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
GALR1	2587	broad.mit.edu	37	18	74968116	74968116	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:74968116C>T	ENST00000299727.3	+	2	669	c.669C>T	c.(667-669)gtC>gtT	p.V223V	GALR1_ENST00000582943.1_3'UTR	NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	223					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TCTTTCAGGTCCTTAATCACT	0.343000													28	48					0	0	0.003755	0	0
MUC17	140453	broad.mit.edu	37	7	100681034	100681034	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:100681034C>T	ENST00000306151.4	+	3	6401	c.6337C>T	c.(6337-6339)Ccg>Tcg	p.P2113S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2113	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCACGCCGGTGGCCAG	0.498000													222	182					0	0	0.003610	0	0
RYR3	6263	broad.mit.edu	37	15	33822854	33822854	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:33822854C>T	ENST00000389232.4	+	4	411	c.341C>T	c.(340-342)tCt>tTt	p.S114F	RYR3_ENST00000415757.3_Missense_Mutation_p.S114F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	114	MIR 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGGCACTCTTTCAGCGGA	0.512000													11	18					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179408344	179408344	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179408344C>T	ENST00000589042.1	-	347	96580	c.96356G>A	c.(96355-96357)aGa>aAa	p.R32119K	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29551K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R30478K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23246K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23054K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23179K|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30478	Fibronectin type-III 132.						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)			CACAGAATCTCTTGATACTTC	0.393000													12	15					0	0	0.001368	0	0
CNGA3	1261	broad.mit.edu	37	2	99013074	99013074	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:99013074C>T	ENST00000393504.1	+	8	1858	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	CNGA3_ENST00000272602.2_Missense_Mutation_p.R481C|CNGA3_ENST00000409937.1_Missense_Mutation_p.R485C|CNGA3_ENST00000436404.2_Missense_Mutation_p.R463C	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	481					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GAAGAAGGTTCGCATCTTCCA	0.567000													7	12					0	0	0.003080	0	0
PAMR1	25891	broad.mit.edu	37	11	35456238	35456238	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:35456238C>T	ENST00000378880.2	-	10	1893	c.1448G>A	c.(1447-1449)gGa>gAa	p.G483E	PAMR1_ENST00000278360.3_Missense_Mutation_p.G500E|PAMR1_ENST00000378878.3_Missense_Mutation_p.G372E|PAMR1_ENST00000532848.1_Missense_Mutation_p.G443E	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	483	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GAACCACGCTCCCTTGTGTAG	0.607000													32	30					0	0	0.002096	0	0
MDGA2	161357	broad.mit.edu	37	14	47311177	47311177	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:47311177A>T	ENST00000426342.1	-	17	2887	c.2141T>A	c.(2140-2142)tTt>tAt	p.F714Y	MDGA2_ENST00000399222.3_Missense_Mutation_p.F145Y|MDGA2_ENST00000357362.3_Missense_Mutation_p.F714Y|MDGA2_ENST00000439988.2_Missense_Mutation_p.F943Y|MDGA2_ENST00000399232.2_Missense_Mutation_p.F1012Y	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	943					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GATAATGGGAAAAAGCCATAT	0.388000													22	42					0	0	0.004656	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553608	140553608	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140553608G>A	ENST00000231137.3	+	1	1366	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		398	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E398K(1)		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)			GCCATCTGTCGAAAACTTCTA	0.493000													28	32					0	0	0.005443	0	0
PKD1L2	114780	broad.mit.edu	37	16	81180978	81180978	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:81180978C>T	ENST00000533478.1	-	0	3168				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AACACCTGCCCTGATGTGTTC	0.522000													80	62					0	0	0.003610	0	0
MEOX2	4223	broad.mit.edu	37	7	15652161	15652161	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:15652161C>T	ENST00000262041.5	-	3	1175	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	256					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		AGTTCCTTTTCCCGAGCCGCA	0.507000													54	96					0	0	0.003610	0	0
SF1	7536	broad.mit.edu	37	11	64534462	64534462	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:64534462G>A	ENST00000377390.3	-	12	1829	c.1492C>T	c.(1492-1494)Ccc>Tcc	p.P498S	SF1_ENST00000377387.1_Missense_Mutation_p.P623S|SF1_ENST00000334944.5_Missense_Mutation_p.P498S|SF1_ENST00000227503.9_Missense_Mutation_p.P498S|SF1_ENST00000377394.3_Missense_Mutation_p.S499F|SF1_ENST00000433274.2_Missense_Mutation_p.P472S|SF1_ENST00000422298.2_Missense_Mutation_p.P383S	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	498	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGCCATGGGGGAAGAGGACCA	0.662000													37	26					0	0	0.004878	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533826	156533826	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:156533826C>T	ENST00000307851.4	-	2	936	c.206G>A	c.(205-207)aGg>aAg	p.R69K	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Missense_Mutation_p.R69K|HAVCR2_ENST00000517358.1_5'UTR	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	69	Ig-like V-type.					integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCATCAGTCCTGAGCACCAC	0.537000													301	317					0	0	0.003610	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701699	96701699	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:96701699G>A	ENST00000260682.6	+	2	265	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	85					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGCAGTGAAGGAAGCCCTGAT	0.473000													82	92					0	0	0.003610	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15880842	15880842	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:15880842C>T	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							TCTGAGACTCCCGAGTCTCAC	0.478000													7	5					0	0	0.001984	0	0
LONRF3	79836	broad.mit.edu	37	X	118151559	118151559	+	Missense_Mutation	SNP	G	G	A	rs143959775		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:118151559G>A	ENST00000365713.2	+	10	2226	c.2063G>A	c.(2062-2064)cGa>cAa	p.R688Q	LONRF3_ENST00000304778.7_Missense_Mutation_p.R688Q|LONRF3_ENST00000422289.2_Missense_Mutation_p.R473Q|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.R729Q			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	729	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TTGGAAAGCCGAGCTCAGCTC	0.502000													61	73					0	0	0.003610	0	0
OR1C1	26188	broad.mit.edu	37	1	247921673	247921673	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:247921673G>A	ENST00000408896.2	-	1	309	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CCAGAAGGACGAATTCCCTGA	0.408000													18	39					0	0	0.007413	0	0
VANGL1	81839	broad.mit.edu	37	1	116225035	116225035	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:116225035C>T	ENST00000355485.2	+	5	1134	c.863C>T	c.(862-864)aCc>aTc	p.T288I	VANGL1_ENST00000474344.1_3'UTR|VANGL1_ENST00000310260.3_Missense_Mutation_p.T288I|VANGL1_ENST00000369509.1_Missense_Mutation_p.T288I|VANGL1_ENST00000369510.3_Missense_Mutation_p.T286I	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	288					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AAAGATTTCACCATCTATAAC	0.418000													62	4					0	0	0.003610	0	0
UMODL1	89766	broad.mit.edu	37	21	43547300	43547300	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:43547300A>G	ENST00000400427.1	+	18	4042	c.3646A>G	c.(3646-3648)Acc>Gcc	p.T1216A	UMODL1_ENST00000408989.2_Missense_Mutation_p.T1288A|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408910.2_Missense_Mutation_p.T1160A|UMODL1_ENST00000400424.1_Missense_Mutation_p.T1088A	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1160	ZP.					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						GTGCTGGGCAACCCCGTCTAG	0.572000													27	19					0	0	0.003954	0	0
CCDC141	285025	broad.mit.edu	37	2	179732790	179732790	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179732790G>A	ENST00000420890.2	-	16	2654	c.2537C>T	c.(2536-2538)tCc>tTc	p.S846F	CCDC141_ENST00000295723.5_Missense_Mutation_p.S271F	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	271	Ig-like.						protein binding	p.S846F(1)|p.S271F(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GACTCCTAAGGAAAGGGCCAG	0.512000													31	29					0	0	0.003755	0	0
COL5A3	50509	broad.mit.edu	37	19	10116815	10116815	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:10116815C>T	ENST00000264828.3	-	2	266	c.181G>A	c.(181-183)Ggt>Agt	p.G61S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	61	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCCGGTCACCCTCTGGAGTC	0.652000													15	8					0	0	0.004007	0	0
ARMC4	55130	broad.mit.edu	37	10	28196667	28196667	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:28196667G>A	ENST00000305242.5	-	17	2627	c.2535C>T	c.(2533-2535)tcC>tcT	p.S845S	ARMC4_ENST00000545014.1_Silent_p.S370S|ARMC4_ENST00000537576.1_Silent_p.S537S	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	845							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTTTCAGCAGGGACCACAACA	0.433000													21	26					0	0	0.004656	0	0
RHPN1	114822	broad.mit.edu	37	8	144463858	144463858	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:144463858C>T	ENST00000289013.6	+	13	1706	c.1605C>T	c.(1603-1605)atC>atT	p.I535I		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	560					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CTGTCCTCATCGCTGCCGTCA	0.701000													5	9					0	0	0.001168	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914416	147914416	+	Missense_Mutation	SNP	G	G	A	rs143879959		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:147914416G>A	ENST00000361727.3	+	19	3563	c.3047G>A	c.(3046-3048)cGa>cAa	p.R1016Q	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.R75Q	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1016					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R1016Q(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATGTGGCTACGATATAACTTT	0.488000										HNSCC(39;0.1)			38	96					0	0	0.004289	0	0
MAPK4	5596	broad.mit.edu	37	18	48190460	48190460	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:48190460G>A	ENST00000400384.2	+	2	1168	c.132G>A	c.(130-132)cgG>cgA	p.R44R	MAPK4_ENST00000592595.1_Silent_p.R44R|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Silent_p.R44R	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	44	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGGCCTGCCGGAAGGTCGCTG	0.602000													31	40					0	0	0.003271	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160804493	160804493	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:160804493G>A	ENST00000392781.2	-	8	797	c.50C>T	c.(49-51)tCc>tTc	p.S17F	B3GALNT1_ENST00000392779.2_Missense_Mutation_p.S17F|B3GALNT1_ENST00000417187.1_Missense_Mutation_p.S17F|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.S17F|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.S17F|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.S17F|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.S17F	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	17					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			CCATTTGAGGGATCTCAGTGA	0.527000													15	16					0	0	0.002450	0	0
FAM183B	340286	broad.mit.edu	37	7	38725482	38725482	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:38725482G>A	ENST00000409072.3	-	2	1058	c.124C>T	c.(124-126)Ctg>Ttg	p.L42L						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						ACCTTGCGCAGGGGATTCACA	0.522000													32	75					0	0	0.002445	0	0
VPS13D	55187	broad.mit.edu	37	1	12371954	12371954	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:12371954A>G	ENST00000358136.3	+	29	7037	c.6907A>G	c.(6907-6909)Aga>Gga	p.R2303G	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2303G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2303					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)		AGATCCAAAAAGAAAAGAAGG	0.378000													27	31					0	0	0.006320	0	0
FGF5	2250	broad.mit.edu	37	4	81207563	81207563	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:81207563G>A	ENST00000312465.7	+	3	770	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	182					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						ACATAGAACTGAAAAAACAGG	0.458000													60	80					0	0	0.003610	0	0
JMJD1C	221037	broad.mit.edu	37	10	64973570	64973570	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:64973570G>A	ENST00000399262.2	-	8	2575	c.2357C>T	c.(2356-2358)cCa>cTa	p.P786L	JMJD1C_ENST00000542921.1_Missense_Mutation_p.P604L|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P567L|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P567L	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	786					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGCATGGTGTGGACCACTAGT	0.498000													16	10					0	0	0.004007	0	0
HSD11B2	3291	broad.mit.edu	37	16	67470517	67470517	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:67470517G>A	ENST00000326152.5	+	5	961	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K		NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	277					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	GGGTCAGTGGGAAAAGCGCAA	0.567000													17	19					0	0	0.006122	0	0
SIPA1	6494	broad.mit.edu	37	11	65408595	65408595	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:65408595C>T	ENST00000394224.3	+	2	499	c.203C>T	c.(202-204)cCc>cTc	p.P68L	SIPA1_ENST00000534313.1_Missense_Mutation_p.P68L|SIPA1_ENST00000527525.1_Missense_Mutation_p.P68L|SIPA1_ENST00000394227.3_Missense_Mutation_p.P68L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	68					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CCAGCCAGCCCCCGTGCCCGT	0.731000													14	12					0	0	0.002450	0	0
FREM1	158326	broad.mit.edu	37	9	14859410	14859410	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:14859410G>A	ENST00000380881.4	-	5	1217	c.402C>T	c.(400-402)atC>atT	p.I134I	FREM1_ENST00000422223.2_Silent_p.I134I|FREM1_ENST00000380880.3_Silent_p.I134I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	134					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCATATGGATGATGTTACAGT	0.408000													64	95					0	0	0.003610	0	0
NPAP1	23742	broad.mit.edu	37	15	24923385	24923385	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:24923385G>A	ENST00000329468.2	+	1	2845	c.2371G>A	c.(2371-2373)Gat>Aat	p.D791N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CAGTGCCCATGATTTCCTGAG	0.537000													69	77					0	0	0.003610	0	0
SLC12A6	9990	broad.mit.edu	37	15	34536215	34536215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:34536215G>A	ENST00000354181.3	-	16	2494	c.2002C>T	c.(2002-2004)Cga>Tga	p.R668*	SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.R653*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.R617*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.R659*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.R668*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.R668*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.R480*|SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.R609*|SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.R480*|SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.R609*			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	668					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TTGGGTGTTCGAAGTAATGTT	0.393000													53	49					0	0	0.003610	0	0
MAP7	9053	broad.mit.edu	37	6	136683601	136683601	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:136683601C>T	ENST00000354570.3	-	11	1923	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	MAP7_ENST00000544465.1_Missense_Mutation_p.E490K|MAP7_ENST00000454590.1_Missense_Mutation_p.E527K|MAP7_ENST00000438100.2_Missense_Mutation_p.E490K|MAP7_ENST00000432797.2_Missense_Mutation_p.E359K	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	505					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCAAGCTCTTCCTGCTCCCTC	0.532000													63	11					0	0	0.003610	0	0
S100A8	6279	broad.mit.edu	37	1	153362684	153362684	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:153362684A>C	ENST00000368733.3	-	3	346	c.177T>G	c.(175-177)gaT>gaG	p.D59E	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.D59E	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	59	EF-hand 2.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGTGTTGATATCCAACTCTT	0.463000													45	182					0	0	0.003610	0	0
STRN	6801	broad.mit.edu	37	2	37111159	37111159	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:37111159G>A	ENST00000263918.4	-	9	1110	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	STRN_ENST00000379213.2_Missense_Mutation_p.P319S	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	368					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGCAATGAAGGAAGTTCATCA	0.433000													19	34					0	0	0.008871	0	0
HCLS1	3059	broad.mit.edu	37	3	121350950	121350950	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:121350950C>T	ENST00000314583.3	-	13	1413	c.1322G>A	c.(1321-1323)gGa>gAa	p.G441E	HCLS1_ENST00000428394.2_Missense_Mutation_p.G404E|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	441	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CAACCTACCTCCTTGGTAATC	0.537000													30	66					0	0	0.003755	0	0
OGT	8473	broad.mit.edu	37	X	70784462	70784462	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:70784462G>A	ENST00000373719.3	+	19	2665	c.2448G>A	c.(2446-2448)aaG>aaA	p.K816K	OGT_ENST00000373701.3_Silent_p.K806K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	816					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TCAACAATAAGGCTGCAACTG	0.373000													11	23					0	0	0.001855	0	0
MYOM2	9172	broad.mit.edu	37	8	1998971	1998971	+	Missense_Mutation	SNP	G	G	A	rs148337899		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:1998971G>A	ENST00000262113.4	+	2	232	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	31					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTGCTGGACGAATATGCGTC	0.493000													16	16					0	0	0.004990	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551180	100551180	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:100551180C>T	ENST00000397112.4	-	0	1893					NR_036632.1															large_intestine(1)|lung(3)	4						CAACCCTCTCCTTCAAGTCCA	0.552000													36	65					0	0	0.006999	0	0
TTN	7273	broad.mit.edu	37	2	179393070	179393070	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179393070C>T	ENST00000589042.1	-	361	107532	c.107308G>A	c.(107308-107310)Gga>Aga	p.G35770R	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G33202R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G34129R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G26897R|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G26705R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G26830R|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585625.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34129							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)			GTGTACTTTCCACTGTCGCTG	0.413000													31	30					0	0	0.002445	0	0
S100A8	6279	broad.mit.edu	37	1	153362683	153362683	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:153362683T>G	ENST00000368733.3	-	3	347	c.178A>C	c.(178-180)Atc>Ctc	p.I60L	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.I60L	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	60	EF-hand 2.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGTGTTGATATCCAACTCT	0.463000													44	182					0	0	0.003610	0	0
PHC3	80012	broad.mit.edu	37	3	169854299	169854299	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:169854299G>A	ENST00000494943.1	-	7	859	c.791C>T	c.(790-792)cCa>cTa	p.P264L	PHC3_ENST00000495893.1_Missense_Mutation_p.P276L|PHC3_ENST00000467570.1_Missense_Mutation_p.P223L			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	264	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATTACTTTCTGGAGAAGGATC	0.433000													28	25					0	0	0.005443	0	0
DSCAM	1826	broad.mit.edu	37	21	41684095	41684095	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:41684095G>A	ENST00000400454.1	-	9	2452	c.1975C>T	c.(1975-1977)Ctc>Ttc	p.L659F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	659	Ig-like C2-type 7.				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)				ATGAGCGAGAGATTGGAAATC	0.537000													45	34					0	0	0.003214	0	0
SSPO	23145	broad.mit.edu	37	7	149474858	149474858	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:149474858C>T	ENST00000378016.2	+	0	657							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGCACCTACCTGCTGGCGG	0.682000													8	6					0	0	0.004482	0	0
TACC2	10579	broad.mit.edu	37	10	123842253	123842253	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:123842253C>T	ENST00000369005.1	+	4	578	c.238C>T	c.(238-240)Cca>Tca	p.P80S	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.P80S|TACC2_ENST00000515273.1_Missense_Mutation_p.P80S|TACC2_ENST00000453444.2_Missense_Mutation_p.P80S|TACC2_ENST00000334433.3_Missense_Mutation_p.P80S|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	80						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGTGACTGAGCCAAGGAAGGA	0.612000													34	42					0	0	0.002445	0	0
GRXCR1	389207	broad.mit.edu	37	4	42964963	42964963	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:42964963C>T	ENST00000399770.2	+	2	439	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	147	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CACCTGCCTTCGTGTGGTCCG	0.388000													54	48					0	0	0.003610	0	0
NXPE3	91775	broad.mit.edu	37	3	101540558	101540558	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:101540558C>T	ENST00000422132.1	+	5	1637	c.1440C>T	c.(1438-1440)gtC>gtT	p.V480V	NXPE3_ENST00000477909.1_Silent_p.V480V|NXPE3_ENST00000273347.5_Silent_p.V480V|NXPE3_ENST00000491511.1_Silent_p.V480V					neurexophilin and PC-esterase domain family, member 3																		CCGTGGTGGTCATCCGGACGG	0.572000													40	56					0	0	0.008740	0	0
DHX15	1665	broad.mit.edu	37	4	24543617	24543617	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:24543617G>A	ENST00000336812.4	-	8	1520	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	455	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CACCAAAAGGGACTCAACTCT	0.418000													26	22					0	0	0.007291	0	0
MIR134	406924	broad.mit.edu	37	14	101521023	101521023	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:101521023C>T	ENST00000385258.2	+	0	16					NR_029698.1																						TCAGCACCGTCCAGGGTGTGT	0.582000													12	15					0	0	0.006122	0	0
MYH15	22989	broad.mit.edu	37	3	108159925	108159925	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:108159925G>A	ENST00000273353.3	-	24	2954	c.2898C>T	c.(2896-2898)atC>atT	p.I966I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	966						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCAGGTCATCGATTTCTTTCT	0.458000													70	79					0	0	0.003610	0	0
DIAPH2	1730	broad.mit.edu	37	X	96502837	96502837	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:96502837C>T	ENST00000373061.3	+	23	3239	c.2843C>T	c.(2842-2844)aCc>aTc	p.T948I	DIAPH2_ENST00000373054.4_Missense_Mutation_p.T944I|DIAPH2_ENST00000373049.4_Splice_Site_p.T948_splice|DIAPH2_ENST00000324765.8_Splice_Site_p.T948_splice|DIAPH2_ENST00000355827.4_Missense_Mutation_p.T948I	NM_006729.4	NP_006720.1	O60879	DIAP2_HUMAN	diaphanous-related formin 2	948	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GAAAAGATGACCATATCCTTT	0.343000													33	33					0	0	0.004289	0	0
DSP	1832	broad.mit.edu	37	6	7585490	7585490	+	Silent	SNP	G	G	A	rs35379048	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:7585490G>A	ENST00000379802.3	+	24	8336	c.7995G>A	c.(7993-7995)acG>acA	p.T2665T	DSP_ENST00000418664.2_Silent_p.T2066T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2665	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.T2665T(2)		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)		ACCCAACCACGGGCCAGAAGC	0.577000													57	104					0	0	0.003610	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291185	5291185	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:5291185G>A	ENST00000357006.4	-	4	1360	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	ZBTB14_ENST00000400143.3_Missense_Mutation_p.S341L	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		ACGGATAAATGATTTTCCACA	0.443000													44	40					0	0	0.009718	0	0
DSG3	1830	broad.mit.edu	37	18	29056114	29056114	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:29056114G>A	ENST00000257189.4	+	16	2974	c.2891G>A	c.(2890-2892)aGg>aAg	p.R964K		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	964					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTGACAGAAAGGGTGATCTGT	0.502000													36	58					0	0	0.004878	0	0
CSF1R	1436	broad.mit.edu	37	5	149457749	149457749	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:149457749C>G	ENST00000286301.3	-	5	946	c.655G>C	c.(655-657)Gct>Cct	p.A219P	CSF1R_ENST00000543093.1_Missense_Mutation_p.A219P	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	219	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	ATCTGGGCAGCCTCCCCTCGA	0.592000													38	42					0	0	0.003755	0	0
ZNF474	133923	broad.mit.edu	37	5	121487967	121487967	+	Silent	SNP	C	C	T	rs144735279	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:121487967C>T	ENST00000296600.4	+	2	665	c.282C>T	c.(280-282)ttC>ttT	p.F94F	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	94						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GGCCTGGATTCCGGGTATGCT	0.498000													58	54					0	0	0.003610	0	0
OR5P2	120065	broad.mit.edu	37	11	7818403	7818403	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:7818403G>A	ENST00000329434.2	-	1	117	c.87C>T	c.(85-87)atC>atT	p.I29I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCATGAAGAGGATGACTCGAA	0.433000													10	10					0	0	0.008291	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112308966	112308966	+	Silent	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:112308966T>C	ENST00000550735.2	+	7	1317	c.561T>C	c.(559-561)ccT>ccC	p.P187P	MAPKAPK5_ENST00000551404.2_Silent_p.P187P	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	187	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						AGTTCACCCCTTATTATGTAG	0.448000													43	54					0	0	0.003610	0	0
FLNC	2318	broad.mit.edu	37	7	128489238	128489238	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:128489238C>T	ENST00000325888.8	+	29	5192	c.4931C>T	c.(4930-4932)tCc>tTc	p.S1644F	FLNC_ENST00000346177.6_Missense_Mutation_p.S1644F	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1644					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTTCCAGTGTCCATTGGAGGC	0.662000													11	31					0	0	0.001855	0	0
VCAN	1462	broad.mit.edu	37	5	82786188	82786188	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:82786188C>T	ENST00000265077.3	+	3	907	c.342C>T	c.(340-342)tcC>tcT	p.S114S	VCAN_ENST00000343200.5_Silent_p.S114S|VCAN_ENST00000512590.2_Silent_p.S66S|VCAN_ENST00000502527.2_Silent_p.S114S|VCAN_ENST00000513984.1_Silent_p.S114S|VCAN_ENST00000342785.4_Silent_p.S114S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	114	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCGATGCCTCCCTCACTGTGG	0.537000													49	40					0	0	0.003610	0	0
ATP9B	374868	broad.mit.edu	37	18	77137262	77137262	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:77137262C>T	ENST00000426216.2	+	30	3340	c.3323C>T	c.(3322-3324)aCc>aTc	p.T1108I	ATP9B_ENST00000543761.1_Missense_Mutation_p.T418I|ATP9B_ENST00000307671.7_Missense_Mutation_p.T1097I	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1108					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GCCTTTATCACCACCGTGACC	0.577000													41	57					0	0	0.003610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995230	140995230	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:140995230G>A	ENST00000285879.4	+	4	2326	c.2040G>A	c.(2038-2040)gaG>gaA	p.E680E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	680							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGTCCTGAGAGTGCTCCTG	0.567000										HNSCC(15;0.026)			88	47					0	0	0.003610	0	0
NLGN4X	57502	broad.mit.edu	37	X	5950779	5950779	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:5950779T>G	ENST00000381093.2	-	3	948	c.485A>C	c.(484-486)aAg>aCg	p.K162T	NLGN4X_ENST00000381092.1_Intron|NLGN4X_ENST00000275857.6_Intron|NLGN4X_ENST00000538097.1_Intron|NLGN4X_ENST00000381095.3_Intron			Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	157					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGCGTTTTTCTTTGTGTTGGC	0.353000													18	29					0	0	0.010504	0	0
ITIH5	80760	broad.mit.edu	37	10	7618605	7618605	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:7618605C>T	ENST00000256861.6	-	10	1867	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	ITIH5_ENST00000397146.2_Missense_Mutation_p.E597K|ITIH5_ENST00000397145.2_Missense_Mutation_p.E597K|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.E383K|ITIH5_ENST00000446830.2_Missense_Mutation_p.E379K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	597					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGCTCCTTCTCCGGTTCATCG	0.637000													13	25					0	0	0.002299	0	0
GRIP1	23426	broad.mit.edu	37	12	66771023	66771023	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:66771023C>T	ENST00000359742.4	-	21	2904	c.2664G>A	c.(2662-2664)gaG>gaA	p.E888E	GRIP1_ENST00000286445.7_Silent_p.E888E|GRIP1_ENST00000398016.3_Silent_p.E836E			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	888					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ACCAGAAGTTCTCCTCTTGTT	0.458000													76	91					0	0	0.003610	0	0
VPS16	64601	broad.mit.edu	37	20	2846048	2846048	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:2846048C>T	ENST00000380445.3	+	22	2250	c.2178C>T	c.(2176-2178)ctC>ctT	p.L726L	VPS16_ENST00000380443.3_Silent_p.L412L|PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380469.3_Silent_p.L582L	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	726					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCTGCAGGCTCTGGTGGCTGA	0.572000													12	18					0	0	0.002450	0	0
WWC3	55841	broad.mit.edu	37	X	10084537	10084537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:10084537C>T	ENST00000380861.4	+	10	1445	c.1054C>T	c.(1054-1056)Cag>Tag	p.Q352*	WWC3_ENST00000454666.1_Nonsense_Mutation_p.Q352*	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	352	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCTCCAGTCCCAGTTAAAAAG	0.418000													54	67					0	0	0.003610	0	0
DDC	1644	broad.mit.edu	37	7	50531072	50531072	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:50531072G>A	ENST00000444124.2	-	14	1500	c.1300C>T	c.(1300-1302)Cac>Tac	p.H434Y	DDC_ENST00000431062.1_Missense_Mutation_p.H341Y|DDC_ENST00000426377.1_Missense_Mutation_p.H356Y|DDC_ENST00000357936.5_Missense_Mutation_p.H434Y	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	434					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GGAACCAAGTGGATTTTTTTG	0.502000													51	40					0	0	0.003610	0	0
