTTGATTCCAGTAAGGTTT	0.637000													13	48					0	0	0.016723	0	0
EMR1	2015	broad.mit.edu	37	19	6921732	6921732	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:6921732G>T	ENST00000312053.4	+	14	1666	c.1629G>T	c.(1627-1629)caG>caT	p.Q543H	EMR1_ENST00000250572.8_Missense_Mutation_p.Q543H|EMR1_ENST00000381407.5_Missense_Mutation_p.Q402H|EMR1_ENST00000381404.4_Missense_Mutation_p.Q491H|EMR1_ENST00000450315.3_Missense_Mutation_p.Q366H	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	543	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.Q543H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGCCAAAGCAGAAGTTTGAGA	0.428000													4	23					0.00909568	0.00960026	0.009096	1	0
CDK17	5128	broad.mit.edu	37	12	96692734	96692734	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:96692734T>C	ENST00000261211.3	-	7	1231	c.628A>G	c.(628-630)Aga>Gga	p.R210G	CDK17_ENST00000543119.2_Missense_Mutation_p.R210G|CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Missense_Mutation_p.R157G	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	210	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity	p.R210G(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						AATTTACTTCTTCCTTTATAT	0.308000													17	57					0	0	0.006122	0	0
STARD4	134429	broad.mit.edu	37	5	110843034	110843034	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:110843034T>A	ENST00000296632.3	-	2	232	c.98A>T	c.(97-99)aAg>aTg	p.K33M	STARD4_ENST00000512160.1_Missense_Mutation_p.K33M|STARD4_ENST00000509887.1_Missense_Mutation_p.K33M|STARD4_ENST00000502322.1_Missense_Mutation_p.K33M|STARD4_ENST00000511569.1_Intron	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	33	START.				lipid transport		lipid binding	p.K33M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TACCGTTTTCTTAGCAACTCG	0.328000													5	32					0	0	0.014758	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399291	90399291	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:90399291G>T	ENST00000337338.5	+	3	1071	c.664G>T	c.(664-666)Gag>Tag	p.E222*	LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.E222*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	222						integral to membrane	protein binding	p.E222*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CGAAGACTCAGAGGAAAACAA	0.443000													33	50					8.4185e-14	1.28953e-13	0.012213	1	0
UBE2M	9040	broad.mit.edu	37	19	59067459	59067459	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:59067459T>A	ENST00000253023.3	-	6	1127	c.549A>T	c.(547-549)aaA>aaT	p.K183N		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	183					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity	p.K183N(1)		large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GCCAACCCTATTTCAGGCAGC	0.627000													4	22					0	0	0.009096	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785468	1785468	+	Splice_Site	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:1785468C>A	ENST00000539485.1	-	26	3656	c.3423_splice	c.e26+1	p.E1141_splice	ATP8B3_ENST00000525591.1_Splice_Site_p.E1094_splice|ATP8B3_ENST00000310127.6_Splice_Site_p.E1131_splice			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1131					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.E1141D(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		CCTTGCCCACCTCCATGGTGA	0.667000													4	23					0.00909568	0.00960026	0.009096	1	0
FLG2	388698	broad.mit.edu	37	1	152326608	152326608	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:152326608C>A	ENST00000388718.5	-	3	3726	c.3654G>T	c.(3652-3654)ttG>ttT	p.L1218F	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1218	Ser-rich.						calcium ion binding|structural molecule activity	p.L1218_G1219>FC(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCCTGGCCCAAGCCAGTTG	0.458000													55	147					4.6707e-30	8.05946e-30	0.014410	1	0
RP1L1	94137	broad.mit.edu	37	8	10466378	10466378	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:10466378C>A	ENST00000382483.3	-	4	5453	c.5230G>T	c.(5230-5232)Gag>Tag	p.E1744*		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1744					intracellular signal transduction			p.E1744*(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCGCCATCCTCACCCTCGTCC	0.632000													32	103					6.00712e-18	9.65144e-18	0.012213	1	0
FARP2	9855	broad.mit.edu	37	2	242429445	242429445	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:242429445C>G	ENST00000264042.3	+	22	2660	c.2490C>G	c.(2488-2490)atC>atG	p.I830M		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	830	PH 1.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.I830M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGAAAACAATCGTGGTGGCAG	0.557000													14	38					0	0	0.003163	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53686885	53686885	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:53686885T>G	ENST00000262135.4	-	15	1807	c.1714A>C	c.(1714-1716)Att>Ctt	p.I572L	RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.I572L|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.I572L|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.I572L	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	572					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.I572L(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CCATAGGCAATATCCTTTAAT	0.368000													5	64					0	0	0.014758	0	0
ZNF366	167465	broad.mit.edu	37	5	71757220	71757220	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:71757220C>A	ENST00000318442.5	-	2	594	c.104G>T	c.(103-105)cGg>cTg	p.R35L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R35L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGCCTTTCCCCGAGAAGCCAC	0.562000													15	49					0.0202918	0.0211702	0.020292	1	0
KCNH3	23416	broad.mit.edu	37	12	49937199	49937199	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:49937199A>G	ENST00000257981.6	+	5	981	c.721A>G	c.(721-723)Act>Gct	p.T241A	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	241					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.T241A(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TGTGGCTGTCACTGTGCCCTA	0.647000													15	28					0	0	0.020292	0	0
GCKR	2646	broad.mit.edu	37	2	27730148	27730148	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:27730148G>T	ENST00000264717.2	+	13	1176	c.1113G>T	c.(1111-1113)atG>atT	p.M371I	GCKR_ENST00000424318.2_Missense_Mutation_p.M181I	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	371	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	p.M371I(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					ACAGTGACATGTTTAACCAGA	0.493000													39	372					3.21399e-22	5.37898e-22	0.021022	1	0
TTN	7273	broad.mit.edu	37	2	179434299	179434299	+	Silent	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:179434299T>A	ENST00000589042.1	-	326	76784	c.76560A>T	c.(76558-76560)atA>atT	p.I25520I	TTN_ENST00000460472.2_Silent_p.I16455I|TTN_ENST00000342175.6_Silent_p.I16647I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.I16580I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.I23879I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.I22952I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23879	Fibronectin type-III 85.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I22952N(1)|p.I16647N(1)|p.I16580N(1)|p.I22950N(1)|p.I16455N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCTTATATTTATGATTTTCC	0.413000													5	29					0	0	0.014758	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282384	52282384	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:52282384C>A	ENST00000301190.6	+	2	405	c.178C>A	c.(178-180)Ctg>Atg	p.L60M	ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_5'UTR|ANKRD33_ENST00000547119.1_3'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0								p.L60M(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GACTCACCTTCTGGTTCCCTG	0.597000													6	71					0.00116845	0.00128582	0.001168	1	0
SNTG1	54212	broad.mit.edu	37	8	51449349	51449349	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:51449349C>A	ENST00000522124.1	+	11	1322	c.661C>A	c.(661-663)Ccc>Acc	p.P221T	SNTG1_ENST00000517473.1_Missense_Mutation_p.P221T|SNTG1_ENST00000518864.1_Missense_Mutation_p.P221T|SNTG1_ENST00000276467.5_Missense_Mutation_p.P221T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	221					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.P221T(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCAGTATGTGCCCGGCACAGA	0.473000													42	286					5.2432e-18	8.44284e-18	0.014410	1	0
CADPS	8618	broad.mit.edu	37	3	62739249	62739249	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:62739249C>G	ENST00000383710.4	-	3	1104	c.755G>C	c.(754-756)cGg>cCg	p.R252P	CADPS_ENST00000490353.2_Missense_Mutation_p.R252P|CADPS_ENST00000283269.9_Missense_Mutation_p.R252P|CADPS_ENST00000357948.3_Missense_Mutation_p.R252P	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	252					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTGCTGCTTCCGCGGGTCCTC	0.567000													18	52					0	0	0.008871	0	0
GPR112	139378	broad.mit.edu	37	X	135429849	135429849	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:135429849G>A	ENST00000394143.1	+	6	4275	c.3984G>A	c.(3982-3984)ttG>ttA	p.L1328L	GPR112_ENST00000287534.4_Silent_p.L1265L|GPR112_ENST00000370652.1_Silent_p.L1328L|GPR112_ENST00000412101.1_Silent_p.L1123L|GPR112_ENST00000394141.1_Silent_p.L1123L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1328					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L1328L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATGGAAATTTGGCTTCATCTC	0.443000													37	22					0	0	0.017118	0	0
