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
PIGH	5283	broad.mit.edu	37	14	68059435	68059435	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:68059435G>A	ENST00000216452.4	-	3	474	c.390_splice	c.e3-1	p.Q131_splice	PIGH_ENST00000559581.1_Splice_Site_p.Q92_splice|PIGH_ENST00000560722.1_Intron	NM_004569.3	NP_004560.1	Q14442	PIGH_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class H	131					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|mitochondrion|nucleolus	phosphatidylinositol N-acetylglucosaminyltransferase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4				all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933)		ATCACCTTCTGCTGTAAGAAA	0.348000													19	27					0	0	7.07596e-05	0	0
MYH8	4626	broad.mit.edu	37	17	10297626	10297626	+	Silent	SNP	C	C	T	rs140525529		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr17:10297626C>T	ENST00000403437.2	-	35	5200	c.5106G>A	c.(5104-5106)agG>agA	p.R1702R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1702					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1702R(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CGGCGATTTTCCTGCTTCTCT	0.567000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				18	43					0	0	0.000375601	0	0
NDST3	9348	broad.mit.edu	37	4	119145709	119145709	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:119145709G>C	ENST00000296499.5	+	7	2006	c.1603G>C	c.(1603-1605)Gtt>Ctt	p.V535L	NDST3_ENST00000433996.2_Missense_Mutation_p.V454L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	535	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATATACATTTGTTAATCTGGC	0.413000													11	55					0	0	3.86212e-05	0	0
RGS12	6002	broad.mit.edu	37	4	3427272	3427272	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:3427272C>T	ENST00000336727.3	+	14	4220	c.3316C>T	c.(3316-3318)Cct>Tct	p.P1106S	RGS12_ENST00000538395.1_Missense_Mutation_p.P448S|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000344733.5_Missense_Mutation_p.P1106S|RGS12_ENST00000338806.4_Missense_Mutation_p.P458S|RGS12_ENST00000306648.7_Missense_Mutation_p.P504S|RGS12_ENST00000382788.3_Missense_Mutation_p.P1106S	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1106						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGAGAAGGATCCTTCCAGAGG	0.632000													27	29					0	0	0.000147802	0	0
MIR410	574434	broad.mit.edu	37	14	101532269	101532269	+	RNA	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:101532269C>T	ENST00000362222.2	+	0	21					NR_030156.1																						AAGAGGTTGTCTGTGATGAGT	0.607000													11	19					0	0	6.40141e-05	0	0
ABCA12	26154	broad.mit.edu	37	2	215914452	215914452	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:215914452G>A	ENST00000272895.7	-	6	810	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	197					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGGTCCAAGAGAAGGCATCAT	0.363000													23	22					0	0	0.00047179	0	0
SMARCD3	6604	broad.mit.edu	37	7	150939873	150939873	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:150939873C>T	ENST00000392811.2	-	5	825	c.351G>A	c.(349-351)agG>agA	p.R117R	SMARCD3_ENST00000262188.8_Silent_p.R130R|SMARCD3_ENST00000356800.2_Silent_p.R117R|SMARCD3_ENST00000477169.1_5'UTR	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	130					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATCCAGTTTCCTCTCAAATG	0.577000													31	63					0	0	0.000279167	0	0
ZZEF1	23140	broad.mit.edu	37	17	4020305	4020305	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr17:4020305G>A	ENST00000381638.2	-	3	779	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	219							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GACTCCTTCAGGACGGAAGAC	0.517000													48	114					0	0	0.000147903	0	0
PSD2	84249	broad.mit.edu	37	5	139217314	139217314	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:139217314C>T	ENST00000274710.3	+	12	1975	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	590	PH.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGAAGTCCAACGTGCTGA	0.592000													15	15					0	0	0.000308642	0	0
CNTN5	53942	broad.mit.edu	37	11	100211269	100211269	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:100211269C>T	ENST00000524871.1	+	22	3095	c.2805C>T	c.(2803-2805)gtC>gtT	p.V935V	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Silent_p.V935V|CNTN5_ENST00000418526.2_Silent_p.V861V|CNTN5_ENST00000528682.1_Silent_p.V935V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	935	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGTCTTTCGTCATCCTAACAG	0.433000													10	5					0	0	3.86212e-05	0	0
LILRB4	11006	broad.mit.edu	37	19	55177365	55177365	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:55177365G>A	ENST00000391736.1	+	9	1172	c.857G>A	c.(856-858)gGa>gAa	p.G286E	LILRB4_ENST00000391733.3_Missense_Mutation_p.G286E|LILRB4_ENST00000391734.3_Missense_Mutation_p.G286E|LILRB4_ENST00000430952.2_Missense_Mutation_p.G286E|LILRB4_ENST00000270452.2_Missense_Mutation_p.G286E	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	286						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGGCGTCAGGGAAAACACAGG	0.587000													16	33					0	0	0.000422831	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12921165	12921165	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:12921165T>C	ENST00000221486.4	+	6	678	c.584T>C	c.(583-585)tTc>tCc	p.F195S		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	195					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						AAATGGCAGTTCGTGGAGAAA	0.552000													20	44					0	0	0.000375601	0	0
TTN	7273	broad.mit.edu	37	2	179598197	179598197	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:179598197C>T	ENST00000589042.1	-	54	16047	c.15823G>A	c.(15823-15825)Gga>Aga	p.G5275R	TTN_ENST00000342992.6_Missense_Mutation_p.G4031R|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G4958R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4958	Ig-like 33.						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)			GCGGGATCTCCTGCTGTCACC	0.483000													44	135					0	0	0.000147903	0	0
TMEM108	66000	broad.mit.edu	37	3	133099154	133099154	+	Missense_Mutation	SNP	G	G	A	rs140878635		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:133099154G>A	ENST00000515826.1	+	3	722	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.R200Q|TMEM108_ENST00000321871.6_Missense_Mutation_p.R200Q			Q6UXF1	TM108_HUMAN	transmembrane protein 108	200						integral to membrane		p.R200Q(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CAGCGAGGACGAAATCCAAGC	0.592000													12	19					0	0	6.40141e-05	0	0
SLC25A27	9481	broad.mit.edu	37	6	46623672	46623672	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:46623672C>T	ENST00000371347.5	+	2	451	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	SLC25A27_ENST00000411689.2_Missense_Mutation_p.P67S|SLC25A27_ENST00000452689.2_5'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	67					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			AGAATCTGCCCCCTATAGGGG	0.507000													112	71					0	0	0.000147903	0	0
SPAG6	9576	broad.mit.edu	37	10	22678203	22678203	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:22678203C>T	ENST00000376603.2	+	7	1337	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.H298Y|SPAG6_ENST00000313311.6_Missense_Mutation_p.H323Y|SPAG6_ENST00000376624.3_Missense_Mutation_p.H323Y|SPAG6_ENST00000376601.1_Intron			O75602	SPAG6_HUMAN	sperm associated antigen 6	323					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TGTAGCAGCTCATTCTGAGAA	0.463000													16	23					0	0	0.000566183	0	0
LIPH	200879	broad.mit.edu	37	3	185252757	185252757	+	Silent	SNP	G	G	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:185252757G>T	ENST00000296252.4	-	2	354	c.213C>A	c.(211-213)acC>acA	p.T71T	LIPH_ENST00000424591.2_Silent_p.T71T	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	71					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAATGAAGGTGGTTTTCTTGG	0.463000													13	610					0.000422831	0.00633251	0.000422831	1	0
DNAH11	8701	broad.mit.edu	37	7	21721170	21721170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:21721170C>T	ENST00000328843.6	+	31	5381	c.5350C>T	c.(5350-5352)Cag>Tag	p.Q1784*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.Q1779*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1784	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTAGATTTCTCAGCTGAATAC	0.378000									Kartagener syndrome				8	28					0	0	0.000157383	0	0
AGFG2	3268	broad.mit.edu	37	7	100160517	100160517	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:100160517C>T	ENST00000300176.4	+	9	1241	c.1119C>T	c.(1117-1119)gcC>gcT	p.A373A	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	373	Pro-rich.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTCCCGCCGCCCAGTCCCCGC	0.582000													8	13					0	0	6.40141e-05	0	0
OR52R1	119695	broad.mit.edu	37	11	4824842	4824842	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:4824842G>A	ENST00000380382.1	-	1	1005	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.P257S			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAAGGGCTGGGATATAAAGA	0.483000													26	47					0	0	9.22233e-05	0	0
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363000													4	48					0	0	8.12818e-05	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99019293	99019293	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:99019293G>A	ENST00000453547.2	-	5	705	c.706C>T	c.(706-708)Cct>Tct	p.P236S	ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.P236S|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.P236S|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.P227S|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.P227S|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.P236S																							TTAGGAGGAGGGAGAATGAGG	0.423000													30	48					0	0	0.000184323	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		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)			62	43					0	0	0.000147903	0	0
ZNF284	342909	broad.mit.edu	37	19	44586179	44586179	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:44586179C>T	ENST00000421176.3	+	4	372	c.156C>T	c.(154-156)tcC>tcT	p.S52S	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ATCAACTTTCCCACCGAGATA	0.403000													11	40					0	0	0.00010058	0	0
PLCG1	5335	broad.mit.edu	37	20	39794389	39794389	+	Silent	SNP	C	C	T	rs146548575		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:39794389C>T	ENST00000373272.2	+	16	2127	c.1722C>T	c.(1720-1722)atC>atT	p.I574I	PLCG1_ENST00000244007.3_Silent_p.I574I|PLCG1_ENST00000373271.1_Silent_p.I574I	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	574	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AGTACTGCATCGAGACCGGAG	0.597000													18	28					0	0	0.000132079	0	0
XIST	7503	broad.mit.edu	37	X	73063804	73063804	+	RNA	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:73063804G>A	ENST00000429829.1	-	0	8784					NR_001564.2																						GCCTTGGAGGGAAACAGTATA	0.383000													12	25					0	0	6.40141e-05	0	0
WNK3	65267	broad.mit.edu	37	X	54263451	54263451	+	Silent	SNP	T	T	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:54263451T>C	ENST00000354646.2	-	20	4986	c.4548A>G	c.(4546-4548)ccA>ccG	p.P1516P	WNK3_ENST00000375169.3_Silent_p.P1469P|WNK3_ENST00000375159.2_Silent_p.P1516P	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1469					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTGGGGAAGATGGCGAATAGA	0.428000													68	139					0	0	0.000147903	0	0
ERC2	26059	broad.mit.edu	37	3	56053050	56053050	+	Silent	SNP	A	A	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:56053050A>G	ENST00000288221.6	-	8	1906	c.1651T>C	c.(1651-1653)Ttg>Ctg	p.L551L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	551						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTTCTTGCAAGTTTTCAATC	0.338000													5	14					0	0	0.000602214	0	0
TIAM2	26230	broad.mit.edu	37	6	155569309	155569309	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:155569309G>A	ENST00000461783.3	+	22	5101	c.3828G>A	c.(3826-3828)ctG>ctA	p.L1276L	TIAM2_ENST00000456144.1_Silent_p.L1276L|TIAM2_ENST00000456877.2_Silent_p.L588L|TIAM2_ENST00000529824.2_Silent_p.L1276L|TIAM2_ENST00000528391.2_Silent_p.L612L|TIAM2_ENST00000275246.7_Silent_p.L201L|TIAM2_ENST00000318981.5_Silent_p.L1276L|TIAM2_ENST00000360366.4_Silent_p.L1300L|TIAM2_ENST00000367174.2_Silent_p.L652L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1276	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		ACTACCACCTGACGGGTGAGG	0.692000											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	19					0	0	9.22233e-05	0	0
ENPEP	2028	broad.mit.edu	37	4	111474533	111474533	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:111474533G>A	ENST00000265162.5	+	18	2906	c.2564G>A	c.(2563-2565)cGa>cAa	p.R855Q		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	855					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.R855Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACAGTCATTCGATATATCTCA	0.393000													31	64					0	0	0.000279167	0	0
ZNF347	84671	broad.mit.edu	37	19	53645330	53645330	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:53645330C>G	ENST00000452676.2	-	5	1180	c.754G>C	c.(754-756)Ggg>Cgg	p.G252R	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.G252R|ZNF347_ENST00000334197.7_Missense_Mutation_p.G251R	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GCTTTTTGCCCCTGTGTGAGT	0.373000													4	110					0	0	0.00024832	0	0
C1orf173	127254	broad.mit.edu	37	1	75039077	75039077	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:75039077C>T	ENST00000326665.5	-	14	2535	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	773	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCATTGCTTCTTTCTTCTCC	0.473000													41	39					0	0	0.000147903	0	0
TRAV10	28676	broad.mit.edu	37	14	22293674	22293674	+	RNA	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:22293674G>A	ENST00000390432.2	+	0	39																											GAATAAAAATGAAAAAGCATC	0.353000													46	74					0	0	0.000147903	0	0
SCIN	85477	broad.mit.edu	37	7	12683911	12683911	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:12683911C>T	ENST00000297029.5	+	12	1831	c.1730C>T	c.(1729-1731)aCc>aTc	p.T577I	SCIN_ENST00000445618.2_Missense_Mutation_p.T330I|SCIN_ENST00000519209.1_Missense_Mutation_p.T330I	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	577	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AAGTGCAAAACCTTAAGGATC	0.458000													5	10					0	0	0.000602214	0	0
LPHN2	23266	broad.mit.edu	37	1	82372860	82372860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:82372860C>T	ENST00000370728.1	+	6	877	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	LPHN2_ENST00000370723.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.Q78*			O95490	LPHN2_HUMAN	latrophilin 2	78	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGACCCATTTCAGATGGAGAA	0.423000													6	51					0	0	0.000442599	0	0
TTC30B	150737	broad.mit.edu	37	2	178417083	178417083	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:178417083C>T	ENST00000408939.2	-	1	659	c.409G>A	c.(409-411)Gag>Aag	p.E137K		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	137					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GGCAGCTGCTCTACCAGGCTC	0.602000													53	62					0	0	0.000147903	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717691	142717691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:142717691G>A	ENST00000381779.4	-	2	1459	c.1234C>T	c.(1234-1236)Caa>Taa	p.Q412*	SLITRK4_ENST00000338017.4_Nonsense_Mutation_p.Q412*|SLITRK4_ENST00000356928.1_Nonsense_Mutation_p.Q412*	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	412						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGTAATTTGATTGCTGCCT	0.398000													40	89					0	0	0.000374591	0	0
DDB1	1642	broad.mit.edu	37	11	61083814	61083814	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:61083814G>A	ENST00000301764.7	-	12	1750	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	451	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GATCATCCACGAAACCCATCA	0.502000								Nucleotide excision repair (NER)					68	96					0	0	0.000147903	0	0
SMARCD3	6604	broad.mit.edu	37	7	150939874	150939874	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:150939874C>T	ENST00000392811.2	-	5	824	c.350G>A	c.(349-351)aGg>aAg	p.R117K	SMARCD3_ENST00000262188.8_Missense_Mutation_p.R130K|SMARCD3_ENST00000356800.2_Missense_Mutation_p.R117K|SMARCD3_ENST00000477169.1_5'UTR	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	130					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCCAGTTTCCTCTCAAATGC	0.577000													31	63					0	0	0.000279167	0	0
TLR8	51311	broad.mit.edu	37	X	12939833	12939833	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:12939833T>A	ENST00000218032.6	+	2	2761	c.2674T>A	c.(2674-2676)Tct>Act	p.S892T	TLR8_ENST00000311912.5_Missense_Mutation_p.S910T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	892	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAAAGATGCCTCTGTTACTGA	0.433000													45	91					0	0	0.000147903	0	0
PAN2	9924	broad.mit.edu	37	12	56711414	56711414	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:56711414G>T	ENST00000425394.2	-	26	3964	c.3588C>A	c.(3586-3588)ttC>ttA	p.F1196L	PAN2_ENST00000548043.1_Missense_Mutation_p.F1196L|PAN2_ENST00000440411.3_Missense_Mutation_p.F1192L|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000257931.5_Missense_Mutation_p.F1195L	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1196					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCACTGAGGAGAAGACAGCTG	0.478000													19	49					1.56452e-12	2.39964e-11	9.7654e-05	1	0
SLC6A14	11254	broad.mit.edu	37	X	115568959	115568959	+	Splice_Site	SNP	A	A	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:115568959A>G	ENST00000371900.4	+	2	138	c.48_splice	c.e2-1	p.K17_splice		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	17					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CTTCCCCAGAAAGTGTCGGCT	0.383000													97	215					0	0	0.000147903	0	0
RGS11	8786	broad.mit.edu	37	16	321436	321436	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:321436C>T	ENST00000397770.3	-	11	728	c.711G>A	c.(709-711)ctG>ctA	p.L237L	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.L226L|RGS11_ENST00000316163.5_Silent_p.L216L			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	237	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGGTCCTGCCCAGCGCTTTCC	0.647000													5	12					0	0	0.000602214	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083709	42083709	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:42083709G>A	ENST00000187608.9	+	2	262	c.222G>A	c.(220-222)gaG>gaA	p.E74E	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000401445.2_Silent_p.E74E	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021.2	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	74						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						AAACGGTGGAGCCCAACCAGC	0.502000													7	27					0	0	0.000157383	0	0
SLC35F3	148641	broad.mit.edu	37	1	234452365	234452365	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:234452365C>T	ENST00000366618.3	+	5	991	c.846C>T	c.(844-846)ctC>ctT	p.L282L	SLC35F3_ENST00000366617.3_Silent_p.L213L	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	213					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCGCCATCCTCGCCATCGCTG	0.577000													243	111					0	0	0.000147903	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	37					0	0	0.000157383	0	0
ERAP2	64167	broad.mit.edu	37	5	96253210	96253210	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:96253210G>A	ENST00000437043.3	+	19	3495	c.2784G>A	c.(2782-2784)ctG>ctA	p.L928L	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Silent_p.L883L	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	928					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GATCACATCTGGATATTTTTC	0.353000													37	61					0	0	0.000437636	0	0