CUL9	23113	broad.mit.edu	37	6	43173928	43173928	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:43173928C>T	ENST00000252050.4	+	25	5061	c.4977C>T	c.(4975-4977)ttC>ttT	p.F1659F	CUL9_ENST00000372647.2_Silent_p.F1659F|CUL9_ENST00000354495.3_Silent_p.F1549F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1659					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACAAGTTGTTCTTggagcagg	0.567000													11	13					0	0	0.008291	0	0
COL6A6	131873	broad.mit.edu	37	3	130283963	130283963	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:130283963G>A	ENST00000358511.6	+	3	818	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	COL6A6_ENST00000453409.2_Missense_Mutation_p.E263K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	263	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGACATAAAGGAAAATTGCAT	0.393000													68	99					0	0	0.003610	0	0
DLG3	1741	broad.mit.edu	37	X	69669618	69669618	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:69669618G>A	ENST00000194900.4	+	5	1007	c.666G>A	c.(664-666)aaG>aaA	p.K222K	DLG3_ENST00000374360.3_Silent_p.K204K			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	204					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AGGCGCTGAAGGAGGCAGGCC	0.657000													12	12					0	0	0.002450	0	0
CA9	768	broad.mit.edu	37	9	35675809	35675809	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:35675809C>T	ENST00000378357.4	+	3	589	c.485C>T	c.(484-486)tCc>tTc	p.S162F		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	162	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGCTTCCAGTCCCCGGTGGAT	0.711000													7	12					0	0	0.003080	0	0
GSE1	23199	broad.mit.edu	37	16	85704609	85704609	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:85704609C>T	ENST00000253458.7	+	15	3600	c.3424C>T	c.(3424-3426)Ctg>Ttg	p.L1142L	GSE1_ENST00000405402.2_Silent_p.L1038L|GSE1_ENST00000393243.1_Silent_p.L1069L	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		AGAGCAAAATCTGGAGCGGCA	0.582000													36	40					0	0	0.004878	0	0
RPA4	29935	broad.mit.edu	37	X	96139537	96139537	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:96139537C>T	ENST00000373040.3	+	1	631	c.228C>T	c.(226-228)atC>atT	p.I76I	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	76					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						AGGTCTCCATCGTGGGGGTAA	0.468000								Other identified genes with known or suspected DNA repair function					11	17					0	0	0.008291	0	0
TBX20	57057	broad.mit.edu	37	7	35242183	35242183	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:35242183G>A	ENST00000408931.3	-	8	1729	c.1203C>T	c.(1201-1203)gcC>gcT	p.A401A		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	401						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGCTGGCAATGGCCGATGGTG	0.557000													26	16					0	0	0.004656	0	0
ALDH1B1	219	broad.mit.edu	37	9	38397029	38397029	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:38397029G>C	ENST00000377698.3	+	2	1437	c.1284G>C	c.(1282-1284)aaG>aaC	p.K428N		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	428					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TCAAGTTCAAGAAGATTGAGG	0.537000													15	14					0	0	0.002450	0	0
DNAH5	1767	broad.mit.edu	37	5	13901544	13901544	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:13901544G>A	ENST00000265104.4	-	14	1973	c.1869C>T	c.(1867-1869)atC>atT	p.I623I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	623	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTTCCAGCGATGGGAGGCT	0.502000									Kartagener syndrome				10	15					0	0	0.008291	0	0
NOL4	8715	broad.mit.edu	37	18	31803000	31803000	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:31803000C>T	ENST00000261592.5	-	1	515	c.218G>A	c.(217-219)gGa>gAa	p.G73E	RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.G73E	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	73						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCCGCCGCCTCCCCCGCGGAC	0.622000													20	26					0	0	0.008871	0	0
RNF19A	25897	broad.mit.edu	37	8	101300206	101300206	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:101300206G>A	ENST00000519449.1	-	3	513	c.197C>T	c.(196-198)tCa>tTa	p.S66L	RNF19A_ENST00000341084.2_Missense_Mutation_p.S66L	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	66					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GGAGCCTATTGAAATTCTTCT	0.413000													48	50					0	0	0.003610	0	0
SLC9A5	6553	broad.mit.edu	37	16	67289375	67289375	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:67289375G>A	ENST00000299798.11	+	4	798		c.e4+1		SLC9A5_ENST00000561472.2_Splice_Site	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5						regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AAGGGAGTCGGTCAGTATTTC	0.592000													23	22					0	0	0.002780	0	0
ZNF197	10168	broad.mit.edu	37	3	44685209	44685209	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:44685209G>A	ENST00000396058.1	+	5	2754	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.E863K|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	863					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AAACCTGATTGAACATCAAAG	0.408000													46	40					0	0	0.002852	0	0
ORM1	5004	broad.mit.edu	37	9	117085966	117085966	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:117085966C>T	ENST00000538816.1	+	1	590	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	ORM1_ENST00000259396.8_Silent_p.I46I			P02763	A1AG1_HUMAN	orosomucoid 1	0					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	GGTTTTATATCGCATCGGCCT	0.507000													28	37					0	0	0.008740	0	0
IL32	9235	broad.mit.edu	37	16	3117463	3117463	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:3117463C>T	ENST00000534507.1	+	3	312	c.101C>T	c.(100-102)tCa>tTa	p.S34L	IL32_ENST00000396890.2_Missense_Mutation_p.S34L|IL32_ENST00000531965.1_Intron|IL32_ENST00000444393.3_Intron|IL32_ENST00000529550.1_Intron|IL32_ENST00000552356.1_Intron|IL32_ENST00000440815.3_Intron|IL32_ENST00000525643.2_Intron|IL32_ENST00000548246.1_Intron|IL32_ENST00000552936.1_Missense_Mutation_p.S12L|IL32_ENST00000551513.1_Missense_Mutation_p.S34L|IL32_ENST00000551122.1_Intron|IL32_ENST00000548652.1_Intron|IL32_ENST00000008180.9_Intron|IL32_ENST00000548476.1_Missense_Mutation_p.S34L|IL32_ENST00000529699.1_Intron|IL32_ENST00000549213.1_Intron|IL32_ENST00000396887.3_Intron|IL32_ENST00000552664.1_Intron|IL32_ENST00000533097.2_Intron|IL32_ENST00000530538.2_Intron|IL32_ENST00000530890.1_Intron|IL32_ENST00000526464.2_Intron|IL32_ENST00000382213.3_Intron|IL32_ENST00000528163.2_Intron|IL32_ENST00000325568.5_Intron			P24001	IL32_HUMAN	interleukin 32	34					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GCCTGGGTCTCAGCGTGTGAC	0.592000													36	45					0	0	0.004289	0	0
NBPF9	400818	broad.mit.edu	37	1	144815953	144815953	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:144815953A>G	ENST00000440491.2	+	4	550	c.550A>G	c.(550-552)Aat>Gat	p.N184D	NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.N184D	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9									p.N184D(2)		NS(2)|prostate(1)	3						CAACGATGACAATGAAGATGT	0.423000													7	15					0	0	0.004482	0	0
OR7A10	390892	broad.mit.edu	37	19	14952516	14952516	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:14952516G>A	ENST00000248058.1	-	1	173	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AGAAGTACATGGGGGTGTGGA	0.522000													19	42					0	0	0.001882	0	0
PRSS38	339501	broad.mit.edu	37	1	228003849	228003849	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:228003849G>A	ENST00000366757.3	+	2	231	c.207G>A	c.(205-207)agG>agA	p.R69R		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGCCCGAGAGGAAGTGGCCGT	0.667000													145	6					0	0	0.003610	0	0
ARID5B	84159	broad.mit.edu	37	10	63852113	63852113	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:63852113G>T	ENST00000279873.7	+	10	3301	c.2891G>T	c.(2890-2892)gGc>gTc	p.G964V	ARID5B_ENST00000309334.5_Missense_Mutation_p.G721V	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	964					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACCATGTCAGGCCCTAAAAAA	0.522000													52	41					1.32667e-27	2.35078e-27	0.003610	1	0
RPSA	3921	broad.mit.edu	37	3	39449166	39449166	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:39449166C>T	ENST00000301821.6	+	2	131	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	RPSA_ENST00000443003.1_Silent_p.L8L	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	8					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ccttgatgtcctgcaaatgaa	0.423000													15	24					0	0	0.002450	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854664	79854664	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:79854664C>T	ENST00000338682.3	-	5	1847	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	392						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CTTTTTCTTTCCTATAAGTGC	0.473000													21	28					0	0	0.010504	0	0
BAZ1B	9031	broad.mit.edu	37	7	72861688	72861688	+	Silent	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:72861688A>T	ENST00000339594.4	-	16	4088	c.3750T>A	c.(3748-3750)gcT>gcA	p.A1250A	BAZ1B_ENST00000404251.1_Silent_p.A1250A	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1250					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGTCCTCAGAAGCAGACTCTT	0.458000													65	34					0	0	0.003610	0	0
SCCPDH	51097	broad.mit.edu	37	1	246903475	246903475	+	Splice_Site	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:246903475T>A	ENST00000366510.3	+	4	762	c.384_splice	c.e4-1	p.F129_splice		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	129						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		ATTTTTTAGTTTCTGGAACTA	0.343000													105	2					0	0	0.003610	0	0
DYDC2	84332	broad.mit.edu	37	10	82122713	82122713	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:82122713G>A	ENST00000372199.1	+	5	752	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	DYDC2_ENST00000372197.1_Missense_Mutation_p.E52K|DYDC2_ENST00000372198.1_Missense_Mutation_p.E66K|DYDC2_ENST00000256039.2_Missense_Mutation_p.E52K|DYDC2_ENST00000444807.2_Missense_Mutation_p.E52K			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	52							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CCAGAATAGGGAAAAGAAGAT	0.493000													62	90					0	0	0.003610	0	0
WDR44	54521	broad.mit.edu	37	X	117529212	117529212	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:117529212G>A	ENST00000254029.3	+	6	1353	c.957_splice	c.e6-1	p.E320_splice	WDR44_ENST00000371822.5_Splice_Site_p.E295_splice|WDR44_ENST00000371825.3_Splice_Site_p.E320_splice	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	320						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						ATATTTCCAGGAAAATGGAAA	0.348000													18	27					0	0	0.008871	0	0
NRXN1	9378	broad.mit.edu	37	2	50282132	50282132	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:50282132G>A	ENST00000404971.1	-	21	5228	c.3889C>T	c.(3889-3891)Cga>Tga	p.R1297*	NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000342183.5_Intron|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.R1249*|NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.R1249*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.R1257*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1239					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGACCAAGTCGATATGGAATT	0.338000													5	7					0	0	0.001984	0	0
POFUT1	23509	broad.mit.edu	37	20	30803149	30803149	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:30803149C>T	ENST00000375749.3	+	3	386	c.324C>T	c.(322-324)ttC>ttT	p.F108F	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000375730.3_Silent_p.F108F	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	108					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGGAGGATTTCATGGAGAAGC	0.577000													39	51					0	0	0.006999	0	0
FNDC1	84624	broad.mit.edu	37	6	159654123	159654123	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:159654123G>A	ENST00000297267.9	+	11	2779	c.2579G>A	c.(2578-2580)aGg>aAg	p.R860K	FNDC1_ENST00000340366.6_Missense_Mutation_p.R797K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	860						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCACCCCAGGGTTCCCTCT	0.622000													3	0					0	0	0.000602	0	0
ANK1	286	broad.mit.edu	37	8	41554074	41554074	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:41554074C>T	ENST00000396942.1	-	26	2850	c.2767G>A	c.(2767-2769)Ggt>Agt	p.G923S	ANK1_ENST00000396945.1_Missense_Mutation_p.G923S|ANK1_ENST00000265709.8_Missense_Mutation_p.G964S|ANK1_ENST00000289734.7_Missense_Mutation_p.G923S|ANK1_ENST00000352337.4_Missense_Mutation_p.G923S|ANK1_ENST00000379758.2_Missense_Mutation_p.G923S|ANK1_ENST00000347528.4_Missense_Mutation_p.G923S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	923	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ATGGAACCACCCCGGGCGTCA	0.647000													15	11					0	0	0.004007	0	0
FRAS1	80144	broad.mit.edu	37	4	79295332	79295332	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:79295332C>T	ENST00000264895.6	+	25	3518	c.3078C>T	c.(3076-3078)ctC>ctT	p.L1026L	FRAS1_ENST00000325942.6_Silent_p.L1026L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1025					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGCCATTTCTCCTCTTGGAAG	0.493000													55	53					0	0	0.003610	0	0
UGT2B11	10720	broad.mit.edu	37	4	70070152	70070152	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:70070152G>A	ENST00000446444.1	-	5	1314	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	436					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ACTCACAAAGGATCATTAATT	0.403000													42	64					0	0	0.003610	0	0
ZNF516	9658	broad.mit.edu	37	18	74090987	74090987	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:74090987G>A	ENST00000443185.2	-	4	3400	c.3083C>T	c.(3082-3084)gCc>gTc	p.A1028V	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1028					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCCGGGCTGGGCCTGCAAGGC	0.701000													30	17					0	0	0.007291	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139554	142139554	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:142139554G>A	ENST00000390374.3	-	0	115																											GGGAGACTGGGAGACTCCAGC	0.478000													43	22					0	0	0.003610	0	0
CD28	940	broad.mit.edu	37	2	204594400	204594400	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:204594400C>T	ENST00000374481.3	+	4	409	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	CD28_ENST00000374478.4_Missense_Mutation_p.P28S|CD28_ENST00000458610.2_Missense_Mutation_p.P161S|CD28_ENST00000324106.7_Missense_Mutation_p.P147S			P10747	CD28_HUMAN	CD28 molecule	147	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TCCCCTATTTCCCGGACCTTC	0.438000													50	57					0	0	0.003610	0	0
CORIN	10699	broad.mit.edu	37	4	47765593	47765593	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:47765593C>T	ENST00000273857.4	-	4	419	c.420G>A	c.(418-420)atG>atA	p.M140I	CORIN_ENST00000502252.1_Missense_Mutation_p.M73I|CORIN_ENST00000508498.1_Start_Codon_SNP_p.M1I|CORIN_ENST00000505909.1_Missense_Mutation_p.M140I|CORIN_ENST00000504584.1_Missense_Mutation_p.M140I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	140	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GGGTGATGTTCATACAGGCAC	0.418000													54	47					0	0	0.003610	0	0
MECOM	2122	broad.mit.edu	37	3	168819869	168819869	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:168819869C>T	ENST00000464456.1	-	9	3359	c.2159G>A	c.(2158-2160)gGa>gAa	p.G720E	MECOM_ENST00000494292.1_Missense_Mutation_p.G908E|MECOM_ENST00000392736.3_Missense_Mutation_p.G729E|MECOM_ENST00000472280.1_Missense_Mutation_p.G730E|MECOM_ENST00000433243.2_Missense_Mutation_p.G730E|MECOM_ENST00000460814.1_Missense_Mutation_p.G720E|MECOM_ENST00000468789.1_Missense_Mutation_p.G729E|MECOM_ENST00000264674.3_Missense_Mutation_p.G794E	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCGCTCCTTTCCCTTCCGCAG	0.502000													24	25					0	0	0.004656	0	0
DNAH8	1769	broad.mit.edu	37	6	38820989	38820989	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:38820989C>T	ENST00000359357.3	+	39	5202	c.4948C>T	c.(4948-4950)Cct>Tct	p.P1650S	DNAH8_ENST00000441566.1_Missense_Mutation_p.P1650S|DNAH8_ENST00000449981.2_Missense_Mutation_p.P1867S					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						GGCCAAAGGTCCTGTGGAGAT	0.313000													25	56					0	0	0.008361	0	0
C9orf171	389799	broad.mit.edu	37	9	135374155	135374155	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:135374155G>A	ENST00000343036.2	+	3	425	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	C9orf171_ENST00000393216.2_Missense_Mutation_p.R90Q|C9orf171_ENST00000393215.3_Missense_Mutation_p.R90Q	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	126										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTCTACATCCGAGGGCTTGAC	0.577000													10	0					0	0	0.008291	0	0
OR4A5	81318	broad.mit.edu	37	11	51412363	51412363	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:51412363G>A	ENST00000319760.6	-	1	85	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGCCCAGGAGGACAAATTCTG	0.423000													9	18					0	0	0.008291	0	0
DCC	1630	broad.mit.edu	37	18	50912481	50912481	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:50912481G>A	ENST00000442544.2	+	16	3044	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	DCC_ENST00000581580.1_Missense_Mutation_p.E465K|DCC_ENST00000412726.1_Missense_Mutation_p.E658K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	810	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCTCTTTATGAAAGTGCCAC	0.343000													24	41					0	0	0.004656	0	0
BCR	613	broad.mit.edu	37	22	23630295	23630295	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:23630295C>T	ENST00000305877.8	+	12	3289	c.2538C>T	c.(2536-2538)ttC>ttT	p.F846F	BCR_ENST00000359540.3_Silent_p.F846F	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	846	PH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GTTACACGTTCCTGATCTCCT	0.562000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								31	40					0	0	0.003271	0	0
CADM3	57863	broad.mit.edu	37	1	159163743	159163743	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:159163743G>A	ENST00000368125.4	+	5	761	c.604G>A	c.(604-606)Gat>Aat	p.D202N	CADM3_ENST00000368124.4_Missense_Mutation_p.D236N	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	202	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TACCCGGGAGGATGATGGGGC	0.502000													83	3					0	0	0.003610	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190932	39190932	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:39190932G>A	ENST00000344363.5	-	1	175	c.142C>T	c.(142-144)Cct>Tct	p.P48S		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	58			Missing (in allele KAP1.1).			extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GAGAAGCTAGGAAATCCGCAG	0.622000													34	37					0	0	0.003271	0	0
DISC1	27185	broad.mit.edu	37	1	231954091	231954091	+	Missense_Mutation	SNP	G	G	A	rs117884450	by1000genomes	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:231954091G>A	ENST00000539444.1	+	8	1759	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	DISC1_ENST00000602281.1_Silent_p.T603T|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000366633.3_Silent_p.T603T|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000439617.2_Silent_p.T603T|DISC1_ENST00000602873.1_Missense_Mutation_p.G201S|DISC1_ENST00000535983.1_Silent_p.T603T|DISC1_ENST00000366636.4_Silent_p.T603T	NM_001164545.1|NM_001164548.1	NP_001158017.1|NP_001158020.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	569	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATTTCTGGACGGCTAAAGACC	0.478000													35	143					0	0	0.004289	0	0
OR1D2	4991	broad.mit.edu	37	17	2996105	2996105	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:2996105G>A	ENST00000331459.1	-	1	185	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	62					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GGTTGGCCAGGAAGAAGTACA	0.537000													53	90					0	0	0.003610	0	0
ZNF382	84911	broad.mit.edu	37	19	37118187	37118187	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:37118187C>T	ENST00000435416.1	+	3	2880	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	ZNF382_ENST00000292928.2_Missense_Mutation_p.P463L|ZNF382_ENST00000439428.1_Missense_Mutation_p.P462L|ZNF382_ENST00000423582.1_Missense_Mutation_p.P414L			Q96SR6	ZN382_HUMAN	zinc finger protein 382	463	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGGAAAAACCCTATATTTGT	0.453000													21	13					0	0	0.002299	0	0
OR7C2	26658	broad.mit.edu	37	19	15052942	15052942	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:15052942C>T	ENST00000248072.3	+	1	642	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCTGTGGAATCCTATTCTCTT	0.473000													29	41					0	0	0.006320	0	0
ITIH1	3697	broad.mit.edu	37	3	52825909	52825909	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:52825909C>T	ENST00000273283.2	+	22	2742	c.2718C>T	c.(2716-2718)atC>atT	p.I906I	ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000537050.1_Silent_p.I618I|ITIH1_ENST00000540715.1_Silent_p.I764I|ITIH1_ENST00000405128.3_Silent_p.I272I	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	906	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CTGATTATATCGTCCCCGACA	0.597000													9	21					0	0	0.006214	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218812	134218812	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:134218812C>T	ENST00000305233.5	+	2	867	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	PWWP2B_ENST00000368609.4_Missense_Mutation_p.P270S	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	270										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGTCAAGATCCCCTCCCGCGT	0.706000													5	9					0	0	0.001984	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213434904	213434904	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:213434904T>C	ENST00000366960.3	+	13	3065	c.2915T>C	c.(2914-2916)gTt>gCt	p.V972A	RPS6KC1_ENST00000543354.1_3'UTR|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.V960A|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.V760A	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	972	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGGTTAGAGGTTGGAGCAATC	0.403000													428	14					0	0	0.003610	0	0
ITGB4	3691	broad.mit.edu	37	17	73725384	73725384	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:73725384C>T	ENST00000200181.3	+	7	792	c.605C>T	c.(604-606)tCc>tTc	p.S202F	ITGB4_ENST00000449880.2_Missense_Mutation_p.S202F|ITGB4_ENST00000339591.3_Missense_Mutation_p.S202F|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Missense_Mutation_p.S202F|ITGB4_ENST00000450894.3_Missense_Mutation_p.S202F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	202	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCCCCTTCTCCTTCAAGAAC	0.612000													25	28					0	0	0.005443	0	0
SHC4	399694	broad.mit.edu	37	15	49254922	49254922	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:49254922G>A	ENST00000332408.4	-	1	719	c.291C>T	c.(289-291)aaC>aaT	p.N97N		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	97	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AAGTGGCCGGGTTGGCCAGCT	0.617000													38	44					0	0	0.006999	0	0
MYOM3	127294	broad.mit.edu	37	1	24433595	24433595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:24433595G>A	ENST00000330966.7	-	4	535	c.373C>T	c.(373-375)Cag>Tag	p.Q125*	MYOM3_ENST00000329601.7_Nonsense_Mutation_p.Q124*|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Nonsense_Mutation_p.Q124*			Q5VTT5	MYOM3_HUMAN	myomesin 3	124										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCCGCCTCTGGCGCAGCAGC	0.692000													10	0					0	0	0.001368	0	0
EFHC1	114327	broad.mit.edu	37	6	52303121	52303121	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:52303121A>G	ENST00000371068.5	+	3	408	c.305A>G	c.(304-306)tAt>tGt	p.Y102C	EFHC1_ENST00000538167.1_Missense_Mutation_p.Y83C|EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000433625.2_Missense_Mutation_p.Y11C	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	102	DM10 1.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TTTGATGCCTATTTCCAAGAA	0.363000													12	13					0	0	0.001368	0	0
ANO9	338440	broad.mit.edu	37	11	429596	429596	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:429596C>T	ENST00000332826.6	-	11	973	c.889G>A	c.(889-891)Gac>Aac	p.D297N		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	297						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						ACGTACAGGTCCCAGTGCAGG	0.701000													10	12					0	0	0.006214	0	0
SNHG14	104472715	broad.mit.edu	37	15	25336855	25336855	+	RNA	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:25336855T>G	ENST00000546682.1	+	0	958				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						TGGGTGCTGGTGGATCCCACA	0.502000													15	16					0	0	0.003163	0	0
KCNQ4	9132	broad.mit.edu	37	1	41283850	41283850	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:41283850C>T	ENST00000347132.5	+	3	502	c.420C>T	c.(418-420)atC>atT	p.I140I	KCNQ4_ENST00000509682.2_Silent_p.I140I	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	140					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TCGTGATGATCGTGGTTTTCG	0.627000													58	4					0	0	0.003610	0	0
FAM83A	84985	broad.mit.edu	37	8	124219538	124219538	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:124219538C>T	ENST00000518448.1	+	5	2929	c.915C>T	c.(913-915)gtC>gtT	p.V305V	FAM83A_ENST00000546351.1_Silent_p.V249V|FAM83A_ENST00000522648.1_Silent_p.V249V|FAM83A_ENST00000536633.1_Silent_p.V305V|FAM83A_ENST00000318462.6_Silent_p.V305V|FAM83A_ENST00000276699.6_Silent_p.V305V			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	305										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGCGGCTGGTCGCCCCCGTCC	0.692000													9	10					0	0	0.006214	0	0
FANCM	57697	broad.mit.edu	37	14	45633577	45633577	+	Missense_Mutation	SNP	C	C	T	rs146151355		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:45633577C>T	ENST00000267430.5	+	10	1682	c.1597C>T	c.(1597-1599)Cgt>Tgt	p.R533C	FANCM_ENST00000556036.1_Missense_Mutation_p.R533C|FANCM_ENST00000542564.2_Missense_Mutation_p.R507C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	533	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAACAGTTTCGTGACGGTGG	0.363000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				25	28					0	0	0.005443	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29849020	29849020	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:29849020C>T	ENST00000325874.8	+	6	1075	c.846C>T	c.(844-846)aaC>aaT	p.N282N	RAB11FIP4_ENST00000394744.2_Silent_p.N180N	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	282	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				AGAAAATCAACCTGCTCAATG	0.577000													36	53					0	0	0.003610	0	0
HMGB4	127540	broad.mit.edu	37	1	34330057	34330057	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:34330057G>A	ENST00000522796.1	+	4	2170	c.265G>A	c.(265-267)Gat>Aat	p.D89N	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.D89N|HMGB4_ENST00000425537.1_3'UTR			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	89						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGAAAGCGGGATCCCCAGGA	0.517000													81	7					0	0	0.003610	0	0
FUT6	2528	broad.mit.edu	37	19	5832373	5832373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:5832373C>T	ENST00000318336.4	-	3	1400	c.206G>A	c.(205-207)tGg>tAg	p.W69*	FUT6_ENST00000524754.1_Nonsense_Mutation_p.W69*|FUT6_ENST00000592563.1_Nonsense_Mutation_p.W69*|FUT6_ENST00000527106.1_Nonsense_Mutation_p.W69*|FUT6_ENST00000286955.5_Nonsense_Mutation_p.W69*	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	69					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						GTTAAAAGGCCACGTCCACAG	0.602000													15	28					0	0	0.003163	0	0
RP1	6101	broad.mit.edu	37	8	55542052	55542052	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:55542052C>T	ENST00000220676.1	+	4	5758	c.5610C>T	c.(5608-5610)tcC>tcT	p.S1870S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1870					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCACTCATTCCTTTATTTCTG	0.408000													22	30					0	0	0.002299	0	0
IARS	3376	broad.mit.edu	37	9	95043111	95043111	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:95043111A>G	ENST00000375643.3	-	7	928	c.662T>C	c.(661-663)gTt>gCt	p.V221A	IARS_ENST00000443024.2_Missense_Mutation_p.V221A|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.V111A	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	221					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TGTCCAAGCAACTAAAGATAC	0.368000													24	1					0	0	0.003954	0	0
LGALS9	3965	broad.mit.edu	37	17	25974345	25974345	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:25974345C>T	ENST00000395473.2	+	10	2276	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	LGALS9_ENST00000310394.5_Missense_Mutation_p.P226S|LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000302228.5_Missense_Mutation_p.P238S|LGALS9_ENST00000313648.6_Intron	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	270	Galectin 2.			P -> L (in Ref. 1; CAA88922).	positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CCACCTGAACCCCCGTTTTGA	0.572000													14	31					0	0	0.003163	0	0
CD276	80381	broad.mit.edu	37	15	73994903	73994903	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:73994903C>T	ENST00000318443.5	+	3	689	c.387C>T	c.(385-387)ttC>ttT	p.F129F	CD276_ENST00000564751.1_Silent_p.F129F|CD276_ENST00000318424.5_Silent_p.F129F|CD276_ENST00000561213.1_Silent_p.F129F|CD276_ENST00000537340.2_5'UTR	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	129	Ig-like V-type 1.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TCCGGGATTTCGGCAGCGCTG	0.682000													9	13					0	0	0.003163	0	0
GCN1L1	10985	broad.mit.edu	37	12	120575762	120575762	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:120575762G>A	ENST00000300648.6	-	48	6348	c.6336C>T	c.(6334-6336)atC>atT	p.I2112I		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2112					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGCTGGGAGGATCACGCCAA	0.602000													12	15					0	0	0.002450	0	0
SLA	6503	broad.mit.edu	37	8	134057307	134057307	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:134057307G>A	ENST00000338087.5	-	7	1225	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	TG_ENST00000220616.4_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.R176C|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_Missense_Mutation_p.R28C|SLA_ENST00000517648.1_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.R153C	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	136	SH2.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTGGGCAGACGGAAAATGCGG	0.527000													22	18					0	0	0.003330	0	0
ADCY9	115	broad.mit.edu	37	16	4164547	4164547	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:4164547G>A	ENST00000294016.3	-	2	1435	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	299					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGGACATGACGAACAGGTGGA	0.632000													29	20					0	0	0.007291	0	0