PCK1	5105	broad.mit.edu	37	20	56139650	56139650	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:56139650T>A	ENST00000319441.4	+	8	1463	c.1299T>A	c.(1297-1299)ttT>ttA	p.F433L	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Missense_Mutation_p.F116L	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	433					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.F433L(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GCATTATCTTTGGAGGCCGTA	0.562000													22	135					0	0	0.014323	0	0
HERC2	8924	broad.mit.edu	37	15	28474639	28474639	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr15:28474639C>A	ENST00000261609.7	-	33	5195	c.5087G>T	c.(5086-5088)tGg>tTg	p.W1696L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1696					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.W1696L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGTCTTTGCCATCCACAAAA	0.388000													14	81					1.36491e-13	2.08632e-13	0.016723	1	0
ANKRD35	148741	broad.mit.edu	37	1	145561885	145561885	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:145561885C>G	ENST00000355594.4	+	10	1660	c.1573C>G	c.(1573-1575)Ccc>Gcc	p.P525A		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	525								p.P525A(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGGGGACTCCCCGTGCTGA	0.617000													19	258					0	0	0.010504	0	0
MTUS1	57509	broad.mit.edu	37	8	17612649	17612649	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:17612649T>A	ENST00000381869.3	-	2	1141	c.668A>T	c.(667-669)tAt>tTt	p.Y223F	MTUS1_ENST00000262102.6_Missense_Mutation_p.Y223F|MTUS1_ENST00000519263.1_Missense_Mutation_p.Y223F|MTUS1_ENST00000381862.3_Missense_Mutation_p.Y223F	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	223						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		p.Y223F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTCTCTATCATAAGTAGTTTC	0.418000													5	130					0	0	0.001984	0	0
FAR2	55711	broad.mit.edu	37	12	29474839	29474839	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:29474839G>A	ENST00000182377.4	+	10	1507	c.1239G>A	c.(1237-1239)ctG>ctA	p.L413L	FAR2_ENST00000536681.2_Silent_p.L413L|FAR2_ENST00000547116.1_Silent_p.L316L	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	413					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	p.L413L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TGTCTGAGCTGAGTCCTGAAG	0.403000													13	59					0	0	0.016723	0	0
CLN5	1203	broad.mit.edu	37	13	77569333	77569333	+	Silent	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:77569333A>G	ENST00000377453.3	+	2	1748	c.456A>G	c.(454-456)gaA>gaG	p.E152E	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	103					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.E152E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		CAGTATGGGAATTTAAATATG	0.383000													6	112					0	0	0.001984	0	0
S1PR3	1903	broad.mit.edu	37	9	91616365	91616365	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:91616365T>C	ENST00000375846.3	+	1	4945	c.250T>C	c.(250-252)Tgc>Cgc	p.C84R	S1PR3_ENST00000358157.2_Missense_Mutation_p.C84R			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	84					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.C84R(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CCTGGCTCTCTGCGACCTGCT	0.502000											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	70					0	0	0.004482	0	0
OR6F1	343169	broad.mit.edu	37	1	247875162	247875162	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:247875162T>A	ENST00000302084.2	-	1	943	c.896A>T	c.(895-897)gAg>gTg	p.E299V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E299V(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAGCAGAGTCTCTCTTACTTC	0.428000													41	136					0	0	0.010771	0	0
PTPRD	5789	broad.mit.edu	37	9	8528593	8528593	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:8528593G>T	ENST00000381196.4	-	12	1082	c.539C>A	c.(538-540)tCa>tAa	p.S180*	PTPRD_ENST00000356435.5_Nonsense_Mutation_p.S180*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.S180*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.S180*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.S180*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.S180*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.S180*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.S180*|PTPRD_ENST00000463477.1_Nonsense_Mutation_p.S180*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.S180*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.S180*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.S180*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	180	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S180K(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACCCTACCTGATCGTAACTG	0.328000										TSP Lung(15;0.13)			14	106					4.7546e-09	6.67491e-09	0.004007	1	0
NEURL1	9148	broad.mit.edu	37	10	105331369	105331369	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:105331369G>C	ENST00000369780.4	+	3	848	c.439G>C	c.(439-441)Gtg>Ctg	p.V147L	NEURL_ENST00000369777.2_Missense_Mutation_p.V130L	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		147	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding	p.V147L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCCCGACCTGGTGTCCCAGAG	0.647000													4	33					0	0	0.009096	0	0
NELL2	4753	broad.mit.edu	37	12	44926385	44926385	+	Missense_Mutation	SNP	G	G	T	rs80147310		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:44926385G>T	ENST00000429094.2	-	16	2287	c.1783C>A	c.(1783-1785)Cca>Aca	p.P595T	NELL2_ENST00000452445.2_Missense_Mutation_p.P595T|NELL2_ENST00000333837.4_Missense_Mutation_p.P618T|NELL2_ENST00000551601.1_Intron|NELL2_ENST00000395487.2_Missense_Mutation_p.P594T|NELL2_ENST00000437801.2_Missense_Mutation_p.P645T|NELL2_ENST00000549027.1_Missense_Mutation_p.P594T	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	595	EGF-like 5; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.P645T(1)|p.P595T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TCTCCACTTGGTGAAAACATC	0.408000													8	41					3.86212e-05	4.55516e-05	0.008291	1	0
NOS2	4843	broad.mit.edu	37	17	26109073	26109073	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:26109073G>T	ENST00000313735.6	-	7	923	c.690C>A	c.(688-690)caC>caA	p.H230Q		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	230					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.H230Q(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGTAACGCACGTGTCTGCAGA	0.547000													5	18					5.9392e-07	7.66793e-07	0.001168	1	0
GABRP	2568	broad.mit.edu	37	5	170235643	170235643	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:170235643G>A	ENST00000518525.1	+	9	1183	c.719G>A	c.(718-720)aGg>aAg	p.R240K	GABRP_ENST00000265294.4_Missense_Mutation_p.R240K|GABRP_ENST00000519385.1_Missense_Mutation_p.R240K|GABRP_ENST00000519598.1_Missense_Mutation_p.R240K			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	240						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R240K(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGCTTCGGAGGAATGTTCTG	0.418000													6	45					0	0	0.001168	0	0
NIPAL2	79815	broad.mit.edu	37	8	99264812	99264812	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:99264812G>A	ENST00000341166.3	-	3	510	c.255C>T	c.(253-255)ttC>ttT	p.F85F	NIPAL2_ENST00000430223.2_Silent_p.F85F	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	85						integral to membrane		p.F85F(2)		cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						GCACACTCTTGAAGTATGGCC	0.493000													5	83					0	0	0.001168	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607070	84607070	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:84607070C>G	ENST00000344803.2	+	4	1732	c.1685C>G	c.(1684-1686)cCc>cGc	p.P562R		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.P562R(2)									CAACCACTACCCTTGCCTCAA	0.507000													15	136					0	0	0.006122	0	0
ITGA3	3675	broad.mit.edu	37	17	48166490	48166490	+	Missense_Mutation	SNP	G	G	T	rs139083066	byFrequency	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:48166490G>T	ENST00000007722.7	+	25	3062	c.3062G>T	c.(3061-3063)cGg>cTg	p.R1021L	ITGA3_ENST00000320031.8_3'UTR			P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	1021	Interaction with HPS5.				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	p.R1021Q(1)|p.R1021L(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TTCTTTAAGCGGACCCGCTAT	0.572000													84	435					6.31949e-53	1.11985e-52	0.014410	1	0
CDH13	1012	broad.mit.edu	37	16	83813620	83813620	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:83813620G>A	ENST00000566620.1	+	12	2019	c.1729G>A	c.(1729-1731)Gac>Aac	p.D577N	CDH13_ENST00000268613.10_Missense_Mutation_p.D624N|CDH13_ENST00000428848.3_Missense_Mutation_p.D538N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	577	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	p.D577N(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AACCCTGGAGGACGTGAATGA	0.488000													9	30					0	0	0.010729	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136321309	136321309	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:136321309C>T	ENST00000371929.3	+	26	4131	c.3687C>T	c.(3685-3687)gtC>gtT	p.V1229V	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.V1142V|ADAMTS13_ENST00000371910.1_Silent_p.V25V|ADAMTS13_ENST00000355699.2_Silent_p.V1173V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1229	CUB 1.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.V1229V(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCCTCCGCGTCCTTGAGAGTT	0.632000													10	45					0	0	0.008291	0	0
MC5R	4161	broad.mit.edu	37	18	13825819	13825819	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:13825819G>T	ENST00000324750.3	+	1	277	c.55G>T	c.(55-57)Ggc>Tgc	p.G19C		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	19					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.G19C(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGCCACAGAGGGCAACCTTTC	0.448000													28	41					1.33986e-20	2.21675e-20	0.004656	1	0