OR5D16	390144	broad.mit.edu	37	11	55606288	55606288	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:55606288G>A	ENST00000378396.1	+	1	61	c.61G>A	c.(61-63)Gat>Aat	p.D21N		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GGGCTTCTCAGATTACCTGGA	0.413000													33	45					0	0	0.00058488	0	0
UGT1A1	54658	broad.mit.edu	37	2	234676527	234676527	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:234676527G>A	ENST00000360418.3	+	3	1029	c.1029G>A	c.(1027-1029)tcG>tcA	p.S343S	UGT1A5_ENST00000373414.3_Silent_p.S344S|UGT1A1_ENST00000305208.5_Silent_p.S343S|UGT1A6_ENST00000406651.1_Silent_p.S75S|UGT1A4_ENST00000373409.3_Silent_p.S344S|UGT1A3_ENST00000482026.1_Silent_p.S344S|UGT1A6_ENST00000373424.1_Silent_p.S75S|UGT1A7_ENST00000373426.3_Silent_p.S340S|UGT1A10_ENST00000373445.1_Silent_p.S340S|UGT1A8_ENST00000373450.4_Silent_p.S340S|UGT1A9_ENST00000354728.4_Silent_p.S340S|UGT1A10_ENST00000344644.5_Silent_p.S340S|UGT1A6_ENST00000305139.6_Silent_p.S342S			P22309	UD11_HUMAN		343					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCCGACCATCGAATCTTGCGA	0.443000													38	58					0	0	0.000147903	0	0
ELN	2006	broad.mit.edu	37	7	73456982	73456982	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:73456982C>T	ENST00000252034.7	+	6	670	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	ELN_ENST00000458204.1_Silent_p.L81L|ELN_ENST00000380584.4_Silent_p.L91L|ELN_ENST00000357036.5_Silent_p.L91L|ELN_ENST00000320399.6_Silent_p.L91L|ELN_ENST00000358929.4_Silent_p.L91L|ELN_ENST00000414324.1_Silent_p.L81L|ELN_ENST00000380562.4_Silent_p.L91L|ELN_ENST00000320492.7_Silent_p.L79L|ELN_ENST00000380575.4_Silent_p.L81L|ELN_ENST00000380553.4_Intron|ELN_ENST00000445912.1_Silent_p.L91L|ELN_ENST00000429192.1_Silent_p.L91L|ELN_ENST00000380576.5_Silent_p.L91L	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	91					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCCGGGGGCTCTGGTGCCTGG	0.617000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						13	29					0	0	0.000219431	0	0
ZNF142	7701	broad.mit.edu	37	2	219508403	219508403	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:219508403G>A	ENST00000411696.2	-	7	3615	c.2836C>T	c.(2836-2838)Ccc>Tcc	p.P946S	ZNF142_ENST00000449707.1_Missense_Mutation_p.P946S			P52746	ZN142_HUMAN	zinc finger protein 142	946					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGCTCCCTGGGAAGCTCCAAA	0.567000													30	88					0	0	0.000132358	0	0
TCF4	6925	broad.mit.edu	37	18	53128261	53128261	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr18:53128261G>A	ENST00000354452.3	-	5	904	c.293C>T	c.(292-294)tCc>tTc	p.S98F	RP11-619L19.1_ENST00000587660.1_RNA|TCF4_ENST00000537578.1_Missense_Mutation_p.S74F|TCF4_ENST00000568673.1_Missense_Mutation_p.S74F|TCF4_ENST00000565018.2_Missense_Mutation_p.S98F|TCF4_ENST00000568740.1_Missense_Mutation_p.S74F|TCF4_ENST00000564999.1_Missense_Mutation_p.S98F|TCF4_ENST00000543082.1_Missense_Mutation_p.S56F|TCF4_ENST00000398339.1_Missense_Mutation_p.S200F|TCF4_ENST00000566286.1_Missense_Mutation_p.S96F|TCF4_ENST00000567880.1_Missense_Mutation_p.S98F|TCF4_ENST00000540999.1_Missense_Mutation_p.S74F|TCF4_ENST00000356073.4_Missense_Mutation_p.S98F|TCF4_ENST00000566279.1_Missense_Mutation_p.S98F|TCF4_ENST00000564403.2_Missense_Mutation_p.S98F	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	98					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTGTATTCTGGAATTGACAAA	0.388000													11	19					0	0	6.40141e-05	0	0
ALG5	29880	broad.mit.edu	37	13	37524141	37524141	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr13:37524141A>T	ENST00000239891.3	-	10	979	c.913T>A	c.(913-915)Ttt>Att	p.F305I	ALG5_ENST00000443765.1_Missense_Mutation_p.F275I	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	305					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		AGTCGTATAAAAAGTAGGTCT	0.353000													24	76					0	0	0.000409698	0	0
ZNF283	284349	broad.mit.edu	37	19	44339683	44339683	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:44339683C>T	ENST00000324461.7	+	5	446	c.149C>T	c.(148-150)tCa>tTa	p.S50L	ZNF283_ENST00000590950.1_Missense_Mutation_p.S25L|ZNF283_ENST00000310738.8_Missense_Mutation_p.S14L|ZNF283_ENST00000593268.1_Missense_Mutation_p.S50L|ZNF283_ENST00000588797.1_5'UTR|ZNF283_ENST00000586976.1_3'UTR|ZNF283_ENST00000593164.1_Missense_Mutation_p.S25L	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TTCTGTGCTTCACCAATAGAG	0.418000													8	13					0	0	0.000157383	0	0
SOGA2	23255	broad.mit.edu	37	18	8718623	8718623	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr18:8718623C>T	ENST00000359865.3	+	3	317	c.175C>T	c.(175-177)Cga>Tga	p.R59*	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Nonsense_Mutation_p.R419*|SOGA2_ENST00000400050.3_Nonsense_Mutation_p.R59*|SOGA2_ENST00000517570.1_Nonsense_Mutation_p.R59*	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	410																	TGAGCTTATTCGAAGCCTGGA	0.572000													16	33					0	0	0.000132079	0	0
GPR158	57512	broad.mit.edu	37	10	25887955	25887955	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:25887955C>T	ENST00000376351.3	+	11	3759	c.3400C>T	c.(3400-3402)Ctc>Ttc	p.L1134F	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1134						integral to membrane|plasma membrane	G-protein coupled receptor activity			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						GAATGAAAATCTCAACCAAAT	0.463000													9	30					0	0	0.000442599	0	0
QTRT1	81890	broad.mit.edu	37	19	10812143	10812143	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:10812143G>A	ENST00000250237.5	+	1	17	c.7G>A	c.(7-9)Gga>Aga	p.G3R	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	3					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CAAGATGGCGGGAGCAGCTAC	0.697000													4	10					0	0	0.00024832	0	0
DOCK9	23348	broad.mit.edu	37	13	99461655	99461655	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr13:99461655G>A	ENST00000376460.1	-	48	5398	c.5318C>T	c.(5317-5319)tCg>tTg	p.S1773L	DOCK9_ENST00000339416.2_Missense_Mutation_p.S1774L|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1774	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTGCGGCCCGAGTGCATGAC	0.552000													45	38					0	0	0.000147903	0	0
CDH6	1004	broad.mit.edu	37	5	31299714	31299714	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:31299714G>A	ENST00000265071.2	+	5	1052	c.787G>A	c.(787-789)Gac>Aac	p.D263N	CDH6_ENST00000514738.1_Missense_Mutation_p.D208N	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	263	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGATGTCAACGACAACCCTCC	0.438000													20	27					0	0	0.000586117	0	0
ATXN7	6314	broad.mit.edu	37	3	63968664	63968664	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:63968664C>T	ENST00000398590.3	+	8	1615	c.1062C>T	c.(1060-1062)acC>acT	p.T354T	ATXN7_ENST00000484332.1_Silent_p.T209T|ATXN7_ENST00000487717.1_Silent_p.T354T|ATXN7_ENST00000538065.1_Silent_p.T354T|ATXN7_ENST00000295900.6_Silent_p.T354T	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	354	SCA7.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ATCTCGACACCAAGAAGCCCT	0.488000													39	73					0	0	0.000147903	0	0
RERGL	79785	broad.mit.edu	37	12	18234137	18234137	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:18234137C>T	ENST00000229002.2	-	6	812	c.606G>A	c.(604-606)agG>agA	p.R202R	RERGL_ENST00000538724.1_Silent_p.R201R	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	202	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						AAACAGATTTCCTTCTCTTTC	0.333000													15	24					0	0	0.000422831	0	0
RGS12	6002	broad.mit.edu	37	4	3427273	3427273	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:3427273C>T	ENST00000336727.3	+	14	4221	c.3317C>T	c.(3316-3318)cCt>cTt	p.P1106L	RGS12_ENST00000538395.1_Missense_Mutation_p.P448L|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000344733.5_Missense_Mutation_p.P1106L|RGS12_ENST00000338806.4_Missense_Mutation_p.P458L|RGS12_ENST00000306648.7_Missense_Mutation_p.P504L|RGS12_ENST00000382788.3_Missense_Mutation_p.P1106L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1106						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGAAGGATCCTTCCAGAGGA	0.632000													27	27					0	0	0.000184323	0	0
BSND	7809	broad.mit.edu	37	1	55472797	55472797	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:55472797C>T	ENST00000371265.4	+	3	654	c.400C>T	c.(400-402)Cct>Tct	p.P134S		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	134						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CTTGCTGGCCCCTGAGATGGG	0.617000													5	29					0	0	0.000602214	0	0
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	by1000genomes	TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527000													5	53					0	0	0.000602214	0	0
SNHG14	104472715	broad.mit.edu	37	15	25326479	25326479	+	RNA	SNP	A	A	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr15:25326479A>G	ENST00000546682.1	+	0	71				SNORD116-15_ENST00000384445.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						AAAGCTGAACAAAATGAGTGA	0.448000													23	69					0	0	0.000117367	0	0
NOS1	4842	broad.mit.edu	37	12	117696239	117696239	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:117696239C>T	ENST00000317775.6	-	16	3179	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.E832K	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	832	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGCCTCATTTCCATCAAAGCA	0.498000													10	29					0	0	0.000219431	0	0
DSCAM	1826	broad.mit.edu	37	21	41710126	41710126	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr21:41710126G>A	ENST00000400454.1	-	8	2162	c.1685C>T	c.(1684-1686)tCa>tTa	p.S562L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	562	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGCACATCTGAAAGTTTAAG	0.483000													23	57					0	0	0.000375601	0	0
ABI1	10006	broad.mit.edu	37	10	27052880	27052880	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:27052880G>A	ENST00000355394.4	-	8	1056	c.833C>T	c.(832-834)tCt>tTt	p.S278F	ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376134.3_Intron|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000376170.4_Intron|ABI1_ENST00000376160.1_Intron|ABI1_ENST00000346832.5_Missense_Mutation_p.S294F|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376140.3_Intron|ABI1_ENST00000359188.4_Intron|ABI1_ENST00000376139.2_Intron|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376142.2_Missense_Mutation_p.S277F			Q8IZP0	ABI1_HUMAN	abl-interactor 1	277	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGAGGGACAGAAATGTTTTC	0.423000													19	49					0	0	0.000132079	0	0
SERPINA9	327657	broad.mit.edu	37	14	94929550	94929550	+	Silent	SNP	C	C	T	rs139618805	by1000genomes	TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:94929550C>T	ENST00000337425.5	-	5	1262	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	SERPINA9_ENST00000298845.7_Silent_p.S296S|SERPINA9_ENST00000448305.2_Silent_p.S298S|SERPINA9_ENST00000380365.3_Silent_p.S378S|SERPINA9_ENST00000424550.2_Silent_p.S247S|RP11-349I1.2_ENST00000536735.1_RNA	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	378					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	p.S396S(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGCCATCCTTCGATCGGACTA	0.498000													24	55					0	0	0.000184323	0	0
COL21A1	81578	broad.mit.edu	37	6	56035800	56035800	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:56035800C>T	ENST00000244728.5	-	4	1164	c.767G>A	c.(766-768)gGa>gAa	p.G256E	COL21A1_ENST00000370819.1_Missense_Mutation_p.G256E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G256E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	256	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			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)			TACTTCATATCCTTTTATCTT	0.338000													21	76					0	0	0.000229342	0	0
KLHL24	54800	broad.mit.edu	37	3	183368779	183368779	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:183368779T>C	ENST00000454652.1	+	4	1021	c.635T>C	c.(634-636)cTt>cCt	p.L212P	KLHL24_ENST00000242810.6_Missense_Mutation_p.L212P|KLHL24_ENST00000476808.1_Missense_Mutation_p.L212P			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	212	BACK.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AAAGATGAACTTATTGATTAT	0.378000													28	71					0	0	0.000491102	0	0
KIAA1328	57536	broad.mit.edu	37	18	34802140	34802140	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr18:34802140C>T	ENST00000591619.1	+	10	2458	c.1672C>T	c.(1672-1674)Cct>Tct	p.P558S	KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000280020.5_Missense_Mutation_p.P562S|KIAA1328_ENST00000543923.1_Intron			Q86T90	K1328_HUMAN	KIAA1328	562										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GCACAGAACCCCTGAAGAGTT	0.433000													3	5					0	0	6.4e-05	0	0
DNAH3	55567	broad.mit.edu	37	16	21008662	21008662	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:21008662C>T	ENST00000261383.3	-	44	6543	c.6544G>A	c.(6544-6546)Gac>Aac	p.D2182N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2182	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCAGCATGTCCACGATGTCC	0.557000													24	31					0	0	9.22233e-05	0	0
OR51B2	79345	broad.mit.edu	37	11	5344634	5344634	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:5344634T>G	ENST00000328813.2	-	1	948	c.894A>C	c.(892-894)caA>caC	p.Q298H	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAATGCCATATTGTATTTGCT	0.373000													19	35					0	0	0.000375601	0	0
ZFP36L1	677	broad.mit.edu	37	14	69262883	69262883	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:69262883C>T	ENST00000408913.2	-	1	307	c.129G>A	c.(127-129)agG>agA	p.R43R				Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	297					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGAGCGCGTCCCTTCGTGGGG	0.662000													16	29					0	0	9.7654e-05	0	0
RB1	5925	broad.mit.edu	37	13	48953779	48953779	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr13:48953779T>C	ENST00000267163.4	+	14	1520	c.1382T>C	c.(1381-1383)cTt>cCt	p.L461P		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	461	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAATCCATGCTTAAATCAGTA	0.418000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			22	19					0	0	9.22233e-05	0	0
FAM47B	170062	broad.mit.edu	37	X	34961078	34961078	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:34961078G>A	ENST00000329357.5	+	1	166	c.130G>A	c.(130-132)Gac>Aac	p.D44N		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	44										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						CCCGCCTGTGGACACCCAGAA	0.567000													7	15					0	0	0.000157383	0	0
UNC13B	10497	broad.mit.edu	37	9	35398948	35398948	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:35398948G>A	ENST00000378495.3	+	32	3966	c.3744G>A	c.(3742-3744)ggG>ggA	p.G1248G	UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000396787.1_Silent_p.G1260G|UNC13B_ENST00000378496.4_Silent_p.G1248G	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1248					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGCACAGGGAATGCATCTC	0.572000													17	13					0	0	7.07596e-05	0	0
MB21D1	115004	broad.mit.edu	37	6	74150069	74150069	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:74150069G>A	ENST00000370315.3	-	3	1071	c.977C>T	c.(976-978)tCa>tTa	p.S326L	MB21D1_ENST00000370318.1_Missense_Mutation_p.S326L	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN	Mab-21 domain containing 1	326										central_nervous_system(1)|large_intestine(4)|lung(1)	6						GCTACTTTTTGATTCCAAAGC	0.428000													87	51					0	0	0.000147903	0	0
SH3BGRL	6451	broad.mit.edu	37	X	80532638	80532638	+	Silent	SNP	T	T	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:80532638T>G	ENST00000373212.5	+	2	459	c.201T>G	c.(199-201)ccT>ccG	p.P67P	SH3BGRL_ENST00000481106.1_3'UTR	NM_003022.2	NP_003013.1	O75368	SH3L1_HUMAN	SH3 domain binding glutamic acid-rich protein like	67						cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				CCCTGCCACCTCAGATTTTCA	0.388000													8	16					0	0	0.000274275	0	0
GRM6	2916	broad.mit.edu	37	5	178413955	178413955	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:178413955C>T	ENST00000231188.5	-	7	1562	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	GRM6_ENST00000517717.1_Missense_Mutation_p.E462K|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	462					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TCTCCGTTCTCGTTGAACATC	0.657000													4	5					0	0	0.000602214	0	0
ALOX5AP	241	broad.mit.edu	37	13	31338102	31338102	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr13:31338102G>A	ENST00000380490.3	+	5	443	c.345G>A	c.(343-345)ggG>ggA	p.G115G		NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	115	Inhibitor binding.				cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		ACATATTTGGGAAACGCATCA	0.403000													105	111					0	0	0.000147903	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17948366	17948366	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:17948366G>A	ENST00000361221.3	+	11	1109	c.950G>A	c.(949-951)cGg>cAg	p.R317Q	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R278Q|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.R75Q|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R278Q|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R95Q|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.R317Q|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R95Q|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	317	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CAGGTGGTCCGGAGGCATATC	0.587000													37	39					0	0	0.000147903	0	0
SPTBN5	51332	broad.mit.edu	37	15	42164597	42164597	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr15:42164597G>C	ENST00000320955.6	-	27	5295	c.5068C>G	c.(5068-5070)Caa>Gaa	p.Q1690E		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1690					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GTGAGGGTTTGGGCCGTCTGG	0.632000													5	4					0	0	3.59834e-05	0	0
SLC24A3	57419	broad.mit.edu	37	20	19565664	19565664	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:19565664G>A	ENST00000328041.6	+	5	670	c.473G>A	c.(472-474)gGa>gAa	p.G158E		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	158						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGGCAGCGGGAAGTTCGGCC	0.547000													16	30					0	0	0.000566183	0	0
UMODL1	89766	broad.mit.edu	37	21	43508509	43508509	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr21:43508509C>T	ENST00000400427.1	+	5	889	c.493C>T	c.(493-495)Cca>Tca	p.P165S	UMODL1_ENST00000400424.1_Missense_Mutation_p.P165S|UMODL1_ENST00000408910.2_Missense_Mutation_p.P237S|UMODL1_ENST00000408989.2_Missense_Mutation_p.P237S	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	237						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTGCCACGGCCACTGCCTGT	0.637000													6	18					0	0	3.59834e-05	0	0
DQX1	165545	broad.mit.edu	37	2	74751370	74751370	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:74751370C>T	ENST00000404568.3	-	4	715	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Missense_Mutation_p.V166M	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	166	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AGTACCAGCACGCCCCAGGCT	0.602000													33	38					0	0	0.000132358	0	0
SLC4A10	57282	broad.mit.edu	37	2	162738880	162738880	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:162738880C>T	ENST00000375514.5	+	10	1350	c.1063C>T	c.(1063-1065)Ctt>Ttt	p.L355F	SLC4A10_ENST00000535165.1_Intron|SLC4A10_ENST00000421911.1_Missense_Mutation_p.L374F|SLC4A10_ENST00000415876.2_Missense_Mutation_p.L344F|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.L374F|SLC4A10_ENST00000272716.5_Missense_Mutation_p.L344F	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	374					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTTGTTCATTCTTCTGGGACC	0.328000													9	10					0	0	3.86212e-05	0	0
DIO3	1735	broad.mit.edu	37	14	102027999	102027999	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:102027999G>T	ENST00000510508.4	+	1	312	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S	DIO3_ENST00000359323.3_Missense_Mutation_p.A30S			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	30					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CCTCGGCACGGCCTTCATGCT	0.657000													20	38					2.65835e-16	4.11038e-15	0.000184323	1	0