TACR3	6870	broad.mit.edu	37	4	104640528	104640528	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:104640528C>T	ENST00000304883.2	-	1	445	c.305G>A	c.(304-306)gGa>gAa	p.G102E		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	102						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GATGAGATTTCCCAAAACTGC	0.597000													27	43					0	0	0.002445	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033575	95033575	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:95033575G>A	ENST00000557004.1	+	3	1339	c.918G>A	c.(916-918)cgG>cgA	p.R306R	SERPINA4_ENST00000298841.5_Silent_p.R306R|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.R306R			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	306					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.R306R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACTTGTTGCGGAAGAGGTAAT	0.438000													15	20					0	0	0.004007	0	0
WDR41	55255	broad.mit.edu	37	5	76754909	76754909	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:76754909G>A	ENST00000296679.4	-	5	764	c.389C>T	c.(388-390)tCa>tTa	p.S130L	WDR41_ENST00000414719.2_5'UTR|WDR41_ENST00000507029.1_Missense_Mutation_p.S75L	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	130										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CTGGAAGCATGATATTCTCTG	0.279000													54	53					0	0	0.003610	0	0
DPF3	8110	broad.mit.edu	37	14	73198523	73198523	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:73198523C>T	ENST00000541685.1	-	4	433	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	DPF3_ENST00000546183.1_Missense_Mutation_p.E151K|DPF3_ENST00000556509.1_Missense_Mutation_p.E141K	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	141					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ACCTGTATTTCCTGGATGCTT	0.592000													9	4					0	0	0.008291	0	0
FAM45B	55855	broad.mit.edu	37	X	129629111	129629111	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:129629111C>T	ENST00000458525.1	-	0	1084				FAM45B_ENST00000592932.1_RNA																							ACCTTTAGAGCTGCGCGCCGC	0.537000													32	16					0	0	0.002096	0	0
KCNK18	338567	broad.mit.edu	37	10	118969431	118969431	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:118969431G>A	ENST00000334549.1	+	3	776	c.776G>A	c.(775-777)gGa>gAa	p.G259E		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	259						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CTGGTGTTGGGAAGACTCTCA	0.517000													37	33					0	0	0.005524	0	0
UPK3A	7380	broad.mit.edu	37	22	45683288	45683288	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:45683288C>T	ENST00000216211.4	+	3	476	c.444C>T	c.(442-444)ttC>ttT	p.F148F	UPK3A_ENST00000396082.2_Intron	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	148					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATCCCAACTTCCAGGGCCTCT	0.607000													5	5					0	0	0.001984	0	0
RTN3	10313	broad.mit.edu	37	11	63486256	63486256	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:63486256C>T	ENST00000377819.5	+	3	436	c.282C>T	c.(280-282)aaC>aaT	p.N94N	RTN3_ENST00000339997.4_Silent_p.N75N|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	94					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAATACATAACACTGGCCTTA	0.383000													16	15					0	0	0.004007	0	0
FAT4	79633	broad.mit.edu	37	4	126412606	126412606	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:126412606G>A	ENST00000394329.3	+	17	14642	c.14629G>A	c.(14629-14631)Gat>Aat	p.D4877N	FAT4_ENST00000335110.5_Missense_Mutation_p.D3118N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4877					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAATGAATCTGATGCAGATGA	0.493000													31	37					0	0	0.003755	0	0
SKOR1	390598	broad.mit.edu	37	15	68125544	68125544	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:68125544G>A	ENST00000380035.2	+	8	2810	c.2752G>A	c.(2752-2754)Gaa>Aaa	p.E918K	SKOR1_ENST00000389002.1_Missense_Mutation_p.E874K|SKOR1_ENST00000554054.1_Missense_Mutation_p.E890K|RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000554240.1_Missense_Mutation_p.E879K|SKOR1_ENST00000341418.5_Missense_Mutation_p.E821K			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	918					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CCTGTGTAACGAACTCGACCA	0.622000													18	24					0	0	0.010504	0	0
ITGAX	3687	broad.mit.edu	37	16	31391891	31391891	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:31391891C>T	ENST00000268296.4	+	28	3343	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F	ITGAX_ENST00000562522.1_Silent_p.F1074F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1074					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						AAATTACGTTCGACACATCCG	0.562000													32	30					0	0	0.003214	0	0
CD207	50489	broad.mit.edu	37	2	71062644	71062644	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:71062644G>A	ENST00000410009.3	-	2	213	c.168C>T	c.(166-168)tcC>tcT	p.S56S		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	56					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GCAGCAGGACGGAGGCGACCA	0.602000													14	12					0	0	0.007413	0	0
SFXN4	119559	broad.mit.edu	37	10	120917536	120917536	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:120917536G>A	ENST00000355697.2	-	7	418	c.399C>T	c.(397-399)tcC>tcT	p.S133S	SFXN4_ENST00000330036.6_Silent_p.S124S|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	133					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GTAAAATCACGGACTTGATCC	0.428000													24	40					0	0	0.005443	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136310129	136310129	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:136310129C>T	ENST00000371929.3	+	20	3010	c.2566C>T	c.(2566-2568)Cct>Tct	p.P856S	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.P825S|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.P856S	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	856	TSP type-1 4.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCTGCCTGCCCCTGAGCCCTG	0.647000													14	1					0	0	0.002450	0	0
SACS	26278	broad.mit.edu	37	13	23907395	23907395	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:23907395G>A	ENST00000382298.3	-	10	11208	c.10620C>T	c.(10618-10620)ttC>ttT	p.F3540F	SACS_ENST00000402364.1_Silent_p.F2790F|SACS_ENST00000382292.3_Silent_p.F3540F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3540					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTCTATCATAGAAATGCTTTG	0.299000													14	12					0	0	0.001855	0	0
OR6F1	343169	broad.mit.edu	37	1	247875848	247875848	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:247875848C>T	ENST00000302084.2	-	1	257	c.210G>A	c.(208-210)gaG>gaA	p.E70E	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TATACCAAATCTCCAGGAAGG	0.473000													130	2					0	0	0.003610	0	0
HK2	3099	broad.mit.edu	37	2	75101507	75101507	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:75101507C>T	ENST00000290573.2	+	7	1406	c.806C>T	c.(805-807)tCg>tTg	p.S269L	HK2_ENST00000409174.1_Missense_Mutation_p.S241L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	269	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GACGATGGCTCGCTCAACGAC	0.572000													10	8					0	0	0.006214	0	0
RSPO2	340419	broad.mit.edu	37	8	108970382	108970382	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:108970382A>C	ENST00000276659.5	-	5	1162	c.542T>G	c.(541-543)gTg>gGg	p.V181G	RSPO2_ENST00000378439.2_Missense_Mutation_p.V117G|RSPO2_ENST00000517781.1_Missense_Mutation_p.V117G|RSPO2_ENST00000517939.1_Missense_Mutation_p.V114G	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	181	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TGTGTCTTTCACTGGCTTTTT	0.438000													43	66					0	0	0.003610	0	0
MYH2	4620	broad.mit.edu	37	17	10432094	10432094	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:10432094C>T	ENST00000245503.5	-	27	4041	c.3657G>A	c.(3655-3657)gtG>gtA	p.V1219V	MYH2_ENST00000397183.2_Silent_p.V1219V|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1219					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTTCTGCTTCACTCGCTGCA	0.512000													56	53					0	0	0.003610	0	0
TMEM217	221468	broad.mit.edu	37	6	37186253	37186253	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:37186253G>A	ENST00000336655.2	-	2	593	c.554C>T	c.(553-555)tCg>tTg	p.S185L	TMEM217_ENST00000356757.2_Missense_Mutation_p.S185L|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	185						integral to membrane		p.S185L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						gaacccACTCGAAATTGATAA	0.478000													26	51					0	0	0.005443	0	0
FGF3	2248	broad.mit.edu	37	11	69625228	69625228	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:69625228C>T	ENST00000334134.2	-	3	655	c.565G>A	c.(565-567)Gag>Aag	p.E189K		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	189					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CGCACCATCTCGTGGTCCCTG	0.692000													8	3					0	0	0.006214	0	0
ZNF236	7776	broad.mit.edu	37	18	74617298	74617298	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:74617298C>T	ENST00000253159.8	+	13	2416	c.2218C>T	c.(2218-2220)Ccc>Tcc	p.P740S	ZNF236_ENST00000320610.9_Missense_Mutation_p.P742S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	740					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CGACCTTCGTCCCTATATGTG	0.433000													20	14					0	0	0.001882	0	0
F8	2157	broad.mit.edu	37	X	154157927	154157927	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:154157927C>T	ENST00000360256.4	-	14	4338	c.4138G>A	c.(4138-4140)Gag>Aag	p.E1380K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1380	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCCCCTTTCTCCTTCTCATTG	0.443000													65	163					0	0	0.003610	0	0
SLC6A12	6539	broad.mit.edu	37	12	301744	301744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:301744C>T	ENST00000428720.1	-	15	2344	c.1601G>A	c.(1600-1602)tGg>tAg	p.W534*	SLC6A12_ENST00000397296.2_Nonsense_Mutation_p.W534*|SLC6A12_ENST00000359674.4_Nonsense_Mutation_p.W534*|SLC6A12_ENST00000424061.2_Nonsense_Mutation_p.W534*|SLC6A12_ENST00000536824.1_Nonsense_Mutation_p.W534*	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	534					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGAGTATCCCCAGGGCGGGTA	0.562000													39	35					0	0	0.006999	0	0
EPB41L2	2037	broad.mit.edu	37	6	131199260	131199260	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:131199260G>A	ENST00000337057.3	-	14	2208	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F	EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.S54F|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530757.1_Missense_Mutation_p.S75F|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S676F	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	676	Spectrin--actin-binding.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGTCTGTAGGGACAGAGGTGT	0.423000													39	7					0	0	0.003610	0	0
PEAK1	79834	broad.mit.edu	37	15	77425774	77425774	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:77425774G>A	ENST00000560626.2	-	6	4125	c.3650C>T	c.(3649-3651)tCc>tTc	p.S1217F	PEAK1_ENST00000312493.4_Missense_Mutation_p.S1217F			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1217					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CCTTTCCAAGGAGTCATAAGA	0.483000													28	32					0	0	0.004656	0	0
ASAH2	56624	broad.mit.edu	37	10	52005019	52005019	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:52005019C>T	ENST00000395526.3	-	2	322	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	ASAH2_ENST00000329428.6_Missense_Mutation_p.R89Q|ASAH2_ENST00000447815.1_Missense_Mutation_p.R108Q	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	108					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GCAGTCAGCTCGTCCAACACC	0.448000													116	134					0	0	0.003610	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267729	43267729	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:43267729G>A	ENST00000372585.5	+	5	847	c.752G>A	c.(751-753)gGg>gAg	p.G251E	SLC22A7_ENST00000372589.3_Missense_Mutation_p.G249E|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Missense_Mutation_p.G249E	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	251						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCACTGGTTGGGTACCTGATA	0.647000													35	90					0	0	0.005524	0	0
MKS1	54903	broad.mit.edu	37	17	56291646	56291646	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:56291646G>A	ENST00000393119.2	-	6	692	c.618C>T	c.(616-618)atC>atT	p.I206I	MKS1_ENST00000313863.6_Silent_p.I206I|MKS1_ENST00000546108.1_Silent_p.I3I|MKS1_ENST00000537529.2_Silent_p.I196I|MKS1_ENST00000337050.7_Silent_p.I206I	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	206					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGTCTGCCATGATGTGCATTG	0.532000													35	32					0	0	0.004289	0	0
ZNF681	148213	broad.mit.edu	37	19	23927908	23927908	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:23927908C>T	ENST00000402377.3	-	4	585	c.444G>A	c.(442-444)atG>atA	p.M148I	ZNF681_ENST00000395385.3_Missense_Mutation_p.M79I	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GAAAGATTTTCATATATTTAT	0.289000													7	15					0	0	0.003080	0	0
ZNF252P	286101	broad.mit.edu	37	8	146220637	146220637	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:146220637G>A	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						ACCAACTTGTGATCCTAGACA	0.423000													30	38					0	0	0.002836	0	0
TTN	7273	broad.mit.edu	37	2	179588019	179588019	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179588019G>A	ENST00000589042.1	-	75	21939	c.21715C>T	c.(21715-21717)Cat>Tat	p.H7239Y	TTN_ENST00000342992.6_Missense_Mutation_p.H5995Y|TTN_ENST00000591111.1_Missense_Mutation_p.H6922Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6922	Ig-like 54.						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)			TCTACAGAATGATCACTTAAT	0.388000													16	24					0	0	0.006122	0	0
MEPE	56955	broad.mit.edu	37	4	88766655	88766655	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:88766655G>A	ENST00000497649.2	+	6	941	c.563G>A	c.(562-564)aGc>aAc	p.S188N	MEPE_ENST00000560249.1_Missense_Mutation_p.S99N|MEPE_ENST00000424957.3_Missense_Mutation_p.S212N|MEPE_ENST00000361056.3_Missense_Mutation_p.S212N|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.S243N|MEPE_ENST00000540395.1_Missense_Mutation_p.S99N			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	212					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAAAGCAAAAGCACCCATCGT	0.383000													24	31					0	0	0.002780	0	0
HYDIN	54768	broad.mit.edu	37	16	71163558	71163558	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:71163558G>A	ENST00000393567.2	-	9	1362	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	HYDIN_ENST00000448691.1_Silent_p.F404F|HYDIN_ENST00000393550.2_Silent_p.F404F|HYDIN_ENST00000321489.5_Silent_p.F404F|HYDIN_ENST00000288168.10_Silent_p.F421F|HYDIN_ENST00000541601.1_Silent_p.F421F|HYDIN_ENST00000538248.1_Silent_p.F431F|HYDIN_ENST00000448089.2_Silent_p.F404F	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	404										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCTCCACAGTGAAAACGTTAT	0.473000													7	16					0	0	0.001984	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702236	60702236	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:60702236G>A	ENST00000005286.4	+	9	1992	c.1839_splice	c.e9+1	p.E613_splice	TMEM132A_ENST00000453848.2_Splice_Site_p.E612_splice	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	612	Binds to HSPA5/GRP78 (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTCCATTGAGGTAAGCAGCT	0.662000													14	17					0	0	0.004990	0	0
LPO	4025	broad.mit.edu	37	17	56332262	56332262	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:56332262G>A	ENST00000262290.4	+	9	1512	c.1196G>A	c.(1195-1197)aGa>aAa	p.R399K	LPO_ENST00000421678.2_Missense_Mutation_p.R316K|LPO_ENST00000543544.1_Missense_Mutation_p.R340K|LPO_ENST00000582328.1_Missense_Mutation_p.R316K	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	399					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GAACTAAAGAGACTCAACCCT	0.572000													53	78					0	0	0.003610	0	0
SLC13A1	6561	broad.mit.edu	37	7	122839970	122839970	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:122839970G>A	ENST00000194130.2	-	1	70	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C		NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	11						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AGAAATCGGCGATAAACCAGA	0.428000													21	44					0	0	0.001882	0	0
SLC33A1	9197	broad.mit.edu	37	3	155560404	155560404	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:155560404G>A	ENST00000392845.2	-	2	1160	c.780C>T	c.(778-780)ttC>ttT	p.F260F	SLC33A1_ENST00000359479.3_Silent_p.F260F	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	260					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGAAAAAAAGGAAATCTGAAA	0.234000													8	17					0	0	0.004482	0	0
CA9	768	broad.mit.edu	37	9	35680799	35680799	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:35680799C>T	ENST00000378357.4	+	10	1391	c.1287C>T	c.(1285-1287)gtC>gtT	p.V429V	CA9_ENST00000493245.1_3'UTR	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	429					one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCACCAGCGTCGCGTTCCTTG	0.552000													26	38					0	0	0.002096	0	0
CHL1	10752	broad.mit.edu	37	3	391158	391158	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:391158G>A	ENST00000256509.2	+	10	1607	c.965G>A	c.(964-966)gGa>gAa	p.G322E	CHL1_ENST00000397491.2_Missense_Mutation_p.G306E	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	306	Ig-like C2-type 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAGGACAAAGGAAATTATCGC	0.413000													40	59					0	0	0.002522	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627116	43627116	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:43627116G>A	ENST00000332857.6	-	4	1599	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TTTATTCTGCGATGCAGGGCA	0.507000													135	15					0	0	0.003610	0	0
PDXK	8566	broad.mit.edu	37	21	45173471	45173471	+	Silent	SNP	C	C	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:45173471C>G	ENST00000291565.4	+	9	813	c.630C>G	c.(628-630)ccC>ccG	p.P210P	PDXK_ENST00000468090.1_Silent_p.P182P|PDXK_ENST00000467908.1_Silent_p.P170P	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	210					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TAGGGAATCCCGCTGGCTCCG	0.637000													7	13					0	0	0.003080	0	0
GRM3	2913	broad.mit.edu	37	7	86394884	86394884	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:86394884C>T	ENST00000361669.2	+	2	1522	c.423C>T	c.(421-423)ctC>ctT	p.L141L	GRM3_ENST00000439827.1_Silent_p.L141L|GRM3_ENST00000394720.2_Silent_p.L139L|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	141					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCCCACTTCTCATTGCAGGGG	0.413000													25	46					0	0	0.005443	0	0
PPFIA2	8499	broad.mit.edu	37	12	82070582	82070582	+	Silent	SNP	C	C	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:82070582C>G	ENST00000550584.2	-	3	586	c.291G>C	c.(289-291)ggG>ggC	p.G97G	PPFIA2_ENST00000552948.1_Silent_p.G97G|PPFIA2_ENST00000549325.1_Intron|PPFIA2_ENST00000333447.7_Intron|PPFIA2_ENST00000549396.1_Silent_p.G97G|PPFIA2_ENST00000548586.1_Silent_p.G97G	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	14										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTGGATCAGCCCCCTTAGAAC	0.403000													13	12					0	0	0.003163	0	0
CARD14	79092	broad.mit.edu	37	17	78162280	78162280	+	Silent	SNP	G	G	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:78162280G>C	ENST00000573882.1	+	7	1316	c.780G>C	c.(778-780)ggG>ggC	p.G260G	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Silent_p.G23G|CARD14_ENST00000570421.1_Silent_p.G260G|CARD14_ENST00000344227.2_Silent_p.G260G			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	260					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGGAGTCCGGGGATGAGGAGC	0.597000													17	17					0	0	0.006122	0	0
EML1	2009	broad.mit.edu	37	14	100364580	100364580	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:100364580C>T	ENST00000262233.6	+	8	977	c.838C>T	c.(838-840)Cat>Tat	p.H280Y	EML1_ENST00000327921.9_Missense_Mutation_p.H268Y|EML1_ENST00000334192.4_Missense_Mutation_p.H299Y	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	280						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CCTAGCAGTTCATCCTGATCG	0.363000													8	12					0	0	0.008291	0	0
PIP	5304	broad.mit.edu	37	7	142829228	142829228	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:142829228C>T	ENST00000291009.3	+	1	59	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	7						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GCTCCAGCTCCTGTTCAGGGC	0.562000													225	150					0	0	0.003610	0	0
FAM135B	51059	broad.mit.edu	37	8	139153455	139153455	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:139153455G>A	ENST00000395297.1	-	17	3946	c.3776C>T	c.(3775-3777)aCc>aTc	p.T1259I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1259										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTAACCAGGGTGCTGTTGTT	0.542000										HNSCC(54;0.14)			17	19					0	0	0.007413	0	0
SOX13	9580	broad.mit.edu	37	1	204093774	204093774	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:204093774C>T	ENST00000367204.1	+	13	1490	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	461					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCAGGATCTCGCTGGAAGTC	0.607000													20	0					0	0	0.002780	0	0
SYTL1	84958	broad.mit.edu	37	1	27680248	27680248	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:27680248G>A	ENST00000543823.1	+	14	2056	c.1594G>A	c.(1594-1596)Gag>Aag	p.E532K	SYTL1_ENST00000318074.5_Missense_Mutation_p.E520K|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	532					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	p.E520K(1)		NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTCCACACCTGAGGAGAAGCA	0.637000													28	1					0	0	0.005443	0	0
OR2L3	391192	broad.mit.edu	37	1	248224664	248224664	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:248224664G>A	ENST00000359959.3	+	1	681	c.681G>A	c.(679-681)atG>atA	p.M227I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTACCACATGAAATCTGCAG	0.468000													285	8					0	0	0.003610	0	0
ADH1B	125	broad.mit.edu	37	4	100232728	100232728	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:100232728T>C	ENST00000305046.8	-	7	981	c.914A>G	c.(913-915)aAc>aGc	p.N305S	ADH1B_ENST00000394887.3_Missense_Mutation_p.N265S			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	305					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAGCATAGGGTTTATTGAGAG	0.473000													81	99					0	0	0.003610	0	0
PANX1	24145	broad.mit.edu	37	11	93912790	93912790	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:93912790C>T	ENST00000227638.3	+	4	953	c.568C>T	c.(568-570)Cac>Tac	p.H190Y	PANX1_ENST00000436171.2_Missense_Mutation_p.H190Y	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	190					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATCTGAAAGCCACTTCAAGTA	0.353000													10	1					0	0	0.008291	0	0
LIPI	149998	broad.mit.edu	37	21	15561577	15561577	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:15561577G>A	ENST00000344577.2	-	2	298	c.273C>T	c.(271-273)ttC>ttT	p.F91F	LIPI_ENST00000536861.1_Silent_p.F70F	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	70					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.F91F(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTTGTGTGTTGAAATTAACAT	0.383000													44	32					0	0	0.002852	0	0
IGHV2-5	28457	broad.mit.edu	37	14	106494244	106494244	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:106494244G>A	ENST00000390597.2	-	0	267																											GCTCTTCAGAGATGGGCTGTA	0.527000													28	45					0	0	0.006320	0	0
OR51I2	390064	broad.mit.edu	37	11	5475583	5475583	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5475583C>T	ENST00000341449.2	+	1	946	c.865C>T	c.(865-867)Cct>Tct	p.P289S	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGCTCAACCCTCTCATTTA	0.463000													68	80					0	0	0.003610	0	0
DAOA	267012	broad.mit.edu	37	13	106124924	106124924	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:106124924G>A	ENST00000375936.3	+	3	217	c.171G>A	c.(169-171)agG>agA	p.R57R	DAOA_ENST00000329625.5_5'UTR|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	57						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGGTAACAAGGAAAGAAGGAT	0.398000													14	26					0	0	0.002450	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54107533	54107533	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:54107533G>A	ENST00000548263.1	-	13	1791	c.1743C>T	c.(1741-1743)ccC>ccT	p.P581P	CALCOCO1_ENST00000550804.1_Silent_p.P581P|CALCOCO1_ENST00000262059.4_Silent_p.P581P|CALCOCO1_ENST00000430117.2_Silent_p.P496P			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	581	C-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GAGGAGAAATGGGAGCCGGCT	0.622000													47	42					0	0	0.003610	0	0
EGFLAM	133584	broad.mit.edu	37	5	38352305	38352305	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:38352305C>T	ENST00000322350.5	+	5	763	c.417C>T	c.(415-417)tgC>tgT	p.C139C	EGFLAM_ENST00000354891.3_Silent_p.C139C	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	139						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TAGATTCCTGCCTGCCTCCTG	0.562000													37	62					0	0	0.002852	0	0
NTNG2	84628	broad.mit.edu	37	9	135073983	135073983	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:135073983G>A	ENST00000393229.3	+	3	1620	c.844G>A	c.(844-846)Gag>Aag	p.E282K	NTNG2_ENST00000360670.3_Missense_Mutation_p.E282K|NTNG2_ENST00000393228.4_Missense_Mutation_p.E282K|NTNG2_ENST00000372179.3_Missense_Mutation_p.E282K	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	282	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTCCAACATCGAGGTCATCGG	0.602000													16	2					0	0	0.006122	0	0
RP2	6102	broad.mit.edu	37	X	46713160	46713160	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:46713160C>T	ENST00000218340.3	+	2	513	c.352C>T	c.(352-354)Cgt>Tgt	p.R118C		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	118	C-CAP/cofactor C-like.		R -> C (in RP2).|R -> H (in RP2; reduces affinity for ARL3 800-fold; loss of stimulation of tubulin GTPase activity; no effect on subcellular location).|R -> L (in RP2; dbSNP:rs28933687).		cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding	p.R118C(1)		NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						CCAACAATTTCGTGTGCGAGA	0.418000													54	64					0	0	0.003610	0	0
TAF1L	138474	broad.mit.edu	37	9	32632418	32632418	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:32632418C>T	ENST00000242310.4	-	1	3249	c.3160G>A	c.(3160-3162)Gaa>Aaa	p.E1054K		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1054					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAGCCTGTTCTGTTGACATT	0.473000													96	106					0	0	0.003610	0	0
TRIM71	131405	broad.mit.edu	37	3	32932587	32932587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:32932587C>T	ENST00000383763.4	+	4	1954	c.1891C>T	c.(1891-1893)Cag>Tag	p.Q631*		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	631					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAACCGCATCCAGGTGTTCAA	0.647000													8	13					0	0	0.004482	0	0
KIF3C	3797	broad.mit.edu	37	2	26203482	26203482	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:26203482C>T	ENST00000264712.3	-	1	1884	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E	KIF3C_ENST00000405914.1_Silent_p.E435E	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	435					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTTGTCATCCTCCTCTTCTG	0.632000													37	43					0	0	0.008740	0	0
OR2A2	442361	broad.mit.edu	37	7	143806811	143806811	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:143806811G>A	ENST00000408979.2	+	1	205	c.136G>A	c.(136-138)Ggg>Agg	p.G46R		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GGTCATCTTTGGGATTATCTG	0.507000													64	129					0	0	0.003610	0	0
NCALD	83988	broad.mit.edu	37	8	102731743	102731743	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:102731743G>A	ENST00000395923.1	-	4	574	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	NCALD_ENST00000220931.6_Missense_Mutation_p.P39S|NCALD_ENST00000519508.2_Missense_Mutation_p.P39S|NCALD_ENST00000521599.1_Missense_Mutation_p.P39S|NCALD_ENST00000311028.3_Missense_Mutation_p.P39S|NCALD_ENST00000522951.1_Missense_Mutation_p.P39S	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	39	EF-hand 1.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			TGTCCACTGGGGCAGTCTCTC	0.468000													51	65					0	0	0.003610	0	0
RXFP2	122042	broad.mit.edu	37	13	32366148	32366148	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:32366148G>A	ENST00000298386.2	+	15	1422	c.1351G>A	c.(1351-1353)Gct>Act	p.A451T	RXFP2_ENST00000380314.1_Missense_Mutation_p.A427T	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	451						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TACAACTCACGCTATGTCCAT	0.328000													25	28					0	0	0.004656	0	0
RHOT1	55288	broad.mit.edu	37	17	30533929	30533929	+	Splice_Site	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:30533929T>C	ENST00000358365.3	+	17	1644	c.1416_splice	c.e17-1	p.L473_splice	RHOT1_ENST00000583994.1_Splice_Site_p.L346_splice|RHOT1_ENST00000545287.2_Splice_Site_p.L473_splice|RHOT1_ENST00000333942.6_Splice_Site_p.L473_splice|RHOT1_ENST00000354266.3_Splice_Site_p.L452_splice|RHOT1_ENST00000394692.2_Splice_Site_p.L473_splice|RHOT1_ENST00000581094.1_Splice_Site_p.L473_splice	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	473	Miro 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CTTTTACAAGTTGCATGATAT	0.303000													14	17					0	0	0.001855	0	0
TENM1	10178	broad.mit.edu	37	X	123785911	123785911	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:123785911C>T	ENST00000422452.2	-	8	1495	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N	TENM1_ENST00000371130.3_Missense_Mutation_p.D478N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGCTGTGTATCATCAGAGCCC	0.433000													29	59					0	0	0.008361	0	0
ZBTB41	360023	broad.mit.edu	37	1	197159928	197159928	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:197159928G>A	ENST00000367405.4	-	3	1430	c.1362C>T	c.(1360-1362)tcC>tcT	p.S454S	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TCTTCTTAATGGAAATAAATT	0.279000													29	0					0	0	0.002445	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077305	45077305	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:45077305T>A	ENST00000296130.4	+	3	678	c.498T>A	c.(496-498)gaT>gaA	p.D166E	CLEC3B_ENST00000428034.1_Missense_Mutation_p.D124E|CLEC3B_ENST00000490386.1_3'UTR	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	166	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCAACCCGATGGCGGCAAGA	0.657000													19	28					0	0	0.001882	0	0
HSF5	124535	broad.mit.edu	37	17	56557472	56557472	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:56557472C>T	ENST00000323777.3	-	2	816	c.707G>A	c.(706-708)gGa>gAa	p.G236E		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	236						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGATGCATTCCAAGGGAGTT	0.473000													61	47					0	0	0.003610	0	0