SVEP1	79987	broad.mit.edu	37	9	113168525	113168525	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:113168525G>A	ENST00000401783.2	-	38	9691	c.9355C>T	c.(9355-9357)Ccc>Tcc	p.P3119S	SVEP1_ENST00000297826.5_Missense_Mutation_p.P1045S|SVEP1_ENST00000374469.1_Missense_Mutation_p.P3096S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3119	Sushi 28.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.P3122S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGGACAAGGGCTCACAGACT	0.502000													44	83					0	0	0.009718	0	0
EYA4	2070	broad.mit.edu	37	6	133802682	133802682	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:133802682C>A	ENST00000367895.5	+	12	1516	c.1052C>A	c.(1051-1053)tCc>tAc	p.S351Y	EYA4_ENST00000430974.2_Missense_Mutation_p.S303Y|EYA4_ENST00000355167.3_Missense_Mutation_p.S351Y|EYA4_ENST00000531901.1_Missense_Mutation_p.S357Y|EYA4_ENST00000355286.6_Missense_Mutation_p.S328Y|EYA4_ENST00000525849.1_Missense_Mutation_p.S328Y|EYA4_ENST00000452339.2_Missense_Mutation_p.S297Y|EYA4_ENST00000431403.2_Missense_Mutation_p.S351Y	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	351					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.S351Y(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GGGTCAAAGTCCAGAGGAAGA	0.448000													5	60					0.014758	0.0154191	0.014758	1	0
CYP11B2	1585	broad.mit.edu	37	8	143994258	143994258	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:143994258C>A	ENST00000323110.2	-	7	1167	c.1165G>T	c.(1165-1167)Gac>Tac	p.D389Y		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	389					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.D389Y(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	AGCACCAAGTCTGAGCTCACC	0.597000									Familial Hyperaldosteronism type I				10	31					3.86212e-05	4.55516e-05	0.008291	1	0
SCN1A	6323	broad.mit.edu	37	2	166894432	166894432	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:166894432T>C	ENST00000423058.2	-	15	2817	c.2800A>G	c.(2800-2802)Atg>Gtg	p.M934V	SCN1A_ENST00000303395.4_Missense_Mutation_p.M934V|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.M906V|SCN1A_ENST00000375405.3_Missense_Mutation_p.M923V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	934			M -> I (in SMEI; dbSNP:rs121918774).			voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.M923V(1)|p.M934V(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGTCATTCATGTGCCAGCGT	0.507000													23	131					0	0	0.014323	0	0
PLOD3	8985	broad.mit.edu	37	7	100856219	100856219	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:100856219C>A	ENST00000223127.3	-	8	1181	c.783G>T	c.(781-783)caG>caT	p.Q261H		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	261					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.Q261H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGTAGTTGAGCTGCAGCTGTT	0.642000													6	32					2.7689e-08	3.77719e-08	0.001984	1	0
GINS3	64785	broad.mit.edu	37	16	58437222	58437222	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:58437222A>T	ENST00000318129.5	+	2	615	c.407A>T	c.(406-408)cAg>cTg	p.Q136L	GINS3_ENST00000426538.2_Missense_Mutation_p.Q175L|GINS3_ENST00000328514.7_Intron	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	136					DNA replication	nucleus		p.Q136L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						GACATTTCCCAGTCTCTGCTG	0.517000													5	21					0	0	0.014758	0	0
LRP2	4036	broad.mit.edu	37	2	170103295	170103295	+	Missense_Mutation	SNP	C	C	A	rs147058423	byFrequency	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:170103295C>A	ENST00000263816.3	-	21	3395	c.3110G>T	c.(3109-3111)aGa>aTa	p.R1037I	LRP2_ENST00000443831.1_Missense_Mutation_p.R900I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1037	LDL-receptor class A 8.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R1037I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGGCACACATCTGCCATTTTT	0.473000													45	165					1.52319e-26	2.59581e-26	0.008740	1	0
OR8K5	219453	broad.mit.edu	37	11	55927530	55927530	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:55927530A>T	ENST00000313447.1	-	1	263	c.264T>A	c.(262-264)gaT>gaA	p.D88E		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D88E(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TAGTATTTCGATCCACAACAA	0.388000													9	49					0	0	0.004482	0	0
MMP27	64066	broad.mit.edu	37	11	102562551	102562551	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:102562551G>A	ENST00000260229.4	-	10	1579	c.1488C>T	c.(1486-1488)agC>agT	p.S496S		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	496					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.S496S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		AAATAAACAAGCTTAAACTCT	0.284000													21	41					0	0	0.008871	0	0
ZBTB11	27107	broad.mit.edu	37	3	101390764	101390764	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:101390764C>A	ENST00000461821.1	-	2	807	c.604G>T	c.(604-606)Gcc>Tcc	p.A202S	ZBTB11_ENST00000312938.4_Intron			O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTCACCAAGGCTGCAAATACT	0.368000													9	23					0.00448238	0.00485144	0.004482	1	0
HOXD3	3232	broad.mit.edu	37	2	177033942	177033942	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:177033942T>G	ENST00000468418.3	+	3	2190	c.100T>G	c.(100-102)Tac>Gac	p.Y34D	HOXD3_ENST00000249440.3_Missense_Mutation_p.Y34D|HOXD3_ENST00000410016.1_Missense_Mutation_p.Y34D			P31249	HXD3_HUMAN	homeobox D3	34					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y34D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AGGCTATGGCTACAGCAAAAC	0.557000													8	98					0	0	0.003080	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5232586	5232586	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:5232586G>A	ENST00000274181.7	+	12	1945	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	603	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G603R(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGGACCTGCGGAGGGGGAGT	0.567000													59	84					0	0	0.014410	0	0
DOCK1	1793	broad.mit.edu	37	10	129172391	129172391	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:129172391G>A	ENST00000280333.6	+	35	3634	c.3525G>A	c.(3523-3525)gtG>gtA	p.V1175V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1175	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.V1175V(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AACTCGTTGTGCGCTTAATGG	0.423000													5	25					0	0	0.001984	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093391	30093391	+	RNA	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:30093391C>G	ENST00000567636.1	+	0	1766					NR_003558.1																						CCCCCCTGGGCTTTTCCCACC	0.502000													23	46					0	0	0.014323	0	0
SYT10	341359	broad.mit.edu	37	12	33559996	33559996	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:33559996G>C	ENST00000228567.3	-	3	1101	c.805C>G	c.(805-807)Cct>Gct	p.P269A	SYT10_ENST00000535526.1_Missense_Mutation_p.P88A	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	269	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.P269A(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTCACATAAGGGTCAGAAGTT	0.343000													5	41					0	0	0.001984	0	0
CASP1	834	broad.mit.edu	37	11	104897650	104897650	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:104897650C>A	ENST00000533400.1	-	8	1070	c.1035G>T	c.(1033-1035)atG>atT	p.M345I	CASP1_ENST00000436863.3_Missense_Mutation_p.M345I|CASP1_ENST00000393136.4_Missense_Mutation_p.M324I|CASP1_ENST00000598974.1_Missense_Mutation_p.M345I|CASP1_ENST00000353247.5_Missense_Mutation_p.M29I|CASP1_ENST00000594519.1_Missense_Mutation_p.M204I|CASP1_ENST00000415981.2_Missense_Mutation_p.M29I|CASP1_ENST00000531166.1_Missense_Mutation_p.M29I|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000527979.1_Missense_Mutation_p.M308I|CASP1_ENST00000526568.1_Missense_Mutation_p.M252I|CASP1_ENST00000446369.1_Missense_Mutation_p.M204I|CASP1_ENST00000525825.1_Missense_Mutation_p.M324I|CASP1_ENST00000593315.1_Missense_Mutation_p.M324I|CASP1_ENST00000534497.1_Missense_Mutation_p.M204I	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	345					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.M345I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AAACAGAGCCCATTGTGGGAT	0.398000													12	29					5.50884e-06	6.78516e-06	0.013537	1	0
ASCC3	10973	broad.mit.edu	37	6	101103674	101103674	+	Silent	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:101103674A>G	ENST00000369162.2	-	17	3068	c.2724T>C	c.(2722-2724)acT>acC	p.T908T		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	908	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.T908T(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTTCCACATTAGTAACTGTTC	0.363000													4	10					0	0	0.014758	0	0
GMIP	51291	broad.mit.edu	37	19	19749277	19749277	+	Silent	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:19749277T>C	ENST00000203556.4	-	8	689	c.552A>G	c.(550-552)aaA>aaG	p.K184K	GMIP_ENST00000445806.2_Silent_p.K184K|GMIP_ENST00000587238.1_Silent_p.K184K	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	184					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	p.K184K(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCTCAGTCCGTTTGGCGGCGA	0.597000													5	22					0	0	0.003080	0	0
CACNG3	10368	broad.mit.edu	37	16	24366154	24366154	+	Splice_Site	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:24366154G>A	ENST00000005284.3	+	3	1498	c.295_splice	c.e3-1	p.R99_splice		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	99					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R99Q(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTCTCCGCAGGAGCTGTGAGG	0.637000													11	57					0	0	0.013537	0	0
TTN	7273	broad.mit.edu	37	2	179530103	179530103	+	Splice_Site	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:179530103C>A	ENST00000589042.1	-	165	36268		c.e165+1		TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTAACGTACTTTTCATACG	0.343000													13	64					1.5842e-08	2.17752e-08	0.016723	1	0