RGS8	85397	broad.mit.edu	37	1	182616005	182616005	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:182616005C>T	ENST00000483095.2	-	7	665	c.408G>A	c.(406-408)caG>caA	p.Q136Q	RGS8_ENST00000367557.4_Silent_p.Q136Q|RGS8_ENST00000367556.1_Silent_p.Q136Q|RGS8_ENST00000258302.4_Silent_p.Q154Q			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	136	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						GGGATGGCTCCTGCAGGTTCT	0.502000													90	46					0	0	0.000147903	0	0
DNAH8	1769	broad.mit.edu	37	6	38690646	38690646	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:38690646G>A	ENST00000449981.2	+	2	170	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K						dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCCCTCTACGGAAGAGGCTGC	0.602000													23	8					0	0	0.00047179	0	0
NFIC	4782	broad.mit.edu	37	19	3434310	3434310	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:3434310C>T	ENST00000589123.1	+	5	838	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	NFIC_ENST00000341919.3_Silent_p.L249L|NFIC_ENST00000346156.5_Silent_p.L216L|NFIC_ENST00000443272.2_Silent_p.L249L|NFIC_ENST00000586919.1_Silent_p.L216L|NFIC_ENST00000395111.3_Silent_p.L240L|NFIC_ENST00000590282.1_Silent_p.L249L	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	249					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CAACTTCTCCCTGGGGGAGCT	0.617000													10	28					0	0	0.00010058	0	0
SLC2A14	144195	broad.mit.edu	37	12	7984358	7984358	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:7984358G>A	ENST00000543909.1	-	9	942	c.183C>T	c.(181-183)atC>atT	p.I61I	SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000431042.2_Silent_p.I38I|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000340749.5_Silent_p.I38I|SLC2A14_ENST00000539924.1_Silent_p.I76I|SLC2A14_ENST00000396589.2_Silent_p.I61I			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	61					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.I61I(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ATTCCTTTATGATCTGCAAAA	0.443000											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	30					0	0	0.000132079	0	0
CR1	1378	broad.mit.edu	37	1	207785085	207785085	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:207785085C>T	ENST00000367049.4	+	38	6359	c.6359C>T	c.(6358-6360)tCa>tTa	p.S2120L	CR1_ENST00000367052.1_Missense_Mutation_p.S1670L|CR1_ENST00000400960.2_Missense_Mutation_p.S1670L|CR1_ENST00000367053.1_Missense_Mutation_p.S1670L|CR1_ENST00000367051.1_Missense_Mutation_p.S1670L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1670					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GACAACTTTTCACCTGGGCAG	0.557000													48	43					0	0	0.000147903	0	0
FBXL14	144699	broad.mit.edu	37	12	1675965	1675965	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:1675965C>T	ENST00000339235.3	-	2	1304	c.1206G>A	c.(1204-1206)ggG>ggA	p.G402G		NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	402						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			gagaaaaatcccctcgtgcct	0.532000													9	20					0	0	0.000442599	0	0
LAMA1	284217	broad.mit.edu	37	18	7080343	7080343	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr18:7080343G>A	ENST00000389658.3	-	2	268	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	59	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGACGGGCCGACCTGGCACA	0.547000													32	48					0	0	0.000491102	0	0
GANC	2595	broad.mit.edu	37	15	42631883	42631883	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr15:42631883C>T	ENST00000318010.8	+	17	2100	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	620					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TAGGCGGGTTCATTGGGAATC	0.527000													18	66					0	0	0.000175454	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846077	43846077	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:43846077C>T	ENST00000389420.3	-	14	2078	c.2079_splice	c.e14+1	p.M693_splice	ADAMTS20_ENST00000553158.1_Splice_Site_p.M693_splice	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	693	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTTTACTTACCATACACTGGC	0.303000													19	61					0	0	0.000586117	0	0
SCN2A	6326	broad.mit.edu	37	2	166188001	166188001	+	Silent	SNP	T	T	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:166188001T>C	ENST00000375437.2	+	14	2601	c.2311T>C	c.(2311-2313)Tta>Cta	p.L771L	SCN2A_ENST00000375427.2_Silent_p.L771L|SCN2A_ENST00000283256.6_Silent_p.L771L|SCN2A_ENST00000357398.3_Silent_p.L771L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	771					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	CTGCATTGTCTTAAATACACT	0.458000													26	41					0	0	0.000147802	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6428212	6428212	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:6428212C>T	ENST00000449001.2	+	12	1860	c.1366C>T	c.(1366-1368)Ctt>Ttt	p.L456F	PLEKHG6_ENST00000396988.3_Missense_Mutation_p.L488F|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L488F	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	488	PH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CAGCGCCCTCCTTGTGCACTG	0.587000													6	11					0	0	0.000274275	0	0
ERN1	2081	broad.mit.edu	37	17	62121413	62121413	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr17:62121413A>T	ENST00000433197.2	-	22	2964	c.2869T>A	c.(2869-2871)Ttc>Atc	p.F957I		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	957	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TAGGGCTGGAAGAGTCTCTCG	0.657000													24	71					0	0	0.000586117	0	0
C14orf79	122616	broad.mit.edu	37	14	105459348	105459348	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:105459348C>T	ENST00000549240.1	+	2	1845	c.37C>T	c.(37-39)Ctc>Ttc	p.L13F	C14orf79_ENST00000550614.1_Missense_Mutation_p.L13F|C14orf79_ENST00000549584.1_3'UTR|C14orf79_ENST00000547315.1_Missense_Mutation_p.L255F			Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	255										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TGAAGGACTCCTCACTGTCAG	0.567000													36	81					0	0	0.000228196	0	0
RARRES3	5920	broad.mit.edu	37	11	63312103	63312103	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:63312103C>T	ENST00000439013.2	+	3	182	c.129C>T	c.(127-129)ccC>ccT	p.P43P	RARRES3_ENST00000255688.3_Silent_p.P43P|RARRES3_ENST00000354445.2_Silent_p.P43P|RARRES3_ENST00000537871.1_3'UTR			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	43					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	p.P43P(2)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GTGAGTACCCCGGGGCTGGCT	0.557000													8	142					0	0	0.000274275	0	0
FA2H	79152	broad.mit.edu	37	16	74752945	74752945	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:74752945G>A	ENST00000219368.3	-	5	796	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S	FA2H_ENST00000544337.1_Missense_Mutation_p.P30S	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	243					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CTGTCGCTGGGGGGCTTCATG	0.607000													16	17					0	0	0.000566183	0	0
CD2AP	23607	broad.mit.edu	37	6	47501378	47501378	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:47501378C>T	ENST00000359314.5	+	3	662	c.206C>T	c.(205-207)cCc>cTc	p.P69L		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	69	Interaction with ANLN and localization to the midbody.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GACAGTTTGCCCATCAAACGG	0.378000													33	25					0	0	0.000132358	0	0
PCMTD2	55251	broad.mit.edu	37	20	62891515	62891515	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:62891515C>T	ENST00000308824.6	+	2	324	c.197C>T	c.(196-198)cCg>cTg	p.P66L	PCMTD2_ENST00000369758.3_Missense_Mutation_p.P66L|PCMTD2_ENST00000299468.7_Missense_Mutation_p.P66L	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	66						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTCTCAGCCCCGTGCATCTAC	0.488000													31	49					0	0	0.000491102	0	0
DSP	1832	broad.mit.edu	37	6	7580076	7580076	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:7580076A>T	ENST00000379802.3	+	23	3994	c.3653A>T	c.(3652-3654)aAg>aTg	p.K1218M	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1218	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AACATTACGAAGACCACCATC	0.358000													33	27					0	0	0.000409698	0	0
SERPINA1	5265	broad.mit.edu	37	14	94844793	94844793	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:94844793T>C	ENST00000448921.1	-	7	1822	c.1250A>G	c.(1249-1251)cAa>cGa	p.Q417R	SERPINA1_ENST00000449399.3_Missense_Mutation_p.Q417R|SERPINA1_ENST00000437397.1_Missense_Mutation_p.Q417R|SERPINA1_ENST00000440909.1_Missense_Mutation_p.Q417R|SERPINA1_ENST00000355814.4_Missense_Mutation_p.Q417R|SERPINA1_ENST00000404814.4_Missense_Mutation_p.Q417R|SERPINA1_ENST00000393088.4_Missense_Mutation_p.Q417R|SERPINA1_ENST00000393087.4_Missense_Mutation_p.Q417R	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	417					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	CAGTTATTTTTGGGTGGGATT	0.512000													18	57					0	0	9.7654e-05	0	0
TMEM63C	57156	broad.mit.edu	37	14	77706031	77706031	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:77706031C>T	ENST00000298351.4	+	12	1036	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	298						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCCCTGTGCCCGCCTGTGCTT	0.627000													4	6					0	0	0.000602214	0	0
KCNH5	27133	broad.mit.edu	37	14	63417257	63417257	+	Silent	SNP	A	A	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:63417257A>G	ENST00000322893.7	-	7	1231	c.963T>C	c.(961-963)agT>agC	p.S321S	KCNH5_ENST00000394964.2_Silent_p.S263S|KCNH5_ENST00000420622.2_Silent_p.S321S|KCNH5_ENST00000394968.1_Silent_p.S263S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	321					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTTTTAAAGAACTGAAGAGAC	0.433000													13	25					0	0	0.000566183	0	0
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:20248603G>A	ENST00000315957.4	+	1	203	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTACCAGGAAATATCCTT	0.423000													82	230					0	0	0.000147903	0	0
POLR3B	55703	broad.mit.edu	37	12	106890623	106890623	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:106890623G>A	ENST00000228347.4	+	25	3133	c.2911G>A	c.(2911-2913)Gat>Aat	p.D971N	POLR3B_ENST00000539066.1_Missense_Mutation_p.D913N|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	971					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TAAAGTGAAGGATGTGTGTGA	0.522000													15	27					0	0	0.000566183	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713883	30713883	+	Missense_Mutation	SNP	G	G	A	rs143095746	by1000genomes	TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:30713883G>A	ENST00000295754.5	+	4	1590	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R428H	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	403	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CTTTCCCTGCGTCTGGACCCT	0.552000													82	114					0	0	0.000147903	0	0
JUP	3728	broad.mit.edu	37	17	39928022	39928022	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr17:39928022C>T	ENST00000393931.3	-	2	203	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	JUP_ENST00000393930.1_Missense_Mutation_p.G29S|JUP_ENST00000540235.1_Missense_Mutation_p.G29S|JUP_ENST00000310706.5_Missense_Mutation_p.G29S	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	29					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GTGTTGGCGCCCGAGTGGATA	0.597000													6	10					0	0	3.59834e-05	0	0
LIG1	3978	broad.mit.edu	37	19	48634356	48634356	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:48634356C>T	ENST00000263274.7	-	19	2217	c.1798G>A	c.(1798-1800)Gac>Aac	p.D600N	LIG1_ENST00000536218.1_Missense_Mutation_p.D532N|LIG1_ENST00000427526.2_Missense_Mutation_p.D569N	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	600					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTGATGATGTCCGGGTACTTC	0.597000								Nucleotide excision repair (NER)					15	23					0	0	9.7654e-05	0	0
STRC	161497	broad.mit.edu	37	15	43896314	43896314	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr15:43896314C>T	ENST00000450892.2	-	22	4332	c.4255G>A	c.(4255-4257)Gaa>Aaa	p.E1419K	STRC_ENST00000541030.1_Missense_Mutation_p.E646K	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1419					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGCTGCTTTTCTAGAAGCCGC	0.587000													4	10					0	0	0.00024832	0	0
ST18	9705	broad.mit.edu	37	8	53085104	53085104	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:53085104G>A	ENST00000276480.7	-	10	1000	c.317C>T	c.(316-318)tCa>tTa	p.S106L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	106						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTGTGCAGTTGAAAGAAGACT	0.328000													14	41					0	0	0.000308642	0	0
MYO18B	84700	broad.mit.edu	37	22	26343678	26343678	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr22:26343678G>A	ENST00000335473.7	+	36	5882	c.5631_splice	c.e36-1	p.V1878_splice	MYO18B_ENST00000407587.2_Splice_Site_p.V1879_splice|MYO18B_ENST00000536101.1_Splice_Site_p.V1878_splice	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1878	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			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						CCTCCCCCAGGTGGATGAGCA	0.567000													4	11					0	0	0.000602214	0	0
POSTN	10631	broad.mit.edu	37	13	38143461	38143461	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr13:38143461C>T	ENST00000379747.4	-	21	2524	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	POSTN_ENST00000379749.4_Intron|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000379742.4_Missense_Mutation_p.E746K|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379743.4_Missense_Mutation_p.E776K|POSTN_ENST00000541481.1_Missense_Mutation_p.E716K	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	803					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTTTAATTTCTTCATCTTCA	0.373000													37	39					0	0	0.000509022	0	0
GPR115	221393	broad.mit.edu	37	6	47675989	47675989	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:47675989G>A	ENST00000283303.2	+	3	381	c.123G>A	c.(121-123)ggG>ggA	p.G41G	GPR115_ENST00000327753.3_Silent_p.G41G|GPR115_ENST00000371220.1_Silent_p.G98G	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	41					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCCCTGAAGGGAAACCCAAGA	0.453000													5	36					0	0	8.12818e-05	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905766	144905766	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:144905766C>T	ENST00000370490.1	+	1	6078	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	SLITRK2_ENST00000447897.2_Missense_Mutation_p.S608F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S608F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S608F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.S608F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	608						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTAGTTCCTATCCTGAA	0.448000													17	38					0	0	0.000422831	0	0
TGIF2	60436	broad.mit.edu	37	20	35219438	35219438	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:35219438C>T	ENST00000373874.2	+	3	517	c.318C>T	c.(316-318)ccC>ccT	p.P106P	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Silent_p.P106P|TGIF2-C20orf24_ENST00000558530.1_Intron	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	106	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TGGCCCTCCCCCGTGGCAGCA	0.637000													32	77					0	0	0.000132358	0	0
ASB1	51665	broad.mit.edu	37	2	239344455	239344455	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:239344455C>T	ENST00000264607.4	+	3	542	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	ASB1_ENST00000409297.1_Intron|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	99					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CTTCCTCATCCGGAAGGGGGC	0.602000													4	28					0	0	0.000602214	0	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986063	31986063	+	Missense_Mutation	SNP	C	C	T	rs28567421	byFrequency	TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr21:31986063C>T	ENST00000329122.2	-	1	186	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	54						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						ACAGAGGGAGCGGGAGCCATA	0.587000													23	53					0	0	0.000147802	0	0
C10orf71	118461	broad.mit.edu	37	10	50531639	50531639	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:50531639G>A	ENST00000374144.3	+	3	1337	c.1049G>A	c.(1048-1050)gGg>gAg	p.G350E	C10orf71_ENST00000323868.4_Missense_Mutation_p.G350E			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	350										endometrium(1)	1						ATACCCTGGGGGTGCAGGGAT	0.592000													4	18					0	0	0.000274275	0	0
R3HDM1	23518	broad.mit.edu	37	2	136409326	136409326	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:136409326C>T	ENST00000264160.4	+	17	2017	c.1647C>T	c.(1645-1647)agC>agT	p.S549S	R3HDM1_ENST00000410054.1_Silent_p.S494S|R3HDM1_ENST00000329971.3_Silent_p.S420S|R3HDM1_ENST00000409478.1_Silent_p.S421S|R3HDM1_ENST00000409606.1_Silent_p.S550S	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	549							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CTCAGTTTAGCCACATGAGTC	0.453000													60	102					0	0	0.000147903	0	0
NUP98	4928	broad.mit.edu	37	11	3752738	3752738	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:3752738C>T	ENST00000324932.7	-	14	2033	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	NUP98_ENST00000397007.4_Missense_Mutation_p.R555H|NUP98_ENST00000355260.3_Missense_Mutation_p.R538H|NUP98_ENST00000397004.4_Missense_Mutation_p.R538H|NUP98_ENST00000359171.4_Missense_Mutation_p.R538H	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	555					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	p.R538H(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGTGGCAGGGCGGGGTGTCAG	0.458000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								34	124					0	0	0.000270559	0	0
LRBA	987	broad.mit.edu	37	4	151749573	151749573	+	Missense_Mutation	SNP	G	G	A	rs149324157	byFrequency	TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:151749573G>A	ENST00000535741.1	-	30	5403	c.4930C>T	c.(4930-4932)Ctt>Ttt	p.L1644F	LRBA_ENST00000357115.3_Missense_Mutation_p.L1644F|LRBA_ENST00000507224.1_Missense_Mutation_p.L1644F|LRBA_ENST00000510413.1_Missense_Mutation_p.L1644F			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1644						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCTAAAGAAAGAGTAGATAGC	0.453000													13	62					0	0	0.00010058	0	0
XAGE3	170626	broad.mit.edu	37	X	52893828	52893828	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:52893828C>T	ENST00000346279.3	-	4	359	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	XAGE3_ENST00000375491.3_Missense_Mutation_p.E97K	NM_133179.2	NP_573440.1	Q8WTP9	GAGD4_HUMAN	X antigen family, member 3	97										kidney(1)|large_intestine(1)|lung(2)	4						TTAAATTGTTCTGATTTTGGC	0.403000													31	59					0	0	0.000491102	0	0
XAB2	56949	broad.mit.edu	37	19	7692252	7692252	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:7692252G>A	ENST00000358368.4	-	4	436	c.399C>T	c.(397-399)ttC>ttT	p.F133F	XAB2_ENST00000534844.1_Silent_p.F130F	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	133					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GGGCACGGTCGAAGGTGCGGC	0.647000								Direct reversal of damage;Nucleotide excision repair (NER)					8	13					0	0	0.00010058	0	0
C2	717	broad.mit.edu	37	6	31903828	31903828	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:31903828C>T	ENST00000299367.5	+	7	1254	c.978C>T	c.(976-978)gcC>gcT	p.A326A	C2_ENST00000452323.2_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Silent_p.A80A|C2_ENST00000442278.2_Silent_p.A194A|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron	NM_000063.4	NP_000054.2			complement component 2											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)		TGGAAAATGCCAACTATAAAG	0.483000													62	248					0	0	0.000147903	0	0