ZNF749	388567	broad.mit.edu	37	19	57956103	57956103	+	Silent	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:57956103T>C	ENST00000334181.4	+	3	1837	c.1587T>C	c.(1585-1587)caT>caC	p.H529H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCATGAGAAAATCC	0.453000													4	102					0	0	0.009096	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64506176	64506176	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:64506176C>T	ENST00000303052.7	-	6	1015	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	CSNK1G1_ENST00000303032.6_Missense_Mutation_p.E198K|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.E180K|CSNK1G1_ENST00000607537.1_Missense_Mutation_p.E198K	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	198	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TTTTTGGTTTCGGGGTCAATG	0.393000													74	82					0	0	0.003610	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497339	39497339	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:39497339G>A	ENST00000442487.3	+	3	375	c.248G>A	c.(247-249)aGc>aAc	p.S83N	APOBEC3H_ENST00000401756.1_Missense_Mutation_p.S83N|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.S83N|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.S83N	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	83					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CTCACGTGGAGCCCCTGCTCC	0.537000													22	34					0	0	0.001882	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296687	28296687	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:28296687C>T	ENST00000284987.5	-	8	2599	c.2478G>A	c.(2476-2478)acG>acA	p.T826T	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	826	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GAATTTCCTTCGTGGCAGAGT	0.443000													59	65					0	0	0.003610	0	0
IKZF1	10320	broad.mit.edu	37	7	50450371	50450371	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:50450371G>A	ENST00000331340.3	+	5	710	c.555G>A	c.(553-555)agG>agA	p.R185R	IKZF1_ENST00000359197.5_Silent_p.R185R|IKZF1_ENST00000438033.1_Silent_p.R98R|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000357364.4_Silent_p.R185R|IKZF1_ENST00000440768.2_Silent_p.R185R|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000439701.1_Silent_p.R185R|IKZF1_ENST00000343574.5_Silent_p.R98R	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	185	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCCGCCGGAGGGACGCCCTCA	0.652000			"""D,T"""	BCL6	"""ALL, DLBCL"""								6	16					0	0	0.003080	0	0
CLEC4F	165530	broad.mit.edu	37	2	71046974	71046974	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:71046974G>A	ENST00000272367.2	-	2	187	c.111C>T	c.(109-111)ctC>ctT	p.L37L	CLEC4F_ENST00000426626.1_Silent_p.L37L	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	37					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TAGCCTGAACGAGCCTCGGTA	0.557000													17	18					0	0	0.010504	0	0
BMS1	9790	broad.mit.edu	37	10	43312841	43312841	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:43312841G>A	ENST00000374518.4	+	15	2542	c.2479G>A	c.(2479-2481)Gat>Aat	p.D827N		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	827					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAAGCATTTGGATAAGAAGAG	0.328000													11	23					0	0	0.001855	0	0
TMEM217	221468	broad.mit.edu	37	6	37186304	37186304	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:37186304C>T	ENST00000336655.2	-	2	542	c.503G>A	c.(502-504)cGa>cAa	p.R168Q	TMEM217_ENST00000356757.2_Missense_Mutation_p.R168Q|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	168						integral to membrane		p.R168P(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TGTAGAAATTCGTCTCTTGTA	0.438000													47	112					0	0	0.003214	0	0
TFPI	7035	broad.mit.edu	37	2	188361661	188361661	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:188361661C>T	ENST00000233156.3	-	3	560	c.266G>A	c.(265-267)gGa>gAa	p.G89E	TFPI_ENST00000409676.1_Missense_Mutation_p.G89E|TFPI_ENST00000339091.4_Missense_Mutation_p.G89E|TFPI_ENST00000392365.1_Missense_Mutation_p.G89E|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	89	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ATTCTGATTTCCTTCACATCC	0.388000													25	48					0	0	0.005443	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741041	146741041	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:146741041G>A	ENST00000361727.3	+	4	961	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	149	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTCCGGCACGAATTACAGCA	0.423000										HNSCC(39;0.1)			35	103					0	0	0.003755	0	0
SERPINA10	51156	broad.mit.edu	37	14	94752588	94752588	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:94752588C>T	ENST00000554723.1	-	4	1538	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	SERPINA10_ENST00000393096.1_Missense_Mutation_p.E334K|SERPINA10_ENST00000554173.1_Missense_Mutation_p.E334K|SERPINA10_ENST00000261994.4_Missense_Mutation_p.E334K			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	334					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AAGAAAACTTCCATGTTTCTG	0.398000													18	29					0	0	0.001882	0	0
ZNF665	79788	broad.mit.edu	37	19	53667726	53667726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:53667726G>A	ENST00000600412.1	-	2	1937	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	ZNF665_ENST00000396424.3_Nonsense_Mutation_p.R673*			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATTCTTCGATGTTTTGCA	0.488000													12	8					0	0	0.001368	0	0
MMADHC	27249	broad.mit.edu	37	2	150436117	150436117	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:150436117G>A	ENST00000428879.1	-	3	704	c.200C>T	c.(199-201)cCt>cTt	p.P67L	MMADHC_ENST00000303319.5_Missense_Mutation_p.P67L|MMADHC_ENST00000422782.2_Missense_Mutation_p.P67L			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	67						mitochondrion				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						CTGATCTTGAGGTCCAAAGGG	0.433000													31	21					0	0	0.003755	0	0
FNBP1L	54874	broad.mit.edu	37	1	93996314	93996314	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:93996314C>T	ENST00000260506.8	+	7	664	c.513C>T	c.(511-513)gcC>gcT	p.A171A	FNBP1L_ENST00000370256.4_Silent_p.A171A|FNBP1L_ENST00000370253.2_Silent_p.A171A|FNBP1L_ENST00000604705.1_Silent_p.A171A|FNBP1L_ENST00000271234.7_Silent_p.A171A	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	171	Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		GCCCCTAGGCCAAACAGCAGT	0.313000													9	1					0	0	0.001368	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558185	140558185	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140558185G>A	ENST00000239444.2	+	1	815	c.570G>A	c.(568-570)agG>agA	p.R190R		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		190	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGATGGCAGGAAATACCCAG	0.502000													14	117					0	0	0.003163	0	0
GPR123	84435	broad.mit.edu	37	10	134906629	134906629	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:134906629G>A	ENST00000607359.1	+	10	1900	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	GPR123_ENST00000392607.3_Intron			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	488						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GTGCAGGAAAGAAGGTTCCTC	0.607000													7	13					0	0	0.001984	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176410	140176410	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140176410C>T	ENST00000526136.1	+	1	1861	c.1861C>T	c.(1861-1863)Ccg>Tcg	p.P621S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P621S|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P621S	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTCGCATCCCGTTCCGCGT	0.637000													27	28					0	0	0.007291	0	0
MYH2	4620	broad.mit.edu	37	17	10431131	10431131	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:10431131C>T	ENST00000245503.5	-	28	4189	c.3805G>A	c.(3805-3807)Gaa>Aaa	p.E1269K	MYH2_ENST00000397183.2_Missense_Mutation_p.E1269K|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1269					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCTCCTCTTCCTTTGATTTC	0.488000													47	55					0	0	0.003610	0	0
NUP214	8021	broad.mit.edu	37	9	134073006	134073006	+	Silent	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:134073006T>C	ENST00000359428.5	+	29	4269	c.4125T>C	c.(4123-4125)acT>acC	p.T1375T	NUP214_ENST00000411637.2_Silent_p.T1365T|NUP214_ENST00000451030.1_Silent_p.T1376T|NUP214_ENST00000483497.2_Silent_p.T201T|NUP214_ENST00000465486.2_3'UTR			P35658	NU214_HUMAN	nucleoporin 214kDa	1375	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTAATTTTACTGCCCCCCCGG	0.542000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								43	5					0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	62021678	62021678	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:62021678C>T	ENST00000280772.1	-	7	928	c.737G>A	c.(736-738)gGa>gAa	p.G246E	ANK3_ENST00000503366.1_Missense_Mutation_p.G229E|ANK3_ENST00000373827.2_Missense_Mutation_p.G240E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	246					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTGATATTTCCATAGTGAGC	0.468000													22	26					0	0	0.003954	0	0
EGF	1950	broad.mit.edu	37	4	110925679	110925679	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:110925679G>A	ENST00000265171.5	+	22	3637	c.3192G>A	c.(3190-3192)tcG>tcA	p.S1064S	EGF_ENST00000509793.1_Silent_p.S1022S|EGF_ENST00000503392.1_Silent_p.S1023S	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1064					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AGCTGCTATCGAAAAACCCAA	0.473000													65	84					0	0	0.003610	0	0
GJB6	10804	broad.mit.edu	37	13	20797386	20797386	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:20797386G>A	ENST00000356192.6	-	5	854	c.234C>T	c.(232-234)gcC>gcT	p.A78A	GJB6_ENST00000400065.3_Silent_p.A78A|GJB6_ENST00000241124.6_Silent_p.A78A|GJB6_ENST00000400066.3_Silent_p.A78A	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	78					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TCAGCTGGAGGGCCCACAGCC	0.572000													16	20					0	0	0.004007	0	0
ZNF679	168417	broad.mit.edu	37	7	63709527	63709527	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:63709527G>A	ENST00000421025.1	+	2	301	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	ZNF679_ENST00000255746.4_Missense_Mutation_p.R11Q	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCTGGAAGCCGAGAAATGGTG	0.572000													19	36					0	0	0.002299	0	0
PTPRH	5794	broad.mit.edu	37	19	55693499	55693499	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:55693499C>T	ENST00000376350.3	-	19	3105	c.3083G>A	c.(3082-3084)gGa>gAa	p.G1028E	PTPRH_ENST00000263434.5_Missense_Mutation_p.G850E	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1028	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AATGAGGGTTCCTGTGCGACC	0.612000													28	37					0	0	0.002096	0	0
IGHM	3507	broad.mit.edu	37	14	106321789	106321789	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:106321789G>A	ENST00000390559.2	-	0	444																											CCCTCGCGCAGCCAGGACACC	0.652000													12	15					0	0	0.001368	0	0
ANKHD1	54882	broad.mit.edu	37	5	139781650	139781650	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:139781650C>T	ENST00000297183.6	+	1	222	c.98C>T	c.(97-99)cCg>cTg	p.P33L	ANKHD1_ENST00000360839.2_Missense_Mutation_p.P33L|ANKHD1_ENST00000394722.3_Missense_Mutation_p.P33L|ANKHD1_ENST00000394723.3_Missense_Mutation_p.P33L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P33L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCGCCTCCGCCGGGAGGG	0.731000													8	8					0	0	0.008291	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49348810	49348810	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:49348810G>A	ENST00000263265.6	-	15	2185	c.1630C>T	c.(1630-1632)Cct>Tct	p.P544S	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.P519S	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	544						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TCGCCTCCAGGAGGCCGCCCC	0.577000													32	35					0	0	0.003271	0	0
FARP1	10160	broad.mit.edu	37	13	99037972	99037972	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:99037972G>A	ENST00000376586.2	+	8	999	c.663G>A	c.(661-663)cgG>cgA	p.R221R	FARP1_ENST00000595437.1_Silent_p.R221R|FARP1_ENST00000319562.6_Silent_p.R221R			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	221	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTGCCCGTCGGCTAGAGATGT	0.488000													48	47					0	0	0.003610	0	0
ANO4	121601	broad.mit.edu	37	12	101333101	101333101	+	Translation_Start_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:101333101G>A	ENST00000299222.9	+	0	380				ANO4_ENST00000392977.3_Missense_Mutation_p.D57N|ANO4_ENST00000538618.1_Missense_Mutation_p.D223N|ANO4_ENST00000392979.3_Missense_Mutation_p.D22N			Q32M45	ANO4_HUMAN	anoctamin 4							chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGTGGCCAAGGATGTCAATAT	0.383000										HNSCC(74;0.22)			39	61					0	0	0.003610	0	0
MIPEP	4285	broad.mit.edu	37	13	24433009	24433009	+	Missense_Mutation	SNP	G	G	A	rs149545169	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:24433009G>A	ENST00000382172.3	-	10	1194	c.1096C>T	c.(1096-1098)Cgt>Tgt	p.R366C		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	366					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CTTTCTGCACGAATCACACCA	0.408000													16	20					0	0	0.010504	0	0
BAGE2	85319	broad.mit.edu	37	21	11039337	11039337	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:11039337G>A	ENST00000470054.1	-	0	866									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTTCAATTTGATCTTCGCCA	0.373000													23	268					0	0	0.003330	0	0
SPANXC	64663	broad.mit.edu	37	X	140335767	140335767	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:140335767C>T	ENST00000358993.2	-	2	215	c.177G>A	c.(175-177)gtG>gtA	p.V59V		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	59			V -> F.|V -> L (in dbSNP:rs16993705).			cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					ATGTTCTTTTCACGTTCCTCC	0.498000													188	251					0	0	0.003610	0	0
ZNF833P	401898	broad.mit.edu	37	19	11796589	11796589	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:11796589G>A	ENST00000344893.3	+	0	2588					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						TGCAGAACGTGGAAAAGCCTT	0.373000													26	38					0	0	0.005443	0	0
ANO2	57101	broad.mit.edu	37	12	5848555	5848555	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:5848555G>A	ENST00000327087.8	-	13	1421	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000356134.5_Silent_p.F451F|ANO2_ENST00000546188.1_Silent_p.F451F			Q9NQ90	ANO2_HUMAN	anoctamin 2	455						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGTTTTCCAGGAACATGGTAG	0.438000													3	7					0	0	0.009096	0	0
OCLN	100506658	broad.mit.edu	37	5	68805261	68805261	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:68805261G>A	ENST00000355237.2	+	3	780	c.344G>A	c.(343-345)gGa>gAa	p.G115E	OCLN_ENST00000396442.2_Missense_Mutation_p.G115E|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.G115E	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	115	Gly/Tyr-rich.|MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GGTAGCTACGGAAGtggctat	0.527000													43	55					0	0	0.007835	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648538	41648538	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:41648538G>A	ENST00000313860.7	+	12	1347	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K	LIMCH1_ENST00000508501.1_Silent_p.K431K|LIMCH1_ENST00000512946.1_Silent_p.K431K|LIMCH1_ENST00000381753.4_Silent_p.K265K|LIMCH1_ENST00000509277.1_Silent_p.K265K|LIMCH1_ENST00000396595.3_Silent_p.K277K|LIMCH1_ENST00000514096.1_Silent_p.K272K|LIMCH1_ENST00000503057.1_Silent_p.K816K|LIMCH1_ENST00000512632.1_Silent_p.K431K|LIMCH1_ENST00000513024.1_Silent_p.K260K|LIMCH1_ENST00000511496.1_Silent_p.K272K|LIMCH1_ENST00000512820.1_Silent_p.K419K	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	431					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AAGCATATAAGAACGCTCGGT	0.468000													51	45					0	0	0.003610	0	0
PSG9	5678	broad.mit.edu	37	19	43772255	43772255	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:43772255C>T	ENST00000244293.7	-	2	177	c.111G>A	c.(109-111)acG>acA	p.T37T	PSG9_ENST00000418820.2_Silent_p.T37T|PSG9_ENST00000270077.3_Silent_p.T37T|PSG9_ENST00000596730.1_Silent_p.T37T|PSG9_ENST00000443718.3_Silent_p.T37T|PSG9_ENST00000593948.1_Silent_p.T37T|PSG9_ENST00000291752.5_Silent_p.T37T			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	37	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGGCTTCAATCGTGACTTCGG	0.483000													76	87					0	0	0.003610	0	0
ELFN2	114794	broad.mit.edu	37	22	37771307	37771307	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:37771307C>T	ENST00000402918.1	-	3	1053	c.268G>A	c.(268-270)Gag>Aag	p.E90K	ELFN2_ENST00000349653.3_Missense_Mutation_p.E90K|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	90						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TAGGAGATCTCGTTCTTGGTG	0.597000													30	19					0	0	0.008361	0	0
DPPA3	359787	broad.mit.edu	37	12	7869615	7869615	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:7869615G>A	ENST00000345088.2	+	4	539	c.422G>A	c.(421-423)tGg>tAg	p.W141*		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	141						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TCTAATGGATGGGATCCTTCT	0.368000													89	96					0	0	0.003610	0	0
CPN2	1370	broad.mit.edu	37	3	194063279	194063279	+	Silent	SNP	C	C	T	rs141207947		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:194063279C>T	ENST00000323830.3	-	2	242	c.153G>A	c.(151-153)acG>acA	p.T51T	CPN2_ENST00000429275.1_Silent_p.T51T	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	51					protein stabilization	extracellular region	enzyme regulator activity	p.T51T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGATGTTTTTCGTATATGGCG	0.537000													31	58					0	0	0.002445	0	0
CD163	9332	broad.mit.edu	37	12	7635594	7635594	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:7635594G>A	ENST00000359156.4	-	13	3297	c.3095C>T	c.(3094-3096)tCa>tTa	p.S1032L	CD163_ENST00000396620.3_Missense_Mutation_p.S1065L|CD163_ENST00000541972.1_Missense_Mutation_p.S1020L|CD163_ENST00000432237.2_Missense_Mutation_p.S1032L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1032					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTTCTGCACTGAAATATCTGT	0.358000													40	56					0	0	0.003214	0	0
ANO3	63982	broad.mit.edu	37	11	26620405	26620405	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:26620405G>A	ENST00000256737.3	+	16	2383	c.1530_splice	c.e16-1	p.E511_splice	ANO3_ENST00000537978.1_Splice_Site_p.E495_splice|ANO3_ENST00000531568.1_Splice_Site_p.E365_splice|ANO3_ENST00000525139.1_Splice_Site_p.E495_splice	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	511						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCTCTCATAGGAAACACTTCG	0.383000													12	16					0	0	0.003163	0	0
PCK1	5105	broad.mit.edu	37	20	56140524	56140524	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:56140524C>T	ENST00000319441.4	+	10	1697	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Silent_p.I194I	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	511					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGCCCAAGATCTTCCATGTCA	0.562000													22	30					0	0	0.002780	0	0
DSP	1832	broad.mit.edu	37	6	7583110	7583110	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:7583110C>T	ENST00000379802.3	+	24	5956	c.5615C>T	c.(5614-5616)tCc>tTc	p.S1872F	DSP_ENST00000418664.2_Missense_Mutation_p.S1273F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1872	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)		ACTCAATATTCCCGCAAGGAG	0.453000													40	57					0	0	0.005524	0	0
ALPI	248	broad.mit.edu	37	2	233322730	233322730	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:233322730G>A	ENST00000295463.3	+	8	956	c.879G>A	c.(877-879)acG>acA	p.T293T		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	293					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGAGACACGAAATATGAGA	0.622000													22	28					0	0	0.003330	0	0
HMGXB4	10042	broad.mit.edu	37	22	35661066	35661066	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:35661066C>T	ENST00000216106.5	+	5	813	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	HMGXB4_ENST00000444518.2_Missense_Mutation_p.R120W	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	229					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	p.R229W(1)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAAATCAGCTCGGGATGAGCA	0.468000													63	75					0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	34068071	34068071	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:34068071G>A	ENST00000373381.4	-	43	6784	c.6608C>T	c.(6607-6609)tCc>tTc	p.S2203F	CSMD2_ENST00000373380.1_Missense_Mutation_p.S1076F|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373377.1_Missense_Mutation_p.S302F|CSMD2_ENST00000373388.2_Missense_Mutation_p.S302F	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2205	CUB 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACAGTCCTGGGAGCTGGAGTA	0.597000													38	3					0	0	0.006999	0	0
SARDH	1757	broad.mit.edu	37	9	136584063	136584063	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:136584063C>T	ENST00000371872.4	-	7	1274	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E	SARDH_ENST00000422262.2_Silent_p.E171E|SARDH_ENST00000439388.1_Silent_p.E339E|SARDH_ENST00000371867.1_Silent_p.E250E	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	339					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ATCTTACCTCCTCCCAAAAGA	0.572000													18	3					0	0	0.006122	0	0
ENGASE	64772	broad.mit.edu	37	17	77082359	77082359	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:77082359C>T	ENST00000579016.1	+	14	2160	c.2160C>T	c.(2158-2160)gtC>gtT	p.V720V		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	720						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGGAGCCTGTCCCCAAGGAAG	0.632000													15	27					0	0	0.003163	0	0
C20orf166	128826	broad.mit.edu	37	20	61167705	61167705	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:61167705G>A	ENST00000370527.3	+	4	954	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	C20orf166_ENST00000370524.2_Missense_Mutation_p.E41K|C20orf166_ENST00000370523.1_Missense_Mutation_p.E41K	NM_178463.3	NP_848558.1	Q9H1L0	CT166_HUMAN	chromosome 20 open reading frame 166	59										endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			TCATTTGAAAGAAATTCTTCT	0.478000													12	20					0	0	0.001368	0	0
CHD5	26038	broad.mit.edu	37	1	6188267	6188267	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:6188267C>T	ENST00000262450.3	-	25	3841	c.3742G>A	c.(3742-3744)Gac>Aac	p.D1248N	CHD5_ENST00000378021.1_Missense_Mutation_p.D105N	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1248					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCTCCACGTCCTTGTTGTCA	0.582000													38	3					0	0	0.003610	0	0
ERBB2	2064	broad.mit.edu	37	17	37865597	37865597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:37865597C>T	ENST00000406381.2	+	6	886	c.376C>T	c.(376-378)Cag>Tag	p.Q126*	ERBB2_ENST00000584450.1_Nonsense_Mutation_p.Q156*|ERBB2_ENST00000541774.1_Nonsense_Mutation_p.Q141*|ERBB2_ENST00000269571.5_Nonsense_Mutation_p.Q156*|ERBB2_ENST00000578199.1_Nonsense_Mutation_p.Q126*|ERBB2_ENST00000540147.1_Nonsense_Mutation_p.Q126*|ERBB2_ENST00000540042.1_Nonsense_Mutation_p.Q126*|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Nonsense_Mutation_p.Q126*	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	156					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GGTCTTGATCCAGCGGAACCC	0.552000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			30	45					0	0	0.009535	0	0
NLRP3	114548	broad.mit.edu	37	1	247582364	247582364	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:247582364G>A	ENST00000366497.2	+	2	1048	c.268G>A	c.(268-270)Gat>Aat	p.D90N	NLRP3_ENST00000366496.2_Missense_Mutation_p.D90N|NLRP3_ENST00000336119.3_Missense_Mutation_p.D90N|NLRP3_ENST00000391828.3_Missense_Mutation_p.D90N|NLRP3_ENST00000391827.2_Missense_Mutation_p.D90N|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.D90N	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	90	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGCAAAAAGAGATGAGCCGAA	0.423000													50	2					0	0	0.003610	0	0
CORIN	10699	broad.mit.edu	37	4	47644058	47644058	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:47644058A>T	ENST00000273857.4	-	16	2076	c.2077T>A	c.(2077-2079)Tct>Act	p.S693T	CORIN_ENST00000502252.1_Missense_Mutation_p.S626T|CORIN_ENST00000508498.1_Missense_Mutation_p.S554T|CORIN_ENST00000505909.1_Missense_Mutation_p.S656T	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	693	SRCR.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ACATTTATAGAGAGGGTCACT	0.443000													19	35					0	0	0.010504	0	0
POTEG	404785	broad.mit.edu	37	14	19573107	19573107	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:19573107C>T	ENST00000409832.3	+	8	1257	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	402										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGGAAATGTCTCAAGAACCA	0.289000													13	132					0	0	0.001882	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16812573	16812573	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:16812573C>T	ENST00000355661.3	-	20	2929	c.2919G>A	c.(2917-2919)gtG>gtA	p.V973V	PLEKHA7_ENST00000531066.1_Silent_p.V973V|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000448080.2_Silent_p.V974V|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	973					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AATCCCCATTCACACACTGCC	0.627000													12	16					0	0	0.002450	0	0
PRAMEF14	729528	broad.mit.edu	37	1	13669144	13669144	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:13669144C>T	ENST00000344998.3	-	4	1224	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N	PRAMEF14_ENST00000334600.6_Missense_Mutation_p.D396N|PRAMEF14_ENST00000602491.1_5'UTR			Q5SWL7	PRA14_HUMAN	PRAME family member 14	348										large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACAACAGGTCCTTCAGGGCA	0.542000													54	73					0	0	0.003610	0	0
MAL2	114569	broad.mit.edu	37	8	120233971	120233971	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:120233971C>T	ENST00000276681.6	+	3	379	c.277C>T	c.(277-279)Caa>Taa	p.Q93*	MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	93	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			CATGGTGGCTCAAATTGATGC	0.438000													48	48					0	0	0.003610	0	0
ZNF831	128611	broad.mit.edu	37	20	57829327	57829327	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:57829327G>A	ENST00000371030.2	+	5	4563	c.4563G>A	c.(4561-4563)ggG>ggA	p.G1521G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1521						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGACTGCAGGGAGGACTCTGA	0.522000													14	14					0	0	0.002450	0	0
ABCG1	9619	broad.mit.edu	37	21	43711739	43711739	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:43711739G>A	ENST00000398437.1	+	14	2248	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	ABCG1_ENST00000347800.2_Silent_p.L539L|ABCG1_ENST00000343687.3_Silent_p.L553L|ABCG1_ENST00000361802.2_Silent_p.L554L|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Silent_p.L662L|ABCG1_ENST00000398457.2_Silent_p.L544L|ABCG1_ENST00000398449.3_Silent_p.L542L			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	554					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TGGGCCTGCTGATCGGAGCCG	0.667000													6	12					0	0	0.001168	0	0
CDH9	1007	broad.mit.edu	37	5	26890572	26890572	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:26890572G>A	ENST00000231021.4	-	8	1527	c.1355C>T	c.(1354-1356)cCt>cTt	p.P452L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	452	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTTATGCCAAGGAGATGATTC	0.398000													25	47					0	0	0.004656	0	0
PSMA4	5685	broad.mit.edu	37	15	78837986	78837986	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:78837986C>T	ENST00000044462.7	+	7	537	c.387C>T	c.(385-387)ccC>ccT	p.P129P	PSMA4_ENST00000559082.1_Silent_p.P129P|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558281.1_Silent_p.P129P|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000413382.2_Silent_p.P58P|PSMA4_ENST00000558094.1_Silent_p.P41P|PSMA4_ENST00000560217.1_Silent_p.P98P	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	129					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GAAAACGTCCCTTTGGTGTTT	0.403000													57	106					0	0	0.003610	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131688536	131688536	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:131688536C>T	ENST00000409359.1	+	3	3772	c.2574C>T	c.(2572-2574)ccC>ccT	p.P858P	ARHGEF4_ENST00000326016.5_Silent_p.P2P|ARHGEF4_ENST00000409303.1_Silent_p.P2P|ARHGEF4_ENST00000392953.3_Silent_p.P2P|ARHGEF4_ENST00000525839.1_Silent_p.P2P|ARHGEF4_ENST00000428230.2_Silent_p.P2P			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	2					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		ACCACATGCCCTGGGAAGAAC	0.552000													24	15					0	0	0.006320	0	0
DNAJA2	10294	broad.mit.edu	37	16	46991110	46991110	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:46991110G>A	ENST00000317089.5	-	9	1285	c.1070C>T	c.(1069-1071)tCt>tTt	p.S357F		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	357					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TTCCGGTCTAGATGGCAGAAG	0.413000													110	114					0	0	0.003610	0	0
DECR1	1666	broad.mit.edu	37	8	91057136	91057136	+	Silent	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:91057136T>A	ENST00000522161.1	+	10	1454	c.771T>A	c.(769-771)atT>atA	p.I257I	DECR1_ENST00000220764.2_Silent_p.I266I			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	266					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTGGCAGAATTCCCTGTGGTC	0.428000													42	54					0	0	0.009718	0	0
CDH10	1008	broad.mit.edu	37	5	24488164	24488164	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:24488164C>T	ENST00000264463.4	-	12	2482	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	659					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCACCCTCATCGTTATAGCTC	0.453000										HNSCC(23;0.051)			45	57					0	0	0.003610	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43862493	43862493	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:43862493C>T	ENST00000389420.3	-	8	1132	c.1133G>A	c.(1132-1134)gGt>gAt	p.G378D	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G378D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	378	Peptidase M12B.					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)		ACATATGGTACCTAAATATGA	0.313000													35	40					0	0	0.004878	0	0
PCED1B	91523	broad.mit.edu	37	12	47629761	47629761	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:47629761C>T	ENST00000546455.1	+	4	1646	c.915C>T	c.(913-915)ttC>ttT	p.F305F	PCED1B_ENST00000432328.1_Silent_p.F305F					PC-esterase domain containing 1B																		tgcttgggttcccaccccagc	0.672000													22	22					0	0	0.002299	0	0