DLGAP4	22839	broad.mit.edu	37	20	35060433	35060433	+	Missense_Mutation	SNP	C	C	A	rs144799810		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:35060433C>A	ENST00000373913.3	+	3	793	c.313C>A	c.(313-315)Ctg>Atg	p.L105M	DLGAP4_ENST00000339266.5_Missense_Mutation_p.L105M|DLGAP4_ENST00000373907.2_Missense_Mutation_p.L105M|DLGAP4_ENST00000401952.2_Missense_Mutation_p.L105M			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	105					cell-cell signaling	membrane	protein binding	p.L105M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGCCAACCTCCTGGACCAGTT	0.642000													7	66					1.12685e-05	1.37388e-05	0.004482	1	0
LVRN	206338	broad.mit.edu	37	5	115335492	115335492	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:115335492A>G	ENST00000357872.4	+	7	1532	c.1408A>G	c.(1408-1410)Atc>Gtc	p.I470V	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		470					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.I470V(1)									TTTACATAATATCCTCAGAGA	0.378000													5	39					0	0	0.001168	0	0
PSG6	5675	broad.mit.edu	37	19	43411745	43411745	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:43411745A>G	ENST00000187910.2	-	4	1033	c.968T>C	c.(967-969)gTc>gCc	p.V323A	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.V323A	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6									p.V323A(1)		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)				ATTCAGGGTGACTGGGTTACT	0.512000													30	89					0	0	0.014410	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356308	37356308	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:37356308G>A	ENST00000217420.1	+	2	867	c.604G>A	c.(604-606)Ggc>Agc	p.G202S		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	202					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.G202S(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCCAACGCTGGGCGGCCGAGT	0.632000													7	31					0	0	0.001984	0	0
GALNTL6	442117	broad.mit.edu	37	4	173804035	173804035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:173804035G>T	ENST00000506823.1	+	8	1675	c.1018G>T	c.(1018-1020)Gaa>Taa	p.E340*	GALNTL6_ENST00000508122.1_Nonsense_Mutation_p.E323*	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	340	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E340*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CTGGGGAGGAGAACAGTATGA	0.423000													21	89					7.87624e-14	1.20903e-13	0.016522	1	0
DNAJB8	165721	broad.mit.edu	37	3	128181837	128181837	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:128181837G>T	ENST00000469083.1	-	2	2809	c.252C>A	c.(250-252)caC>caA	p.H84Q	DNAJB8_ENST00000319153.3_Missense_Mutation_p.H84Q			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	84					protein folding		heat shock protein binding|unfolded protein binding	p.H84Q(1)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CGAAGGGGCTGTGGTAGGGCG	0.602000													12	57					7.93312e-07	1.01696e-06	0.020292	1	0
NYNRIN	57523	broad.mit.edu	37	14	24884816	24884816	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:24884816C>T	ENST00000382554.3	+	9	4179	c.3861C>T	c.(3859-3861)ccC>ccT	p.P1287P		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1287					DNA integration	integral to membrane	DNA binding	p.P1287P(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCTCACCCCCGCGGCCTCCA	0.622000													11	121					0	0	0.008291	0	0
BIRC6	57448	broad.mit.edu	37	2	32726951	32726951	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:32726951G>T	ENST00000421745.2	+	47	9337	c.9203G>T	c.(9202-9204)aGa>aTa	p.R3068I		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3068					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.R3068I(1)|p.R3040I(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TATATGGGCAGACAAGTAAGT	0.343000													28	70					5.91797e-21	9.83607e-21	0.012213	1	0
ZFHX4	79776	broad.mit.edu	37	8	77768373	77768373	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:77768373C>A	ENST00000521891.2	+	10	9664	c.9216C>A	c.(9214-9216)gaC>gaA	p.D3072E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3027E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3027E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3046E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3027	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D3056E(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGCTTCAGACGTGCTGGGCT	0.572000										HNSCC(33;0.089)			24	178					7.07758e-08	9.52903e-08	0.004656	1	0
BIRC6	57448	broad.mit.edu	37	2	32768555	32768555	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:32768555A>T	ENST00000421745.2	+	62	12673	c.12539A>T	c.(12538-12540)cAt>cTt	p.H4180L		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4180					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.H4180L(1)|p.H4152L(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGAGAAAACATGCCCAGTGC	0.423000													41	80					0	0	0.006999	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885437	88885437	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:88885437A>T	ENST00000319675.3	-	1	859	c.763T>A	c.(763-765)Tgt>Agt	p.C255S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	255								p.C255S(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGATTTCCACAGCGCAGATCA	0.512000													14	114					0	0	0.020292	0	0
CAMK2B	816	broad.mit.edu	37	7	44259817	44259817	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:44259817G>T	ENST00000395749.2	-	23	1921	c.1845C>A	c.(1843-1845)gcC>gcA	p.A615A	CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000347193.4_Silent_p.A441A|CAMK2B_ENST00000358707.3_Silent_p.A452A|CAMK2B_ENST00000346990.4_Silent_p.A398A|CAMK2B_ENST00000350811.3_Silent_p.A491A|CAMK2B_ENST00000395747.2_Silent_p.A467A|CAMK2B_ENST00000258682.6_Silent_p.A466A|CAMK2B_ENST00000353625.4_Silent_p.A428A|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000440254.2_Silent_p.A491A|CAMK2B_ENST00000457475.1_Silent_p.A467A	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	615					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.A615A(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AAGCGATGCAGGCGGCATCCT	0.667000													4	46					2.56e-06	3.21892e-06	0.009096	1	0
SLIT2	9353	broad.mit.edu	37	4	20599966	20599966	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:20599966C>T	ENST00000504154.1	+	33	3892	c.3640C>T	c.(3640-3642)Cgt>Tgt	p.R1214C	SLIT2_ENST00000273739.5_Missense_Mutation_p.R1227C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1206C|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1210C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1214	Laminin G-like.				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						CTATCGGGGGCGTGTTCGTGC	0.473000													4	115					0	0	0.014758	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179820017	179820017	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:179820017C>A	ENST00000367612.3	-	4	903	c.516G>T	c.(514-516)gaG>gaT	p.E172D		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	172						endoplasmic reticulum membrane|integral to membrane	protein binding	p.E172D(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TATCCTCACCCTCTTGCCCTG	0.552000													35	81					4.65686e-17	7.39981e-17	0.017118	1	0
DPPA5	340168	broad.mit.edu	37	6	74063858	74063858	+	Silent	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:74063858G>T	ENST00000370370.3	-	1	160	c.91C>A	c.(91-93)Cgg>Agg	p.R31R		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	31	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding	p.R31R(1)		NS(1)|endometrium(1)|lung(5)	7						TTCAGCAGCCGCGTCTGGACC	0.602000													16	38					7.45023e-12	1.10379e-11	0.010504	1	0
EPHA3	2042	broad.mit.edu	37	3	89259557	89259557	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:89259557C>A	ENST00000336596.2	+	3	926	c.701C>A	c.(700-702)tCt>tAt	p.S234Y	EPHA3_ENST00000452448.2_Missense_Mutation_p.S234Y|EPHA3_ENST00000494014.1_Missense_Mutation_p.S234Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	234	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding	p.S234Y(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTCAACAATTCTAAGGAGGAA	0.488000										TSP Lung(6;0.00050)			20	73					1.37522e-17	2.19975e-17	0.007413	1	0
AMOTL1	154810	broad.mit.edu	37	11	94554901	94554901	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:94554901C>A	ENST00000433060.2	+	4	1468	c.1327C>A	c.(1327-1329)Caa>Aaa	p.Q443K	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.Q393K|AMOTL1_ENST00000539727.1_3'UTR	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	443						cytoplasm|tight junction	identical protein binding	p.Q443K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GCGAGCCCAGCAAATGGTGGA	0.602000													22	126					4.26978e-12	6.33891e-12	0.018920	1	0
SCN4A	6329	broad.mit.edu	37	17	62049725	62049725	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:62049725C>A	ENST00000578147.1	-	2	455	c.379G>T	c.(379-381)Gtg>Ttg	p.V127L	SCN4A_ENST00000435607.1_Missense_Mutation_p.V127L			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	127					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V127M(1)|p.V127L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGGATGAGCACCTTGATGGCC	0.617000													9	32					0.000274275	0.00031033	0.004482	1	0
CNBD1	168975	broad.mit.edu	37	8	88249304	88249304	+	Silent	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:88249304A>G	ENST00000518476.1	+	6	786	c.735A>G	c.(733-735)acA>acG	p.T245T	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	245								p.T245T(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAAACTCTACACTTGCTGAGA	0.373000													5	29					0	0	0.001168	0	0