TENM1	10178	broad.mit.edu	37	X	123518112	123518112	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:123518112G>A	ENST00000422452.2	-	30	6732	c.6669C>T	c.(6667-6669)ggC>ggT	p.G2223G	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.G2216G	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GCCTCAGAAAGCCATCTTCAT	0.438000													42	53					0	0	0.000374591	0	0
IPO4	79711	broad.mit.edu	37	14	24655589	24655589	+	Silent	SNP	G	G	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:24655589G>T	ENST00000354464.6	-	10	1085	c.909C>A	c.(907-909)ccC>ccA	p.P303P	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	303					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GGCCTGGTGGGGGCTCAGCAG	0.547000													7	114					0.000274275	0.00411845	0.000274275	1	0
PCDHB3	56132	broad.mit.edu	37	5	140481796	140481796	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:140481796C>G	ENST00000231130.2	+	1	1563	c.1563C>G	c.(1561-1563)taC>taG	p.Y521*		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		521	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGACTACGAGGCCCTGC	0.692000													17	28					0	0	9.7654e-05	0	0
ZNF813	126017	broad.mit.edu	37	19	53994186	53994186	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:53994186C>T	ENST00000396403.4	+	4	828	c.700C>T	c.(700-702)Caa>Taa	p.Q234*	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAGGAAACATCAAATAATCCA	0.383000													36	68					0	0	0.000109025	0	0
INSL6	11172	broad.mit.edu	37	9	5164230	5164230	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:5164230C>T	ENST00000381641.3	-	2	390	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	INSL6_ENST00000510407.1_5'UTR	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	109						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GACTGCATTTCCCAACTGTTT	0.318000													31	76					0	0	0.000491102	0	0
SHD	56961	broad.mit.edu	37	19	4280318	4280318	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:4280318G>A	ENST00000543264.2	+	1	1721	c.258G>A	c.(256-258)atG>atA	p.M86I	SHD_ENST00000599689.1_Missense_Mutation_p.M86I	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	86										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGGATATGGCCAGAGCCA	0.687000													3	2					0	0	6.4e-05	0	0
NEO1	4756	broad.mit.edu	37	15	73593717	73593717	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr15:73593717G>A	ENST00000339362.5	+	29	4668	c.4221G>A	c.(4219-4221)agG>agA	p.R1407R	NEO1_ENST00000261908.6_Silent_p.R1407R|NEO1_ENST00000558964.1_Silent_p.R1396R|NEO1_ENST00000560262.1_Silent_p.R1354R			Q92859	NEO1_HUMAN	neogenin 1	1407					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTCTAGGAAGGAGCCGGCCTC	0.567000													8	19					0	0	3.86212e-05	0	0
RICTOR	253260	broad.mit.edu	37	5	38963106	38963106	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:38963106G>A	ENST00000357387.3	-	17	1468	c.1438C>T	c.(1438-1440)Cat>Tat	p.H480Y	RICTOR_ENST00000296782.5_Missense_Mutation_p.H480Y	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	480					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTCATTTCATGGAAGCGTTTT	0.383000													22	37					0	0	0.000295444	0	0
CDKL2	8999	broad.mit.edu	37	4	76529007	76529007	+	Silent	SNP	T	T	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:76529007T>C	ENST00000429927.2	-	6	1492	c.789A>G	c.(787-789)ttA>ttG	p.L263L	CDKL2_ENST00000307465.4_Silent_p.L263L	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	263	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTACCTTTGCTAAATCTATCA	0.333000													12	74					0	0	0.000422831	0	0
AMOTL2	51421	broad.mit.edu	37	3	134077418	134077418	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:134077418G>A	ENST00000514516.1	-	9	2597	c.2419C>T	c.(2419-2421)Ctg>Ttg	p.L807L	AMOTL2_ENST00000422605.2_Silent_p.L749L|AMOTL2_ENST00000513145.1_Silent_p.L747L|AMOTL2_ENST00000249883.5_Silent_p.L750L	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	749										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CTGCACCCCAGAAGGCTGTCA	0.647000											OREG0015814	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	16					0	0	8.12818e-05	0	0
LUZP1	7798	broad.mit.edu	37	1	23420592	23420592	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:23420592C>T	ENST00000302291.4	-	4	964	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	LUZP1_ENST00000374623.3_Missense_Mutation_p.E55K|LUZP1_ENST00000418342.1_Missense_Mutation_p.E55K|LUZP1_ENST00000314174.5_Missense_Mutation_p.E55K			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	55						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTGCTACCTTCTGCCTGAATC	0.517000													50	53					0	0	0.000147903	0	0
DPY19L4	286148	broad.mit.edu	37	8	95780715	95780715	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:95780715C>A	ENST00000414645.2	+	12	1367	c.1268C>A	c.(1267-1269)cCt>cAt	p.P423H		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	423						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TCTTTATTACCTTTCTACATT	0.323000													12	648					0.000151284	0.00228364	0.000151284	1	0
USP9X	8239	broad.mit.edu	37	X	41057871	41057871	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:41057871G>A	ENST00000324545.7	+	30	5104	c.4471G>A	c.(4471-4473)Gtc>Atc	p.V1491I	USP9X_ENST00000378308.2_Missense_Mutation_p.V1491I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1491					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GGCTATTCCGGTCTGTGGTTC	0.373000													23	52					0	0	0.000586117	0	0
COL4A1	1282	broad.mit.edu	37	13	110827011	110827011	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr13:110827011G>A	ENST00000375820.4	-	38	3405	c.3284C>T	c.(3283-3285)tCc>tTc	p.S1095F		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1095	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGGCCTGGGGACCCTGGCAT	0.532000													34	94					0	0	0.000491102	0	0
RASGRP3	25780	broad.mit.edu	37	2	33749069	33749069	+	Missense_Mutation	SNP	A	A	G	rs35406835		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:33749069A>G	ENST00000403687.3	+	8	1380	c.640A>G	c.(640-642)Acc>Gcc	p.T214A	RASGRP3_ENST00000402538.3_Missense_Mutation_p.T214A|RASGRP3_ENST00000407811.1_Missense_Mutation_p.T214A	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	214	Ras-GEF.				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			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TAGCAAACCAACCCCCCAGCA	0.428000													69	89					0	0	0.000147903	0	0
CBX6	23466	broad.mit.edu	37	22	39263084	39263084	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr22:39263084G>A	ENST00000407418.3	-	5	492	c.369C>T	c.(367-369)atC>atT	p.I123I	CBX6_ENST00000216083.6_Silent_p.I105I			O95503	CBX6_HUMAN	chromobox homolog 6	123					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GGCAGCGGCGGATGTCCTTCT	0.697000													5	6					0	0	8.12818e-05	0	0
MPPED2	744	broad.mit.edu	37	11	30516965	30516965	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:30516965G>A	ENST00000448418.2	-	4	774	c.414C>T	c.(412-414)ttC>ttT	p.F138F	MPPED2_ENST00000358117.5_Silent_p.F138F	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	138					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ACACAGAGGGGAAACGGTAGT	0.403000													18	41					0	0	0.000132079	0	0
RASSF9	9182	broad.mit.edu	37	12	86198973	86198973	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:86198973C>T	ENST00000361228.3	-	2	1183	c.815G>A	c.(814-816)cGa>cAa	p.R272Q		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	272					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATATTTCAGTCGTTCTTCCAG	0.393000													36	83					0	0	0.000159656	0	0
POP1	10940	broad.mit.edu	37	8	99148715	99148715	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:99148715C>T	ENST00000401707.2	+	8	1098	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	POP1_ENST00000349693.3_Silent_p.I339I	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	339					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TTTAGGATATCTTAGAGGAAA	0.318000													69	63					0	0	0.000147903	0	0
PRDX6	9588	broad.mit.edu	37	1	173446598	173446598	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:173446598G>A	ENST00000340385.5	+	1	194	c.62G>A	c.(61-63)gGc>gAc	p.G21D		NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	21	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						ACCACCGTCGGCCGCATCCGT	0.652000													4	29					0	0	0.000602214	0	0
ZNF574	64763	broad.mit.edu	37	19	42583941	42583941	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:42583941C>T	ENST00000600245.1	+	2	1838	c.1183C>T	c.(1183-1185)Cca>Tca	p.P395S	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.P395S|ZNF574_ENST00000222339.7_Missense_Mutation_p.P485S			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCATTCATGTCCATGTGGGAA	0.592000													30	34					0	0	0.000491102	0	0
FAM9A	171482	broad.mit.edu	37	X	8767100	8767100	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:8767100T>C	ENST00000543214.1	-	3	262	c.127A>G	c.(127-129)Acc>Gcc	p.T43A	FAM9A_ENST00000381003.3_Missense_Mutation_p.T43A	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	43						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				GGCTCCATGGTTGGCTGTCCT	0.542000													18	6					0	0	9.7654e-05	0	0
THSD7B	80731	broad.mit.edu	37	2	137814398	137814398	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:137814398C>T	ENST00000409968.1	+	3	726	c.548C>T	c.(547-549)tCt>tTt	p.S183F	THSD7B_ENST00000413152.2_Missense_Mutation_p.S152F|THSD7B_ENST00000272643.3_Missense_Mutation_p.S183F|THSD7B_ENST00000543459.1_Missense_Mutation_p.S42F					thrombospondin, type I, domain containing 7B											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)		TGTGTAGTATCTGAGTTCTTA	0.493000													73	95					0	0	0.000147903	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431932	140431932	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:140431932C>T	ENST00000306549.3	+	1	954	c.877C>T	c.(877-879)Cag>Tag	p.Q293*		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		293	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGACGTTTCAGATTGACCC	0.468000													20	28					0	0	0.000132079	0	0
SALL1	6299	broad.mit.edu	37	16	51174965	51174965	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:51174965G>A	ENST00000440970.1	-	2	1308	c.877C>T	c.(877-879)Cca>Tca	p.P293S	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P390S|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	390					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGTAGAAGTGGATTAGACGCA	0.522000													17	60					0	0	9.7654e-05	0	0
CCT5	22948	broad.mit.edu	37	5	10254948	10254948	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:10254948T>C	ENST00000280326.4	+	3	749	c.329T>C	c.(328-330)gTt>gCt	p.V110A	CCT5_ENST00000503026.1_Missense_Mutation_p.V89A|CCT5_ENST00000515390.1_Intron|CCT5_ENST00000515676.1_Missense_Mutation_p.V72A|CCT5_ENST00000506600.1_Intron	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	110					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ACAGGAGTGGTTGGTAAGAAA	0.423000													21	34					0	0	0.000295444	0	0
GABBR1	2550	broad.mit.edu	37	6	29577156	29577156	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:29577156C>T	ENST00000377034.4	-	15	2044	c.1708_splice	c.e15-1	p.G570_splice	GABBR1_ENST00000355973.3_Splice_Site_p.G453_splice|GABBR1_ENST00000377012.4_Splice_Site_p.G453_splice|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000377016.4_Splice_Site_p.G508_splice	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	570					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGGGGACCCTCCTGCATGGCA	0.532000													10	48					0	0	6.40141e-05	0	0
ARMCX5	64860	broad.mit.edu	37	X	101858400	101858400	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:101858400G>A	ENST00000604957.1	+	1	3953	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	ARMCX5_ENST00000536530.1_Missense_Mutation_p.G444E|ARMCX5_ENST00000537008.1_Missense_Mutation_p.G444E|ARMCX5_ENST00000541409.1_Missense_Mutation_p.G444E|ARMCX5_ENST00000372742.1_Missense_Mutation_p.G444E|ARMCX5_ENST00000246174.2_Missense_Mutation_p.G444E|RP4-769N13.6_ENST00000476910.1_RNA|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	444							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TTAAACAAGGGAAGTGTCAAA	0.353000													31	67					0	0	0.000339439	0	0
NAV2	89797	broad.mit.edu	37	11	20104140	20104140	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:20104140C>T	ENST00000396085.1	+	26	5689	c.5328C>T	c.(5326-5328)gtC>gtT	p.V1776V	NAV2_ENST00000533917.1_Intron|NAV2_ENST00000396087.3_Silent_p.V1832V|NAV2_ENST00000349880.4_Intron|NAV2_ENST00000540292.1_Silent_p.V1763V|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000311043.8_Intron|NAV2_ENST00000527559.2_Silent_p.V1761V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1832						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCTGGCAGGTCAATGAGGTAA	0.443000													36	48					0	0	0.000589545	0	0
UAP1	6675	broad.mit.edu	37	1	162567623	162567623	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:162567623C>T	ENST00000271469.3	+	10	1753	c.1451C>T	c.(1450-1452)tCt>tTt	p.S484F	UAP1_ENST00000367926.4_Missense_Mutation_p.S467F|UAP1_ENST00000486089.1_3'UTR|UAP1_ENST00000367924.1_Missense_Mutation_p.S483F|UAP1_ENST00000367925.1_Missense_Mutation_p.S484F			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	484					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGTGAAATCTCTCCTCTTATC	0.338000													120	65					0	0	0.000147903	0	0
TEX26	122046	broad.mit.edu	37	13	31531145	31531145	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr13:31531145G>A	ENST00000380473.3	+	4	461	c.448G>A	c.(448-450)Gac>Aac	p.D150N	TEX26_ENST00000530916.1_3'UTR	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	150								p.D150N(1)									TACTAAGAGAGACTTTGTGGA	0.438000													40	47					0	0	0.000125731	0	0
IL1RL1	9173	broad.mit.edu	37	2	102957281	102957281	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:102957281G>A	ENST00000311734.2	+	5	942	c.603G>A	c.(601-603)acG>acA	p.T201T	IL1RL1_ENST00000404917.2_Silent_p.T84T|IL1RL1_ENST00000393393.3_Silent_p.T201T|IL1RL1_ENST00000233954.1_Silent_p.T201T|IL1RL1_ENST00000409584.1_Silent_p.T201T			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	201					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GGTCCTTCACGGTCAAGGGTA	0.443000													6	25					0	0	0.000157383	0	0
FAAH2	158584	broad.mit.edu	37	X	57515239	57515239	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:57515239G>A	ENST00000374900.4	+	11	1593	c.1473G>A	c.(1471-1473)ctG>ctA	p.L491L	FAAH2_ENST00000491179.1_3'UTR	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	491						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CACTGGGACTGAATGCCAAAG	0.488000										HNSCC(52;0.14)			13	24					0	0	0.00010058	0	0
NLRP10	338322	broad.mit.edu	37	11	7982349	7982349	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:7982349C>T	ENST00000328600.2	-	2	971	c.810G>A	c.(808-810)aaG>aaA	p.K270K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	270	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCAGGCTCTCCTTGGGACTCA	0.552000													25	54					0	0	0.000147802	0	0
ZNF200	7752	broad.mit.edu	37	16	3273906	3273906	+	Silent	SNP	G	G	T	rs138531369	byFrequency	TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:3273906G>T	ENST00000431561.3	-	5	1786	c.1174C>A	c.(1174-1176)Cga>Aga	p.R392R	ZNF200_ENST00000396871.4_Silent_p.R391R|ZNF200_ENST00000575948.1_Silent_p.R391R|ZNF200_ENST00000396868.3_Silent_p.R391R|ZNF200_ENST00000414144.2_Silent_p.R392R|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396870.4_Silent_p.R391R	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.R392R(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TTCTGCTTTCGGGTCTTACAG	0.473000													6	170					0.000157383	0.00236945	0.000157383	1	0
ATP13A4	84239	broad.mit.edu	37	3	193232645	193232645	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:193232645G>A	ENST00000342695.4	-	2	398	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ATP13A4_ENST00000295548.3_Missense_Mutation_p.R26W|ATP13A4_ENST00000392443.3_Missense_Mutation_p.R26W	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	26					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.R26W(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCTTGAGTCCGATAGCCAAAT	0.418000													18	24					0	0	9.7654e-05	0	0
CFHR5	81494	broad.mit.edu	37	1	196971796	196971796	+	Splice_Site	SNP	T	T	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:196971796T>C	ENST00000367414.5	+	8	1458		c.e8+2		CFHR5_ENST00000256785.4_Splice_Site	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5						complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GCTGTGTTGGTTAGTAGTTTA	0.323000													6	45					0	0	0.000157383	0	0
DENND3	22898	broad.mit.edu	37	8	142199114	142199114	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:142199114G>A	ENST00000519811.1	+	19	3184	c.3114G>A	c.(3112-3114)caG>caA	p.Q1038Q	DENND3_ENST00000424248.1_Silent_p.Q906Q|DENND3_ENST00000523308.1_Silent_p.Q8Q|DENND3_ENST00000262585.2_Silent_p.Q958Q			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	958										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCAGAACCAGGTGTGGGTTG	0.512000													8	26					0	0	6.40141e-05	0	0
ASTN1	460	broad.mit.edu	37	1	176863711	176863711	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:176863711T>G	ENST00000367654.2	-	17	2964	c.2951A>C	c.(2950-2952)aAc>aCc	p.N984T	ASTN1_ENST00000424564.2_Missense_Mutation_p.N976T|ASTN1_ENST00000361833.2_Missense_Mutation_p.N976T|ASTN1_ENST00000367657.3_Missense_Mutation_p.N976T			O14525	ASTN1_HUMAN	astrotactin 1	984					cell migration|neuron cell-cell adhesion	integral to membrane				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						CTGGGTCTGGTTGTTGGTCAC	0.572000													6	45					0	0	8.12818e-05	0	0
FCN1	2219	broad.mit.edu	37	9	137801707	137801707	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:137801707C>G	ENST00000371806.3	-	9	1009	c.918G>C	c.(916-918)tgG>tgC	p.W306C		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	306	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TCGCCGCACTCCAGTTGATAC	0.562000													29	47					0	0	0.000117367	0	0
ATXN2	6311	broad.mit.edu	37	12	111956089	111956089	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:111956089G>A	ENST00000377617.3	-	9	1770	c.1609C>T	c.(1609-1611)Ccg>Tcg	p.P537S	ATXN2_ENST00000389153.4_Missense_Mutation_p.P272S|ATXN2_ENST00000550104.1_Missense_Mutation_p.P537S|ATXN2_ENST00000542287.2_Missense_Mutation_p.P272S|ATXN2_ENST00000535949.1_Missense_Mutation_p.P248S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	537					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CCAGAATTCGGGTTGAAATCT	0.423000													25	56					0	0	0.000279167	0	0
DARS2	55157	broad.mit.edu	37	1	173799875	173799875	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:173799875C>T	ENST00000361951.4	+	4	1099	c.372C>T	c.(370-372)tcC>tcT	p.S124S	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	124					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CAGTCATTTCCCGTCCTGCAG	0.453000													10	112					0	0	6.40141e-05	0	0
OSBP	5007	broad.mit.edu	37	11	59361193	59361193	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:59361193C>T	ENST00000263847.1	-	9	2041	c.1562G>A	c.(1561-1563)aGt>aAt	p.S521N		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	521					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGGATGATGACTCACCTTGAA	0.438000													16	33					0	0	0.000422831	0	0
PCDH18	54510	broad.mit.edu	37	4	138450971	138450971	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:138450971C>A	ENST00000344876.4	-	1	2658	c.2272G>T	c.(2272-2274)Gac>Tac	p.D758Y	PCDH18_ENST00000507846.1_Missense_Mutation_p.D538Y|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.D758Y	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	758					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AATGTGATGTCCCCTTTGTGA	0.498000													20	30					8.10497e-08	1.22993e-06	0.000175454	1	0