SAMD9	54809	broad.mit.edu	37	7	92733781	92733781	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:92733781G>A	ENST00000379958.2	-	3	1899	c.1630C>T	c.(1630-1632)Cta>Tta	p.L544L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	544						cytoplasm		p.L544I(1)|p.L544V(1)		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)			GACAGTAATAGAAATACCACC	0.398000													71	45					0	0	0.003610	0	0
FOXO1	2308	broad.mit.edu	37	13	41134661	41134661	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:41134661T>C	ENST00000379561.5	-	2	1351	c.967A>G	c.(967-969)Act>Gct	p.T323A		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	323					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CCACTAATAGTACTAGCATTT	0.483000													68	55					0	0	0.003610	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209214792	209214792	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:209214792C>T	ENST00000264380.4	+	36	5577	c.5419C>T	c.(5419-5421)Cct>Tct	p.P1807S		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1807	PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACTCATAAATCCTCATGTGGA	0.343000													49	52					0	0	0.003610	0	0
LAMP3	27074	broad.mit.edu	37	3	182871954	182871954	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:182871954T>A	ENST00000265598.3	-	2	530	c.275A>T	c.(274-276)aAa>aTa	p.K92I	LAMP3_ENST00000466939.1_Missense_Mutation_p.K68I	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	92	Thr-rich.				cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TGCAGTGTTTTTTGTAGTCGC	0.483000													36	48					0	0	0.004289	0	0
FRMD7	90167	broad.mit.edu	37	X	131212947	131212947	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:131212947C>T	ENST00000298542.4	-	12	1273	c.1098G>A	c.(1096-1098)gtG>gtA	p.V366V	FRMD7_ENST00000464296.1_Silent_p.V351V|FRMD7_ENST00000370879.1_Silent_p.V246V	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	366					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GCACTCCATTCACATTTTGGT	0.483000													98	200					0	0	0.003610	0	0
GABRA6	2559	broad.mit.edu	37	5	161115987	161115987	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:161115987C>T	ENST00000523217.1	+	4	470	c.228C>T	c.(226-228)acC>acT	p.T76T	GABRA6_ENST00000274545.5_Silent_p.T86T|GABRA6_ENST00000522269.1_3'UTR|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	86					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCCGCCAGACCTGGACTGATG	0.403000										TCGA Ovarian(5;0.080)			30	57					0	0	0.008740	0	0
SLC5A4	6527	broad.mit.edu	37	22	32647781	32647781	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:32647781G>A	ENST00000266086.4	-	3	299	c.288C>T	c.(286-288)gtC>gtT	p.V96V	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	96					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTACGGTGGCGACTCCTGAAG	0.473000													51	63					0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	3889560	3889560	+	Silent	SNP	C	C	T	rs111253069		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:3889560C>T	ENST00000602557.1	-	4	1032	c.477G>A	c.(475-477)acG>acA	p.T159T	CSMD1_ENST00000539096.1_Silent_p.T159T|CSMD1_ENST00000520002.1_Silent_p.T159T|CSMD1_ENST00000602723.1_Silent_p.T159T|CSMD1_ENST00000542608.1_Silent_p.T159T|CSMD1_ENST00000400186.3_Silent_p.T159T|CSMD1_ENST00000537824.1_Silent_p.T159T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	159	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTTGAATCTCGTTCCATGCA	0.458000													27	35					0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179400746	179400746	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179400746C>T	ENST00000589042.1	-	357	100952	c.100728G>A	c.(100726-100728)ggG>ggA	p.G33576G	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Silent_p.G31008G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.G31935G|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Silent_p.G24703G|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Silent_p.G24511G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Silent_p.G24636G|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31935	Ig-like 147.						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)			ACACAGATCCCCCTTGGTTGG	0.438000													40	42					0	0	0.003610	0	0
CEP85	64793	broad.mit.edu	37	1	26597588	26597588	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:26597588C>T	ENST00000252992.4	+	10	1864	c.1733C>T	c.(1732-1734)tCg>tTg	p.S578L	CEP85_ENST00000451429.2_Missense_Mutation_p.S527L|CEP85_ENST00000469609.1_3'UTR	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	578						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CGATACGATTCGCTCCAAAAG	0.507000													60	5					0	0	0.003610	0	0
ULK1	8408	broad.mit.edu	37	12	132399011	132399011	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:132399011C>T	ENST00000321867.4	+	16	1713	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	454					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCACCCAGTTCCAAACACCTC	0.647000													7	9					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9076958	9076958	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9076958C>T	ENST00000397910.4	-	3	10691	c.10488G>A	c.(10486-10488)gaG>gaA	p.E3496E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3497	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						CCCTCAGAGTCTCAAGCCCTA	0.517000													29	35					0	0	0.006320	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319082	21319082	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:21319082C>T	ENST00000583088.1	+	3	1323	c.428C>T	c.(427-429)aCc>aTc	p.T143I	KCNJ12_ENST00000331718.5_Missense_Mutation_p.T143I	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		ACGCAGACCACCATCGGCTAC	0.657000										Prostate(3;0.18)			5	31					0	0	0.003080	0	0
ADAM22	53616	broad.mit.edu	37	7	87759722	87759722	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:87759722C>T	ENST00000398204.4	+	10	1096	c.773C>T	c.(772-774)tCc>tTc	p.S258F	ADAM22_ENST00000398209.3_Missense_Mutation_p.S258F|ADAM22_ENST00000315984.7_Missense_Mutation_p.S258F|ADAM22_ENST00000439864.1_Missense_Mutation_p.S258F|ADAM22_ENST00000398201.4_Missense_Mutation_p.S258F|ADAM22_ENST00000265727.7_Missense_Mutation_p.S258F	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	258	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CATCGGCTTTCCGTTGTACAT	0.368000													35	60					0	0	0.005524	0	0
KDM4B	23030	broad.mit.edu	37	19	5039969	5039969	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:5039969C>T	ENST00000159111.4	+	4	482	c.264C>T	c.(262-264)atC>atT	p.I88I	KDM4B_ENST00000381759.4_Silent_p.I88I|KDM4B_ENST00000536461.1_Silent_p.I88I	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	88					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGTACAATATCCAGAAGAAGG	0.677000													19	31					0	0	0.010504	0	0
KNTC1	9735	broad.mit.edu	37	12	123060103	123060103	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:123060103C>T	ENST00000333479.7	+	28	2573	c.2396C>T	c.(2395-2397)gCc>gTc	p.A799V	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	799					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)		ATATTTGATGCCGTGCTCAAG	0.488000													4	3					0	0	0.000602	0	0
CHST13	166012	broad.mit.edu	37	3	126261167	126261167	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:126261167C>T	ENST00000319340.2	+	3	822	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	258					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CCACCCGTGTCGCCTCCGCTA	0.716000													4	3					0	0	0.009096	0	0
LILRA3	11026	broad.mit.edu	37	19	54803190	54803190	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:54803190C>T	ENST00000391745.1	-	8	854	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.E163K					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTGGGTGTTCATCTTCTCCT	0.577000													47	46					0	0	0.003610	0	0
TLL1	7092	broad.mit.edu	37	4	166916232	166916232	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:166916232C>T	ENST00000061240.2	+	5	1181	c.534C>T	c.(532-534)ttC>ttT	p.F178F	TLL1_ENST00000513213.1_Silent_p.F178F|TLL1_ENST00000507499.1_Silent_p.F178F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	178	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAGCCATGTTCAAGCAGGCCA	0.453000													50	53					0	0	0.003610	0	0
LONRF2	164832	broad.mit.edu	37	2	100903486	100903486	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:100903486C>T	ENST00000393437.3	-	11	2599	c.1960G>A	c.(1960-1962)Gat>Aat	p.D654N	LONRF2_ENST00000409647.1_Missense_Mutation_p.D411N	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	654	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TGCACAGAATCGTGGAGAGCG	0.478000													17	12					0	0	0.004007	0	0
ALOX15B	247	broad.mit.edu	37	17	7948223	7948223	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:7948223C>T	ENST00000380183.4	+	6	892	c.753C>T	c.(751-753)atC>atT	p.I251I	ALOX15B_ENST00000572022.1_Silent_p.I251I|ALOX15B_ENST00000573359.1_Silent_p.I251I|ALOX15B_ENST00000380173.2_Silent_p.I251I	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	251	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CTGTCCTGATCCGCCGCTGTC	0.607000													22	23					0	0	0.002299	0	0
COL18A1	80781	broad.mit.edu	37	21	46927503	46927503	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:46927503G>A	ENST00000359759.4	+	37	4511	c.4490G>A	c.(4489-4491)gGg>gAg	p.G1497E	COL18A1_ENST00000355480.5_Missense_Mutation_p.G1262E|COL18A1_ENST00000400337.2_Missense_Mutation_p.G1082E|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1497	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCCCACGAGGGACGGTAAGG	0.617000													5	6					0	0	0.001168	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531002	140531002	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140531002C>T	ENST00000231136.1	+	1	1164	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P	PCDHB6_ENST00000543635.1_Silent_p.P252P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		388	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATCTCCCCTTTCTACTAA	0.458000													36	55					0	0	0.008740	0	0
OR6F1	343169	broad.mit.edu	37	1	247875604	247875604	+	Missense_Mutation	SNP	C	C	A	rs138812909	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:247875604C>A	ENST00000302084.2	-	1	501	c.454G>T	c.(454-456)Ggt>Tgt	p.G152C	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCCACGAAACCACACACCCAG	0.582000													56	85					4.09171e-25	7.24363e-25	0.003610	1	0
SSMEM1	136263	broad.mit.edu	37	7	129856019	129856019	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:129856019G>A	ENST00000297819.3	+	3	495	c.444G>A	c.(442-444)acG>acA	p.T148T		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1																		GTGATACTACGGAGTATGGCA	0.483000													30	72					0	0	0.002445	0	0
PAPOLA	10914	broad.mit.edu	37	14	96991699	96991699	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:96991699G>A	ENST00000216277.8	+	4	522	c.302G>A	c.(301-303)gGa>gAa	p.G101E	PAPOLA_ENST00000557320.1_Missense_Mutation_p.G101E|PAPOLA_ENST00000554130.1_Intron|PAPOLA_ENST00000392990.2_Missense_Mutation_p.G101E|PAPOLA_ENST00000557471.1_Missense_Mutation_p.G101E	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	101					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TTTACATTTGGATCTTACAGA	0.328000													5	72					0	0	0.000602	0	0
DSCAM	1826	broad.mit.edu	37	21	41711223	41711223	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:41711223C>T	ENST00000400454.1	-	7	1807	c.1330G>A	c.(1330-1332)Gat>Aat	p.D444N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	444	Ig-like C2-type 5.				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)				ATCGGGTCATCGTCCAGGGTC	0.567000													12	20					0	0	0.002450	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810605	106810605	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:106810605G>A	ENST00000526355.1	-	4	1255	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R263W|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R263W	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	263					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ACATCCAGCCGATAGATCTTC	0.463000													36	7					0	0	0.005524	0	0
CSMD3	114788	broad.mit.edu	37	8	113529451	113529451	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:113529451G>A	ENST00000297405.5	-	28	4812	c.4568C>T	c.(4567-4569)tCt>tTt	p.S1523F	CSMD3_ENST00000455883.2_Missense_Mutation_p.S1419F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1483F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1523F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1523	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTGGCAACAGAACCTATCAA	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	11					0	0	0.000978	0	0
MYBL2	4605	broad.mit.edu	37	20	42328579	42328579	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:42328579C>T	ENST00000217026.4	+	7	973	c.846C>T	c.(844-846)tcC>tcT	p.S282S	MYBL2_ENST00000396863.4_Silent_p.S258S	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	282						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGGAAGGCTCCCCACCAGAAA	0.587000													6	17					0	0	0.001168	0	0
FRMD3	257019	broad.mit.edu	37	9	85863229	85863229	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:85863229G>A	ENST00000304195.3	-	14	1604	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L	FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000328788.1_Silent_p.L123L|FRMD3_ENST00000376438.1_Silent_p.L466L|FRMD3_ENST00000376434.1_Silent_p.L272L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	466						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GACAGTCAAAGAGCATGTCAA	0.438000													44	7					0	0	0.003610	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810340	140810340	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140810340G>A	ENST00000252085.3	+	1	156	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCCTGCGCGACTGCACCGG	0.517000													36	42					0	0	0.004878	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452373	26452373	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:26452373C>T	ENST00000244519.2	+	11	1732	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	BTN3A3_ENST00000361232.3_Missense_Mutation_p.P448S|BTN3A3_ENST00000339789.4_Missense_Mutation_p.P455S	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	497	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GCCTCTATATCCTGTTTTCAG	0.478000													51	106					0	0	0.003610	0	0
MLLT3	4300	broad.mit.edu	37	9	20414405	20414405	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:20414405G>A	ENST00000380338.4	-	5	725	c.439C>T	c.(439-441)Cat>Tat	p.H147Y	MLLT3_ENST00000429426.2_Missense_Mutation_p.H144Y|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.H147Y(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ctgctgGTATGAATACTCCTA	0.488000			T	MLL	ALL								11	22					0	0	0.008291	0	0
MYH4	4622	broad.mit.edu	37	17	10348605	10348605	+	Silent	SNP	G	G	A	rs149221663		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:10348605G>A	ENST00000255381.2	-	36	5354	c.5244C>T	c.(5242-5244)atC>atT	p.I1748I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1748					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCCTGGACGATGTCCTCCA	0.468000													63	69					0	0	0.003610	0	0
SULT1E1	6783	broad.mit.edu	37	4	70713508	70713508	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:70713508G>A	ENST00000226444.3	-	6	611	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	167					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GAACCATAAGGAACTAAAATT	0.338000													29	35					0	0	0.008361	0	0
PGAP3	93210	broad.mit.edu	37	17	37840880	37840880	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:37840880G>A	ENST00000300658.4	-	3	494	c.402C>T	c.(400-402)ccC>ccT	p.P134P	PGAP3_ENST00000579146.1_Silent_p.P134P|PGAP3_ENST00000378011.4_Intron|PGAP3_ENST00000429199.2_Silent_p.P134P	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	134					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TGTGGTACATGGGGGAGGAGG	0.587000													20	11					0	0	0.010504	0	0
KMO	8564	broad.mit.edu	37	1	241755436	241755436	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:241755436C>T	ENST00000366559.4	+	15	1753	c.1442C>T	c.(1441-1443)tCc>tTc	p.S481F	KMO_ENST00000366557.4_Missense_Mutation_p.S447F|KMO_ENST00000366558.3_Missense_Mutation_p.S468F	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	481					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GAACAAATTTCCAATCTCATT	0.418000													42	2					0	0	0.009718	0	0
DPP8	54878	broad.mit.edu	37	15	65772729	65772729	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:65772729G>A	ENST00000341861.5	-	10	2755	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	DPP8_ENST00000321118.7_Missense_Mutation_p.S392F|DPP8_ENST00000300141.6_Missense_Mutation_p.S376F|DPP8_ENST00000358939.4_Missense_Mutation_p.S376F|DPP8_ENST00000559233.1_Missense_Mutation_p.S392F|DPP8_ENST00000339244.5_Intron|DPP8_ENST00000321147.6_Missense_Mutation_p.S392F	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	392					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAGTAGGATGGACCAAGCACT	0.373000													10	18					0	0	0.006214	0	0
TXNRD3NB	645840	broad.mit.edu	37	3	126291117	126291117	+	Silent	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:126291117A>T	ENST00000383572.2	-	3	748	c.270T>A	c.(268-270)ctT>ctA	p.L90L	TXNRD3NB_ENST00000404489.2_Silent_p.L90L	NM_001039783.1	NP_001034872.1	Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	90										endometrium(1)|large_intestine(2)|skin(2)	5						gctctccagaaagacattttg	0.542000													13	18					0	0	0.001855	0	0
UGGT2	55757	broad.mit.edu	37	13	96553067	96553067	+	Silent	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:96553067A>G	ENST00000376747.3	-	22	2698	c.2628T>C	c.(2626-2628)aaT>aaC	p.N876N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	876					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTACTCTCCCATTGCTGACAA	0.393000													26	39					0	0	0.002096	0	0
RBM45	129831	broad.mit.edu	37	2	178990712	178990712	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:178990712C>T	ENST00000286070.5	+	9	1326	c.1232_splice	c.e9-1	p.R412_splice		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	414	RRM 3.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TTGTTTCAGTCGTTTTGGTAA	0.378000													13	30					0	0	0.001855	0	0
UBR4	23352	broad.mit.edu	37	1	19445392	19445392	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:19445392G>A	ENST00000375267.2	-	71	10518	c.10515C>T	c.(10513-10515)acC>acT	p.T3505T	UBR4_ENST00000375254.3_Silent_p.T3505T|UBR4_ENST00000375217.2_Silent_p.T3498T|UBR4_ENST00000375226.2_Silent_p.T3481T			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3505					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGGGTGGTTGGTAAGAATAT	0.423000													44	6					0	0	0.003610	0	0
CNOT6	57472	broad.mit.edu	37	5	179996264	179996264	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:179996264C>T	ENST00000393356.1	+	12	1606	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	CNOT6_ENST00000261951.4_Silent_p.L394L			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	394					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CTCGCAACCTCAAATCCAGTG	0.378000													55	63					0	0	0.003610	0	0
ACSM4	341392	broad.mit.edu	37	12	7469768	7469768	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:7469768G>A	ENST00000399422.4	+	4	704	c.656G>A	c.(655-657)gGa>gAa	p.G219E		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	219					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GTGGAAACAGGAAGTCAAGAA	0.502000													8	14					0	0	0.004482	0	0
PAQR5	54852	broad.mit.edu	37	15	69652438	69652438	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:69652438C>T	ENST00000340965.3	+	3	687	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S	PAQR5_ENST00000561153.1_Missense_Mutation_p.P7S|PAQR5_ENST00000561027.1_3'UTR|PAQR5_ENST00000395407.2_Missense_Mutation_p.P7S	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	7					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CCTGAAGCTCCCCAGGCTGTT	0.547000													28	37					0	0	0.003271	0	0
EML2	24139	broad.mit.edu	37	19	46116831	46116831	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:46116831G>A	ENST00000536630.1	-	21	2371	c.2233C>T	c.(2233-2235)Cac>Tac	p.H745Y	EML2_ENST00000589876.1_Missense_Mutation_p.H598Y|EML2_ENST00000587152.1_Missense_Mutation_p.H799Y|EML2_ENST00000245925.3_Missense_Mutation_p.H598Y	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	598					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CTAAACAGGTGAACTTTGCCA	0.582000													29	34					0	0	0.002096	0	0
ZNF423	23090	broad.mit.edu	37	16	49669970	49669970	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:49669970G>A	ENST00000561648.1	-	4	3146	c.3093C>T	c.(3091-3093)tcC>tcT	p.S1031S	ZNF423_ENST00000535559.1_Silent_p.S914S|ZNF423_ENST00000563137.2_Silent_p.S971S|ZNF423_ENST00000562871.1_Silent_p.S971S|ZNF423_ENST00000567169.1_Silent_p.S914S|ZNF423_ENST00000562520.1_Silent_p.S971S|ZNF423_ENST00000262383.2_Silent_p.S1031S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1031					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCTCAAGCGTGGAAGTGACTG	0.597000													9	15					0	0	0.006214	0	0
TEX14	56155	broad.mit.edu	37	17	56676453	56676453	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:56676453G>A	ENST00000389934.3	-	14	2370	c.2253C>T	c.(2251-2253)atC>atT	p.I751I	TEX14_ENST00000349033.5_Silent_p.I751I|TEX14_ENST00000240361.8_Silent_p.I757I	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	757						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATATCTGCTCGATATTCCTCA	0.418000													58	81					0	0	0.003610	0	0
UBL7	84993	broad.mit.edu	37	15	74741678	74741678	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:74741678G>A	ENST00000567435.1	-	9	1194	c.731C>T	c.(730-732)cCc>cTc	p.P244L	UBL7_ENST00000564488.1_Missense_Mutation_p.P244L|UBL7_ENST00000565335.1_Missense_Mutation_p.P244L|UBL7_ENST00000361351.4_Missense_Mutation_p.P244L|UBL7_ENST00000395081.2_Missense_Mutation_p.P244L			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	244							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						ACTGCTAGAGGGTGTGGACCT	0.597000													8	10					0	0	0.004482	0	0
ANAPC1	64682	broad.mit.edu	37	2	112620093	112620093	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:112620093T>A	ENST00000341068.3	-	10	1907	c.1135A>T	c.(1135-1137)Aag>Tag	p.K379*		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	379					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTATGTCTCTTTGGAGACTGA	0.413000													4	13					0	0	0.001984	0	0
TLL1	7092	broad.mit.edu	37	4	166915560	166915560	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:166915560G>A	ENST00000061240.2	+	4	1036	c.389G>A	c.(388-390)gGa>gAa	p.G130E	TLL1_ENST00000513213.1_Missense_Mutation_p.G130E|TLL1_ENST00000507499.1_Missense_Mutation_p.G130E	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	130					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACAGTTAAGGGAAAAGTACCT	0.418000													24	20					0	0	0.006320	0	0
FCGBP	8857	broad.mit.edu	37	19	40363084	40363084	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:40363084C>T	ENST00000221347.6	-	32	14993	c.14986G>A	c.(14986-14988)Gac>Aac	p.D4996N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4996	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGACAAAGTCGTCACTCCAG	0.642000													7	17					0	0	0.003080	0	0
CDH17	1015	broad.mit.edu	37	8	95201490	95201490	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:95201490C>T	ENST00000027335.3	-	3	199	c.75G>A	c.(73-75)ggG>ggA	p.G25G	CDH17_ENST00000450165.2_Silent_p.G25G|CDH17_ENST00000441892.2_Silent_p.G25G	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	25						integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CACTAAACTTCCCCTCTTGGC	0.398000													34	46					0	0	0.005524	0	0
DNAH10	196385	broad.mit.edu	37	12	124371737	124371737	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:124371737G>A	ENST00000409039.3	+	51	8543	c.8518G>A	c.(8518-8520)Gaa>Aaa	p.E2840K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2840	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGTTTCCGGGAAGACCTGAA	0.547000													22	9					0	0	0.002299	0	0
MROH2B	133558	broad.mit.edu	37	5	41054941	41054941	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:41054941C>T	ENST00000399564.4	-	11	1485	c.1033_splice	c.e11-1	p.E345_splice	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCAACCTGGGCTCTGAAAGAC	0.378000													25	29					0	0	0.008361	0	0
ARHGAP4	393	broad.mit.edu	37	X	153186550	153186550	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:153186550C>T	ENST00000370028.3	-	4	555	c.498_splice	c.e4+1	p.T166_splice	ARHGAP4_ENST00000350060.5_Splice_Site_p.T166_splice|ARHGAP4_ENST00000537206.1_Splice_Site_p.T143_splice|ARHGAP4_ENST00000393721.1_Splice_Site_p.T166_splice|ARHGAP4_ENST00000370016.1_Intron	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	166					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTTCCTCACCGTCTGGAGCT	0.632000													9	1					0	0	0.000978	0	0
CCR8	1237	broad.mit.edu	37	3	39374688	39374688	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:39374688C>T	ENST00000326306.4	+	2	1004	c.866C>T	c.(865-867)tCc>tTc	p.S289F	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Missense_Mutation_p.S206F	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	289					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		GAAATCATTTCCTTTACTCAC	0.423000													28	21					0	0	0.008361	0	0
COL15A1	1306	broad.mit.edu	37	9	101796861	101796861	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:101796861G>A	ENST00000375001.3	+	17	2497	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	692	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTCAGTTGGTGAAAAGGTaaa	0.353000													11	2					0	0	0.008291	0	0
CCDC108	255101	broad.mit.edu	37	2	219903137	219903137	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:219903137C>T	ENST00000341552.5	-	4	400	c.317G>A	c.(316-318)aGc>aAc	p.S106N	CCDC108_ENST00000324264.6_Missense_Mutation_p.S41N|CCDC108_ENST00000295729.2_Missense_Mutation_p.S41N|CCDC108_ENST00000441968.1_Missense_Mutation_p.S106N|CCDC108_ENST00000453220.1_Missense_Mutation_p.S106N|CCDC108_ENST00000410037.1_Missense_Mutation_p.S41N|CCDC108_ENST00000409865.3_Missense_Mutation_p.S95N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	106						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGCACTGCTGTCGTTGAT	0.637000													20	32					0	0	0.010504	0	0
SDAD1	55153	broad.mit.edu	37	4	76891466	76891466	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:76891466G>A	ENST00000356260.5	-	10	997	c.879C>T	c.(877-879)ccC>ccT	p.P293P	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Silent_p.P256P	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	293					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACGTACCTTGGGGATCATGAA	0.398000													39	25					0	0	0.002522	0	0
MMP19	4327	broad.mit.edu	37	12	56231370	56231370	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:56231370C>T	ENST00000394182.1	-	3	298	c.299G>A	c.(298-300)tGg>tAg	p.W100*	MMP19_ENST00000409200.3_Intron|MMP19_ENST00000548629.1_Nonsense_Mutation_p.W363*|MMP19_ENST00000322569.4_Nonsense_Mutation_p.W386*			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	386					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GTTGAGAGGCCAATAGAGAGC	0.458000													48	55					0	0	0.003610	0	0
ADD2	119	broad.mit.edu	37	2	70923465	70923465	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:70923465C>T	ENST00000264436.3	-	5	830	c.386G>A	c.(385-387)gGg>gAg	p.G129E	ADD2_ENST00000413157.2_Missense_Mutation_p.G129E|ADD2_ENST00000355733.3_Missense_Mutation_p.G129E|ADD2_ENST00000407644.2_Missense_Mutation_p.G129E|ADD2_ENST00000430656.1_Missense_Mutation_p.G145E	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	129					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GAGCCGCTCCCCTTTGGCCAG	0.592000													13	11					0	0	0.002450	0	0
FRAS1	80144	broad.mit.edu	37	4	79204065	79204065	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:79204065C>T	ENST00000264895.6	+	12	1639	c.1199C>T	c.(1198-1200)cCa>cTa	p.P400L	FRAS1_ENST00000264899.6_Missense_Mutation_p.P400L|FRAS1_ENST00000325942.6_Missense_Mutation_p.P400L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	400	VWFC 6.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCACCATGTCCAGTGGGCACA	0.552000													18	25					0	0	0.006122	0	0
UBIAD1	29914	broad.mit.edu	37	1	11333829	11333829	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:11333829C>T	ENST00000376810.5	+	1	567	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S	UBIAD1_ENST00000376804.2_Missense_Mutation_p.P81S	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	81					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TGTCCTGGATCCCAGGCTCTT	0.597000													49	59					0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196738347	196738347	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:196738347C>T	ENST00000312428.6	-	39	6458	c.6358G>A	c.(6358-6360)Gat>Aat	p.D2120N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2120	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGATTTATCACTAAACTCA	0.274000													30	45					0	0	0.002445	0	0
SLX4	84464	broad.mit.edu	37	16	3639402	3639402	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:3639402G>A	ENST00000294008.3	-	12	4877	c.4237C>T	c.(4237-4239)Ccc>Tcc	p.P1413S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1413	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCCAGTGGGGGGCTTCTGTTG	0.607000								Direct reversal of damage					39	47					0	0	0.006999	0	0
UBE2D1	7321	broad.mit.edu	37	10	60124590	60124590	+	Silent	SNP	C	C	T	rs144227480	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:60124590C>T	ENST00000373910.4	+	5	485	c.258C>T	c.(256-258)ctC>ctT	p.L86L		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	86					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						GTATTTGTCTCGATATTCTGA	0.323000													28	34					0	0	0.009535	0	0
SRL	6345	broad.mit.edu	37	16	4253226	4253226	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:4253226G>A	ENST00000399609.3	-	3	212	c.200C>T	c.(199-201)tCc>tTc	p.S67F	SRL_ENST00000537996.1_Missense_Mutation_p.S25F	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	526	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AGGCTTGATGGATGAGTGGTA	0.567000													29	44					0	0	0.002445	0	0
DNAH5	1767	broad.mit.edu	37	5	13829759	13829759	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:13829759G>A	ENST00000265104.4	-	38	6408	c.6304C>T	c.(6304-6306)Cgc>Tgc	p.R2102C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2102	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2102C(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCACTGAGCGGAAATTAATC	0.448000									Kartagener syndrome				39	46					0	0	0.003214	0	0
ITGB7	3695	broad.mit.edu	37	12	53594188	53594188	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:53594188G>A	ENST00000267082.5	-	3	271	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	ITGB7_ENST00000338737.4_Silent_p.L14L|ITGB7_ENST00000422257.3_Silent_p.L14L|ITGB7_ENST00000550743.2_Silent_p.L14L	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	14					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTCTGCTCAGGACCAGCAGC	0.552000													15	15					0	0	0.004990	0	0