ABCG4	64137	broad.mit.edu	37	11	119029413	119029413	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:119029413C>A	ENST00000307417.3	+	11	1678	c.1314C>A	c.(1312-1314)gcC>gcA	p.A438A	ABCG4_ENST00000449422.2_Silent_p.A438A|ABCG4_ENST00000531739.1_Silent_p.A438A	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	438	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.A438A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGTTCGCCGCCCTCATGCCAA	0.627000													117	59					2.54773e-45	4.4927e-45	0.014410	1	0
ZMPSTE24	10269	broad.mit.edu	37	1	40758147	40758147	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:40758147C>T	ENST00000372759.3	+	10	1399	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	412						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	p.R412S(1)|p.R412C(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			AGTCCTAAGCCGCAGATTTGA	0.383000													14	137					0	0	0.004990	0	0
DTX1	1840	broad.mit.edu	37	12	113515322	113515322	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:113515322G>C	ENST00000257600.3	+	2	856	c.353G>C	c.(352-354)tGg>tCg	p.W118S		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	118	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.W118S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCGGCGCATGGACGGCCTAC	0.632000													8	53					0	0	0.008291	0	0
TRIB2	28951	broad.mit.edu	37	2	12858618	12858618	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:12858618G>A	ENST00000155926.4	+	1	1604	c.185G>A	c.(184-186)gGg>gAg	p.G62E	TRIB2_ENST00000381465.2_Intron|TRIB2_ENST00000405331.3_Missense_Mutation_p.G62E	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	62	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.G62E(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTTGTATCGGGAAATACTTA	0.577000											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	79					0	0	0.003163	0	0
QSOX1	5768	broad.mit.edu	37	1	180158700	180158700	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:180158700G>T	ENST00000367602.3	+	9	1105	c.1031G>T	c.(1030-1032)cGg>cTg	p.R344L	QSOX1_ENST00000367600.5_Missense_Mutation_p.R344L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	344					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	p.R344L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTCCCTGGCCGGCCCTTAGTC	0.502000													10	270					6.40141e-05	7.48903e-05	0.010729	1	0
ZNF423	23090	broad.mit.edu	37	16	49670063	49670063	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:49670063C>A	ENST00000561648.1	-	4	3053	c.3000G>T	c.(2998-3000)gaG>gaT	p.E1000D	ZNF423_ENST00000563137.2_Missense_Mutation_p.E940D|ZNF423_ENST00000262383.2_Missense_Mutation_p.E1000D|ZNF423_ENST00000567169.1_Missense_Mutation_p.E883D|ZNF423_ENST00000535559.1_Missense_Mutation_p.E883D|ZNF423_ENST00000562871.1_Missense_Mutation_p.E940D|ZNF423_ENST00000562520.1_Missense_Mutation_p.E940D	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1000					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.E1000D(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TAAACTCCTCCTCGCTCTGCA	0.597000													3	24					0.004672	0.00502657	0.004672	1	0
AP3D1	8943	broad.mit.edu	37	19	2109914	2109914	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:2109914T>A	ENST00000355272.6	-	29	3514	c.3308A>T	c.(3307-3309)cAc>cTc	p.H1103L	AP3D1_ENST00000356926.4_Missense_Mutation_p.H1000L|AP3D1_ENST00000345016.5_Missense_Mutation_p.H1041L|AP3D1_ENST00000350812.6_Missense_Mutation_p.H872L	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	1041					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	p.H1041L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GCAGCTGAAGTGCAGCCTGAA	0.637000													5	54					0	0	0.001168	0	0
FOXN3	1112	broad.mit.edu	37	14	89647103	89647103	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr14:89647103G>C	ENST00000345097.4	-	6	975	c.859C>G	c.(859-861)Ctg>Gtg	p.L287V	FOXN3_ENST00000261302.5_Missense_Mutation_p.L287V|FOXN3_ENST00000555353.1_Missense_Mutation_p.L265V|FOXN3_ENST00000557258.1_Missense_Mutation_p.L265V	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	287					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.L287V(1)|p.L265V(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGGAAACAGCCCTCGGCTC	0.592000													9	12					0	0	0.010729	0	0
POTEH	23784	broad.mit.edu	37	22	16267032	16267032	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr22:16267032C>A	ENST00000343518.6	-	9	1468	c.1417G>T	c.(1417-1419)Ggt>Tgt	p.G473C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	473								p.G473C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GCAGTGGCACCGTTAGTCAGG	0.408000													11	191					4.68919e-08	6.34885e-08	0.008291	1	0
SMO	6608	broad.mit.edu	37	7	128848686	128848686	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:128848686C>A	ENST00000249373.3	+	7	1631	c.1351C>A	c.(1351-1353)Cgc>Agc	p.R451S		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	451					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R451S(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GACCATGCTGCGCCTGGGTGA	0.617000			Mis		skin basal cell								12	15					3.07112e-06	3.84821e-06	0.010729	1	0
SLC4A11	83959	broad.mit.edu	37	20	3214271	3214271	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:3214271C>A	ENST00000380059.3	-	7	848	c.747G>T	c.(745-747)aaG>aaT	p.K249N	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.K222N|SLC4A11_ENST00000539553.1_Missense_Mutation_p.K206N	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	222					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	p.K222N(1)|p.K249N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TCTGTAGGGCCTTCATGGTAC	0.652000													4	37					0.00909568	0.00960026	0.009096	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	12					0	0	0.004672	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361573	70361573	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:70361573T>A	ENST00000305107.6	-	1	53	c.7A>T	c.(7-9)Atg>Ttg	p.M3L	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.M3L|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	3					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.M3L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GTCCATTTCATAGACATCCTG	0.443000													22	121					0	0	0.014323	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	50					0	0	0.009096	0	0
OR10C1	442194	broad.mit.edu	37	6	29408414	29408414	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:29408414T>C	ENST00000444197.2	+	1	1332	c.622T>C	c.(622-624)Tgc>Cgc	p.C208R	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C208R(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCTCATCCTCTGCCCCTTTGG	0.582000													57	153					0	0	0.014410	0	0
NR3C1	2908	broad.mit.edu	37	5	142779852	142779852	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:142779852T>A	ENST00000343796.2	-	2	1546	c.553A>T	c.(553-555)Acc>Tcc	p.T185S	NR3C1_ENST00000394466.2_Missense_Mutation_p.T185S|NR3C1_ENST00000424646.2_Missense_Mutation_p.T185S|NR3C1_ENST00000394464.2_Missense_Mutation_p.T185S|NR3C1_ENST00000231509.3_Missense_Mutation_p.T185S|NR3C1_ENST00000415690.2_Missense_Mutation_p.T185S|NR3C1_ENST00000503201.1_Missense_Mutation_p.T185S|NR3C1_ENST00000504572.1_Missense_Mutation_p.T185S|NR3C1_ENST00000416954.2_Intron	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	185	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.T185S(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TGGTCTGTGGTATACAATTTC	0.453000													5	53					0	0	0.014758	0	0
CHST2	9435	broad.mit.edu	37	3	142841065	142841065	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:142841065C>A	ENST00000309575.3	+	2	2791	c.1407C>A	c.(1405-1407)ttC>ttA	p.F469L		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	469					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.F469L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CCAAGCCTTTCGTGGTATCTG	0.582000													13	41					1.05317e-09	1.50483e-09	0.020292	1	0
OR14C36	127066	broad.mit.edu	37	1	248512748	248512748	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:248512748C>A	ENST00000317861.1	+	1	672	c.672C>A	c.(670-672)ctC>ctA	p.L224L		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L224L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CGACCGTGCTCGGGTTTCCAA	0.498000													15	79					3.27435e-08	4.44992e-08	0.020292	1	0
UTRN	7402	broad.mit.edu	37	6	144803498	144803498	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:144803498A>G	ENST00000367545.3	+	26	3661	c.3661A>G	c.(3661-3663)Att>Gtt	p.I1221V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1221					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.I1221V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTGTAATAGAATTCGAGGAAA	0.353000													4	40					0	0	0.014758	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039223	184039223	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr3:184039223C>G	ENST00000342981.4	+	9	1265	c.851C>G	c.(850-852)tCt>tGt	p.S284C	EIF4G1_ENST00000427845.1_Missense_Mutation_p.S197C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S291C|EIF4G1_ENST00000441154.1_Missense_Mutation_p.S120C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S291C|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S284C|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S244C|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S244C|EIF4G1_ENST00000346169.2_Missense_Mutation_p.S284C|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S291C|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S120C|EIF4G1_ENST00000435046.2_Missense_Mutation_p.S88C|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S197C|EIF4G1_ENST00000434061.2_Missense_Mutation_p.S88C	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	284					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.S284C(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGTCCTCTCTATTCCTGGG	0.542000													8	56					0	0	0.006214	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518430	161518430	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:161518430A>G	ENST00000367969.3	-	3	391	c.208T>C	c.(208-210)Tgg>Cgg	p.W70R	FCGR3A_ENST00000540048.1_Missense_Mutation_p.W34R|FCGR3A_ENST00000443193.1_Missense_Mutation_p.W69R|FCGR3A_ENST00000436743.1_Missense_Mutation_p.W34R|FCGR3A_ENST00000476031.1_5'UTR	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	34	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	p.W70R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCCTGTACCATTGAGGCTCC	0.542000													35	117					0	0	0.019004	0	0