LY9	4063	broad.mit.edu	37	1	160769865	160769865	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:160769865C>T	ENST00000263285.5	+	2	477	c.447C>T	c.(445-447)ttC>ttT	p.F149F	LY9_ENST00000368039.2_Silent_p.F149F|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Silent_p.F109F|LY9_ENST00000341032.4_Silent_p.F149F|LY9_ENST00000368040.1_5'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	149	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCACCCTGTTCGTCTATGGTG	0.373000													65	36					0	0	0.000147903	0	0
OR13D1	286365	broad.mit.edu	37	9	107457355	107457355	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:107457355A>T	ENST00000318763.5	+	1	696	c.653A>T	c.(652-654)aAa>aTa	p.K218I		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GCCCTTCTAAAACTTGTTTGT	0.363000													37	71					0	0	0.000319135	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212520745	212520745	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:212520745G>A	ENST00000261461.2	+	6	1335	c.761G>A	c.(760-762)gGa>gAa	p.G254E	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.G197E	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	254					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GAAATATTAGGAAGGTAGGTC	0.269000													6	106					0	0	3.59834e-05	0	0
SERPINI1	5274	broad.mit.edu	37	3	167510377	167510377	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:167510377G>A	ENST00000295777.5	+	4	912		c.e4-1		SERPINI1_ENST00000446050.2_Splice_Site	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1						central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTCCTAAATAGATCTGGTGAA	0.398000													20	27					0	0	0.000229342	0	0
TG	7038	broad.mit.edu	37	8	133909963	133909963	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:133909963C>T	ENST00000220616.4	+	12	3111	c.3071C>T	c.(3070-3072)tCg>tTg	p.S1024L	TG_ENST00000377869.1_Missense_Mutation_p.S1024L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1024	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTCTGCGGTCGGGCCCCTAC	0.582000													17	60					0	0	7.07596e-05	0	0
C20orf26	26074	broad.mit.edu	37	20	20037317	20037317	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:20037317C>T	ENST00000245957.5	+	2	96	c.20C>T	c.(19-21)cCa>cTa	p.P7L	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.P7L|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.P7L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	7										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTCACTTCTCCAAGAGGAAAG	0.358000													31	57					0	0	0.000109025	0	0
CYYR1	116159	broad.mit.edu	37	21	27840930	27840930	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr21:27840930C>T	ENST00000299340.4	-	4	698	c.355G>A	c.(355-357)Gac>Aac	p.D119N	AP001596.6_ENST00000429340.1_RNA|AP001596.6_ENST00000444306.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000421771.1_RNA|AP001597.1_ENST00000357401.3_RNA|AP001597.1_ENST00000414486.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	119						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						ATCTCGTGGTCGTGACCGTAG	0.532000													19	34					0	0	0.000229342	0	0
FUT9	10690	broad.mit.edu	37	6	96651110	96651110	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:96651110C>T	ENST00000302103.5	+	3	405	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	27					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GGCATGTCTTCTCATTTACAT	0.383000													34	27					0	0	0.000491102	0	0
CAMTA1	23261	broad.mit.edu	37	1	7798518	7798518	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:7798518C>T	ENST00000303635.7	+	16	4365	c.4158C>T	c.(4156-4158)tgC>tgT	p.C1386C	CAMTA1_ENST00000439411.2_Silent_p.C1386C	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.C1386C(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ATGAAGAATGCGGCCAGCCCA	0.522000			T	WWTR1	epitheliod hemangioendothelioma								14	9					0	0	0.000219431	0	0
DNAH9	1770	broad.mit.edu	37	17	11738075	11738075	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr17:11738075G>A	ENST00000262442.3	+	49	9435	c.9367G>A	c.(9367-9369)Gcc>Acc	p.A3123T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A3123T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3123	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		CAGAGAGAAAGCCATGGCAGA	0.527000													7	16					0	0	8.12818e-05	0	0
LILRB1	10859	broad.mit.edu	37	19	55143588	55143588	+	Silent	SNP	G	G	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:55143588G>T	ENST00000396331.1	+	6	918	c.561G>T	c.(559-561)gtG>gtT	p.V187V	LILRB1_ENST00000396332.4_Silent_p.V187V|LILRB1_ENST00000396327.3_Silent_p.V187V|LILRB1_ENST00000427581.2_Silent_p.V223V|LILRB1_ENST00000324602.7_Silent_p.V187V|LILRB1_ENST00000434867.2_Silent_p.V187V|LILRB1_ENST00000448689.1_Silent_p.V187V|LILRB1_ENST00000418536.2_Silent_p.V187V|LILRB1_ENST00000396315.1_Silent_p.V187V|LILRB1_ENST00000396317.1_Silent_p.V187V|LILRB1_ENST00000396321.2_Silent_p.V187V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	187	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGGGCCCCGTGAGCCCGAGTC	0.587000										HNSCC(37;0.09)			21	49					1.10923e-09	1.68774e-08	0.000375601	1	0
KLC2	64837	broad.mit.edu	37	11	66030338	66030338	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:66030338C>T	ENST00000394065.2	+	3	1184	c.166C>T	c.(166-168)Ccg>Tcg	p.P56S	KLC2_ENST00000394066.2_Missense_Mutation_p.P118S|KLC2_ENST00000394067.2_Missense_Mutation_p.P195S|KLC2_ENST00000394078.1_Missense_Mutation_p.P195S|KLC2_ENST00000316924.5_Missense_Mutation_p.P195S|KLC2_ENST00000421552.1_Missense_Mutation_p.P118S|KLC2_ENST00000417856.1_Missense_Mutation_p.P195S			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	195					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CTACGAGATCCCGGCCCGGCT	0.637000													15	42					0	0	0.000566183	0	0
COL22A1	169044	broad.mit.edu	37	8	139809090	139809090	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:139809090G>A	ENST00000303045.6	-	12	2014	c.1568C>T	c.(1567-1569)cCt>cTt	p.P523L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P523L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	523	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			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)			TTGGCCAAAAGGTCCTATGCC	0.463000										HNSCC(7;0.00092)			160	98					0	0	0.000147903	0	0
SETX	23064	broad.mit.edu	37	9	135202598	135202598	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:135202598C>T	ENST00000372169.2	-	10	4569	c.4387G>A	c.(4387-4389)Gac>Aac	p.D1463N	SETX_ENST00000393220.1_Missense_Mutation_p.D1463N|SETX_ENST00000224140.5_Missense_Mutation_p.D1463N			Q7Z333	SETX_HUMAN	senataxin	1463					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CCCAGAGGGTCTTCTGAAGTG	0.458000													32	70					0	0	0.00058488	0	0
CPB1	1360	broad.mit.edu	37	3	148563299	148563299	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:148563299C>T	ENST00000491148.1	+	10	1201	c.867C>T	c.(865-867)ttC>ttT	p.F289F	CPB1_ENST00000282957.4_Silent_p.F289F			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	289					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGGCTGATTTCATCCGCAACA	0.463000													34	52					0	0	0.00058488	0	0
SH3TC2	79628	broad.mit.edu	37	5	148389867	148389867	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:148389867G>T	ENST00000538184.1	-	10	2822	c.1934C>A	c.(1933-1935)aCc>aAc	p.T645N	SH3TC2_ENST00000512049.1_Missense_Mutation_p.T1091N|SH3TC2_ENST00000515425.1_Missense_Mutation_p.T1098N			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1098							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTGGCGGGTCCCATTGAA	0.552000													24	18					5.77227e-19	8.94937e-18	0.000227799	1	0
KCNB2	9312	broad.mit.edu	37	8	73850232	73850232	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:73850232A>T	ENST00000523207.1	+	3	3230	c.2642A>T	c.(2641-2643)gAa>gTa	p.E881V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	881					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGTAGTCAAGAAGGGTGCAAG	0.488000													45	40					0	0	0.000125731	0	0
TPH2	121278	broad.mit.edu	37	12	72335485	72335485	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:72335485G>A	ENST00000333850.3	+	2	368	c.227G>A	c.(226-228)gGa>gAa	p.G76E	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	76	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GAAGTTGGTGGATTGGTAAAA	0.418000													21	54					0	0	0.000295444	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518814	113518814	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:113518814C>T	ENST00000284601.3	-	4	2401	c.2333G>A	c.(2332-2334)gGg>gAg	p.G778E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	778					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATCATTTCTCCCTTCATGTGG	0.388000													31	59					0	0	0.000491102	0	0
CACNG3	10368	broad.mit.edu	37	16	24358083	24358083	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:24358083C>T	ENST00000005284.3	+	2	1442	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	80					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			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)		GCAAGAAAATCGATCACTTCC	0.582000													14	9					0	0	0.000175454	0	0
DSC1	1823	broad.mit.edu	37	18	28722082	28722082	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr18:28722082C>T	ENST00000257197.3	-	9	1401	c.1140G>A	c.(1138-1140)caG>caA	p.Q380Q	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.Q380Q	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	380	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTGGCAAATCCTGATCCTGTA	0.343000													28	53					0	0	0.000227799	0	0
EMC1	23065	broad.mit.edu	37	1	19546091	19546091	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:19546091G>A	ENST00000477853.1	-	22	2816	c.2774C>T	c.(2773-2775)gCt>gTt	p.A925V	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.A924V|EMC1_ENST00000480380.1_5'UTR|EMC1_ENST00000375208.3_Missense_Mutation_p.A903V	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1																		ACCCGAGGGAGCTGTGTAGAT	0.463000													23	19					0	0	0.000375601	0	0
PNMA3	29944	broad.mit.edu	37	X	152226735	152226735	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:152226735G>A	ENST00000447306.1	+	2	1659	c.1323G>A	c.(1321-1323)caG>caA	p.Q441Q	PNMA3_ENST00000370265.4_Intron|PNMA3_ENST00000370264.4_Silent_p.Q441Q	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	441					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGAAACAGGCTGCAGTTG	0.547000													32	51					0	0	0.000109025	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967386	41967386	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:41967386G>A	ENST00000298919.7	+	10	2413	c.2025G>A	c.(2023-2025)atG>atA	p.M675I	PDZRN4_ENST00000539469.2_Missense_Mutation_p.M677I|PDZRN4_ENST00000402685.2_Missense_Mutation_p.M935I			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	935							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGAGCGAGATGAAAATGGGGC	0.547000													11	27					0	0	3.86212e-05	0	0
IGHG2	3501	broad.mit.edu	37	14	106110413	106110413	+	RNA	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:106110413G>A	ENST00000390545.2	-	0	322																											ACCTGGGCACGGTGGGCACTC	0.612000													33	91					0	0	0.000191422	0	0
VPS13D	55187	broad.mit.edu	37	1	12364652	12364652	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:12364652C>T	ENST00000358136.3	+	26	6436	c.6306C>T	c.(6304-6306)tcC>tcT	p.S2102S	VPS13D_ENST00000356315.4_Silent_p.S2102S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2102					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAACCCATTCCCAGGGGCAGT	0.567000													15	11					0	0	0.000219431	0	0
TTN	7273	broad.mit.edu	37	2	179571203	179571203	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:179571203C>T	ENST00000589042.1	-	102	29622	c.29398G>A	c.(29398-29400)Gat>Aat	p.D9800N	TTN_ENST00000342992.6_Missense_Mutation_p.D8556N|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D9483N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9483	Ig-like 79.						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)			GCTCTAAGATCGCCTTCAATT	0.413000													13	15					0	0	0.00010058	0	0
GAPVD1	26130	broad.mit.edu	37	9	128064945	128064945	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:128064945C>T	ENST00000470056.1	+	3	1029	c.869C>T	c.(868-870)aCc>aTc	p.T290I	GAPVD1_ENST00000394083.2_Missense_Mutation_p.T290I|GAPVD1_ENST00000312123.9_Missense_Mutation_p.T290I|GAPVD1_ENST00000297933.6_Missense_Mutation_p.T290I|GAPVD1_ENST00000265956.4_Missense_Mutation_p.T290I|GAPVD1_ENST00000394104.2_Missense_Mutation_p.T290I|GAPVD1_ENST00000394105.2_Missense_Mutation_p.T290I|GAPVD1_ENST00000394084.1_Missense_Mutation_p.T290I|GAPVD1_ENST00000495955.1_Missense_Mutation_p.T290I			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	290	Ras-GAP.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ATGTACAAAACCCTCTCCTGT	0.433000													31	61					0	0	0.000409698	0	0
CPVL	54504	broad.mit.edu	37	7	29135786	29135786	+	Silent	SNP	C	C	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:29135786C>A	ENST00000409850.1	-	8	982	c.336G>T	c.(334-336)ccG>ccT	p.P112P	CPVL_ENST00000265394.5_Silent_p.P112P|CPVL_ENST00000396276.3_Silent_p.P112P|CPVL_ENST00000488891.2_5'UTR			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	112					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATGAACCTCCCGGCCCACCCT	0.463000													5	87					0.000602214	0.00899548	0.000602214	1	0
PCDHB7	56129	broad.mit.edu	37	5	140554261	140554261	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:140554261C>T	ENST00000231137.3	+	1	2019	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		615	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGGCTATTCGGCGTGTGGG	0.682000													27	38					0	0	0.000279167	0	0
SMTNL1	219537	broad.mit.edu	37	11	57314011	57314011	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:57314011G>A	ENST00000457912.1	+	7	1280	c.1280G>A	c.(1279-1281)aGt>aAt	p.S427N	SMTNL1_ENST00000399154.2_Missense_Mutation_p.S372N|SMTNL1_ENST00000527972.1_Missense_Mutation_p.S409N			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	409										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AGCTGGAGCAGTGGTATGGCC	0.602000													20	32					0	0	9.22233e-05	0	0
KNTC1	9735	broad.mit.edu	37	12	123098305	123098305	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:123098305C>T	ENST00000333479.7	+	55	6051	c.5874C>T	c.(5872-5874)tcC>tcT	p.S1958S	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Silent_p.S383S|KNTC1_ENST00000450485.2_Silent_p.S883S	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1958					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GCCACGAGTCCATGGTAGGTA	0.433000													12	16					0	0	0.000219431	0	0
MYLK	4638	broad.mit.edu	37	3	123452795	123452795	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:123452795C>T	ENST00000360772.3	-	11	1426	c.1048G>A	c.(1048-1050)Gca>Aca	p.A350T	MYLK_ENST00000475616.1_Missense_Mutation_p.A350T|MYLK_ENST00000360304.3_Missense_Mutation_p.A350T|MYLK_ENST00000359169.1_Missense_Mutation_p.A350T|MYLK_ENST00000346322.5_Missense_Mutation_p.A350T			Q15746	MYLK_HUMAN	myosin light chain kinase	350					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.A350T(1)|p.A350P(1)|p.A350S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGAACTCTTGCGGCCTGCAGG	0.632000													21	77					0	0	0.00047179	0	0
KAT6B	23522	broad.mit.edu	37	10	76788641	76788641	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:76788641G>A	ENST00000287239.4	+	18	4548	c.4059G>A	c.(4057-4059)gaG>gaA	p.E1353E	KAT6B_ENST00000372724.1_Silent_p.E1061E|KAT6B_ENST00000372714.1_Silent_p.E1061E|KAT6B_ENST00000372711.1_Silent_p.E1170E|KAT6B_ENST00000372725.1_Silent_p.E1061E	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1353	Poly-Glu.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CTgaggaagaggaagaggagg	0.453000													7	7					0	0	8.12818e-05	0	0
GRID1	2894	broad.mit.edu	37	10	87362307	87362307	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:87362307C>T	ENST00000327946.7	-	16	2838	c.2753G>A	c.(2752-2754)cGg>cAg	p.R918Q	GRID1_ENST00000536331.1_Missense_Mutation_p.R489Q|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	918						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGGTACTCCCGTGTCGGCTC	0.617000										Multiple Myeloma(13;0.14)			6	15					0	0	3.59834e-05	0	0
PDHA1	5160	broad.mit.edu	37	X	19373555	19373555	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:19373555C>T	ENST00000379806.5	+	8	951	c.806C>T	c.(805-807)aCg>aTg	p.T269M	PDHA1_ENST00000540249.1_Missense_Mutation_p.T200M|PDHA1_ENST00000422285.2_Missense_Mutation_p.T231M|PDHA1_ENST00000545074.1_Missense_Mutation_p.T238M	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	231					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GGAATGGGAACGTCTGTTGAG	0.493000													46	108					0	0	0.000509022	0	0
NUP210	23225	broad.mit.edu	37	3	13363732	13363732	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:13363732C>T	ENST00000254508.5	-	35	4958	c.4876G>A	c.(4876-4878)Gat>Aat	p.D1626N		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1626					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GTGAACACATCTTGAGATGGG	0.542000													34	63					0	0	0.000109025	0	0
TRPV6	55503	broad.mit.edu	37	7	142583185	142583185	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:142583185C>T	ENST00000359396.3	-	1	322	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	26					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CCAGGACTCCCGTCTCTGGAA	0.612000													43	48					0	0	0.000509022	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420920	55420920	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:55420920G>A	ENST00000242994.3	+	2	1075	c.697G>A	c.(697-699)Gga>Aga	p.G233R		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	233					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CAAGAGTTTGGGAGAATCGTC	0.517000													19	21					0	0	0.000132079	0	0
MUC16	94025	broad.mit.edu	37	19	9086595	9086595	+	Silent	SNP	A	A	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:9086595A>G	ENST00000397910.4	-	1	5423	c.5220T>C	c.(5218-5220)gcT>gcC	p.A1740A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1740	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTTCCTTCAGCATAGCTGG	0.498000													26	45					0	0	9.22233e-05	0	0
IFNA7	3444	broad.mit.edu	37	9	21201733	21201733	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:21201733C>T	ENST00000239347.3	-	1	471	c.432G>A	c.(430-432)agG>agA	p.R144R		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	144					blood coagulation|cell-cell signaling|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			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGAAGTATTTCCTCACAGCCA	0.448000													74	156					0	0	0.000147903	0	0
EXOSC1	51013	broad.mit.edu	37	10	99196960	99196960	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:99196960G>A	ENST00000370902.3	-	7	500	c.469C>T	c.(469-471)Cac>Tac	p.H157Y	EXOSC1_ENST00000370885.4_Missense_Mutation_p.H132Y|EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000485122.2_Intron|EXOSC1_ENST00000370886.5_Missense_Mutation_p.H140Y	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	157					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		GACTCACTGTGGGCTACCACC	0.488000													34	62					0	0	0.000319135	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178555107	178555107	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:178555107C>T	ENST00000251582.7	-	17	2571	c.2470G>A	c.(2470-2472)Gga>Aga	p.G824R		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	824	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGGTGTCTCCCACCGGGATG	0.577000													9	16					0	0	0.000442599	0	0
CERCAM	51148	broad.mit.edu	37	9	131198057	131198057	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:131198057C>T	ENST00000372842.1	+	13	4571	c.1427C>T	c.(1426-1428)cCa>cTa	p.P476L	CERCAM_ENST00000372838.4_Missense_Mutation_p.P554L			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	554					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						ACATCCTCTCCATGGGATGAT	0.687000													10	10					0	0	0.00010058	0	0