SERPINE1	5054	broad.mit.edu	37	7	100780314	100780314	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:100780314G>A	ENST00000223095.4	+	8	1277	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	SERPINE1_ENST00000445463.2_Missense_Mutation_p.E359K	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	374					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GGCCCCCGAGGAGATCATCAT	0.592000													46	54					0	0	0.003610	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17053075	17053075	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:17053075G>A	ENST00000262096.8	+	4	1010	c.315G>A	c.(313-315)caG>caA	p.Q105Q		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	105						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		AAGCCCATCAGGAAGTTCTTA	0.403000													27	29					0	0	0.005443	0	0
ALDH7A1	501	broad.mit.edu	37	5	125887820	125887820	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:125887820G>A	ENST00000409134.3	-	14	1429	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	ALDH7A1_ENST00000553117.1_Missense_Mutation_p.R340C|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.R367C	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	404					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	TTTCCAGGGCGATCCATAACC	0.398000													13	13					0	0	0.003163	0	0
CDHR5	53841	broad.mit.edu	37	11	618892	618892	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:618892C>T	ENST00000358353.3	-	14	1989	c.1667G>A	c.(1666-1668)gGa>gAa	p.G556E	CDHR5_ENST00000397542.2_Missense_Mutation_p.G556E|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	556	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGTGCTGGTTCCCACACCGGG	0.652000													41	42					0	0	0.003214	0	0
PALD1	27143	broad.mit.edu	37	10	72324221	72324221	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:72324221C>T	ENST00000263563.6	+	19	2632	c.2364C>T	c.(2362-2364)ctC>ctT	p.L788L		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		ACGCGTACCTCCACCTGGAGA	0.642000													43	55					0	0	0.003610	0	0
ENOX2	10495	broad.mit.edu	37	X	129790564	129790564	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:129790564C>T	ENST00000338144.3	-	11	1624	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	ENOX2_ENST00000394363.1_Missense_Mutation_p.E374K|ENOX2_ENST00000370927.1_Missense_Mutation_p.E403K|ENOX2_ENST00000370935.1_Missense_Mutation_p.E374K	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	403					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CCTGATTCCTCAGTTTCTTTT	0.318000													41	68					0	0	0.005524	0	0
COL7A1	1294	broad.mit.edu	37	3	48607608	48607608	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:48607608C>T	ENST00000328333.8	-	98	7551	c.7444G>A	c.(7444-7446)Gaa>Aaa	p.E2482K	COL7A1_ENST00000454817.1_Missense_Mutation_p.E2450K	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2482	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGCCATCTTCACCCTGGATG	0.582000													19	25					0	0	0.010504	0	0
C12orf42	374470	broad.mit.edu	37	12	103696155	103696155	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:103696155G>A	ENST00000548048.1	-	9	1109	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	C12orf42_ENST00000378113.2_Missense_Mutation_p.P272S|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.P272S			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	272										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TTTCCGACGGGATTTCCGGAC	0.657000													21	23					0	0	0.003330	0	0
GPM6B	2824	broad.mit.edu	37	X	13834993	13834993	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:13834993C>T	ENST00000316715.4	-	1	468	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	GPM6B_ENST00000493677.1_5'UTR|GPM6B_ENST00000454189.2_Intron|GPM6B_ENST00000355135.2_Missense_Mutation_p.E11K|GPM6B_ENST00000398361.3_Intron|GPM6B_ENST00000356942.5_Missense_Mutation_p.E11K	NM_001001995.1	NP_001001995.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	11					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						TCAGTATTTTCCTCGGCTGCA	0.478000													117	117					0	0	0.003610	0	0
FLT3	2322	broad.mit.edu	37	13	28636006	28636006	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:28636006G>C	ENST00000380982.4	-	3	447	c.366C>G	c.(364-366)aaC>aaG	p.N122K	FLT3_ENST00000241453.7_Missense_Mutation_p.N122K|FLT3_ENST00000537084.1_Missense_Mutation_p.N122K			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	122					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCACTTACCTGTTTTGTAAAT	0.398000			"""Mis, O"""		"""AML, ALL"""								15	22					0	0	0.004007	0	0
DCLK3	85443	broad.mit.edu	37	3	36759603	36759603	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:36759603G>A	ENST00000416516.2	-	4	2141	c.1651C>T	c.(1651-1653)Ccc>Tcc	p.P551S	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	551	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.P551S(1)		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						CGGAATGGGGGAAAGCCACAC	0.557000													68	103					0	0	0.003610	0	0
OR52D1	390066	broad.mit.edu	37	11	5510719	5510719	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5510719C>T	ENST00000322641.5	+	1	805	c.783C>T	c.(781-783)tcC>tcT	p.S261S	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTCTTCTCCTTCCTCACCC	0.502000													33	43					0	0	0.003755	0	0
CEP112	201134	broad.mit.edu	37	17	63847922	63847922	+	Splice_Site	SNP	C	C	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:63847922C>A	ENST00000392769.2	-	21	2612	c.2394_splice	c.e21+1	p.K798_splice	CEP112_ENST00000541355.1_Splice_Site_p.K433_splice|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000535342.2_Splice_Site_p.K798_splice|CEP112_ENST00000537949.1_Splice_Site_p.K756_splice	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	798						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						AATATCTTACCTTTTCCAGTG	0.353000													44	68					4.10826e-27	7.27626e-27	0.003610	1	0
PIK3CG	5294	broad.mit.edu	37	7	106508907	106508907	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:106508907G>A	ENST00000359195.3	+	2	1211	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	PIK3CG_ENST00000440650.2_Missense_Mutation_p.E301K|PIK3CG_ENST00000496166.1_Missense_Mutation_p.E301K	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	301					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAAGAACGGAGAAGAGATTCA	0.592000													15	47					0	0	0.003163	0	0
TXLNB	167838	broad.mit.edu	37	6	139563669	139563669	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:139563669G>A	ENST00000358430.3	-	10	2281	c.2049C>T	c.(2047-2049)gtC>gtT	p.V683V	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	683						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AGGCTTAGTCGACGCCTTCCA	0.582000													15	4					0	0	0.004007	0	0
KDM7A	80853	broad.mit.edu	37	7	139818920	139818920	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:139818920G>A	ENST00000397560.2	-	9	1336	c.1239C>T	c.(1237-1239)acC>acT	p.T413T	JHDM1D_ENST00000006967.5_Silent_p.T413T	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		413					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TACCTTTCAGGGTTTCCAGCA	0.353000													77	181					0	0	0.003610	0	0
ITGAX	3687	broad.mit.edu	37	16	31374287	31374287	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:31374287C>T	ENST00000268296.4	+	13	1512	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	ITGAX_ENST00000562522.1_Missense_Mutation_p.S464F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	464					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						TCCCTCTGCTCCGTGGACGTA	0.667000													28	44					0	0	0.003271	0	0
ADAM7	8756	broad.mit.edu	37	8	24350600	24350600	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:24350600C>T	ENST00000175238.6	+	16	1783	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.S567F|ADAM7_ENST00000520720.1_Missense_Mutation_p.S339F|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	567	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGGGAGCTTTCCTCTCTCCTT	0.393000													27	35					0	0	0.009535	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215761	20215761	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:20215761C>T	ENST00000331723.1	+	1	175	c.175C>T	c.(175-177)Cct>Tct	p.P59S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTCCAATCTCCTATGTATTA	0.408000													71	137					0	0	0.003610	0	0
ZNF768	79724	broad.mit.edu	37	16	30536829	30536829	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:30536829G>A	ENST00000380412.5	-	2	807	c.632C>T	c.(631-633)cCc>cTc	p.P211L	ZNF768_ENST00000562803.1_Missense_Mutation_p.P180L	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	211					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGGCCCTATGGGCAGGTCCCC	0.582000													29	50					0	0	0.002096	0	0
TP63	8626	broad.mit.edu	37	3	189586378	189586378	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:189586378C>T	ENST00000264731.3	+	8	1091	c.1002C>T	c.(1000-1002)gtC>gtT	p.V334V	TP63_ENST00000382063.4_Silent_p.V249V|TP63_ENST00000392463.2_Silent_p.V240V|TP63_ENST00000437221.1_Silent_p.V240V|TP63_ENST00000392460.3_Silent_p.V334V|TP63_ENST00000392461.3_Silent_p.V240V|TP63_ENST00000449992.1_Silent_p.V155V|TP63_ENST00000354600.5_Silent_p.V240V|TP63_ENST00000440651.2_Silent_p.V334V|TP63_ENST00000320472.5_Silent_p.V334V|TP63_ENST00000418709.2_Silent_p.V334V|TP63_ENST00000456148.1_Silent_p.V240V	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	334					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GTGGGCAAGTCCTGGGCCGAC	0.488000										HNSCC(45;0.13)			15	25					0	0	0.003163	0	0
RAB27B	5874	broad.mit.edu	37	18	52555255	52555255	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:52555255A>T	ENST00000262094.5	+	5	894	c.373A>T	c.(373-375)Aat>Tat	p.N125Y	RP11-839G9.1_ENST00000588466.1_RNA|RAB27B_ENST00000586594.1_3'UTR	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	125					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TTATTGTGAAAATCCAGATAT	0.408000													62	58					0	0	0.003610	0	0
DACH1	1602	broad.mit.edu	37	13	72255972	72255972	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:72255972G>A	ENST00000305425.4	-	2	1347	c.925C>T	c.(925-927)Cat>Tat	p.H309Y	DACH1_ENST00000354591.4_Missense_Mutation_p.H309Y|DACH1_ENST00000359684.2_Missense_Mutation_p.H309Y|DACH1_ENST00000313174.7_Missense_Mutation_p.H309Y	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	307	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GGGACAGAATGCGGCATGATG	0.423000													28	32					0	0	0.002445	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532751	84532751	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:84532751C>T	ENST00000527857.1	+	0	2773					NR_026851.1																						TTAAAACTTTCCGTATGAGGA	0.433000													9	0					0	0	0.006214	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675767	167675767	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:167675767G>A	ENST00000357154.3	-	9	969	c.832C>T	c.(832-834)Ctt>Ttt	p.L278F	SPOCK3_ENST00000357545.4_Missense_Mutation_p.L275F|SPOCK3_ENST00000510741.1_Missense_Mutation_p.L235F|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512648.1_Missense_Mutation_p.L275F|SPOCK3_ENST00000512681.1_Missense_Mutation_p.L180F|SPOCK3_ENST00000506886.1_Missense_Mutation_p.L278F|SPOCK3_ENST00000421836.2_Missense_Mutation_p.L227F|SPOCK3_ENST00000511531.1_Missense_Mutation_p.L278F|SPOCK3_ENST00000504953.1_Missense_Mutation_p.L275F|SPOCK3_ENST00000541637.1_Missense_Mutation_p.L180F|SPOCK3_ENST00000511269.1_Missense_Mutation_p.L275F|SPOCK3_ENST00000541354.1_Missense_Mutation_p.L158F|SPOCK3_ENST00000535728.1_Missense_Mutation_p.L146F|SPOCK3_ENST00000502330.1_Missense_Mutation_p.L278F|SPOCK3_ENST00000534949.1_Missense_Mutation_p.L182F	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	278					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TTCTTATCAAGGTAAATGCTT	0.403000													36	39					0	0	0.004289	0	0
BPIFA2	140683	broad.mit.edu	37	20	31763300	31763300	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:31763300G>A	ENST00000253362.2	+	5	644	c.498G>A	c.(496-498)caG>caA	p.Q166Q	BPIFA2_ENST00000354932.5_Silent_p.Q166Q			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	166						extracellular region	lipid binding										AGACACACCAGCCTGTTGCCG	0.527000													57	80					0	0	0.003610	0	0
DCC	1630	broad.mit.edu	37	18	51025679	51025679	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:51025679G>A	ENST00000442544.2	+	27	4526	c.3910G>A	c.(3910-3912)Gga>Aga	p.G1304R	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.G937R	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1304					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGTGAGTGAAGGACCAACTAC	0.502000													35	28					0	0	0.006230	0	0
IRS4	8471	broad.mit.edu	37	X	107977900	107977900	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:107977900C>T	ENST00000372129.2	-	1	1751	c.1675G>A	c.(1675-1677)Ggt>Agt	p.G559S		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	559						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.G559C(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGGCCACCACCTGAACCGTGC	0.652000													64	92					0	0	0.003610	0	0
EPB41L1	2036	broad.mit.edu	37	20	34773072	34773072	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:34773072C>T	ENST00000338074.2	+	7	761	c.600C>T	c.(598-600)atC>atT	p.I200I	EPB41L1_ENST00000373941.1_Silent_p.I200I|EPB41L1_ENST00000202028.5_Silent_p.I138I|EPB41L1_ENST00000373946.3_Silent_p.I169I|EPB41L1_ENST00000441639.1_Silent_p.I138I|EPB41L1_ENST00000373950.2_Silent_p.I103I	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	200	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGGCAGACATCATCACGGGCC	0.612000													22	36					0	0	0.003330	0	0
MAS1L	116511	broad.mit.edu	37	6	29455614	29455614	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:29455614C>T	ENST00000377127.3	-	1	124	c.66G>A	c.(64-66)caG>caA	p.Q22Q		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	22						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGAGAGATATCTGTGACTCAG	0.522000													45	18					0	0	0.003610	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48253491	48253491	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:48253491C>T	ENST00000246802.5	+	3	384	c.346C>T	c.(346-348)Ctt>Ttt	p.L116F	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	116						nucleolus		p.L116I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CAAGAAACCCCTTCGGGTTGA	0.527000													15	19					0	0	0.006122	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572553	140572553	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140572553C>T	ENST00000239446.4	+	1	612	c.428C>T	c.(427-429)tCa>tTa	p.S143L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		143	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAAAAATATCAGAAAATACA	0.433000													29	49					0	0	0.009535	0	0
SOX3	6658	broad.mit.edu	37	X	139586875	139586875	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:139586875C>T	ENST00000370536.2	-	1	350	c.351G>A	c.(349-351)gcG>gcA	p.A117A		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	117					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CGCCCGAGTTCGCGCCGCCGG	0.706000													6	14					0	0	0.001984	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778487	56778487	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:56778487C>T	ENST00000423391.1	-	1	149	c.48G>A	c.(46-48)ggG>ggA	p.G16G	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	16						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CCTTGCACATCCCTGACCCAT	0.567000													16	22					0	0	0.004007	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147027972	147027972	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:147027972C>T	ENST00000265272.5	-	5	1370	c.903G>A	c.(901-903)agG>agA	p.R301R	JAKMIP2_ENST00000507386.1_Silent_p.R301R|JAKMIP2_ENST00000333010.6_Silent_p.R259R	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	301						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGGTATTCCTGTCTTCTA	0.303000													45	58					0	0	0.003610	0	0
ATP11C	286410	broad.mit.edu	37	X	138840015	138840015	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:138840015G>A	ENST00000370557.1	-	23	3670	c.2643C>T	c.(2641-2643)ttC>ttT	p.F881F	ATP11C_ENST00000359686.2_Silent_p.F887F|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Silent_p.F887F|ATP11C_ENST00000370543.1_Silent_p.F887F|ATP11C_ENST00000327569.3_Silent_p.F887F			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	887					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GTGGCAAAATGAAACAAAGGT	0.279000													14	17					0	0	0.004990	0	0
ZNF343	79175	broad.mit.edu	37	20	2464164	2464164	+	Silent	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:2464164A>G	ENST00000278772.4	-	6	1930	c.1443T>C	c.(1441-1443)ctT>ctC	p.L481L	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TCTGGTGGACAAGGAGGAGTG	0.527000													23	44					0	0	0.002780	0	0
PCSK5	5125	broad.mit.edu	37	9	78938195	78938195	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:78938195G>A	ENST00000545128.1	+	31	4787	c.4249G>A	c.(4249-4251)Gag>Aag	p.E1417K		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	666					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAGACTAAGGAGTGCAGAGG	0.507000													19	2					0	0	0.010504	0	0
FSCB	84075	broad.mit.edu	37	14	44974330	44974330	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:44974330C>T	ENST00000340446.4	-	1	2152	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	621	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGCTGAACTTCAGCGGGGGCC	0.622000													15	14					0	0	0.010504	0	0
RNF19A	25897	broad.mit.edu	37	8	101270989	101270989	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:101270989G>A	ENST00000519449.1	-	11	2628	c.2312C>T	c.(2311-2313)tCc>tTc	p.S771F	RNF19A_ENST00000341084.2_Missense_Mutation_p.S771F	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	771	Interaction with CASR.				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTGATGTGGGGAATTTTCCAG	0.403000													24	35					0	0	0.002780	0	0
PLRG1	5356	broad.mit.edu	37	4	155461949	155461949	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:155461949G>A	ENST00000499023.2	-	9	951	c.825C>T	c.(823-825)ctC>ctT	p.L275L	PLRG1_ENST00000302078.5_Silent_p.L266L|PLRG1_ENST00000393905.2_Silent_p.L275L	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	275						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TATTGTATTCGAGATCCCAGC	0.373000													47	38					0	0	0.003610	0	0
CDX2	1045	broad.mit.edu	37	13	28539094	28539094	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:28539094C>T	ENST00000381020.7	-	2	2732	c.600G>A	c.(598-600)gaG>gaA	p.E200E	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	200					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		CCTTCTCCAGCTCCAGCCGCT	0.582000			T	ETV6	AML								6	14					0	0	0.001984	0	0
BTK	695	broad.mit.edu	37	X	100611058	100611058	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:100611058C>T	ENST00000308731.7	-	15	1711	c.1548G>A	c.(1546-1548)caG>caA	p.Q516Q	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	516	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGTGAAGGAACTGCTTTGACT	0.517000									Agammaglobulinemia, X-linked				61	82					0	0	0.003610	0	0
SARDH	1757	broad.mit.edu	37	9	136584065	136584065	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:136584065C>T	ENST00000371872.4	-	7	1272	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	SARDH_ENST00000422262.2_Missense_Mutation_p.E171K|SARDH_ENST00000439388.1_Missense_Mutation_p.E339K|SARDH_ENST00000371867.1_Missense_Mutation_p.E250K	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	339					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CTTACCTCCTCCCAAAAGATG	0.572000													18	3					0	0	0.006122	0	0
LILRA5	353514	broad.mit.edu	37	19	54822649	54822649	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:54822649C>T	ENST00000446712.3	-	4	789	c.711G>A	c.(709-711)caG>caA	p.Q237Q	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Intron|LILRA5_ENST00000432233.3_Silent_p.Q249Q|LILRA5_ENST00000301219.3_Intron	NM_181986.2	NP_871715.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	0					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTGGCTTCCCTGAATTGTAC	0.517000													25	30					0	0	0.003954	0	0
SYMPK	8189	broad.mit.edu	37	19	46330784	46330784	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:46330784G>A	ENST00000245934.7	-	16	2409	c.2165C>T	c.(2164-2166)tCc>tTc	p.S722F		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	722					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTTCTCATGGGAGCTGAGGTC	0.597000													20	13					0	0	0.008871	0	0
FRMPD2	143162	broad.mit.edu	37	10	49400782	49400782	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:49400782C>T	ENST00000374201.3	-	16	2412	c.2110G>A	c.(2110-2112)Gat>Aat	p.D704N	FRMPD2_ENST00000305531.3_Missense_Mutation_p.D679N|FRMPD2_ENST00000407470.4_Missense_Mutation_p.D672N	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	704					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.D704Y(1)		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)		TTGAAGTTATCCATTGATGTA	0.522000													25	26					0	0	0.004656	0	0
PCNXL3	399909	broad.mit.edu	37	11	65385973	65385973	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:65385973C>T	ENST00000355703.3	+	6	1679	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	380						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGCTCCTGGTCGTGCGGCCCA	0.682000													5	7					0	0	0.001168	0	0
ZNF99	7652	broad.mit.edu	37	19	22941304	22941304	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:22941304T>G	ENST00000397104.3	-	5	1133	c.1134A>C	c.(1132-1134)agA>agC	p.R378S	ZNF99_ENST00000596209.1_Missense_Mutation_p.R469S					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTCATGTTTTCTAAGGGCTG	0.353000													25	36					0	0	0.003954	0	0
TBL1X	6907	broad.mit.edu	37	X	9659735	9659735	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:9659735G>A	ENST00000217964.7	+	8	1373	c.733G>A	c.(733-735)Gat>Aat	p.D245N	TBL1X_ENST00000380961.1_Missense_Mutation_p.D194N|TBL1X_ENST00000536365.1_Missense_Mutation_p.D194N|TBL1X_ENST00000407597.2_Missense_Mutation_p.D245N|TBL1X_ENST00000424279.1_Missense_Mutation_p.D194N	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	245					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TCCTGTCAGTGATTTGCTAGC	0.542000													18	34					0	0	0.001882	0	0
IGLV6-57	28778	broad.mit.edu	37	22	22550398	22550398	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:22550398G>A	ENST00000390285.2	+	0	161																											TGCTGACTCAGCCCCACTCTG	0.557000											OREG0026353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	15					0	0	0.001368	0	0
CCDC65	85478	broad.mit.edu	37	12	49314977	49314977	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:49314977G>A	ENST00000266984.5	+	8	1433	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.E402E			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	402										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TAGGAATGGAGAATTTCTGGA	0.517000													17	20					0	0	0.008871	0	0
NUP210L	91181	broad.mit.edu	37	1	154090246	154090246	+	Silent	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:154090246A>T	ENST00000368559.3	-	12	1646	c.1575T>A	c.(1573-1575)gtT>gtA	p.V525V	NUP210L_ENST00000271854.3_Silent_p.V525V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	525						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTCGGGCCAAAACAGTACTAT	0.423000													126	4					0	0	0.003610	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6889985	6889985	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:6889985C>T	ENST00000419673.2	+	12	1375	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	ARHGAP28_ENST00000383472.4_Silent_p.F545F|ARHGAP28_ENST00000262227.3_Silent_p.F493F|ARHGAP28_ENST00000531294.1_Silent_p.F381F|ARHGAP28_ENST00000418986.1_Silent_p.F386F|ARHGAP28_ENST00000532996.1_Silent_p.F368F|ARHGAP28_ENST00000314319.3_Silent_p.F386F|ARHGAP28_ENST00000400091.2_Silent_p.F545F	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	368					signal transduction	intracellular		p.F545F(1)|p.F386F(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ACCTTTTCTTCAGTAGAAGCA	0.408000													33	38					0	0	0.002445	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38157053	38157053	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:38157053G>A	ENST00000317025.8	-	15	3184	c.2667C>T	c.(2665-2667)tcC>tcT	p.S889S	WHSC1L1_ENST00000527502.1_Silent_p.S889S|WHSC1L1_ENST00000433384.2_Intron	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	889					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTAGGTAGTGGGACTTATAGG	0.398000			T	NUP98	AML								21	25					0	0	0.010504	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468448	72468448	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:72468448G>A	ENST00000373208.1	+	4	784	c.784G>A	c.(784-786)Gag>Aag	p.E262K	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.E262K	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	262	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTACAGCATCGAGGTGCTGCT	0.612000													42	51					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9069395	9069395	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9069395C>T	ENST00000397910.4	-	3	18254	c.18051G>A	c.(18049-18051)ggG>ggA	p.G6017G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6019	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						AATTGGTGGTCCCCATATTGG	0.458000													81	132					0	0	0.003610	0	0
SLC7A14	57709	broad.mit.edu	37	3	170244485	170244485	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:170244485C>T	ENST00000231706.4	-	2	556	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	81						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CCTGCCATTTCCTTGGCCACC	0.532000													21	42					0	0	0.002780	0	0
RYR3	6263	broad.mit.edu	37	15	33925186	33925186	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:33925186G>A	ENST00000389232.4	+	24	2974	c.2904G>A	c.(2902-2904)ttG>ttA	p.L968L	RYR3_ENST00000415757.3_Silent_p.L968L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	968	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCCCCTTTGGATTTGTCTG	0.368000													53	59					0	0	0.003610	0	0
DNAH9	1770	broad.mit.edu	37	17	11608399	11608399	+	Missense_Mutation	SNP	G	G	A	rs149294395	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:11608399G>A	ENST00000262442.3	+	26	5517	c.5449G>A	c.(5449-5451)Gag>Aag	p.E1817K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1817K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1817	Stem (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)		TTGGGATGACGAGGTCAAACA	0.502000													42	47					0	0	0.002522	0	0
ZNF799	90576	broad.mit.edu	37	19	12502508	12502508	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:12502508G>A	ENST00000419318.1	-	4	1357	c.608C>T	c.(607-609)tCt>tTt	p.S203F	ZNF799_ENST00000430385.3_Missense_Mutation_p.S235F|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ACTGTAAAAAGAAAAGGCTTT	0.383000													57	72					0	0	0.003610	0	0
PREP	5550	broad.mit.edu	37	6	105733416	105733416	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:105733416G>A	ENST00000369110.3	-	12	1686	c.1494C>T	c.(1492-1494)atC>atT	p.I498I		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	498					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CCACTGCCAGGATACCACCCA	0.453000													36	5					0	0	0.007835	0	0
HECTD4	283450	broad.mit.edu	37	12	112677814	112677814	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:112677814C>T	ENST00000550722.1	-	33	4933	c.4538G>A	c.(4537-4539)tGt>tAt	p.C1513Y	HECTD4_ENST00000430131.2_Missense_Mutation_p.C1237Y|HECTD4_ENST00000377560.5_Missense_Mutation_p.C1487Y	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CATCCCACCACATGTGAGTTC	0.502000													33	32					0	0	0.004289	0	0
KRT31	3881	broad.mit.edu	37	17	39553606	39553606	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:39553606G>A	ENST00000251645.2	-	1	238	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	62	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGTCGTTCAGGAACTGCATAG	0.622000													44	63					0	0	0.003610	0	0
ZNF721	170960	broad.mit.edu	37	4	436612	436612	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:436612C>T	ENST00000338977.5	-	2	1656	c.1608G>A	c.(1606-1608)agG>agA	p.R536R	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Silent_p.R548R|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TATGAATTCTCCTATGTACAT	0.408000													58	74					0	0	0.003610	0	0
FRAS1	80144	broad.mit.edu	37	4	79369265	79369265	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:79369265C>T	ENST00000264895.6	+	44	6509	c.6069C>T	c.(6067-6069)gtC>gtT	p.V2023V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2022					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAGTTTTAGTCCAGGGCTCAA	0.502000													11	11					0	0	0.000978	0	0
HEG1	57493	broad.mit.edu	37	3	124731581	124731581	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:124731581G>A	ENST00000311127.4	-	6	2909	c.2842C>T	c.(2842-2844)Cct>Tct	p.P948S		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	948						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGGGGAGAAGGAGATGTTCCG	0.512000													18	8					0	0	0.004990	0	0
OPN4	94233	broad.mit.edu	37	10	88417789	88417789	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:88417789G>A	ENST00000372071.2	+	4	551	c.323_splice	c.e4-1	p.Q108_splice	OPN4_ENST00000241891.5_Splice_Site_p.R97_splice	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	97					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						ATCCTCCCAGGAGCAGAAGCC	0.572000													25	23					0	0	0.003330	0	0
ABCA8	10351	broad.mit.edu	37	17	66902247	66902247	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:66902247G>A	ENST00000269080.2	-	17	2353	c.2216C>T	c.(2215-2217)tCc>tTc	p.S739F	ABCA8_ENST00000586539.1_Missense_Mutation_p.S779F|ABCA8_ENST00000430352.2_Missense_Mutation_p.S779F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	739						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGTTGTCATGGAAACACCATA	0.308000													57	65					0	0	0.003610	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134073	233134073	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:233134073C>T	ENST00000258229.8	-	32	5949	c.5715G>A	c.(5713-5715)caG>caA	p.Q1905Q	PCNXL2_ENST00000344698.2_Silent_p.Q557Q	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1905						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CGCTGCTCTCCTGGCTGCCAC	0.627000													57	1					0	0	0.003610	0	0
SRSF3	6428	broad.mit.edu	37	6	36566699	36566699	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:36566699C>T	ENST00000373715.6	+	3	396	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	SRSF3_ENST00000339436.7_Missense_Mutation_p.P94S	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	94	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						TGGCCCACCTCCCTCTTGGGG	0.478000													39	93					0	0	0.003610	0	0
SPDYE3	441272	broad.mit.edu	37	7	99912223	99912223	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:99912223G>A	ENST00000332397.6	+	6	1235	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	351										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTGTTTGGATGAATCTGATGA	0.602000													38	20					0	0	0.003610	0	0