HECTD4	283450	broad.mit.edu	37	12	112708216	112708216	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:112708216C>T	ENST00000550722.1	-	12	1953	c.1558G>A	c.(1558-1560)Gtt>Att	p.V520I	HECTD4_ENST00000430131.2_Missense_Mutation_p.V232I|HECTD4_ENST00000377560.5_Missense_Mutation_p.V482I	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.V482I(1)|p.V232I(1)									ATCGCACCAACGTGGTGCAAT	0.448000													24	238					0	0	0.004656	0	0
PREX2	80243	broad.mit.edu	37	8	68956759	68956759	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:68956759C>A	ENST00000288368.4	+	8	1154	c.877C>A	c.(877-879)Cgg>Agg	p.R293R	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	293	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R293R(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGATGGACATCGGTACCTTTT	0.403000													4	38					0.00024832	0.000282288	0.009096	1	0
DLGAP4	22839	broad.mit.edu	37	20	35060432	35060432	+	Silent	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:35060432C>A	ENST00000373913.3	+	3	792	c.312C>A	c.(310-312)ctC>ctA	p.L104L	DLGAP4_ENST00000339266.5_Silent_p.L104L|DLGAP4_ENST00000373907.2_Silent_p.L104L|DLGAP4_ENST00000401952.2_Silent_p.L104L			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	104					cell-cell signaling	membrane	protein binding	p.L105M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCGCCAACCTCCTGGACCAGT	0.637000													7	67					1.12685e-05	1.37388e-05	0.004482	1	0
RP1L1	94137	broad.mit.edu	37	8	10469396	10469396	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:10469396C>A	ENST00000382483.3	-	4	2435	c.2212G>T	c.(2212-2214)Gcc>Tcc	p.A738S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	738					intracellular signal transduction			p.A738S(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTGACAGTGGCACTGCTGGTT	0.627000													24	46					5.35356e-11	7.80367e-11	0.016522	1	0
PI4KA	5297	broad.mit.edu	37	22	21158629	21158629	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr22:21158629C>G	ENST00000255882.6	-	12	1506	c.1420G>C	c.(1420-1422)Gtc>Ctc	p.V474L	PI4KA_ENST00000572273.1_Missense_Mutation_p.V416L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	416					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.V416L(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GCAATAATGACTTTGCTGGAC	0.507000											OREG0026326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	49					0	0	0.004482	0	0
FAT1	2195	broad.mit.edu	37	4	187557842	187557842	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:187557842C>A	ENST00000441802.2	-	5	4078	c.3869G>T	c.(3868-3870)aGc>aTc	p.S1290I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1290	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.S1290I(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTCTTCGATGCTGTAGGAGAT	0.493000										HNSCC(5;0.00058)			50	282					1.83081e-24	3.09994e-24	0.014410	1	0
PCDHB2	56133	broad.mit.edu	37	5	140475997	140475997	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:140475997G>A	ENST00000194155.4	+	1	1771	c.1623G>A	c.(1621-1623)ccG>ccA	p.P541P		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		541	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P541P(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCTCCCCGGCGTTGAGCA	0.697000													14	51					0	0	0.020292	0	0
COL4A1	1282	broad.mit.edu	37	13	110819542	110819542	+	Silent	SNP	C	C	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:110819542C>T	ENST00000375820.4	-	44	4033	c.3912G>A	c.(3910-3912)aaG>aaA	p.K1304K		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1304	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.K1304K(1)|p.K947K(1)		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)			CCATATCACCCTTAGAGCCTG	0.517000													7	199					0	0	0.001984	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148047	70148047	+	Silent	SNP	T	T	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:70148047T>G	ENST00000374299.3	-	5	912	c.768A>C	c.(766-768)ggA>ggC	p.G256G	SLC7A3_ENST00000298085.4_Silent_p.G256G			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	256					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		p.G256G(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGGTCGCTGCTCCACGGAGAA	0.517000													4	12					0	0	0.001168	0	0
AEBP2	121536	broad.mit.edu	37	12	19615515	19615515	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:19615515G>A	ENST00000266508.9	+	2	744	c.743G>A	c.(742-744)gGa>gAa	p.G248E	AEBP2_ENST00000360995.4_Missense_Mutation_p.G32E|AEBP2_ENST00000541908.1_Missense_Mutation_p.G19E|AEBP2_ENST00000398864.3_Missense_Mutation_p.G248E	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	248	Interaction with RBBP4.|Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	p.G248E(1)		ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					ATGATGAATGGACAAGGAAGC	0.423000													17	17					0	0	0.006122	0	0
HTR2A	3356	broad.mit.edu	37	13	47466626	47466626	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr13:47466626A>T	ENST00000378688.4	-	2	643	c.512T>A	c.(511-513)cTg>cAg	p.L171Q	HTR2A_ENST00000543956.1_Missense_Mutation_p.L87Q|HTR2A_ENST00000542664.1_Missense_Mutation_p.L171Q			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	171					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.L171Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GTAGCGGTCCAGCGAGATGGC	0.547000													53	182					0	0	0.014410	0	0
SLC17A4	10050	broad.mit.edu	37	6	25777132	25777132	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr6:25777132A>G	ENST00000377905.4	+	10	1332	c.1213A>G	c.(1213-1215)Atc>Gtc	p.I405V	SLC17A4_ENST00000439485.2_Missense_Mutation_p.I175V|SLC17A4_ENST00000397076.2_Missense_Mutation_p.I203V	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	405					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.I405V(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTCTTCTGCCATCAGCAGCTT	0.522000													6	95					0	0	0.001168	0	0
EHMT1	79813	broad.mit.edu	37	9	140611370	140611370	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:140611370C>G	ENST00000460843.1	+	3	405	c.378C>G	c.(376-378)atC>atG	p.I126M	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.I95M|EHMT1_ENST00000462484.1_Missense_Mutation_p.I126M	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	126					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.I126M(1)|p.I95M(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACGGATACATCTTAAATAAGC	0.547000													13	64					0	0	0.003163	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813908	106813908	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:106813908G>C	ENST00000407775.2	+	8	1848	c.1598G>C	c.(1597-1599)aGt>aCt	p.S533T	RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S401T|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S264T|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S401T|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	533					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.S533T(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CATGGCAGTAGTAGCTACCCT	0.453000													41	177					0	0	0.007835	0	0
GRHL2	79977	broad.mit.edu	37	8	102586052	102586052	+	Splice_Site	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:102586052G>T	ENST00000251808.3	+	6	1229	c.891_splice	c.e6+1	p.R297_splice	GRHL2_ENST00000395927.1_Splice_Site_p.R281_splice	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	297						cytoplasm|nucleus	DNA binding	p.R297S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GCAAAGTCAGGGTAGGGGCCA	0.478000													16	28					1.56452e-12	2.34193e-12	0.007413	1	0
GSG1L	146395	broad.mit.edu	37	16	27802775	27802775	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:27802775G>T	ENST00000380898.2	-	8	1050	c.501C>A	c.(499-501)caC>caA	p.H167Q	GSG1L_ENST00000395724.3_Missense_Mutation_p.H253Q|GSG1L_ENST00000569166.1_Missense_Mutation_p.H167Q|GSG1L_ENST00000380897.3_Missense_Mutation_p.H149Q|GSG1L_ENST00000447459.2_Missense_Mutation_p.H304Q			Q6UXU4	GSG1L_HUMAN	GSG1-like	304						integral to membrane		p.H149Q(1)|p.H304Q(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						AATCCGCCATGTGTGGCTGGT	0.627000													11	25					1.58986e-06	2.02016e-06	0.008291	1	0
SAAL1	113174	broad.mit.edu	37	11	18113861	18113861	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:18113861A>G	ENST00000524803.1	-	4	393	c.344T>C	c.(343-345)gTg>gCg	p.V115A	SAAL1_ENST00000300013.4_Missense_Mutation_p.V115A|SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.V115A			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	115					acute-phase response	extracellular region	binding	p.V115A(1)		breast(2)|large_intestine(5)|lung(8)	15						TAAAATTCCCACACAGATTTC	0.348000													12	29					0	0	0.013537	0	0
OR14A16	284532	broad.mit.edu	37	1	247978434	247978434	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:247978434T>A	ENST00000357627.1	-	1	597	c.598A>T	c.(598-600)Att>Ttt	p.I200F		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I200F(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						ACTACATTAATAAGGATGAGT	0.393000													8	52					0	0	0.006214	0	0