KIAA0319	9856	broad.mit.edu	37	6	24576704	24576704	+	Silent	SNP	G	G	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:24576704G>T	ENST00000535378.1	-	11	2241	c.1599C>A	c.(1597-1599)ccC>ccA	p.P533P	KIAA0319_ENST00000378214.3_Silent_p.P542P|KIAA0319_ENST00000543707.1_Silent_p.P542P|KIAA0319_ENST00000430948.2_Silent_p.P497P|KIAA0319_ENST00000537886.1_Silent_p.P542P	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	542	PKD 3.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGGAGTTTTGGGGCAAAGTTA	0.498000													12	543					0.00010058	0.00152227	0.00010058	1	0
XPO6	23214	broad.mit.edu	37	16	28112887	28112887	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:28112887G>A	ENST00000304658.5	-	23	3668	c.3168C>T	c.(3166-3168)gtC>gtT	p.V1056V	XPO6_ENST00000565698.1_Silent_p.V1042V	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	1056					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CATCAAAGTCGACTGAGGCCA	0.532000													15	18					0	0	0.000308642	0	0
VSTM4	196740	broad.mit.edu	37	10	50315832	50315832	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:50315832C>T	ENST00000332853.3	-	2	287	c.264G>A	c.(262-264)ggG>ggA	p.G88G	VSTM4_ENST00000298454.3_Silent_p.G88G	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	88	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGCTGAAATTCCCATAGTACT	0.627000													12	30					0	0	0.00010058	0	0
RAI1	10743	broad.mit.edu	37	17	17699344	17699344	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr17:17699344G>A	ENST00000353383.1	+	3	3551	c.3082G>A	c.(3082-3084)Gaa>Aaa	p.E1028K	RAI1_ENST00000261641.6_Missense_Mutation_p.E1028K	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1028						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTTGCTCCCTGAATCCTGCAC	0.682000													3	0					0	0	6.4e-05	0	0
PRRC2B	84726	broad.mit.edu	37	9	134319589	134319589	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:134319589C>G	ENST00000357304.4	+	5	542	c.487C>G	c.(487-489)Cga>Gga	p.R163G	PRRC2B_ENST00000405995.1_Missense_Mutation_p.R163G|PRRC2B_ENST00000458550.1_Missense_Mutation_p.R163G	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	163							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGGCTCAAGCCGACTGTTATC	0.537000													7	16					0	0	0.000274275	0	0
CNTN5	53942	broad.mit.edu	37	11	100064354	100064354	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:100064354G>A	ENST00000524871.1	+	15	2133	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.D615N|CNTN5_ENST00000527185.1_Missense_Mutation_p.D615N|CNTN5_ENST00000418526.2_Missense_Mutation_p.D541N|CNTN5_ENST00000528682.1_Missense_Mutation_p.D615N	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	615	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAGCCTATTGATTTCGAGGA	0.368000													37	53					0	0	0.000125731	0	0
KIAA0355	9710	broad.mit.edu	37	19	34832982	34832982	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:34832982C>T	ENST00000299505.6	+	10	3016	c.2143C>T	c.(2143-2145)Ccg>Tcg	p.P715S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	715										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GACACCCCAGCCGGGACTGGC	0.647000													25	46					0	0	0.000375601	0	0
SPRED3	399473	broad.mit.edu	37	19	38881013	38881013	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:38881013G>A	ENST00000338502.4	+	1	174	c.71G>A	c.(70-72)gGg>gAg	p.G24E	SPRED3_ENST00000586301.1_Missense_Mutation_p.G24E|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_Intron	NM_001042522.1	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	24	WH1.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTGGGGGGCGGGGGCCTCAGC	0.726000													5	13					0	0	3.59834e-05	0	0
ASXL3	80816	broad.mit.edu	37	18	31251810	31251810	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr18:31251810G>A	ENST00000269197.5	+	7	695	c.695G>A	c.(694-696)cGa>cAa	p.R232Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CACTTAAAACGATTAAAAAAG	0.313000													9	24					0	0	0.000442599	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100155	121100155	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:121100155C>T	ENST00000273666.6	+	23	2706	c.2435C>T	c.(2434-2436)tCc>tTc	p.S812F	STXBP5L_ENST00000497029.1_Missense_Mutation_p.S786F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S812F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S788F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S788F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	812					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CGAGAAAATTCCTATAATCGT	0.284000													37	66					0	0	0.000191422	0	0
TENM3	55714	broad.mit.edu	37	4	183714789	183714789	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:183714789G>A	ENST00000511685.1	+	26	7087	c.6964G>A	c.(6964-6966)Ggg>Agg	p.G2322R	TENM3_ENST00000406950.2_Missense_Mutation_p.G2322R					teneurin transmembrane protein 3																		CACTGCATATGGGGAAATCTA	0.413000													18	25					0	0	7.07596e-05	0	0
ITGAX	3687	broad.mit.edu	37	16	31382970	31382970	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:31382970G>A	ENST00000268296.4	+	17	2146	c.2025G>A	c.(2023-2025)gtG>gtA	p.V675V	ITGAX_ENST00000562522.1_Silent_p.V675V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	675					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AAAGCTCTGTGACCTTGGACC	0.637000													26	34					0	0	0.000227799	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891347	89891347	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:89891347G>A	ENST00000534061.1	+	7	1061	c.831G>A	c.(829-831)gtG>gtA	p.V277V	NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000321955.4_Silent_p.V277V|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	277	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAGAAGGAGTGGGAATCCCCC	0.313000													53	112					0	0	0.000147903	0	0
CCDC28A	25901	broad.mit.edu	37	6	139113921	139113921	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:139113921C>G	ENST00000332797.6	+	6	961	c.806C>G	c.(805-807)cCa>cGa	p.P269R		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	269										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CAAGATGTTCCAAATACTTCT	0.338000													24	31					0	0	0.000147802	0	0
MPDZ	8777	broad.mit.edu	37	9	13186385	13186385	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:13186385G>A	ENST00000319217.7	-	18	2612	c.2364_splice	c.e18-1	p.L789_splice	MPDZ_ENST00000447879.1_Splice_Site_p.L789_splice|MPDZ_ENST00000541718.1_Splice_Site_p.L789_splice|MPDZ_ENST00000536827.1_Splice_Site_p.L789_splice|MPDZ_ENST00000546205.1_Splice_Site_p.L789_splice|MPDZ_ENST00000381015.4_Splice_Site_p.L789_splice|MPDZ_ENST00000381022.2_Splice_Site_p.L789_splice	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	789					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCTGGTGAAAGCTGCAGGGAA	0.458000													5	4					0	0	0.000602214	0	0
LRBA	987	broad.mit.edu	37	4	151199140	151199140	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:151199140C>T	ENST00000535741.1	-	56	8806	c.8333G>A	c.(8332-8334)cGa>cAa	p.R2778Q	LRBA_ENST00000357115.3_Missense_Mutation_p.R2789Q|LRBA_ENST00000510413.1_Missense_Mutation_p.R2777Q|LRBA_ENST00000503716.1_5'UTR			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2789						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGCCCATCTCGGCTCAGCTG	0.542000													11	18					0	0	0.00010058	0	0
MTA3	57504	broad.mit.edu	37	2	42931360	42931360	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:42931360C>T	ENST00000405592.1	+	13	1551	c.881C>T	c.(880-882)tCc>tTc	p.S294F	MTA3_ENST00000406652.1_Missense_Mutation_p.S294F|MTA3_ENST00000406911.1_Missense_Mutation_p.S350F|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000405094.1_Missense_Mutation_p.S351F|MTA3_ENST00000407270.3_Missense_Mutation_p.S351F			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	351	SANT.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						AACCAAATATCCACTAGTAAT	0.418000													13	18					0	0	0.00010058	0	0
TTN	7273	broad.mit.edu	37	2	179622489	179622489	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:179622489C>T	ENST00000589042.1	-	45	10682	c.10458G>A	c.(10456-10458)gcG>gcA	p.A3486A	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Silent_p.A3440A|TTN_ENST00000360870.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3170							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A3440A(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)			CAGAAACCCTCGCATGAAATC	0.478000													22	77					0	0	0.00047179	0	0
DOCK3	1795	broad.mit.edu	37	3	51418834	51418834	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:51418834C>T	ENST00000266037.9	+	53	5960	c.5937C>T	c.(5935-5937)caC>caT	p.H1979H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1979						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGCCCTACCACCCCCGCCTGC	0.687000													7	7					0	0	0.000157383	0	0
C4BPA	722	broad.mit.edu	37	1	207307851	207307851	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:207307851C>T	ENST00000367070.3	+	9	1381	c.1187C>T	c.(1186-1188)tCa>tTa	p.S396L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	396	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GATGAGATTTCATTTTCATGT	0.423000													75	37					0	0	0.000147903	0	0
OR10X1	128367	broad.mit.edu	37	1	158549393	158549393	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:158549393T>A	ENST00000368150.1	-	1	296	c.297A>T	c.(295-297)gaA>gaT	p.E99D		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CCAGTAGATCTTCCAGCATCT	0.498000													52	20					0	0	0.000147903	0	0
WIPF1	7456	broad.mit.edu	37	2	175446111	175446111	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:175446111G>A	ENST00000392547.2	-	3	207	c.108C>T	c.(106-108)ctC>ctT	p.L36L	WIPF1_ENST00000392546.2_Silent_p.L36L|WIPF1_ENST00000409415.3_Silent_p.L36L|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Silent_p.L36L|WIPF1_ENST00000272746.5_Silent_p.L36L|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409891.1_Silent_p.L36L|WIPF1_ENST00000410117.1_Silent_p.L36L	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	36	WH2.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TATCAGAAAGGAGAGCATTTC	0.428000													38	88					0	0	0.000132358	0	0
ALAD	210	broad.mit.edu	37	9	116153860	116153860	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:116153860C>T	ENST00000409155.3	-	4	404	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	ALAD_ENST00000277315.5_Missense_Mutation_p.E53K|ALAD_ENST00000482001.1_5'UTR	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	70					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	AGGCCCTCTTCCACCAAGGGC	0.587000													13	27					0	0	7.07596e-05	0	0
ATG2A	23130	broad.mit.edu	37	11	64662526	64662526	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:64662526G>A	ENST00000421419.2	-	41	5856	c.5742C>T	c.(5740-5742)ctC>ctT	p.L1914L	ATG2A_ENST00000377264.3_Silent_p.L1912L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1912							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCATGCCCCCGAGCAGGCTGG	0.706000													25	32					0	0	0.000132358	0	0
GLCCI1	113263	broad.mit.edu	37	7	8125886	8125886	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:8125886C>T	ENST00000223145.5	+	8	1919	c.1362C>T	c.(1360-1362)atC>atT	p.I454I		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	454										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TTAATTTCATCCCAACCGGAT	0.438000													84	182					0	0	0.000147903	0	0
CYP7B1	9420	broad.mit.edu	37	8	65509349	65509349	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:65509349C>T	ENST00000310193.3	-	6	1544	c.1371G>A	c.(1369-1371)atG>atA	p.M457I	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	457					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GTTTTATTTCCATAAGTGCAA	0.353000													19	86					0	0	9.7654e-05	0	0
C4orf50	389197	broad.mit.edu	37	4	5990073	5990073	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:5990073C>T	ENST00000531445.1	-	1	1472		c.e1+1		C4orf50_ENST00000324058.5_Splice_Site			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						ACCCAACCTACCATGGGGCCA	0.537000													9	8					0	0	0.000442599	0	0
BTBD7	55727	broad.mit.edu	37	14	93755013	93755013	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:93755013A>G	ENST00000555525.1	-	3	1332	c.1226T>C	c.(1225-1227)tTt>tCt	p.F409S	BTBD7_ENST00000334746.5_Intron|BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Silent_p.L401L			Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	0										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)		agctgtttgaaagctctgctg	0.423000													40	87					0	0	0.000125731	0	0
ZNF556	80032	broad.mit.edu	37	19	2877665	2877665	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:2877665G>A	ENST00000586426.1	+	4	793	c.706G>A	c.(706-708)Ggg>Agg	p.G236R	ZNF556_ENST00000307635.2_Missense_Mutation_p.G237R			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		TGGGCAGTGTGGGAAAGGCTT	0.522000													8	22					0	0	0.000442599	0	0
COL27A1	85301	broad.mit.edu	37	9	116945341	116945341	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:116945341C>T	ENST00000356083.3	+	5	2393	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	668	Collagen-like 1.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCTCCCCGGCCCTCCTGGAGC	0.552000													30	39					0	0	0.000109025	0	0
DARS2	55157	broad.mit.edu	37	1	173799876	173799876	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:173799876C>T	ENST00000361951.4	+	4	1100	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	125					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	AGTCATTTCCCGTCCTGCAGG	0.453000													10	110					0	0	6.40141e-05	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061916	13061916	+	Missense_Mutation	SNP	C	C	T	rs150619249		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:13061916C>T	ENST00000014914.5	+	2	1623	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	245						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TGACACCATCCTCAGCTCCGC	0.552000													18	23					0	0	9.7654e-05	0	0
HPGD	3248	broad.mit.edu	37	4	175443155	175443155	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:175443155A>C	ENST00000296522.6	-	2	603	c.157T>G	c.(157-159)Ttt>Gtt	p.F53V	HPGD_ENST00000296521.7_Missense_Mutation_p.F53V|HPGD_ENST00000542498.1_Missense_Mutation_p.F53V|HPGD_ENST00000510901.1_5'UTR|HPGD_ENST00000504433.1_Missense_Mutation_p.F53V|HPGD_ENST00000422112.2_Missense_Mutation_p.F53V|HPGD_ENST00000541923.1_5'UTR	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	53					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	TGAGGTTCAAACTGCTCATCC	0.522000													24	89					0	0	0.000117367	0	0
TRMT2B	79979	broad.mit.edu	37	X	100292915	100292915	+	Silent	SNP	A	A	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:100292915A>T	ENST00000372936.3	-	5	1201	c.429T>A	c.(427-429)atT>atA	p.I143I	TRMT2B_ENST00000338687.7_Intron|TRMT2B_ENST00000545398.1_Silent_p.I143I|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372935.1_Silent_p.I143I|TRMT2B_ENST00000372931.5_Silent_p.I143I|TRMT2B_ENST00000372939.1_Intron	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	143							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CAGAGGGTATAATAGGATGGA	0.438000													122	155					0	0	0.000147903	0	0
TET1	80312	broad.mit.edu	37	10	70446152	70446152	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:70446152G>A	ENST00000373644.4	+	11	5301	c.5092G>A	c.(5092-5094)Gtt>Att	p.V1698I		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1698					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTCTTTGGGTGTTATTCCTCA	0.433000													34	57					0	0	0.000228196	0	0
LARP6	55323	broad.mit.edu	37	15	71125351	71125351	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr15:71125351G>A	ENST00000299213.8	-	3	586	c.516C>T	c.(514-516)ccC>ccT	p.P172P		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	172	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						ACAGTGGGACGGGGGTGGTCC	0.547000													6	25					0	0	3.59834e-05	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435464	7435464	+	Silent	SNP	G	G	A	rs139203507	by1000genomes	TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:7435464G>A	ENST00000319098.4	-	1	1236	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	381					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						GGGACGGCACGATGGCATAGG	0.607000													7	31					0	0	8.12818e-05	0	0
GIMAP1	170575	broad.mit.edu	37	7	150416143	150416143	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:150416143G>A	ENST00000307194.5	+	2	148	c.8G>A	c.(7-9)gGa>gAa	p.G3E		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCATGGGAGGAAGGAAGATG	0.413000													28	39					0	0	0.00058488	0	0
LCE3A	353142	broad.mit.edu	37	1	152595489	152595489	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:152595489T>A	ENST00000335674.1	-	1	90	c.91A>T	c.(91-93)Agc>Tgc	p.S31C		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	31					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCACAGCTGGAGGAAGCT	0.652000													24	15					0	0	0.00047179	0	0
TRPM4	54795	broad.mit.edu	37	19	49693571	49693571	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:49693571C>T	ENST00000252826.5	+	15	2252	c.2126C>T	c.(2125-2127)aCc>aTc	p.T709I	TRPM4_ENST00000355712.5_Missense_Mutation_p.T355I|TRPM4_ENST00000427978.2_Missense_Mutation_p.T709I	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	709					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGCCTCATCACCTTCAGGTCA	0.607000													22	38					0	0	0.000184323	0	0
KIAA0355	9710	broad.mit.edu	37	19	34832983	34832983	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:34832983C>A	ENST00000299505.6	+	10	3017	c.2144C>A	c.(2143-2145)cCg>cAg	p.P715Q		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	715										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					ACACCCCAGCCGGGACTGGCA	0.647000													25	49					5.35356e-11	8.18923e-10	0.000375601	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73076882	73076882	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:73076882C>T	ENST00000263674.3	+	20	6235	c.5885C>T	c.(5884-5886)cCc>cTc	p.P1962L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1962					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCACTCAGTCCCACAGGCCTC	0.662000													6	20					0	0	3.59834e-05	0	0
ENPEP	2028	broad.mit.edu	37	4	111470695	111470695	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:111470695C>T	ENST00000265162.5	+	16	2579	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	746					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTACTCCGTTCCTCCGTGTTA	0.383000													31	25					0	0	0.000109025	0	0
OTOGL	283310	broad.mit.edu	37	12	80735762	80735762	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:80735762G>A	ENST00000458043.2	+	43	5064	c.5058G>A	c.(5056-5058)agG>agA	p.R1686R	OTOGL_ENST00000547103.1_Silent_p.R1674R	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATGATCTAAGGATGCAAAATG	0.318000													4	7					0	0	0.00024832	0	0
TGIF2	60436	broad.mit.edu	37	20	35219439	35219439	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:35219439C>T	ENST00000373874.2	+	3	518	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.R107C|TGIF2-C20orf24_ENST00000558530.1_Intron	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	107	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGCCCTCCCCCGTGGCAGCAG	0.632000													32	74					0	0	0.000132358	0	0