UNC45B	146862	broad.mit.edu	37	17	33482367	33482367	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:33482367C>T	ENST00000268876.5	+	7	789	c.692C>T	c.(691-693)gCc>gTc	p.A231V	UNC45B_ENST00000591048.1_Missense_Mutation_p.A231V|UNC45B_ENST00000394570.2_Missense_Mutation_p.A231V|UNC45B_ENST00000433649.1_Missense_Mutation_p.A231V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A231V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	231					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGCCTCATGGCCGTGGAGAAT	0.567000													34	26					0	0	0.003755	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602185	58602185	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:58602185C>T	ENST00000287275.1	-	6	992	c.602G>A	c.(601-603)gGa>gAa	p.G201E	GLYATL2_ENST00000532258.1_Missense_Mutation_p.G201E	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	201						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CACACCAAATCCTAGAAAATC	0.463000													16	23					0	0	0.004007	0	0
SEC24A	10802	broad.mit.edu	37	5	134010889	134010889	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:134010889A>T	ENST00000398844.2	+	6	1421	c.1133A>T	c.(1132-1134)aAa>aTa	p.K378I	SEC24A_ENST00000322887.4_Missense_Mutation_p.K378I	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	378					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACATCCAGAAACTCAACTGT	0.423000													22	26					0	0	0.008361	0	0
PUS7L	83448	broad.mit.edu	37	12	44142338	44142338	+	Missense_Mutation	SNP	G	G	A	rs140009727		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:44142338G>A	ENST00000416848.2	-	3	1473	c.985C>T	c.(985-987)Cct>Tct	p.P329S	PUS7L_ENST00000553166.1_Missense_Mutation_p.P329S|PUS7L_ENST00000431332.3_Missense_Mutation_p.P16S|PUS7L_ENST00000344862.5_Missense_Mutation_p.P329S|PUS7L_ENST00000551923.1_Missense_Mutation_p.P329S	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	329					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AAATCCGAAGGAATAACACCA	0.348000													54	67					0	0	0.003610	0	0
CCDC132	55610	broad.mit.edu	37	7	92970754	92970754	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:92970754C>T	ENST00000544910.1	+	24	2204	c.1984C>T	c.(1984-1986)Cct>Tct	p.P662S	CCDC132_ENST00000305866.5_Missense_Mutation_p.P692S|CCDC132_ENST00000535481.1_Missense_Mutation_p.P412S|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_Missense_Mutation_p.P503S	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	692										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TTCAGCTGATCCTACTGCCAC	0.393000													16	16					0	0	0.004007	0	0
CLCA4	22802	broad.mit.edu	37	1	87043677	87043677	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:87043677G>A	ENST00000370563.3	+	12	2086	c.2044G>A	c.(2044-2046)Gga>Aga	p.G682R	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	682						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TCGGGCTCATGGAGGAGCAAA	0.433000													25	3					0	0	0.004656	0	0
KIF15	56992	broad.mit.edu	37	3	44856487	44856487	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:44856487C>T	ENST00000326047.4	+	20	2617	c.2468C>T	c.(2467-2469)tCa>tTa	p.S823L	KIF15_ENST00000425755.1_Missense_Mutation_p.S458L	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	823					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAATATAGTTCATTCAAAACG	0.353000													38	39					0	0	0.006999	0	0
GPR98	84059	broad.mit.edu	37	5	90079760	90079760	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:90079760C>T	ENST00000405460.2	+	67	13635	c.13539C>T	c.(13537-13539)ccC>ccT	p.P4513P	GPR98_ENST00000425867.2_Silent_p.P174P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4513					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGACTCTCCCTTTGGAGTTA	0.453000													7	7					0	0	0.001984	0	0
SSH3	54961	broad.mit.edu	37	11	67079175	67079175	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:67079175C>T	ENST00000308127.4	+	14	1975	c.1797C>T	c.(1795-1797)tcC>tcT	p.S599S	SSH3_ENST00000308298.7_Silent_p.S334S|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	599					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCCTGAAGTCCCGCCAGTCAG	0.667000													27	16					0	0	0.006320	0	0
CLCA4	22802	broad.mit.edu	37	1	87043668	87043668	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:87043668C>T	ENST00000370563.3	+	12	2077	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	679						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.R679W(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTAAAAGTTCGGGCTCATGG	0.438000													31	3					0	0	0.002836	0	0
SALL1	6299	broad.mit.edu	37	16	51172696	51172696	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:51172696G>A	ENST00000440970.1	-	2	3577	c.3146C>T	c.(3145-3147)tCg>tTg	p.S1049L	SALL1_ENST00000251020.4_Missense_Mutation_p.S1146L|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1146					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)			CAGGGCACTCGATGAGGAGAA	0.507000													9	13					0	0	0.000978	0	0
KMT2C	58508	broad.mit.edu	37	7	151970823	151970823	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:151970823A>G	ENST00000355193.2	-	7	1197	c.979T>C	c.(979-981)Tgt>Cgt	p.C327R	KMT2C_ENST00000262189.6_Missense_Mutation_p.C327R					lysine (K)-specific methyltransferase 2C																		TGTTCTGGACAAAGCAGGAAG	0.388000													8	229					0	0	0.003080	0	0
PGR	5241	broad.mit.edu	37	11	100933403	100933403	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:100933403G>A	ENST00000325455.5	-	4	3440	c.1987C>T	c.(1987-1989)Cca>Tca	p.P663S	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.P69S	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	663					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTTTCATTTGGAACGCCCACT	0.428000													38	4					0	0	0.006999	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062171	76062171	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:76062171G>A	ENST00000260045.3	-	5	2128	c.2023C>T	c.(2023-2025)Cct>Tct	p.P675S		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	675					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TACACATTAGGAAAAAACTTG	0.428000													38	51					0	0	0.006999	0	0
DSCAM	1826	broad.mit.edu	37	21	41719705	41719705	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:41719705C>T	ENST00000400454.1	-	6	1579	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	368	Ig-like C2-type 4.				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	p.E368Q(1)		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)				ATAAGGTTTTCGTGGTTGATC	0.512000													109	154					0	0	0.003610	0	0
ACSF2	80221	broad.mit.edu	37	17	48551589	48551589	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:48551589C>T	ENST00000427954.2	+	16	1876	c.1833C>T	c.(1831-1833)atC>atT	p.I611I	ACSF2_ENST00000504392.1_Silent_p.I543I|ACSF2_ENST00000541920.1_Silent_p.I426I|ACSF2_ENST00000300441.4_Silent_p.I586I|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000502667.1_Silent_p.I573I			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	586					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CGAAGTACATCGTGTTTGTCA	0.592000													38	56					0	0	0.008740	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996397	140996397	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:140996397C>T	ENST00000285879.4	+	4	3493	c.3207C>T	c.(3205-3207)ttC>ttT	p.F1069F	MAGEC1_ENST00000406005.2_Silent_p.F136F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1069	MAGE.						protein binding	p.F1069F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTTACGAATTCCTGTGGGGTC	0.488000										HNSCC(15;0.026)			84	190					0	0	0.003610	0	0
NGF	4803	broad.mit.edu	37	1	115829023	115829023	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:115829023C>T	ENST00000369512.2	-	3	562	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	132					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	ACCGAGAATTCGCCCCTGTGG	0.567000													44	1					0	0	0.009718	0	0
SPIC	121599	broad.mit.edu	37	12	101880268	101880268	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:101880268A>T	ENST00000551346.1	+	6	625	c.466A>T	c.(466-468)Aaa>Taa	p.K156*	SPIC_ENST00000299272.5_Nonsense_Mutation_p.K156*			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	156						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						GCTTTGGGGGAAAAGAAAAGG	0.423000													22	35					0	0	0.010504	0	0
WNT8B	7479	broad.mit.edu	37	10	102238824	102238824	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:102238824C>T	ENST00000343737.5	+	2	212	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	28					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TGAACAATTTCCTGATGACTG	0.333000													18	19					0	0	0.010504	0	0
DSG4	147409	broad.mit.edu	37	18	28983388	28983388	+	Missense_Mutation	SNP	G	G	A	rs74896702		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:28983388G>A	ENST00000359747.4	+	11	1456	c.1427G>A	c.(1426-1428)gGa>gAa	p.G476E	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G476E|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	476	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.G476V(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GATGGCTCTGGAAAAACAGCT	0.403000													7	7					0	0	0.003080	0	0
PAF1	54623	broad.mit.edu	37	19	39877418	39877418	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:39877418C>T	ENST00000221265.3	-	12	1338	c.1008G>A	c.(1006-1008)cgG>cgA	p.R336R	PAF1_ENST00000595564.1_Silent_p.R326R|PAF1_ENST00000221266.7_Silent_p.R303R	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	336					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CAGCCTTGGCCCGGCGCTTAC	0.572000													27	41					0	0	0.007291	0	0
APOL3	80833	broad.mit.edu	37	22	36537752	36537752	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:36537752G>A	ENST00000424878.2	-	4	2253	c.105C>T	c.(103-105)atC>atT	p.I35I	APOL3_ENST00000397287.2_Silent_p.I35I|APOL3_ENST00000349314.2_Silent_p.I235I|APOL3_ENST00000397293.2_Silent_p.I164I|APOL3_ENST00000361710.2_Silent_p.I35I|APOL3_ENST00000487423.1_5'UTR			O95236	APOL3_HUMAN	apolipoprotein L, 3	235					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TGCTGGTGGTGATCCCAGTCA	0.547000													9	12					0	0	0.006214	0	0
CSMD2	114784	broad.mit.edu	37	1	34209078	34209078	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:34209078G>A	ENST00000373381.4	-	14	2152	c.1976C>T	c.(1975-1977)gCc>gTc	p.A659V		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	619	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCGTTGAAGGCCAGGTGGAT	0.602000													67	6					0	0	0.003610	0	0
SRP9	6726	broad.mit.edu	37	1	225971047	225971047	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:225971047G>C	ENST00000366839.4	+	2	222	c.118G>C	c.(118-120)Gtt>Ctt	p.V40L	SRP9_ENST00000304786.7_Missense_Mutation_p.V40L|SRP9_ENST00000366838.1_Missense_Mutation_p.V40L	NM_001130440.1	NP_001123912.1	P49458	SRP09_HUMAN	signal recognition particle 9kDa	40					negative regulation of translational elongation|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle receptor complex|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			endometrium(1)|kidney(1)|skin(1)	3						GAACTTGTGTGTTAAAGTAAC	0.269000													153	4					0	0	0.003610	0	0
RANBP9	10048	broad.mit.edu	37	6	13697093	13697093	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:13697093G>A	ENST00000011619.3	-	2	665	c.607C>T	c.(607-609)Cga>Tga	p.R203*		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	203	B30.2/SPRY.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TGCGTGGCTCGAACTGACGCG	0.393000													41	130					0	0	0.003610	0	0
RNF19B	127544	broad.mit.edu	37	1	33402701	33402701	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:33402701G>A	ENST00000373456.7	-	9	1904	c.1905C>T	c.(1903-1905)ccC>ccT	p.P635P	RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Silent_p.P634P	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	635						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTCTGCAGGGGGGATCCTCTT	0.562000													102	5					0	0	0.003610	0	0
ARMC4	55130	broad.mit.edu	37	10	28196681	28196681	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:28196681G>A	ENST00000305242.5	-	17	2613	c.2521C>T	c.(2521-2523)Cgt>Tgt	p.R841C	ARMC4_ENST00000545014.1_Missense_Mutation_p.R366C|ARMC4_ENST00000537576.1_Missense_Mutation_p.R533C	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	841							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CACAACAAACGAACTCCATCT	0.423000													23	23					0	0	0.007291	0	0
CHST1	8534	broad.mit.edu	37	11	45672072	45672072	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:45672072G>A	ENST00000308064.2	-	4	1072	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	134					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGTTCTCCAGGAAGTAGAGGT	0.697000													40	47					0	0	0.003214	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435229	18435229	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:18435229G>A	ENST00000433979.1	+	2	330	c.214G>A	c.(214-216)Gac>Aac	p.D72N	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.D72N|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.D72N|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.D72N	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	72					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACCAAAATGGGACTCAACAGG	0.413000													48	59					0	0	0.003610	0	0
OR51D1	390038	broad.mit.edu	37	11	4661092	4661092	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:4661092C>T	ENST00000357605.2	+	1	148	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCATACTTCCTTTTGGTGG	0.502000													49	60					0	0	0.003610	0	0
MAP7D2	256714	broad.mit.edu	37	X	20034406	20034406	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:20034406C>T	ENST00000379651.3	-	10	1345	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	MAP7D2_ENST00000452324.3_Missense_Mutation_p.E391K|MAP7D2_ENST00000443379.3_Missense_Mutation_p.E398K|MAP7D2_ENST00000379643.5_Missense_Mutation_p.E484K|MAP7D2_ENST00000543767.1_Missense_Mutation_p.E328K	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	443										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						cgaagcctttcctcctctgcc	0.458000													23	22					0	0	0.002780	0	0
PCCB	5096	broad.mit.edu	37	3	136035827	136035827	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:136035827C>T	ENST00000471595.1	+	10	1029	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A	PCCB_ENST00000490504.1_Silent_p.A280A|PCCB_ENST00000468777.1_Silent_p.A368A|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000482086.1_Silent_p.A221A|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000251654.4_Silent_p.A337A|PCCB_ENST00000483687.1_Silent_p.A318A|PCCB_ENST00000466072.1_Silent_p.A337A|PCCB_ENST00000462637.1_Silent_p.A314A|PCCB_ENST00000469217.1_Silent_p.A357A			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	337	Acyl-CoA binding (Potential).|Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CCAATTATGCCAAGAACATCA	0.398000													56	70					0	0	0.003610	0	0
L1CAM	3897	broad.mit.edu	37	X	153135271	153135271	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:153135271C>T	ENST00000370060.1	-	10	1299	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	L1CAM_ENST00000370057.3_Silent_p.G370G|L1CAM_ENST00000543994.1_Silent_p.G372G|L1CAM_ENST00000538883.1_Silent_p.G372G|L1CAM_ENST00000361981.3_Silent_p.G365G|L1CAM_ENST00000370055.1_Silent_p.G365G|L1CAM_ENST00000361699.4_Silent_p.G370G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	370	Ig-like C2-type 4.		G -> R (in HSAS, MASA and SPG1).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGGGATCCCGTTGATTC	0.652000													6	37					0	0	0.001984	0	0
PCSK4	54760	broad.mit.edu	37	19	1489865	1489865	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:1489865C>T	ENST00000300954.5	-	2	282	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	PCSK4_ENST00000587784.1_Intron	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	74					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCGGTGCCGCAGGTGAAA	0.692000													5	5					0	0	0.000602	0	0
ANK3	288	broad.mit.edu	37	10	61973199	61973199	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:61973199G>A	ENST00000280772.1	-	9	1158	c.967C>T	c.(967-969)Cga>Tga	p.R323*	ANK3_ENST00000503366.1_Nonsense_Mutation_p.R306*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.R317*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	323					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGGGCAGCTCGATCAAGCAAC	0.418000													29	24					0	0	0.003755	0	0
PCDH1	5097	broad.mit.edu	37	5	141248533	141248533	+	Silent	SNP	G	G	A	rs145624062		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:141248533G>A	ENST00000287008.3	-	2	651	c.504C>T	c.(502-504)ttC>ttT	p.F168F	PCDH1_ENST00000536585.1_Silent_p.F146F|PCDH1_ENST00000394536.3_Silent_p.F168F|PCDH1_ENST00000456271.1_Silent_p.F168F|PCDH1_ENST00000503492.1_Silent_p.F168F	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	168	Cadherin 1.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGTGAGGCGAAGTTGGGTG	0.552000													73	97					0	0	0.003610	0	0
GLRA2	2742	broad.mit.edu	37	X	14708921	14708921	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:14708921C>T	ENST00000218075.4	+	8	1550	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	GLRA2_ENST00000355020.4_Silent_p.F340F|GLRA2_ENST00000443437.2_Silent_p.F251F	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	340					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CGGTGAACTTCGTCTCCAGGC	0.498000													51	51					0	0	0.003610	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422257	47422257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:47422257C>T	ENST00000404338.3	+	1	325	c.325C>T	c.(325-327)Cga>Tga	p.R109*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	109					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TCAACCTCATCGAAGCACGGC	0.498000													52	68					0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100681578	100681578	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:100681578C>T	ENST00000306151.4	+	3	6945	c.6881C>T	c.(6880-6882)tCt>tTt	p.S2294F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2294	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGGCCAATTCTGAGGTTAGC	0.488000													234	137					0	0	0.003610	0	0
RREB1	6239	broad.mit.edu	37	6	7247268	7247268	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:7247268C>T	ENST00000379938.2	+	12	5122	c.4585C>T	c.(4585-4587)Ccc>Tcc	p.P1529S	RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379933.3_Missense_Mutation_p.P1474S|RREB1_ENST00000349384.6_Missense_Mutation_p.P1474S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1474					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GACGGAGGGCCCCTCCGACGG	0.677000													11	11					0	0	0.008291	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106066550	106066550	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:106066550G>A	ENST00000357242.5	+	5	855	c.681G>A	c.(679-681)gaG>gaA	p.E227E	TBC1D8B_ENST00000276175.3_Silent_p.E227E|TBC1D8B_ENST00000310452.2_Silent_p.E227E|TBC1D8B_ENST00000481617.2_Silent_p.E227E	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	227						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCCAAGGAGAGAATCACTACT	0.363000													29	53					0	0	0.002096	0	0
ZNF480	147657	broad.mit.edu	37	19	52825504	52825504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:52825504G>A	ENST00000595962.1	+	5	1067	c.1001G>A	c.(1000-1002)tGg>tAg	p.W334*	ZNF480_ENST00000335090.6_Nonsense_Mutation_p.W257*|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.W291*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GCAAATCATTGGAGAATTTAT	0.388000													26	36					0	0	0.003954	0	0
HDHD1	8226	broad.mit.edu	37	X	6968386	6968386	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:6968386G>A	ENST00000381077.5	-	4	714	c.638C>T	c.(637-639)tCc>tTc	p.S213F	HDHD1_ENST00000424830.2_Missense_Mutation_p.S236F|HDHD1_ENST00000412827.2_Missense_Mutation_p.S170F	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	213					nucleotide metabolic process		metal ion binding|phosphatase activity			breast(2)|large_intestine(1)|lung(3)	6						GTCCTGCAGGGAATTCAGCAC	0.612000													20	14					0	0	0.001882	0	0
EIF4E1B	253314	broad.mit.edu	37	5	176072429	176072429	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:176072429G>A	ENST00000318682.6	+	8	1110	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	EIF4E1B_ENST00000512734.1_3'UTR|EIF4E1B_ENST00000504597.1_Missense_Mutation_p.G176R	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	176					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGGTATGTGGGGCCGTCGT	0.617000													19	18					0	0	0.010504	0	0
ASIC2	40	broad.mit.edu	37	17	31415911	31415911	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:31415911G>A	ENST00000225823.2	-	3	1829	c.957C>T	c.(955-957)ttC>ttT	p.F319F	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Silent_p.F268F	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	268					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CAAAGGTCTGGAACCCTGGAG	0.577000													14	12					0	0	0.004007	0	0
SAG	6295	broad.mit.edu	37	2	234247329	234247329	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:234247329G>A	ENST00000409110.1	+	12	1182	c.952G>A	c.(952-954)Gag>Aag	p.E318K	SAG_ENST00000449594.2_Missense_Mutation_p.E184K	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	318					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CAGCATTAAGGAGGGCATAGA	0.567000													34	47					0	0	0.006230	0	0
PCDH18	54510	broad.mit.edu	37	4	138451460	138451460	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:138451460C>T	ENST00000344876.4	-	1	2169	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.E595K|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E375K	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	595	Cadherin 6.				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)					AAGCCACTTTCAGCCCCTTTG	0.453000													90	104					0	0	0.003610	0	0
PLD5	200150	broad.mit.edu	37	1	242271122	242271122	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:242271122C>T	ENST00000442594.2	-	9	1323	c.814G>A	c.(814-816)Gat>Aat	p.D272N	PLD5_ENST00000427495.1_Missense_Mutation_p.D302N|PLD5_ENST00000536534.1_Missense_Mutation_p.D364N	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	364						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATTTTTGCATCCAAGTCTGGC	0.348000													23	147					0	0	0.001882	0	0
FBXO40	51725	broad.mit.edu	37	3	121341303	121341303	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:121341303G>A	ENST00000338040.4	+	3	1441	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	343					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGAGGCTCAGGAAGTTAAGAC	0.473000													28	28					0	0	0.004656	0	0
FAM47C	442444	broad.mit.edu	37	X	37028690	37028690	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:37028690C>T	ENST00000358047.3	+	1	2259	c.2207C>T	c.(2206-2208)tCc>tTc	p.S736F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	736										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTGGAGTGTCCCATCTCCGC	0.637000													30	45					0	0	0.008361	0	0
FGD2	221472	broad.mit.edu	37	6	36993601	36993601	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:36993601G>A	ENST00000274963.8	+	14	1663	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	498					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.E498K(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CTACCGGGCCGAACTGAAATA	0.622000													17	59					0	0	0.007413	0	0
TRPM8	79054	broad.mit.edu	37	2	234891807	234891807	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:234891807C>T	ENST00000324695.4	+	20	2740	c.2700C>T	c.(2698-2700)ttC>ttT	p.F900F	TRPM8_ENST00000433712.2_Silent_p.F478F	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	900						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGTGGATATTCCGTTCGGTCA	0.567000													59	57					0	0	0.003610	0	0
BEND2	139105	broad.mit.edu	37	X	18219951	18219951	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:18219951G>A	ENST00000380033.4	-	6	1149	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	339										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AGGGAGGGATGAAGACAGATA	0.448000													33	45					0	0	0.004878	0	0
NUP98	4928	broad.mit.edu	37	11	3781853	3781853	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:3781853G>A	ENST00000324932.7	-	10	1510	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	NUP98_ENST00000359171.4_Silent_p.L364L|NUP98_ENST00000397007.4_Silent_p.L364L|NUP98_ENST00000397004.4_Silent_p.L364L|NUP98_ENST00000355260.3_Silent_p.L364L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	364	Gly/Thr-rich.				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			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)		TTGCCAAACAGGGTCTAAAAA	0.403000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								26	50					0	0	0.007291	0	0
CCDC68	80323	broad.mit.edu	37	18	52608288	52608288	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:52608288C>T	ENST00000591504.1	-	4	418	c.144G>A	c.(142-144)agG>agA	p.R48R	CCDC68_ENST00000337363.4_Silent_p.R48R|CCDC68_ENST00000432185.1_Silent_p.R48R	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	48										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		ACATCTGGGTCCTGATCTTTT	0.343000													19	24					0	0	0.001882	0	0
FTMT	94033	broad.mit.edu	37	5	121188309	121188309	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:121188309G>A	ENST00000321339.1	+	1	660	c.651G>A	c.(649-651)aaG>aaA	p.K217K		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	217	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		ACTTAGTGAAGATGGGGGCCC	0.507000													63	86					0	0	0.003610	0	0
INTS1	26173	broad.mit.edu	37	7	1513981	1513981	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:1513981G>A	ENST00000389470.4	-	42	6263	c.6264C>T	c.(6262-6264)atC>atT	p.I2088I	INTS1_ENST00000404767.3_Silent_p.I1884I			Q8N201	INT1_HUMAN	integrator complex subunit 1	1884					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGAGCGCCGCGATCATGGGCA	0.726000													16	33					0	0	0.004990	0	0
ZNF43	7594	broad.mit.edu	37	19	21990847	21990847	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:21990847G>A	ENST00000594012.1	-	7	2488	c.1974C>T	c.(1972-1974)acC>acT	p.T658T	ZNF43_ENST00000598381.1_Silent_p.T658T|ZNF43_ENST00000595461.1_Silent_p.T658T|ZNF43_ENST00000354959.4_Silent_p.T664T	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GTTTAGTAAGGGTTGAGGACC	0.368000													29	44					0	0	0.002836	0	0
LOC146880	146880	broad.mit.edu	37	17	62750150	62750150	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:62750150G>A	ENST00000400873.3	-	0	2207					NR_026899.1																						TGGCATCCAGGATAACCAGAA	0.378000													134	162					0	0	0.003610	0	0
MC5R	4161	broad.mit.edu	37	18	13825911	13825911	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:13825911C>T	ENST00000324750.3	+	1	369	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	49					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGGGTGTCATCAGCCTCTTGG	0.512000													15	17					0	0	0.002450	0	0
TENM2	57451	broad.mit.edu	37	5	167689721	167689721	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:167689721G>A	ENST00000519204.1	+	28	7986	c.7868G>A	c.(7867-7869)gGa>gAa	p.G2623E	TENM2_ENST00000403607.2_Missense_Mutation_p.G2568E|TENM2_ENST00000545108.1_Missense_Mutation_p.G2743E|TENM2_ENST00000518659.1_Missense_Mutation_p.G2744E|TENM2_ENST00000520394.1_Missense_Mutation_p.G2505E					teneurin transmembrane protein 2																		GGGTACGAGGGATATTACGTG	0.552000													5	8					0	0	0.000602	0	0
PROKR1	10887	broad.mit.edu	37	2	68882234	68882234	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:68882234C>T	ENST00000303786.3	+	3	1128	c.708C>T	c.(706-708)atC>atT	p.I236I	PROKR1_ENST00000394342.2_Silent_p.I236I			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	236						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCCTCTTTATCTTTGGCATAG	0.552000													45	45					0	0	0.003610	0	0
NRP1	8829	broad.mit.edu	37	10	33502610	33502610	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:33502610C>T	ENST00000265371.4	-	10	1843	c.1318G>A	c.(1318-1320)Gga>Aga	p.G440R	NRP1_ENST00000374867.2_Missense_Mutation_p.G440R|NRP1_ENST00000395995.1_Missense_Mutation_p.G440R|NRP1_ENST00000374816.3_Missense_Mutation_p.G440R|NRP1_ENST00000374821.5_Missense_Mutation_p.G440R|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374822.4_Missense_Mutation_p.G440R|NRP1_ENST00000374823.5_Missense_Mutation_p.G440R			O14786	NRP1_HUMAN	neuropilin 1	440	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GAAATAAGTCCAGACACCATA	0.458000													32	50					0	0	0.003271	0	0
FAM83B	222584	broad.mit.edu	37	6	54805839	54805839	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:54805839G>A	ENST00000306858.7	+	5	2186	c.2070G>A	c.(2068-2070)agG>agA	p.R690R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	690										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CACTTACCAGGAATCGAGTTA	0.383000													34	35					0	0	0.003755	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34033477	34033477	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:34033477G>A	ENST00000382065.3	-	3	1208	c.502C>T	c.(502-504)Cga>Tga	p.R168*	C1QTNF3_ENST00000231338.7_Nonsense_Mutation_p.R95*	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	95	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CGCTCCCCTCGAGGCCCCAGG	0.562000													32	41					0	0	0.003271	0	0
HAUS2	55142	broad.mit.edu	37	15	42858950	42858950	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:42858950A>G	ENST00000260372.3	+	6	707	c.644A>G	c.(643-645)gAt>gGt	p.D215G	HAUS2_ENST00000568876.1_Missense_Mutation_p.D184G	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	215					cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly	centrosome|cytosol|HAUS complex|microtubule|spindle				endometrium(1)|large_intestine(1)|lung(1)	3						TATAAACATGATATTATAATG	0.318000													20	19					0	0	0.008871	0	0
GRAMD2	196996	broad.mit.edu	37	15	72456035	72456035	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:72456035G>A	ENST00000309731.7	-	9	677	c.664C>T	c.(664-666)Cca>Tca	p.P222S	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	222						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						ATGTTGTCTGGGAGAGACAGG	0.537000													14	20					0	0	0.003163	0	0
PKD1	5310	broad.mit.edu	37	16	2161784	2161784	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:2161784G>A	ENST00000262304.4	-	15	3592	c.3384C>T	c.(3382-3384)tcC>tcT	p.S1128S	PKD1_ENST00000423118.1_Silent_p.S1128S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1128	PKD 5.|PKD 6.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACAGCCACGGAGGGCAGGG	0.672000													6	8					0	0	0.001168	0	0