MPEG1	219972	broad.mit.edu	37	11	58980169	58980169	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:58980169A>G	ENST00000361050.3	-	1	255	c.170T>C	c.(169-171)gTg>gCg	p.V57A		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	57	MACPF.					integral to membrane		p.V57A(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TCCCATGTCCACATTCCGCAG	0.478000													28	148					0	0	0.004656	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45971197	45971197	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr21:45971197G>C	ENST00000391621.1	-	1	191	c.145C>G	c.(145-147)Cca>Gca	p.P49A	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	49	22 X 5 AA repeats of C-C-X(3).					keratin filament		p.P49A(1)		large_intestine(1)|lung(4)|skin(1)	6						CAGCTCACTGGGGTGCAGACC	0.701000													5	58					0	0	0.014758	0	0
PKD1L1	168507	broad.mit.edu	37	7	47937647	47937647	+	Nonsense_Mutation	SNP	T	T	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:47937647T>A	ENST00000289672.2	-	14	2259	c.2209A>T	c.(2209-2211)Aga>Tga	p.R737*		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	737	REJ.				cell-cell adhesion	integral to membrane		p.R737*(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGGGTCTGTCTGTGAGTGTCC	0.537000													3	31					0	0	0.004672	0	0
IPO8	10526	broad.mit.edu	37	12	30784831	30784831	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr12:30784831G>A	ENST00000256079.4	-	24	3352	c.3014C>T	c.(3013-3015)gCa>gTa	p.A1005V	IPO8_ENST00000544829.1_Missense_Mutation_p.A800V	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	1005					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.A1005V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGGCTGACCTGCCACCGTCCG	0.557000													7	58					0	0	0.003080	0	0
STEAP1B	256227	broad.mit.edu	37	7	22532984	22532984	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:22532984G>A	ENST00000404369.4	-	3	971	c.556C>T	c.(556-558)Cga>Tga	p.R186*	STEAP1B_ENST00000406890.2_Nonsense_Mutation_p.R167*	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	167						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.R186*(1)|p.R167*(1)		endometrium(1)|kidney(1)|lung(2)	4						CTGTAGGATCGCCTCATTGCG	0.373000													13	29					0	0	0.013537	0	0
OR2B11	127623	broad.mit.edu	37	1	247614655	247614655	+	Silent	SNP	G	G	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:247614655G>A	ENST00000318749.6	-	1	653	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F210F(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCACCAACACGAAGAAGGCCA	0.562000													15	57					0	0	0.004007	0	0
HGF	3082	broad.mit.edu	37	7	81374416	81374416	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:81374416C>A	ENST00000222390.5	-	6	872	c.646G>T	c.(646-648)Ggg>Tgg	p.G216W	HGF_ENST00000457544.2_Missense_Mutation_p.G211W|HGF_ENST00000453411.1_Missense_Mutation_p.G211W|HGF_ENST00000444829.2_Missense_Mutation_p.G216W	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	216	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.G216W(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TAACTCTCCCCATTGCAGGTC	0.408000													25	27					3.28513e-13	4.9898e-13	0.021523	1	0
DPYD	1806	broad.mit.edu	37	1	98058934	98058934	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:98058934G>T	ENST00000370192.3	-	10	1068	c.968C>A	c.(967-969)gCc>gAc	p.A323D		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	323					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	p.A323D(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGAGTGACAGGCGCACATTCC	0.453000													15	54					1.05317e-09	1.50483e-09	0.020292	1	0
IFNA17	3451	broad.mit.edu	37	9	21227612	21227612	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:21227612C>A	ENST00000413767.2	-	1	609	c.561G>T	c.(559-561)agG>agT	p.R187S		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	187					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.R187S(1)		breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TTCAATCCTTCCTCCTTAATA	0.373000													24	80					9.95505e-16	1.56128e-15	0.014323	1	0
MARCO	8685	broad.mit.edu	37	2	119750829	119750829	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:119750829G>T	ENST00000541757.1	+	17	1528	c.1148G>T	c.(1147-1149)cGc>cTc	p.R383L	MARCO_ENST00000327097.4_Missense_Mutation_p.R461L			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	461	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.R461L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GTCTTCTGCCGCATGCTGGGT	0.547000													32	165					2.80507e-11	4.11373e-11	0.012213	1	0
FGFR2	2263	broad.mit.edu	37	10	123279674	123279674	+	Missense_Mutation	SNP	G	G	A	rs77543610		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:123279674G>A	ENST00000358487.5	-	7	1030	c.758C>T	c.(757-759)cCt>cTt	p.P253L	FGFR2_ENST00000369056.1_Missense_Mutation_p.P253L|FGFR2_ENST00000357555.5_Missense_Mutation_p.P164L|FGFR2_ENST00000351936.6_Missense_Mutation_p.P253L|FGFR2_ENST00000457416.2_Missense_Mutation_p.P253L|FGFR2_ENST00000360144.3_Missense_Mutation_p.P164L|FGFR2_ENST00000356226.4_Missense_Mutation_p.P138L|FGFR2_ENST00000346997.2_Missense_Mutation_p.P253L|FGFR2_ENST00000478859.1_Missense_Mutation_p.P25L|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369060.4_Missense_Mutation_p.P253L|FGFR2_ENST00000369059.1_Missense_Mutation_p.P138L|FGFR2_ENST00000490349.1_5'UTR	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	253			P -> R (in APRS; common mutation).|SP -> FS (in PS).		angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.P253R(7)|p.P253L(3)|p.P164R(1)|p.P164L(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GGGCCGGTGAGGCGATCGCTC	0.567000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				5	22					0	0	0.001168	0	0
CSMD2	114784	broad.mit.edu	37	1	34033332	34033332	+	Missense_Mutation	SNP	G	G	T	rs140959425		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:34033332G>T	ENST00000373381.4	-	53	8417	c.8241C>A	c.(8239-8241)aaC>aaA	p.N2747K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2724	Sushi 18.					integral to membrane|plasma membrane	protein binding	p.N2724K(1)|p.N2724N(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGATGTGTCCGTTGACAATGG	0.547000													7	14					3.09899e-07	4.05166e-07	0.004482	1	0
PDGFRA	5156	broad.mit.edu	37	4	55127576	55127576	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr4:55127576C>A	ENST00000257290.5	+	3	695	c.364C>A	c.(364-366)Cca>Aca	p.P122T	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Missense_Mutation_p.P122T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	122	Ig-like C2-type 2.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.P122T(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CATCTATGTGCCAGGTGAGTT	0.433000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			41	105					6.2361e-21	1.03411e-20	0.007835	1	0
LAMB1	3912	broad.mit.edu	37	7	107642135	107642135	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:107642135G>T	ENST00000393561.1	-	1	337	c.153C>A	c.(151-153)agC>agA	p.S51R	LAMB1_ENST00000393560.1_Missense_Mutation_p.S27R|LAMB1_ENST00000222399.6_Missense_Mutation_p.S27R			P07942	LAMB1_HUMAN	laminin, beta 1	27	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.S27R(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCAGCCGTAGCTGAACTCGG	0.652000													3	14					6.4e-05	7.48903e-05	0.004672	1	0
EPHA8	2046	broad.mit.edu	37	1	22902862	22902870	+	In_Frame_Del	DEL	CCTGCGCGA	CCTGCGCGA	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:22902862_22902870delCCTGCGCGA	ENST00000166244.3	+	3	384_392	c.312_320delCCTGCGCGA	c.(310-321)acc>ac	p.TLRD104del	EPHA8_ENST00000374644.4_In_Frame_Del_p.TLRD104del|EPHA8_ENST00000538803.1_In_Frame_Del_p.TLRD104del	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	104						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R106R(2)|p.R106H(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAAGTTTACCCTGCGCGACTGCAACAGC	0.617													16	32	---	---	---	---					
KCNT2	343450	broad.mit.edu	37	1	196303087	196303087	+	Frame_Shift_Del	DEL	A	A	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr1:196303087delA	ENST00000367433.5	-	17	1988	c.1887delT	c.(1885-1887)atfs	p.I629fs	KCNT2_ENST00000367431.4_Frame_Shift_Del_p.I579fs|KCNT2_ENST00000294725.8_Frame_Shift_Del_p.I629fs|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Frame_Shift_Del_p.I240fs			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	629						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAACAGGAGCAATGCTAGGTC	0.418													11	48	---	---	---	---					
PSME4	23198	broad.mit.edu	37	2	54122188	54122188	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:54122188delC	ENST00000404125.1	-	34	3923	c.3868delG	c.(3868-3870)aafs	p.E1291fs	PSME4_ENST00000421748.2_Frame_Shift_Del_p.E435fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1291					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGCTGCTCTTCCACACCAGCA	0.378													11	153	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179597015	179597015	+	Frame_Shift_Del	DEL	T	T	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr2:179597015delT	ENST00000589042.1	-	57	16905	c.16681delA	c.(16681-16683)ccfs	p.T5561fs	TTN_ENST00000342992.6_Frame_Shift_Del_p.T4317fs|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Frame_Shift_Del_p.T5244fs|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5244	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTAGCTGGGTGGCATCTCCC	0.408													15	142	---	---	---	---					
JADE2	23338	broad.mit.edu	37	5	133914622	133914622	+	Frame_Shift_Del	DEL	A	A	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr5:133914622delA	ENST00000395003.1	+	11	2167	c.1988delA	c.(1987-1989)gcfs	p.D663fs	PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000282605.4_Frame_Shift_Del_p.D707fs|PHF15_ENST00000361895.2_Frame_Shift_Del_p.D664fs	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		663	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGCCGGGGACTGTCCCATC	0.657													25	127	---	---	---	---					