ITGA2	3673	broad.mit.edu	37	5	52369055	52369055	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:52369055C>T	ENST00000296585.5	+	20	2680	c.2537C>T	c.(2536-2538)tCa>tTa	p.S846L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	846					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTTGATTTTTCAGAAAACTTG	0.373000													51	115					0	0	0.000147903	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39911623	39911623	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:39911623C>T	ENST00000409794.3	+	14	2284	c.1434C>T	c.(1432-1434)ggC>ggT	p.G478G	PLEKHG2_ENST00000378550.1_Silent_p.G478G|PLEKHG2_ENST00000458508.2_Silent_p.G419G|PLEKHG2_ENST00000425673.1_Intron|PLEKHG2_ENST00000409797.2_Silent_p.G478G	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	478					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCGCCGAGGCCGCAGGCAGT	0.667000													10	16					0	0	0.000442599	0	0
ITGA9	3680	broad.mit.edu	37	3	37565067	37565067	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:37565067C>T	ENST00000264741.5	+	12	1548	c.1292C>T	c.(1291-1293)tCg>tTg	p.S431L	ITGA9_ENST00000422441.1_Missense_Mutation_p.S431L	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	431					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CAGTCCATATCGGGAGGCATT	0.398000													42	40					0	0	0.000147903	0	0
GAS2	2620	broad.mit.edu	37	11	22833419	22833419	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:22833419G>A	ENST00000454584.2	+	8	1104	c.799G>A	c.(799-801)Gac>Aac	p.D267N	GAS2_ENST00000433790.1_Missense_Mutation_p.D267N|GAS2_ENST00000278187.3_Missense_Mutation_p.D267N	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	267	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GTTGAAACACGACCCCTGCCG	0.448000													26	38					0	0	9.22233e-05	0	0
DCLK3	85443	broad.mit.edu	37	3	36779400	36779400	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:36779400G>A	ENST00000416516.2	-	2	1241	c.751C>T	c.(751-753)Cct>Tct	p.P251S		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	251						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTGTGACAGGAAGAACTTCC	0.577000													38	69					0	0	0.000228196	0	0
DOCK2	1794	broad.mit.edu	37	5	169097555	169097555	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:169097555C>T	ENST00000256935.8	+	4	258	c.178C>T	c.(178-180)Cct>Tct	p.P60S		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	60	SH3.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCATTTTTCCTAAGTCATT	0.358000													30	62					0	0	0.000339439	0	0
LRRC10	376132	broad.mit.edu	37	12	70003788	70003788	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:70003788G>A	ENST00000361484.3	-	1	1154	c.831C>T	c.(829-831)tcC>tcT	p.S277S		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	277						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AAGCTCCTCAGGAGTTGGTAG	0.557000													6	22					0	0	8.12818e-05	0	0
PRDM12	59335	broad.mit.edu	37	9	133553953	133553953	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:133553953G>A	ENST00000253008.2	+	4	668	c.608G>A	c.(607-609)gGa>gAa	p.G203E		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	203	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GTGTGGTACGGAAACTCACAC	0.597000													22	39					0	0	9.22233e-05	0	0
DDR1	780	broad.mit.edu	37	6	30862422	30862422	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:30862422C>T	ENST00000324771.8	+	13	2035	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	DDR1_ENST00000376570.4_Missense_Mutation_p.S496F|DDR1_ENST00000361741.4_Missense_Mutation_p.P200S|DDR1_ENST00000376569.3_Missense_Mutation_p.S496F|DDR1_ENST00000376575.3_Missense_Mutation_p.S496F|DDR1_ENST00000452441.1_Missense_Mutation_p.S496F|DDR1_ENST00000418800.2_Missense_Mutation_p.S496F|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000513240.1_Missense_Mutation_p.S496F|DDR1_ENST00000376568.3_Missense_Mutation_p.S496F|DDR1_ENST00000376567.2_Missense_Mutation_p.S496F|DDR1_ENST00000508312.1_Missense_Mutation_p.S514F|DDR1_ENST00000454612.2_Missense_Mutation_p.S496F			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	496	Gly/Pro-rich.		S -> A (in a lung squamous cell carcinoma sample; somatic mutation).		cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCGCCCCACTCCGCTCCCTGT	0.587000													22	67					0	0	0.000586117	0	0
ATRX	546	broad.mit.edu	37	X	76937757	76937757	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:76937757G>A	ENST00000373344.5	-	9	3205	c.2991C>T	c.(2989-2991)gaC>gaT	p.D997D	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.D959D	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	997					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTCTTAAAGTCTGAAGGTT	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						45	127					0	0	0.000437636	0	0
MGAM	8972	broad.mit.edu	37	7	141752605	141752605	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:141752605C>T	ENST00000475668.2	+	26	3034	c.2980C>T	c.(2980-2982)Cct>Tct	p.P994S	MGAM_ENST00000549489.2_Missense_Mutation_p.P994S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	994	P-type 2.				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)	TTCTGGAGTCCCTTTTTGCTA	0.418000													38	122					0	0	0.000125731	0	0
DNAJB8	165721	broad.mit.edu	37	3	128182017	128182017	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:128182017G>A	ENST00000469083.1	-	2	2629	c.72C>T	c.(70-72)cgC>cgT	p.R24R	DNAJB8_ENST00000319153.3_Silent_p.R24R			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	24	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GGGCCAGCTTGCGGTAGGCTT	0.587000													35	63					0	0	0.000159656	0	0
WIPF1	7456	broad.mit.edu	37	2	175446110	175446110	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:175446110G>A	ENST00000392547.2	-	3	208	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	WIPF1_ENST00000392546.2_Missense_Mutation_p.L37F|WIPF1_ENST00000409415.3_Missense_Mutation_p.L37F|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.L37F|WIPF1_ENST00000272746.5_Missense_Mutation_p.L37F|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.L37F|WIPF1_ENST00000410117.1_Missense_Mutation_p.L37F	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	37	WH2.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ATATCAGAAAGGAGAGCATTT	0.433000													38	90					0	0	0.000132358	0	0
LRIT2	340745	broad.mit.edu	37	10	85981769	85981769	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:85981769G>A	ENST00000372113.4	-	3	1565	c.1560C>T	c.(1558-1560)tcC>tcT	p.S520S	LRIT2_ENST00000538192.1_Silent_p.S530S	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	520						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GTTCTCTAAAGGAGCCATCCT	0.597000													16	48					0	0	0.000422831	0	0
PHKA1	5255	broad.mit.edu	37	X	71819679	71819679	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:71819679G>A	ENST00000373545.3	-	28	3371	c.2933C>T	c.(2932-2934)tCa>tTa	p.S978L	PHKA1_ENST00000373542.4_Intron|PHKA1_ENST00000339490.3_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.S1037L|PHKA1_ENST00000541944.1_Intron			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1024					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AAAAGACGGTGACATCAAATC	0.338000													5	16					0	0	0.000157383	0	0
ERC2	26059	broad.mit.edu	37	3	56330067	56330067	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:56330067C>T	ENST00000288221.6	-	3	1309	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	352						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTATGTTTTCCTTCTCTTTC	0.413000													28	47					0	0	9.22233e-05	0	0
EPHB2	2048	broad.mit.edu	37	1	23232557	23232557	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:23232557G>A	ENST00000400191.3	+	10	1861	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	EPHB2_ENST00000374627.1_Missense_Mutation_p.E610K|EPHB2_ENST00000374632.3_Missense_Mutation_p.E616K|EPHB2_ENST00000374630.3_Missense_Mutation_p.E615K	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	615					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.E615K(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTTTGCCAAGGAAATTGACAT	0.537000													20	15					0	0	0.000295444	0	0
CBX6	23466	broad.mit.edu	37	22	39263083	39263083	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr22:39263083G>A	ENST00000407418.3	-	5	493	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	CBX6_ENST00000216083.6_Missense_Mutation_p.R106C			O95503	CBX6_HUMAN	chromobox homolog 6	124					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					TGGCAGCGGCGGATGTCCTTC	0.697000													5	6					0	0	8.12818e-05	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416244	57416244	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr16:57416244C>T	ENST00000565912.1	+	2	3086	c.380C>T	c.(379-381)tCa>tTa	p.S127L	CX3CL1_ENST00000563383.1_Missense_Mutation_p.S171L|CX3CL1_ENST00000006053.6_Missense_Mutation_p.S165L|CX3CL1_ENST00000564948.1_3'UTR			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	165	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						ACTGGTTCCTCAGGGACCAGG	0.672000													16	13					0	0	7.07596e-05	0	0
TMEM71	137835	broad.mit.edu	37	8	133759319	133759319	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:133759319G>A	ENST00000523829.1	-	5	477	c.356C>T	c.(355-357)tCt>tTt	p.S119F	TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.S119F|TMEM71_ENST00000356838.3_Intron			Q6P5X7	TMM71_HUMAN	transmembrane protein 71	119						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GTTGAAGAGAGAAGAAAAGGA	0.398000													19	38					0	0	0.000132079	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208841904	208841904	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:208841904G>A	ENST00000457206.1	-	3	1444	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	PLEKHM3_ENST00000389247.4_Silent_p.F339F|PLEKHM3_ENST00000427836.2_Silent_p.F339F			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	339					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTTTCTTCTGGAAACTATGAT	0.522000													19	69					0	0	0.000175454	0	0
CKAP5	9793	broad.mit.edu	37	11	46839972	46839972	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:46839972G>A	ENST00000529230.1	-	3	186	c.140C>T	c.(139-141)tCc>tTc	p.S47F	CKAP5_ENST00000312055.5_Missense_Mutation_p.S47F|CKAP5_ENST00000415402.1_Missense_Mutation_p.S47F|CKAP5_ENST00000354558.3_Missense_Mutation_p.S47F			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	47					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TAAAAATTTGGACCACTCTGG	0.373000													78	147					0	0	0.000147903	0	0
HHAT	55733	broad.mit.edu	37	1	210577939	210577939	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:210577939C>T	ENST00000367010.1	+	6	827	c.600C>T	c.(598-600)tcC>tcT	p.S200S	HHAT_ENST00000391905.3_Silent_p.S200S|HHAT_ENST00000537898.1_Silent_p.S135S|HHAT_ENST00000261458.3_Silent_p.S200S|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000545154.1_Silent_p.S201S|HHAT_ENST00000413764.2_Silent_p.S200S|HHAT_ENST00000308852.6_Silent_p.S155S|HHAT_ENST00000545781.1_Silent_p.S137S	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	200					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCTCCTACTCCTTTCCCTGGA	0.562000													10	74					0	0	3.86212e-05	0	0
C10orf71	118461	broad.mit.edu	37	10	50531640	50531640	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:50531640G>A	ENST00000374144.3	+	3	1338	c.1050G>A	c.(1048-1050)ggG>ggA	p.G350G	C10orf71_ENST00000323868.4_Silent_p.G350G			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	350										endometrium(1)	1						TACCCTGGGGGTGCAGGGATC	0.592000													4	18					0	0	0.000274275	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490176	37490176	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:37490176C>A	ENST00000374660.1	+	37	3080	c.2981C>A	c.(2980-2982)aCt>aAt	p.T994N	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T875N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T875N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1023						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			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						CTCCGTGAGACTGTTTCACAG	0.274000													21	82					5.26018e-13	8.08964e-12	0.000229342	1	0
DST	667	broad.mit.edu	37	6	56499366	56499366	+	Missense_Mutation	SNP	G	G	A	rs141002593		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:56499366G>A	ENST00000370754.5	-	25	3288	c.3289C>T	c.(3289-3291)Cgt>Tgt	p.R1097C	DST_ENST00000370765.6_Missense_Mutation_p.R593C|DST_ENST00000370788.2_Missense_Mutation_p.R919C|DST_ENST00000370769.4_Missense_Mutation_p.R919C|DST_ENST00000361203.3_Missense_Mutation_p.R919C|DST_ENST00000421834.2_Missense_Mutation_p.R919C|DST_ENST00000518935.1_Missense_Mutation_p.R593C|DST_ENST00000446842.2_Missense_Mutation_p.R593C|DST_ENST00000244364.6_Missense_Mutation_p.R593C|DST_ENST00000312431.6_Missense_Mutation_p.R919C			Q03001	DYST_HUMAN	dystonin	919					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATTTAGCACGATGAGAGTTA	0.423000													49	31					0	0	0.000147903	0	0
MUC16	94025	broad.mit.edu	37	19	9063573	9063573	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:9063573G>A	ENST00000397910.4	-	3	24076	c.23873C>T	c.(23872-23874)tCa>tTa	p.S7958L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7960	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCATCCATGATACATCCTC	0.453000													20	40					0	0	9.7654e-05	0	0
HAP1	9001	broad.mit.edu	37	17	39881157	39881157	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr17:39881157C>T	ENST00000393939.2	-	10	1590	c.1581G>A	c.(1579-1581)cgG>cgA	p.R527R	HAP1_ENST00000347901.4_Silent_p.R552R|HAP1_ENST00000341193.5_Silent_p.R535R|HAP1_ENST00000310778.5_Silent_p.R604R|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	604	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCACGTTCATCCGCGTTGCCT	0.617000													65	86					0	0	0.000147903	0	0
PIK3R4	30849	broad.mit.edu	37	3	130398288	130398288	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:130398288G>A	ENST00000356763.3	-	20	4505	c.3948C>T	c.(3946-3948)acC>acT	p.T1316T		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1316					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CCCTTCGAGGGGTGTCATCAC	0.483000													27	59					0	0	0.000491102	0	0
POLG	5428	broad.mit.edu	37	15	89876715	89876715	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr15:89876715C>T	ENST00000268124.5	-	2	604	c.271G>A	c.(271-273)Gga>Aga	p.G91R	POLG_ENST00000442287.2_Missense_Mutation_p.G91R	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	91					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ATCTCCCCTCCTTGCCCGAAG	0.682000								DNA polymerases (catalytic subunits)					4	11					0	0	0.00024832	0	0
FLNB	2317	broad.mit.edu	37	3	58111339	58111339	+	Silent	SNP	C	C	T	rs150901141		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:58111339C>T	ENST00000357272.4	+	23	4095	c.3930C>T	c.(3928-3930)gaC>gaT	p.D1310D	FLNB_ENST00000419752.2_Silent_p.D1141D|FLNB_ENST00000348383.5_Silent_p.D1310D|FLNB_ENST00000295956.4_Silent_p.D1310D|FLNB_ENST00000493452.1_Silent_p.D1141D|FLNB_ENST00000490882.1_Silent_p.D1310D|FLNB_ENST00000358537.3_Silent_p.D1310D|FLNB_ENST00000429972.2_Silent_p.D1310D			O75369	FLNB_HUMAN	filamin B, beta	1310	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CATATGATGACGTGCCTATCC	0.463000													36	70					0	0	0.000589545	0	0
CROCCP3	114819	broad.mit.edu	37	1	16817192	16817192	+	RNA	SNP	A	A	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:16817192A>G	ENST00000263511.4	-	0	1075					NR_023386.1																						CACCTTTTGTATGTCCTCACT	0.627000													4	4					0	0	0.000602214	0	0
USP9X	8239	broad.mit.edu	37	X	41055614	41055614	+	Splice_Site	SNP	T	T	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:41055614T>G	ENST00000324545.7	+	27	4719		c.e27+2		USP9X_ENST00000378308.2_Splice_Site	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTTTTGGGGGTGAGACTTTTT	0.378000													44	66					0	0	0.000589545	0	0
FRMPD2	143162	broad.mit.edu	37	10	49457098	49457098	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:49457098C>T	ENST00000374201.3	-	3	577	c.275G>A	c.(274-276)gGa>gAa	p.G92E	FRMPD2_ENST00000407470.4_Missense_Mutation_p.G83E|FRMPD2_ENST00000305531.3_Missense_Mutation_p.G90E	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	92	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTCACTCTGTCCCTGTAGCAG	0.562000													15	19					0	0	0.000566183	0	0
NFXL1	152518	broad.mit.edu	37	4	47899986	47899986	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:47899986G>A	ENST00000507489.1	-	9	1378	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L	NFXL1_ENST00000381538.3_Missense_Mutation_p.S401L|NFXL1_ENST00000329043.3_Missense_Mutation_p.S401L	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	401						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AGTCTTACTTGATTTCTGACA	0.383000													21	25					0	0	0.000229342	0	0
PTPN14	5784	broad.mit.edu	37	1	214551323	214551323	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:214551323G>A	ENST00000366956.5	-	14	2861	c.2667C>T	c.(2665-2667)acC>acT	p.T889T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	889					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGGAACCCGGGTGGCATCAA	0.562000													13	79					0	0	0.000151284	0	0
RIMS1	22999	broad.mit.edu	37	6	73108683	73108683	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:73108683G>A	ENST00000264839.7	+	29	4294	c.4294G>A	c.(4294-4296)Gaa>Aaa	p.E1432K	RIMS1_ENST00000401910.3_Missense_Mutation_p.E903K|RIMS1_ENST00000491071.2_Missense_Mutation_p.E1372K|RIMS1_ENST00000517960.1_Missense_Mutation_p.E1366K|RIMS1_ENST00000518273.1_Missense_Mutation_p.E1262K|RIMS1_ENST00000348717.5_Missense_Mutation_p.E1366K|RIMS1_ENST00000538414.1_Missense_Mutation_p.E389K|RIMS1_ENST00000517827.1_Missense_Mutation_p.E717K|RIMS1_ENST00000522291.1_Missense_Mutation_p.E1182K|RIMS1_ENST00000414192.2_Missense_Mutation_p.E110K|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000520567.1_Missense_Mutation_p.E1233K|RIMS1_ENST00000521978.1_Missense_Mutation_p.E1583K|RIMS1_ENST00000523963.1_Missense_Mutation_p.E708K|RIMS1_ENST00000425662.2_Missense_Mutation_p.E651K			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1583					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATATCTTTTGGAAAATGGGGC	0.333000													9	51					0	0	0.000442599	0	0
DEFB129	140881	broad.mit.edu	37	20	207945	207945	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:207945C>T	ENST00000246105.4	+	1	47	c.16C>T	c.(16-18)Cct>Tct	p.P6S		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	6					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GCTCCTTTTTCCTATCTTTGC	0.498000													46	72					0	0	0.000147903	0	0
RBP3	5949	broad.mit.edu	37	10	48383871	48383871	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:48383871C>T	ENST00000224600.4	-	3	3474	c.3361G>A	c.(3361-3363)Gaa>Aaa	p.E1121K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1121	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTCCAGAGTTCACTGACAGAG	0.522000													19	42					0	0	0.000375601	0	0
TMEM63C	57156	broad.mit.edu	37	14	77706030	77706030	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:77706030C>T	ENST00000298351.4	+	12	1035	c.891C>T	c.(889-891)gcC>gcT	p.A297A		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	297						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ACCCCTGTGCCCGCCTGTGCT	0.622000													4	7					0	0	0.000602214	0	0
IQCF1	132141	broad.mit.edu	37	3	51937094	51937094	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr3:51937094C>T	ENST00000310914.5	-	2	77	c.15G>A	c.(13-15)caG>caA	p.Q5Q		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	5								p.Q5H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCTTTTGGGGCTGCTTCTCCT	0.537000													112	183					0	0	0.000147903	0	0
ZMYND15	84225	broad.mit.edu	37	17	4644070	4644070	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr17:4644070A>G	ENST00000433935.1	+	2	284	c.227A>G	c.(226-228)gAa>gGa	p.E76G	ZMYND15_ENST00000269289.6_Missense_Mutation_p.E76G|ZMYND15_ENST00000592813.1_Missense_Mutation_p.E76G|ZMYND15_ENST00000573751.2_Missense_Mutation_p.E76G	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	76							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CAAGGGGCAGAACCAGGTCCT	0.632000													7	6					0	0	8.12818e-05	0	0