PTCD1	26024	broad.mit.edu	37	7	99031015	99031016	+	Frame_Shift_Ins	INS	-	-	A			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:99031015_99031016insA	ENST00000292478.4	-	3	729_730	c.479_480insT	c.(478-480)gagfs	p.E160fs	ATP5J2-PTCD1_ENST00000413834.1_Frame_Shift_Ins_p.E209fs|PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_Frame_Shift_Ins_p.E209fs	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCATCTGCCTCTCAAACAGGTC	0.604													70	120	---	---	---	---					
AGAP3	116988	broad.mit.edu	37	7	150839627	150839628	+	Frame_Shift_Ins	INS	-	-	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr7:150839627_150839628insT	ENST00000397238.2	+	16	2179_2180	c.2179_2180insT	c.(2179-2181)ggcfs	p.G727fs	AGAP3_ENST00000463381.1_Frame_Shift_Ins_p.G396fs	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	691	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCCTGAGCTGCTGGCTGTCATG	0.649													17	135	---	---	---	---					
TEX15	56154	broad.mit.edu	37	8	30701975	30701975	+	Frame_Shift_Del	DEL	T	T	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr8:30701975delT	ENST00000256246.2	-	1	4633	c.4559delA	c.(4558-4560)atfs	p.N1520fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1520										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGTGGTAGTATTTTTAGTGCT	0.353													23	111	---	---	---	---					
HRCT1	646962	broad.mit.edu	37	9	35906598	35906599	+	In_Frame_Ins	INS	-	-	CCC			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:35906598_35906599insCCC	ENST00000354323.2	+	1	410_411	c.314_315insCCC	c.(313-315)ccc>cCCCcc	p.105_105P>PP		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	105	His-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccaccgcc	0.673													3	5	---	---	---	---					
LOC403323	403323	broad.mit.edu	37	9	66517908	66517908	+	RNA	DEL	C	C	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr9:66517908delC	ENST00000590130.1	-	0	277																											GGAAAACCTTCCCACTGAATG	0.478													7	47	---	---	---	---					
CACNB2	783	broad.mit.edu	37	10	18789826	18789850	+	Frame_Shift_Del	DEL	ACATGAGGCTGCAGCATGAACAGAG	ACATGAGGCTGCAGCATGAACAGAG	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:18789826_18789850delACATGAGGCTGCAGCATGAACAGAG	ENST00000396576.2	+	4	878_902	c.377_401delACATGAGGCTGCAGCATGAACAGAG	c.(376-402)aafs	p.NMRLQHEQR126fs	CACNB2_ENST00000377331.2_Frame_Shift_Del_p.NMRLQHEQR153fs|CACNB2_ENST00000377315.4_Frame_Shift_Del_p.NMRLQHEQR133fs|CACNB2_ENST00000377319.3_Frame_Shift_Del_p.NMRLQHEQR126fs|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377329.4_Frame_Shift_Del_p.NMRLQHEQR127fs|CACNB2_ENST00000352115.6_Frame_Shift_Del_p.NMRLQHEQR181fs|CACNB2_ENST00000324631.7_Frame_Shift_Del_p.NMRLQHEQR181fs|CACNB2_ENST00000282343.8_Frame_Shift_Del_p.NMRLQHEQR153fs	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	181	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAACTAGAAAACATGAGGCTGCAGCATGAACAGAGAGCCAAGCAA	0.400													13	58	---	---	---	---					
C10orf71	118461	broad.mit.edu	37	10	50530859	50530859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:50530859delC	ENST00000374144.3	+	3	557	c.269delC	c.(268-270)agfs	p.T90fs	C10orf71_ENST00000323868.4_Frame_Shift_Del_p.T90fs			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	90										endometrium(1)	1						TCACAGGGCACGGAACATTCG	0.577													19	64	---	---	---	---					
RP11-34D15.2	0	broad.mit.edu	37	10	102104601	102104601	+	RNA	DEL	T	T	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr10:102104601delT	ENST00000429420.1	-	0	103																											AAAATCACAAttttttttttt	0.403													2	4	---	---	---	---					
OR5J2	282775	broad.mit.edu	37	11	55944383	55944383	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:55944383delG	ENST00000312298.1	+	1	290	c.290delG	c.(289-291)tcfs	p.C97fs		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TTCTCTGCTTGCATGGTACAG	0.468													13	41	---	---	---	---					
C11orf63	79864	broad.mit.edu	37	11	122775073	122775074	+	Frame_Shift_Ins	INS	-	-	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr11:122775073_122775074insT	ENST00000227349.2	+	3	1082_1083	c.785_786insT	c.(784-786)attfs	p.I262fs	C11orf63_ENST00000531316.1_Frame_Shift_Ins_p.I262fs|C11orf63_ENST00000307257.6_Frame_Shift_Ins_p.I262fs	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	262										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AACAAGCTCACTTTGGGATTAC	0.441													54	311	---	---	---	---					
SRRM2	23524	broad.mit.edu	37	16	2813458	2813458	+	Frame_Shift_Del	DEL	A	A	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:2813458delA	ENST00000301740.8	+	11	3478	c.2929delA	c.(2929-2931)ccfs	p.T977fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	977	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCACCAGATACCAAAGTGAA	0.498													25	202	---	---	---	---					
CLEC18B	497190	broad.mit.edu	37	16	74447479	74447479	+	Frame_Shift_Del	DEL	G	G	-	rs149591176	byFrequency	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr16:74447479delG	ENST00000339953.5	-	4	673	c.552delC	c.(550-552)ccfs	p.P184fs		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	184						extracellular region	sugar binding	p.P184P(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGGCTTACCCGGGGGAGTAGG	0.607													9	127	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													3	5	---	---	---	---					
BLMH	642	broad.mit.edu	37	17	28599581	28599582	+	Frame_Shift_Ins	INS	-	-	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:28599581_28599582insT	ENST00000261714.6	-	9	1199_1200	c.1025_1026insA	c.(1024-1026)actfs	p.T342fs	BLMH_ENST00000394819.3_Frame_Shift_Ins_p.T255fs	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	342					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						GCACTCACAGATTCATGTCACT	0.426													75	278	---	---	---	---					
COIL	8161	broad.mit.edu	37	17	55028117	55028118	+	Frame_Shift_Ins	INS	-	-	T			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:55028117_55028118insT	ENST00000240316.4	-	2	519_520	c.485_486insA	c.(484-486)aaafs	p.K162fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	162						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTTTTCTCTTGTTTTTTTTGCT	0.366													8	279	---	---	---	---					
GGA3	23163	broad.mit.edu	37	17	73235600	73235601	+	In_Frame_Ins	INS	-	-	GGT	rs150787028	by1000genomes	TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr17:73235600_73235601insGGT	ENST00000245541.6	-	14	1851_1852	c.1635_1636insACC	c.(1633-1638)accagc>acACCcagc	p.545_546TS>TPS	GGA3_ENST00000578348.1_In_Frame_Ins_p.423_424TS>TPS|GGA3_ENST00000582717.1_In_Frame_Ins_p.473_474TS>TPS|GGA3_ENST00000582486.1_In_Frame_Ins_p.473_474TS>TPS|GGA3_ENST00000538886.1_In_Frame_Ins_p.423_424TS>TPS|GGA3_ENST00000351904.7_In_Frame_Ins_p.512_513TS>TPS	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	545	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGCCTGGCTGGGGTGGTGGTGG	0.673											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	5	---	---	---	---					
ROCK1	6093	broad.mit.edu	37	18	18622550	18622550	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr18:18622550delC	ENST00000399799.1	-	7	1736	c.796delG	c.(796-798)tafs	p.V266fs		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	266	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TATAAAAATACCCCAACCGAC	0.383													7	35	---	---	---	---					
MAN2B1	4125	broad.mit.edu	37	19	12774515	12774515	+	Splice_Site	DEL	A	A	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr19:12774515delA	ENST00000456935.2	-	5	804		c.e5+1		MAN2B1_ENST00000221363.4_Splice_Site	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1						protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAAGCCCCCTACCAGTGAAGA	0.587													5	11	---	---	---	---					
SUN5	140732	broad.mit.edu	37	20	31577467	31577467	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr20:31577467delC	ENST00000356173.3	-	9	664	c.572delG	c.(571-573)gafs	p.G191fs	SUN5_ENST00000375523.3_Frame_Shift_Del_p.G166fs	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	191					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GATGTAATCTCCGTGTATCAT	0.488													12	71	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36737461	36737462	+	Frame_Shift_Ins	INS	-	-	G			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chr22:36737461_36737462insG	ENST00000216181.5	-	3	673_674	c.443_444insC	c.(442-444)ccafs	p.P148fs	MYH9_ENST00000401701.1_Frame_Shift_Ins_p.P148fs	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	148	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CATAGATGTGAGGGGGCATCTC	0.530			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				12	115	---	---	---	---					
DGKK	139189	broad.mit.edu	37	X	50127908	50127908	+	RNA	DEL	G	G	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:50127908delG	ENST00000376025.2	-	0	2407							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					atggaaggaaggaaagaTTAA	0.433													9	4	---	---	---	---					
ATP11C	286410	broad.mit.edu	37	X	138827926	138827926	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4632-01A-01D-1753-08	TCGA-38-4632-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83519ed1-29e2-4f1b-922c-5779f64178bc	8709a767-d5d1-4ab8-aa7a-085c742d1e85	g.chrX:138827926delC	ENST00000370557.1	-	25	3937	c.2910delG	c.(2908-2910)ggfs	p.G970fs	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Frame_Shift_Del_p.G976fs|ATP11C_ENST00000370543.1_Frame_Shift_Del_p.G976fs|ATP11C_ENST00000327569.3_Frame_Shift_Del_p.G976fs|ATP11C_ENST00000359686.2_Frame_Shift_Del_p.G976fs			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	976					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G976G(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GAAAGTAAGTCCCAAAGAAGA	0.388													11	27	---	---	---	---					