OR52M1	119772	broad.mit.edu	37	11	4567275	4567275	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:4567275C>T	ENST00000360213.1	+	1	855	c.855C>T	c.(853-855)ctC>ctT	p.L285L		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTATCTCCTCATTCCTCCAA	0.458000													15	25					0	0	0.000422831	0	0
LRRC18	474354	broad.mit.edu	37	10	50121505	50121505	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:50121505C>T	ENST00000374160.3	-	1	772	c.696G>A	c.(694-696)ccG>ccA	p.P232P	RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Silent_p.P232P	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	232						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TGGTCTTTCTCGGTGTCGTCG	0.527000													35	70					0	0	0.00058488	0	0
DEPTOR	64798	broad.mit.edu	37	8	121013833	121013833	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:121013833G>A	ENST00000286234.5	+	5	804	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Missense_Mutation_p.R124Q	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	225	Poly-Arg.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						CGGCGGAGGCGAAGACTGATG	0.493000													30	30					0	0	0.00058488	0	0
MAP3K4	4216	broad.mit.edu	37	6	161528978	161528978	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr6:161528978G>A	ENST00000392142.4	+	21	4244	c.4096G>A	c.(4096-4098)Ggg>Agg	p.G1366R	MAP3K4_ENST00000348824.7_Missense_Mutation_p.G1312R|MAP3K4_ENST00000366920.2_Missense_Mutation_p.G1362R|MAP3K4_ENST00000366919.2_Missense_Mutation_p.G1316R	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1366	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CGTCGACACCGGGGAGCTGAT	0.577000													14	12					0	0	0.000219431	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136594218	136594218	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:136594218C>T	ENST00000355849.5	+	6	1119	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	237	Interaction with SIAH1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GCCAGTGAGTCGGGGAAGAGG	0.602000													34	27					0	0	0.000339439	0	0
PI4K2A	55361	broad.mit.edu	37	10	99410889	99410889	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:99410889C>T	ENST00000370631.3	+	2	684	c.627C>T	c.(625-627)ccC>ccT	p.P209P	PI4K2A_ENST00000555577.1_Silent_p.P179P|PI4K2A_ENST00000370649.3_Silent_p.P179P	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	209	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		ACATTGTTCCCCGTACAAAGG	0.552000													6	21					0	0	0.000157383	0	0
CYP27C1	339761	broad.mit.edu	37	2	127956997	127956997	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:127956997C>T	ENST00000335247.7	-	4	637	c.507G>A	c.(505-507)gaG>gaA	p.E169E	CYP27C1_ENST00000409327.1_Silent_p.E169E	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	169						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TGGCGTAGATCTCCTGCAGCG	0.577000													13	37					0	0	0.00010058	0	0
TNR	7143	broad.mit.edu	37	1	175355293	175355293	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:175355293C>T	ENST00000367674.1	-	8	2360	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	TNR_ENST00000263525.2_Missense_Mutation_p.R551Q	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	551	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				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)					AGGCTGCAGCCGGAAGGTGGT	0.597000													5	28					0	0	0.000602214	0	0
HKR1	284459	broad.mit.edu	37	19	37854094	37854094	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:37854094T>C	ENST00000591471.1	+	9	2219	c.578T>C	c.(577-579)gTt>gCt	p.V193A	HKR1_ENST00000541583.2_Missense_Mutation_p.V405A|HKR1_ENST00000324411.4_Missense_Mutation_p.V466A|HKR1_ENST00000544914.1_Missense_Mutation_p.V193A|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.V447A|HKR1_ENST00000589392.1_Missense_Mutation_p.V448A			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	466					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTCAGGGGTTAAACCTTAT	0.488000													15	30					0	0	0.000422831	0	0
C2CD3	26005	broad.mit.edu	37	11	73760455	73760455	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:73760455G>A	ENST00000334126.7	-	27	5514	c.5288C>T	c.(5287-5289)tCc>tTc	p.S1763F	C2CD3_ENST00000313663.7_Missense_Mutation_p.S1763F			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1763						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTCCAAAGGGGAGACAGCAAC	0.488000													15	36					0	0	0.000422831	0	0
SNHG14	104472715	broad.mit.edu	37	15	25328765	25328765	+	RNA	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr15:25328765C>T	ENST00000546682.1	+	0	320				SNORD116-17_ENST00000383929.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						ATATACATTCCTTGGAAAGCT	0.423000													8	73					0	0	3.86212e-05	0	0
LIG1	3978	broad.mit.edu	37	19	48634357	48634357	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:48634357C>T	ENST00000263274.7	-	19	2216	c.1797G>A	c.(1795-1797)ccG>ccA	p.P599P	LIG1_ENST00000536218.1_Silent_p.P531P|LIG1_ENST00000427526.2_Silent_p.P568P	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	599					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGATGATGTCCGGGTACTTCC	0.597000								Nucleotide excision repair (NER)					15	23					0	0	9.7654e-05	0	0
PRG4	10216	broad.mit.edu	37	1	186280225	186280225	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:186280225G>A	ENST00000445192.2	+	9	3604	c.3559G>A	c.(3559-3561)Gaa>Aaa	p.E1187K	PRG4_ENST00000367485.4_Missense_Mutation_p.E1094K|PRG4_ENST00000367484.3_Missense_Mutation_p.E716K|PRG4_ENST00000367486.3_Missense_Mutation_p.E1144K|PRG4_ENST00000367483.4_Missense_Mutation_p.E1146K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1187	Hemopexin-like 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAGAATTACTGAAGTTTGGGG	0.388000													71	44					0	0	0.000147903	0	0
MAP4K4	9448	broad.mit.edu	37	2	102480488	102480488	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:102480488C>T	ENST00000324219.4	+	17	2146	c.2072C>T	c.(2071-2073)tCa>tTa	p.S691L	MAP4K4_ENST00000413150.2_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.S586L|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000347699.4_Intron|MAP4K4_ENST00000425019.1_Intron|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350198.4_Intron			O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	617					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGGTCTAGATCAGACAGTGAC	0.453000													7	25					0	0	8.12818e-05	0	0
PRAM1	84106	broad.mit.edu	37	19	8563934	8563934	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:8563934G>A	ENST00000423345.4	-	2	1278	c.758C>T	c.(757-759)cCc>cTc	p.P253L	PRAM1_ENST00000255612.3_Missense_Mutation_p.P253L			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	301	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTTCCAGAGGGGAGTCTGAGC	0.627000													13	25					0	0	0.000219431	0	0
KCNB1	3745	broad.mit.edu	37	20	47990233	47990233	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr20:47990233G>A	ENST00000371741.4	-	2	2030	c.1864C>T	c.(1864-1866)Cca>Tca	p.P622S		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	622					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCACTTCTGGGGCTGTGCTG	0.587000													12	21					0	0	6.40141e-05	0	0
TMEM182	130827	broad.mit.edu	37	2	103431399	103431399	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:103431399T>C	ENST00000412401.2	+	5	867	c.662T>C	c.(661-663)gTt>gCt	p.V221A	TMEM182_ENST00000409528.1_Missense_Mutation_p.V125A|TMEM182_ENST00000486293.1_Intron|TMEM182_ENST00000409173.1_Missense_Mutation_p.V178A	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	221						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TTTCTGGTTGTTGGATGGCAT	0.373000													9	32					0	0	6.40141e-05	0	0
OR52E2	119678	broad.mit.edu	37	11	5080083	5080083	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:5080083A>T	ENST00000321522.2	-	1	774	c.775T>A	c.(775-777)Tcc>Acc	p.S259T		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GTCATAAAGGAAAAGAGGGCT	0.473000													23	50					0	0	0.000375601	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761575	13761575	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr12:13761575C>T	ENST00000279593.3	-	9	2181	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	658					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCACATATTCCTCTTGGATC	0.498000													9	26					0	0	3.86212e-05	0	0
RYR1	6261	broad.mit.edu	37	19	39023333	39023333	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:39023333G>A	ENST00000355481.4	+	77	11332	c.11201G>A	c.(11200-11202)gGg>gAg	p.G3734E	RYR1_ENST00000360985.3_Missense_Mutation_p.G3739E|RYR1_ENST00000359596.3_Missense_Mutation_p.G3739E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3739					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGGAGGGAGGGGAGAACGGT	0.602000													7	21					0	0	3.86212e-05	0	0
KCNE3	10008	broad.mit.edu	37	11	74168377	74168377	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr11:74168377C>T	ENST00000310128.4	-	3	651	c.232G>A	c.(232-234)Gga>Aga	p.G78R	KCNE3_ENST00000525550.1_Missense_Mutation_p.G78R|RP11-702H23.4_ENST00000533008.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	78						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					CGGGTGTATCCCAGGATGAGG	0.517000													10	25					0	0	0.000442599	0	0
ATAD2	29028	broad.mit.edu	37	8	124346237	124346237	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:124346237G>A	ENST00000287394.5	-	24	3466	c.3359C>T	c.(3358-3360)cCg>cTg	p.P1120L	ATAD2_ENST00000521903.1_Missense_Mutation_p.P438L	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTAGTAAGACGGGGCATATTT	0.378000													24	95					0	0	0.000586117	0	0
OR2T2	401992	broad.mit.edu	37	1	248616301	248616301	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:248616301C>T	ENST00000342927.3	+	1	225	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S68F(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCCAGCTCTCCATCATGGAT	0.512000													43	90					0	0	0.000147903	0	0
GABRE	2564	broad.mit.edu	37	X	151123984	151123984	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:151123984G>A	ENST00000370325.1	-	8	1046	c.993C>T	c.(991-993)ttC>ttT	p.F331F	GABRE_ENST00000370328.3_Silent_p.F331F|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	331					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGACACGCGGGAAATTCTTAC	0.507000													18	60					0	0	9.7654e-05	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026654	176026654	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr5:176026654G>A	ENST00000303991.4	-	2	359	c.182C>T	c.(181-183)cCt>cTt	p.P61L		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	61						growth cone|plasma membrane		p.P61H(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTTTGGTCAGGGGTGTGCCT	0.672000													20	42					0	0	0.000147802	0	0
C10orf68	79741	broad.mit.edu	37	10	33140760	33140760	+	Silent	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:33140760C>T	ENST00000375030.2	+	21	2145	c.1527C>T	c.(1525-1527)ccC>ccT	p.P509P	C10orf68_ENST00000375028.3_Silent_p.P554P|C10orf68_ENST00000375025.4_Silent_p.P614P			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	550										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ACTCTTCACCCTATGTGACTG	0.343000													51	76					0	0	0.000147903	0	0
RALGDS	5900	broad.mit.edu	37	9	135977952	135977952	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:135977952G>A	ENST00000393160.3	-	14	2108	c.1755C>T	c.(1753-1755)aaC>aaT	p.N585N	RALGDS_ENST00000542690.1_Silent_p.N711N|RALGDS_ENST00000372050.3_Silent_p.N640N|RALGDS_ENST00000393157.3_Silent_p.N639N|RALGDS_ENST00000372047.3_Silent_p.N628N|RALGDS_ENST00000372062.3_Silent_p.N611N|RALGDS_ENST00000469972.1_5'UTR	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	640	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CGCACGACAGGTTGTAGCTAT	0.642000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								24	35					0	0	9.22233e-05	0	0
ZNF326	284695	broad.mit.edu	37	1	90483007	90483007	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:90483007T>G	ENST00000340281.4	+	8	1201	c.1058T>G	c.(1057-1059)gTt>gGt	p.V353G	ZNF326_ENST00000455342.2_Missense_Mutation_p.V147G|ZNF326_ENST00000370447.2_Missense_Mutation_p.V264G	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GATAAAGTAGTTATGGAGTTT	0.313000													5	55					0	0	0.000442599	0	0
DOCK1	1793	broad.mit.edu	37	10	129141980	129141980	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr10:129141980C>T	ENST00000280333.6	+	31	3240	c.3131C>T	c.(3130-3132)tCa>tTa	p.S1044L	DOCK1_ENST00000484400.1_3'UTR	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1044					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			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)		GAGAATTTTTCAAGTGCCAAG	0.428000													7	8					0	0	0.000274275	0	0
UBE4B	10277	broad.mit.edu	37	1	10186901	10186901	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:10186901C>T	ENST00000377157.3	+	10	1930	c.869C>T	c.(868-870)tCc>tTc	p.S290F	UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000253251.8_Missense_Mutation_p.S406F|UBE4B_ENST00000343090.6_Missense_Mutation_p.S535F	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	535					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			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)		AAAGAGTGCTCCCTCGACAGT	0.323000													37	41					0	0	0.000125731	0	0
LAMA1	284217	broad.mit.edu	37	18	6978196	6978196	+	Splice_Site	SNP	G	G	A	rs144466305		TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr18:6978196G>A	ENST00000389658.3	-	43	6282	c.6190_splice	c.e43+1	p.A2063_splice		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2063	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGACATACTGGCCATGGTGG	0.552000													34	60					0	0	0.000109025	0	0
REPIN1	29803	broad.mit.edu	37	7	150069908	150069908	+	Silent	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:150069908G>A	ENST00000397281.2	+	4	2067	c.1578G>A	c.(1576-1578)caG>caA	p.Q526Q	REPIN1_ENST00000489432.2_Silent_p.Q583Q|REPIN1_ENST00000540729.1_Silent_p.Q526Q|REPIN1_ENST00000425389.2_Silent_p.Q526Q|REPIN1_ENST00000444957.1_Silent_p.Q526Q|REPIN1_ENST00000479668.1_3'UTR	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	526					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCTTCAGCCAGAAGTCCAACC	0.647000													8	24					0	0	0.000442599	0	0
ZBED1	9189	broad.mit.edu	37	X	2408217	2408217	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chrX:2408217C>T	ENST00000381223.4	-	2	747	c.544G>A	c.(544-546)Gag>Aag	p.E182K	ZBED1_ENST00000381218.3_Missense_Mutation_p.E182K|ZBED1_ENST00000381222.2_Missense_Mutation_p.E182K|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	182						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				AGGATCACCTCCCGGACGGCC	0.632000													30	83					0	0	0.000339439	0	0
SUGP2	10147	broad.mit.edu	37	19	19135649	19135649	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr19:19135649C>G	ENST00000601879.1	-	3	1805	c.1508G>C	c.(1507-1509)gGc>gCc	p.G503A	SUGP2_ENST00000337018.6_Missense_Mutation_p.G503A|SUGP2_ENST00000600377.1_Missense_Mutation_p.G517A|SUGP2_ENST00000452918.2_Missense_Mutation_p.G503A|SUGP2_ENST00000456085.2_Missense_Mutation_p.G272A			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	503					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ATCTTGCAGGCCGACAGCTTC	0.512000													44	66					0	0	0.000147903	0	0
SAMD9	54809	broad.mit.edu	37	7	92734352	92734352	+	Silent	SNP	C	C	T	rs145911444	byFrequency	TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:92734352C>T	ENST00000379958.2	-	3	1328	c.1059G>A	c.(1057-1059)acG>acA	p.T353T		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	353						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTATTTTTCGTAATGTCCT	0.318000													28	58					0	0	0.000227799	0	0
RBPMS	11030	broad.mit.edu	37	8	30402095	30402095	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:30402095C>T	ENST00000320203.4	+	6	1064	c.482C>T	c.(481-483)gCt>gTt	p.A161V	RBPMS_ENST00000287771.5_Missense_Mutation_p.A161V|RBPMS_ENST00000397323.4_Missense_Mutation_p.A161V|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000520191.1_Missense_Mutation_p.A57V|RBPMS_ENST00000520161.1_Missense_Mutation_p.A57V|RBPMS_ENST00000519647.1_Missense_Mutation_p.A57V|RBPMS_ENST00000517860.1_Missense_Mutation_p.A161V|RBPMS_ENST00000339877.4_Missense_Mutation_p.A161V	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	161					positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TTAGCGCCTGCTCTACCTCCT	0.542000													32	28					0	0	0.00058488	0	0
PYGL	5836	broad.mit.edu	37	14	51372192	51372192	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr14:51372192T>A	ENST00000216392.7	-	20	2794	c.2462A>T	c.(2461-2463)tAt>tTt	p.Y821F	PYGL_ENST00000544180.2_Missense_Mutation_p.Y787F|PYGL_ENST00000532462.1_Intron	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	821					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GTTTTGGGCATATTCTTTAAT	0.383000													25	83					0	0	0.000586117	0	0
GLI2	2736	broad.mit.edu	37	2	121742237	121742237	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr2:121742237C>T	ENST00000452319.1	+	12	1934	c.1874C>T	c.(1873-1875)cCa>cTa	p.P625L	GLI2_ENST00000361492.4_Missense_Mutation_p.P625L|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.P297L			P10070	GLI2_HUMAN	GLI family zinc finger 2	625			P -> S (in dbSNP:rs3099537).		axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTGGCGGCCCAGAGAGCACC	0.662000													6	13					0	0	0.000157383	0	0
SOX7	83595	broad.mit.edu	37	8	10583576	10583576	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr8:10583576G>A	ENST00000304501.1	-	2	917	c.839C>T	c.(838-840)tCt>tTt	p.S280F	SOX7_ENST00000554914.1_Missense_Mutation_p.S332F|SOX7_ENST00000553390.1_Missense_Mutation_p.S332F	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	280	Sox C-terminal.				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			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)		ATAGGCAGGAGATGGGGGACA	0.677000													10	12					0	0	3.86212e-05	0	0
TNFRSF8	943	broad.mit.edu	37	1	12198305	12198305	+	Missense_Mutation	SNP	C	C	T	rs141539189	byFrequency	TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr1:12198305C>T	ENST00000263932.2	+	14	1577	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L	TNFRSF8_ENST00000479933.2_Intron|TNFRSF8_ENST00000413146.2_5'UTR|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.S340L	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	452					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGGTGCGTCGGTGACAGAA	0.627000													16	10					0	0	0.000566183	0	0
RGS12	6002	broad.mit.edu	37	4	3432408	3432408	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr4:3432408delC	ENST00000336727.3	+	17	4744	c.3840delC	c.(3838-3840)agfs	p.S1280fs	RGS12_ENST00000382788.3_Frame_Shift_Del_p.S1280fs|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000344733.5_Frame_Shift_Del_p.S1280fs|RGS12_ENST00000338806.4_Frame_Shift_Del_p.S632fs	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1280						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGCCTCCAGCCCCCCTGGAC	0.741													2	4	---	---	---	---					
WDR86	349136	broad.mit.edu	37	7	151106512	151106512	+	Splice_Site	DEL	C	C	-			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr7:151106512delC	ENST00000334493.6	-	1	594		c.e1+1		WDR86_ENST00000477459.1_Intron|WDR86_ENST00000469830.2_Splice_Site|WDR86-AS1_ENST00000480632.1_RNA|WDR86-AS1_ENST00000489632.1_RNA	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86											breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGGGTCTACCTTGCAGGAG	0.721													2	4	---	---	---	---					
OR13C8	138802	broad.mit.edu	37	9	107331747	107331747	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FS-A1Z0-06A-11D-A197-08	TCGA-FS-A1Z0-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8211344c-0702-450c-8650-b9576db5f55a	0e02a3f4-6e67-4299-94bf-2e05b165dd4c	g.chr9:107331747delA	ENST00000335040.1	+	1	299	c.299delA	c.(298-300)cafs	p.Q100fs		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGTATGGTGCAAATGTTTATT	0.493													46	105	---	---	---	---					