PZP	5858	broad.mit.edu	37	12	9322148	9322148	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:9322148G>A	ENST00000261336.2	-	16	1907	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	PZP_ENST00000381997.2_Missense_Mutation_p.P496S	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.P496S(1)|p.P627S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACATTGTCAGGAAAATTGGTG	0.418000													13	30					0	0	0.001368	0	0
SLC26A11	284129	broad.mit.edu	37	17	78201712	78201712	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:78201712C>T	ENST00000361193.3	+	7	969	c.689C>T	c.(688-690)cCc>cTc	p.P230L	SLC26A11_ENST00000572725.1_Missense_Mutation_p.P230L|SLC26A11_ENST00000546047.2_Missense_Mutation_p.P230L|SLC26A11_ENST00000411502.3_Missense_Mutation_p.P230L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	230						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCCGAGATGCCCCCTGGTGTG	0.662000													12	18					0	0	0.001855	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69337307	69337307	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:69337307C>T	ENST00000305363.4	+	5	520	c.456C>T	c.(454-456)ccC>ccT	p.P152P		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	152	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CTGTAGGACCCCCTAAAGTAG	0.338000													48	72					0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	2808674	2808674	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:2808674G>A	ENST00000602557.1	-	67	10721	c.10166C>T	c.(10165-10167)aCc>aTc	p.T3389I	CSMD1_ENST00000520002.1_Missense_Mutation_p.T3389I|CSMD1_ENST00000602723.1_Missense_Mutation_p.T3212I|CSMD1_ENST00000542608.1_Missense_Mutation_p.T3211I|CSMD1_ENST00000400186.3_Missense_Mutation_p.T3212I|CSMD1_ENST00000537824.1_Missense_Mutation_p.T3388I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3389						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCGCTGAAGGTGGCATTCAC	0.453000													16	18					0	0	0.004007	0	0
SLIT3	6586	broad.mit.edu	37	5	168098390	168098390	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:168098390C>T	ENST00000519560.1	-	34	4359	c.3940G>A	c.(3940-3942)Gag>Aag	p.E1314K	SLIT3_ENST00000404867.3_Missense_Mutation_p.E1314K|SLIT3_ENST00000332966.8_Missense_Mutation_p.E1321K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1314	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTGCAGCTCGTTGTTGATG	0.662000													12	14					0	0	0.003163	0	0
SCG2	7857	broad.mit.edu	37	2	224462720	224462720	+	Silent	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:224462720T>G	ENST00000305409.2	-	2	1513	c.1281A>C	c.(1279-1281)ctA>ctC	p.L427L		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	427					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCCCGTCTGGTAGGGCCTCAG	0.473000													32	32					0	0	0.003271	0	0
SPAM1	6677	broad.mit.edu	37	7	123593796	123593796	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:123593796G>A	ENST00000340011.5	+	3	529	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	SPAM1_ENST00000223028.7_Missense_Mutation_p.E58K|SPAM1_ENST00000402183.2_Missense_Mutation_p.E58K|SPAM1_ENST00000439500.1_Missense_Mutation_p.E58K|SPAM1_ENST00000460182.1_Missense_Mutation_p.E58K	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	58					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TGCCCCAAGTGAATTTTGTCT	0.448000													29	25					0	0	0.009535	0	0
RET	5979	broad.mit.edu	37	10	43596097	43596097	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:43596097C>T	ENST00000355710.3	+	2	496	c.264C>T	c.(262-264)atC>atT	p.I88I	RET_ENST00000340058.5_Silent_p.I88I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	88					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GGATCTGCATCCAGGAGGACA	0.647000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				6	6					0	0	0.001168	0	0
C6	729	broad.mit.edu	37	5	41199975	41199975	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:41199975C>T	ENST00000263413.3	-	4	604	c.340G>A	c.(340-342)Gga>Aga	p.G114R	C6_ENST00000337836.5_Missense_Mutation_p.G114R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	114	TSP type-1 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CATGGCTGTCCCCCAAACTGA	0.448000													13	18					0	0	0.001368	0	0
NXF4	55999	broad.mit.edu	37	X	101817561	101817561	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:101817561G>A	ENST00000360035.2	+	0	487					NR_002216.1															endometrium(2)|lung(8)	10						ATAAGAGTTGGATAGTGAATT	0.433000													6	9					0	0	0.001984	0	0
TRIM21	6737	broad.mit.edu	37	11	4406957	4406957	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:4406957G>A	ENST00000254436.7	-	7	1098	c.986C>T	c.(985-987)cCt>cTt	p.P329L	TRIM21_ENST00000543625.1_Missense_Mutation_p.P329L	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	329	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CAGGACCATAGGATAACTATC	0.507000													5	4					0	0	0.001168	0	0
CSMD3	114788	broad.mit.edu	37	8	113316962	113316962	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:113316962G>A	ENST00000297405.5	-	52	8498	c.8254C>T	c.(8254-8256)Cca>Tca	p.P2752S	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2712S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2682S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2752	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGCAATATGGTCTTTCATTT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	29					0	0	0.002780	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459824	107459824	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:107459824G>A	ENST00000409382.3	-	2	1220	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	ST6GAL2_ENST00000361686.4_Silent_p.L204L|ST6GAL2_ENST00000409087.3_Silent_p.L204L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	204					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGCCGGTACAGGAAGGCCCTG	0.622000													20	13					0	0	0.010504	0	0
VCAN	1462	broad.mit.edu	37	5	82833076	82833076	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:82833076C>T	ENST00000265077.3	+	8	4819	c.4254C>T	c.(4252-4254)acC>acT	p.T1418T	VCAN_ENST00000343200.5_Silent_p.T431T|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1418	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATCTCGTTACCACTGTGCCCA	0.468000													30	17					0	0	0.002836	0	0
LDB3	11155	broad.mit.edu	37	10	88476342	88476342	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:88476342C>T	ENST00000429277.2	+	10	1650	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	LDB3_ENST00000458213.2_Missense_Mutation_p.S387F|LDB3_ENST00000263066.6_Missense_Mutation_p.S387F|LDB3_ENST00000361373.4_Missense_Mutation_p.S497F|LDB3_ENST00000352360.5_Missense_Mutation_p.S240F	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	497						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GATAGCTTCTCCCAGAAGTTT	0.667000													36	57					0	0	0.006999	0	0
SCN2A	6326	broad.mit.edu	37	2	166245378	166245378	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:166245378G>A	ENST00000375437.2	+	27	5352	c.5062G>A	c.(5062-5064)Gaa>Aaa	p.E1688K	SCN2A_ENST00000375427.2_Missense_Mutation_p.E1688K|SCN2A_ENST00000357398.3_Missense_Mutation_p.E1688K|SCN2A_ENST00000283256.6_Missense_Mutation_p.E1688K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1688					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)	TGTTAAGAGGGAAGTTGGGAT	0.468000													76	92					0	0	0.003610	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48253490	48253490	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:48253490C>T	ENST00000246802.5	+	3	383	c.345C>T	c.(343-345)ccC>ccT	p.P115P	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	115						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		TCAAGAAACCCCTTCGGGTTG	0.532000													16	19					0	0	0.007413	0	0
MROH2B	133558	broad.mit.edu	37	5	41004526	41004526	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:41004526G>A	ENST00000399564.4	-	37	4566	c.4116C>T	c.(4114-4116)atC>atT	p.I1372I	MROH2B_ENST00000506092.2_Silent_p.I927I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCAGCTCCAGGATTTTTTTTA	0.438000													51	52					0	0	0.003610	0	0
TDRD6	221400	broad.mit.edu	37	6	46660568	46660568	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:46660568C>A	ENST00000544460.1	+	1	4957	c.4703C>A	c.(4702-4704)cCt>cAt	p.P1568H	TDRD6_ENST00000316081.6_Missense_Mutation_p.P1568H	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1568	Tudor 7.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ATCCCATGTCCTTATATTGGA	0.383000													18	37					2.4624e-09	4.33744e-09	0.008871	1	0
BRK1	55845	broad.mit.edu	37	3	10157502	10157502	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:10157502C>T	ENST00000530758.1	+	1	227	c.118_splice	c.e1+1	p.F39_splice	BRK1_ENST00000256463.6_Splice_Site_p.F39_splice	NM_018462.4	NP_060932.2	Q8WUW1	BRK1_HUMAN	BRICK1, SCAR/WAVE actin-nucleating complex subunit	39						cytoplasm|cytoskeleton				breast(1)|skin(1)	2						TCAACTCGTTCGGTCAGCGGG	0.612000													23	19					0	0	0.003330	0	0
DMD	1756	broad.mit.edu	37	X	31645819	31645819	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:31645819C>T	ENST00000357033.4	-	55	8394	c.8188G>A	c.(8188-8190)Gga>Aga	p.G2730R	DMD_ENST00000359836.1_Missense_Mutation_p.G270R|DMD_ENST00000378707.3_Missense_Mutation_p.G270R|DMD_ENST00000343523.2_Missense_Mutation_p.G270R|DMD_ENST00000541735.1_Missense_Mutation_p.G270R|DMD_ENST00000474231.1_Missense_Mutation_p.G270R|DMD_ENST00000378677.2_Missense_Mutation_p.G2726R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2730					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTTTACTCCCTTGGAGTCT	0.443000													9	25					0	0	0.000978	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72498703	72498703	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:72498703G>A	ENST00000373208.1	+	11	1714	c.1714G>A	c.(1714-1716)Ggg>Agg	p.G572R	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.G569R	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	569	TSP type-1 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GCGGTCATGTGGGGGCGGGGT	0.647000													16	17					0	0	0.004990	0	0
FBXL13	222235	broad.mit.edu	37	7	102669159	102669159	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:102669159G>A	ENST00000393772.2	-	4	531	c.105C>T	c.(103-105)gtC>gtT	p.V35V	FBXL13_ENST00000313221.4_Silent_p.V35V|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000379305.3_Silent_p.V35V|FBXL13_ENST00000379306.3_Silent_p.V35V|FBXL13_ENST00000456695.1_Silent_p.V35V|FBXL13_ENST00000455112.2_Silent_p.V35V|FBXL13_ENST00000436908.1_Silent_p.V35V|FBXL13_ENST00000379308.3_Silent_p.V35V			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	35										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CAGCCAGGACGACATTTTCAT	0.343000													46	34					0	0	0.003610	0	0
EVI5L	115704	broad.mit.edu	37	19	7911465	7911465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:7911465C>T	ENST00000270530.4	+	2	233	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	EVI5L_ENST00000538904.2_Nonsense_Mutation_p.Q13*	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	13						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CTCCTCATCCCAGGAGGCCCT	0.652000													21	17					0	0	0.002780	0	0
ZNF285	26974	broad.mit.edu	37	19	44890960	44890960	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:44890960G>A	ENST00000330997.4	-	4	1511	c.1447C>T	c.(1447-1449)Cca>Tca	p.P483S	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.P490S|ZNF285_ENST00000544719.2_Missense_Mutation_p.P483S	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CATTTATATGGTTTTTCTCCA	0.383000													35	36					0	0	0.002836	0	0
C7orf62	219557	broad.mit.edu	37	7	88423732	88423732	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:88423732G>A	ENST00000297203.2	-	2	710	c.525C>T	c.(523-525)ctC>ctT	p.L175L	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	175										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAGTTTGTGTGAGAAAATCTG	0.423000													44	95					0	0	0.003610	0	0
SSPO	23145	broad.mit.edu	37	7	149493701	149493701	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:149493701C>T	ENST00000378016.2	+	0	6697							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCGGCACCTCTGTGCCCAGG	0.657000													11	18					0	0	0.008291	0	0
ZNF624	57547	broad.mit.edu	37	17	16526300	16526300	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:16526300G>A	ENST00000311331.7	-	6	1991	c.1900C>T	c.(1900-1902)Cat>Tat	p.H634Y		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ACTCCAGTATGAATTTTCTGA	0.388000													62	96					0	0	0.003610	0	0
ATAD5	79915	broad.mit.edu	37	17	29170935	29170935	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:29170935C>T	ENST00000321990.4	+	5	2624	c.2246C>T	c.(2245-2247)tCt>tTt	p.S749F	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	749					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCTTAGGATTCTGTTATAATA	0.264000													35	25					0	0	0.002836	0	0
UGT2B4	7363	broad.mit.edu	37	4	70350973	70350973	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:70350973C>T	ENST00000305107.6	-	5	1309	c.1263G>A	c.(1261-1263)tcG>tcA	p.S421S	UGT2B4_ENST00000512583.1_Intron|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Silent_p.S285S	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	421					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AGTCTGTACTCGACATTGTGT	0.418000													60	80					0	0	0.003610	0	0
C5AR1	728	broad.mit.edu	37	19	47823646	47823646	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:47823646C>T	ENST00000355085.3	+	2	634	c.612C>T	c.(610-612)atC>atT	p.I204I		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	204					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CCGTGGCCATCGTCCGGCTGG	0.627000													41	69					0	0	0.003610	0	0
SARDH	1757	broad.mit.edu	37	9	136584143	136584143	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:136584143G>A	ENST00000371872.4	-	7	1194	c.937C>T	c.(937-939)Cat>Tat	p.H313Y	SARDH_ENST00000422262.2_Missense_Mutation_p.H145Y|SARDH_ENST00000439388.1_Missense_Mutation_p.H313Y|SARDH_ENST00000371867.1_Missense_Mutation_p.H224Y	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	313					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GAGGCATCATGATCACGGACA	0.597000													25	5					0	0	0.002096	0	0
NLRP14	338323	broad.mit.edu	37	11	7091629	7091629	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:7091629G>C	ENST00000299481.4	+	11	3434	c.3088G>C	c.(3088-3090)Gga>Cga	p.G1030R		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1030					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGGATATGAAGGAATTGTGAA	0.383000													18	35					0	0	0.004990	0	0
RNF114	55905	broad.mit.edu	37	20	48562680	48562680	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:48562680C>T	ENST00000244061.2	+	4	408	c.406C>T	c.(406-408)Cca>Tca	p.P136S		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	136					cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						CAGGAATGTTCCAAACCGTTA	0.408000													19	18					0	0	0.002299	0	0
ARID2	196528	broad.mit.edu	37	12	46244715	46244715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:46244715C>T	ENST00000334344.6	+	15	2981	c.2809C>T	c.(2809-2811)Caa>Taa	p.Q937*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q788*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q547*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	937	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCAACAAGGTCAAACTTATGC	0.468000			"""N, S, F"""		hepatocellular carcinoma								52	72					0	0	0.003610	0	0
OR4M2	390538	broad.mit.edu	37	15	22369074	22369074	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:22369074C>T	ENST00000332663.2	+	1	597	c.499C>T	c.(499-501)Cct>Tct	p.P167S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167A(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTTCGACTTCCTTTCTGTGG	0.493000													76	134					0	0	0.003610	0	0
MED12L	116931	broad.mit.edu	37	3	150877703	150877703	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:150877703G>A	ENST00000474524.1	+	7	960	c.922G>A	c.(922-924)Gat>Aat	p.D308N	MED12L_ENST00000422248.2_Missense_Mutation_p.D308N|MED12L_ENST00000309237.4_Missense_Mutation_p.D308N|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	308					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGCTGAGCGATAGCCCCAA	0.577000													64	83					0	0	0.003610	0	0
ADH4	127	broad.mit.edu	37	4	100052668	100052668	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:100052668C>T	ENST00000508393.1	-	7	1052	c.887G>A	c.(886-888)gGa>gAa	p.G296E	ADH4_ENST00000423445.1_Missense_Mutation_p.G296E|ADH4_ENST00000505590.1_Missense_Mutation_p.G296E|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Missense_Mutation_p.G277E			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	277					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GGTTTCAGATCCACCTGCACA	0.383000													16	23					0	0	0.004990	0	0
CDH23	64072	broad.mit.edu	37	10	73437276	73437276	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:73437276C>T	ENST00000224721.6	+	15	1598	c.1593C>T	c.(1591-1593)atC>atT	p.I531I	CDH23_ENST00000299366.7_Silent_p.I571I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	526	Cadherin 5.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATGAGCTCATCCAGCGCTTCA	0.602000													4	11					0	0	0.000602	0	0
DNAH17	8632	broad.mit.edu	37	17	76475680	76475680	+	Missense_Mutation	SNP	C	C	T	rs61744345		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:76475680C>T	ENST00000389840.5	-	50	7869	c.7745G>A	c.(7744-7746)gGc>gAc	p.G2582D	DNAH17_ENST00000585328.1_Missense_Mutation_p.G2591D|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGCCTCCTGGCCGGGGAAGCT	0.607000													34	46					0	0	0.004289	0	0
CLCA4	22802	broad.mit.edu	37	1	87043678	87043678	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:87043678G>A	ENST00000370563.3	+	12	2087	c.2045G>A	c.(2044-2046)gGa>gAa	p.G682E	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	682						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CGGGCTCATGGAGGAGCAAAC	0.433000													24	3					0	0	0.003954	0	0
POTEH	23784	broad.mit.edu	37	22	16287490	16287490	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:16287490C>T	ENST00000343518.6	-	1	447	c.396G>A	c.(394-396)agG>agA	p.R132R		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	132										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCATCTTGCTCCTGAGTGTCT	0.612000													62	249					0	0	0.003610	0	0
R3HDML	140902	broad.mit.edu	37	20	42965979	42965979	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:42965979G>A	ENST00000217043.2	+	1	354	c.182G>A	c.(181-183)aGa>aAa	p.R61K		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	61						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			ATCTCTGTGAGAGACATGAAT	0.617000													21	26					0	0	0.002299	0	0
OGDHL	55753	broad.mit.edu	37	10	50947747	50947747	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:50947747T>A	ENST00000374103.4	-	17	2364	c.2279A>T	c.(2278-2280)aAt>aTt	p.N760I	OGDHL_ENST00000432695.1_Missense_Mutation_p.N551I|OGDHL_ENST00000419399.1_Missense_Mutation_p.N703I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	760					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CACAATGCCATTATGCCGCAC	0.642000													17	27					0	0	0.010504	0	0
TFG	10342	broad.mit.edu	37	3	100438853	100438853	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:100438853C>T	ENST00000240851.4	+	3	559	c.219C>T	c.(217-219)gaC>gaT	p.D73D	TFG_ENST00000490574.1_Silent_p.D73D|TFG_ENST00000418917.2_Silent_p.D73D|TFG_ENST00000476228.1_Silent_p.D73D	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	73					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						ATAGTTCTGACCTTTCCTTTG	0.249000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								27	49					0	0	0.008361	0	0
DUOX1	53905	broad.mit.edu	37	15	45433598	45433598	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:45433598C>T	ENST00000321429.4	+	15	2081	c.1674C>T	c.(1672-1674)gtC>gtT	p.V558V	DUOX1_ENST00000561166.1_Silent_p.V204V|DUOX1_ENST00000389037.3_Silent_p.V558V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	558	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ATGTCTTTGTCTGGCATAAAG	0.552000													20	44					0	0	0.004656	0	0
TENM2	57451	broad.mit.edu	37	5	167617455	167617455	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:167617455G>A	ENST00000519204.1	+	13	2438	c.2320G>A	c.(2320-2322)Gat>Aat	p.D774N	TENM2_ENST00000403607.2_Missense_Mutation_p.D719N|TENM2_ENST00000545108.1_Missense_Mutation_p.D895N|TENM2_ENST00000518659.1_Missense_Mutation_p.D895N|TENM2_ENST00000520394.1_Missense_Mutation_p.D663N					teneurin transmembrane protein 2																		GGGCCAGACGGATTGGCCCGC	0.572000													11	11					0	0	0.002450	0	0
KLKB1	3818	broad.mit.edu	37	4	187158058	187158058	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:187158058C>T	ENST00000264690.6	+	5	639	c.452C>T	c.(451-453)tCa>tTa	p.S151L	KLKB1_ENST00000513864.1_Missense_Mutation_p.S151L	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	151	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CAGTTTTTTTCATATGCCACG	0.413000													25	32					0	0	0.005443	0	0
OR52J3	119679	broad.mit.edu	37	11	5068617	5068617	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5068617C>T	ENST00000380370.1	+	1	862	c.862C>T	c.(862-864)Ctc>Ttc	p.L288F		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCACCCTCTCTCAACCCCAT	0.388000													35	35					0	0	0.003755	0	0
SEMA4D	10507	broad.mit.edu	37	9	92002362	92002362	+	Silent	SNP	G	G	A	rs146117514		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:92002362G>A	ENST00000450295.1	-	12	2045	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	SEMA4D_ENST00000339861.4_Silent_p.I423I|SEMA4D_ENST00000356444.2_Silent_p.I423I|SEMA4D_ENST00000420987.1_Silent_p.I423I|SEMA4D_ENST00000455551.2_Silent_p.I423I|SEMA4D_ENST00000422704.2_Silent_p.I423I|SEMA4D_ENST00000438547.2_Silent_p.I423I|SEMA4D_ENST00000343780.4_Silent_p.I423I			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	423	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GGTCCACCACGATCTGGGTGT	0.532000													29	4					0	0	0.008361	0	0
PLCD1	5333	broad.mit.edu	37	3	38051222	38051222	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:38051222G>A	ENST00000463876.1	-	9	1784	c.1431C>T	c.(1429-1431)gcC>gcT	p.A477A	PLCD1_ENST00000334661.4_Silent_p.A456A	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	456					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ACACCACAGTGGCCTCAGGGC	0.637000													16	14					0	0	0.007413	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795202	142795202	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:142795202C>T	ENST00000370498.1	-	2	1229	c.476G>A	c.(475-477)gGa>gAa	p.G159E		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	159										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGAAGATCCTTCAGGTGG	0.502000													455	294					0	0	0.003610	0	0
MALAT1	378938	broad.mit.edu	37	11	65268805	65268805	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:65268805C>T	ENST00000534336.1	+	0	3573					NR_002819.2																						ACAAGAAAATCCAATATCAGG	0.413000													12	18					0	0	0.001855	0	0
ELFN2	114794	broad.mit.edu	37	22	37769772	37769772	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:37769772G>A	ENST00000402918.1	-	3	2588	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	ELFN2_ENST00000349653.3_Silent_p.F601F|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	601						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GAGGCGAAAGGAAGCTGGGCC	0.706000													6	4					0	0	0.001984	0	0
WISP1	8840	broad.mit.edu	37	8	134225127	134225127	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:134225127G>A	ENST00000250160.6	+	2	196	c.90G>A	c.(88-90)acG>acA	p.T30T	WISP1_ENST00000220856.6_Silent_p.T30T|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000517423.1_Silent_p.T30T|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	30					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CAGCCCCTACGACCATGGACT	0.657000													7	10					0	0	0.003080	0	0
APBB1	322	broad.mit.edu	37	11	6424402	6424402	+	Silent	SNP	G	G	A	rs146910788		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:6424402G>A	ENST00000389906.2	-	6	1176	c.1077C>T	c.(1075-1077)ccC>ccT	p.P359P	APBB1_ENST00000533407.1_Silent_p.P100P|APBB1_ENST00000530885.1_Silent_p.P139P|APBB1_ENST00000299402.6_Silent_p.P359P|APBB1_ENST00000311051.3_Silent_p.P359P	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	359					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TATTCCGTGGGGGAAGCTTCT	0.547000													34	52					0	0	0.004289	0	0
C12orf42	374470	broad.mit.edu	37	12	103696160	103696160	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:103696160C>T	ENST00000548048.1	-	9	1104	c.608G>A	c.(607-609)gGa>gAa	p.G203E	C12orf42_ENST00000378113.2_Missense_Mutation_p.G270E|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.G270E			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	270										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GACGGGATTTCCGGACGCGCC	0.662000													19	28					0	0	0.002299	0	0
PSME4	23198	broad.mit.edu	37	2	54161830	54161830	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:54161830G>A	ENST00000404125.1	-	8	924	c.869C>T	c.(868-870)cCa>cTa	p.P290L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	290					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTTCCCACTGGGAGGTTCAA	0.323000													20	25					0	0	0.008871	0	0
FAM135B	51059	broad.mit.edu	37	8	139163757	139163757	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:139163757G>A	ENST00000395297.1	-	13	3131	c.2961C>T	c.(2959-2961)ccC>ccT	p.P987P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	987										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGGTCACAGTGGGGCACACAG	0.488000										HNSCC(54;0.14)			31	40					0	0	0.008361	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664584	5664584	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5664584C>T	ENST00000354852.5	+	14	2347	c.2174C>T	c.(2173-2175)tCc>tTc	p.S725F	HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Missense_Mutation_p.S371F|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.S371F|TRIM34_ENST00000514226.1_Missense_Mutation_p.S371F|TRIM34_ENST00000495668.1_3'UTR	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		725						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AGAACATATTCCCGCCATATG	0.423000													23	23					0	0	0.001882	0	0
CTNND2	1501	broad.mit.edu	37	5	11397206	11397206	+	Silent	SNP	G	G	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:11397206G>T	ENST00000304623.8	-	6	738	c.549C>A	c.(547-549)acC>acA	p.T183T	CTNND2_ENST00000359640.2_Silent_p.T183T|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.T92T|CTNND2_ENST00000503622.1_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	183					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGAAGGGGTGGTTTCCCCCA	0.597000													28	37					6.32553e-13	1.11524e-12	0.004656	1	0
SH3TC1	54436	broad.mit.edu	37	4	8229215	8229215	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:8229215C>T	ENST00000539824.1	+	12	1940	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	SH3TC1_ENST00000245105.3_Silent_p.F598F			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	598							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGGACCTGTTCCTAGTGGTGG	0.642000													79	4					0	0	0.003610	0	0
TRANK1	9881	broad.mit.edu	37	3	36872803	36872803	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:36872803C>T	ENST00000429976.2	-	21	8386	c.8139G>A	c.(8137-8139)ggG>ggA	p.G2713G	TRANK1_ENST00000428977.2_Silent_p.G2163G|TRANK1_ENST00000301807.6_Silent_p.G2163G			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2713					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTTTGAAGTTCCCAGCCCTGG	0.582000													11	11					0	0	0.000978	0	0
DEFB119	245932	broad.mit.edu	37	20	29965206	29965206	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:29965206C>T	ENST00000376321.3	-	2	217	c.98G>A	c.(97-99)gGa>gAa	p.G33E	DEFB119_ENST00000339144.3_3'UTR|DEFB119_ENST00000492344.1_5'UTR	NM_153289.2	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	33					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCTACAAATTCCACTGTTACC	0.428000													48	60					0	0	0.003610	0	0
MMP14	4323	broad.mit.edu	37	14	23313662	23313662	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:23313662C>G	ENST00000311852.6	+	7	1355	c.1094C>G	c.(1093-1095)cCt>cGt	p.P365R	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	365	Hemopexin-like 1.					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CGGGGCCTGCCTGCGTCCATC	0.557000													63	87					0	0	0.003610	0	0
SCG2	7857	broad.mit.edu	37	2	224463493	224463493	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:224463493A>G	ENST00000305409.2	-	2	740	c.508T>C	c.(508-510)Tat>Cat	p.Y170H		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	170					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTCTCTTCATACATAGGAGGG	0.403000													49	76					0	0	0.003610	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216380	20216380	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:20216380G>A	ENST00000331723.1	+	1	794	c.794G>A	c.(793-795)aGc>aAc	p.S265N		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTTTCTGCAGCTTCTCTGTG	0.453000													57	134					0	0	0.003610	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673385	141673385	+	Silent	SNP	G	G	A	rs144536521		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:141673385G>A	ENST00000547270.1	-	1	188	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	35					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CCAAGAAAACGAAGGCATTGG	0.483000													33	53					0	0	0.004289	0	0
FAM131B	9715	broad.mit.edu	37	7	143056116	143056116	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:143056116C>T	ENST00000409408.1	-	4	1894	c.184_splice	c.e4-1	p.G62_splice	FAM131B_ENST00000409578.1_Splice_Site_p.G78_splice|FAM131B_ENST00000409346.1_Splice_Site_p.G62_splice|FAM131B_ENST00000443739.2_Splice_Site_p.G90_splice|FAM131B_ENST00000409222.3_Splice_Site_p.G62_splice			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	62										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TCCGTGAGATCCCTATGGGGC	0.587000													6	12					0	0	0.001984	0	0
ABHD1	84696	broad.mit.edu	37	2	27352206	27352206	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:27352206G>A	ENST00000316470.4	+	4	595	c.481G>A	c.(481-483)Ggc>Agc	p.G161S		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	161						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAACAACCGGGGCTGCCGTGG	0.577000													18	27					0	0	0.010504	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983291	140983291	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:140983291G>A	ENST00000298296.1	+	6	1069	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	MAGEC3_ENST00000448920.1_3'UTR|MAGEC3_ENST00000544766.1_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000483584.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	357	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGACAGGAAGATGGCCG	0.592000													32	11					0	0	0.002445	0	0
NOS1	4842	broad.mit.edu	37	12	117696239	117696239	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	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													25	34					0	0	0.004656	0	0
COL4A3	1285	broad.mit.edu	37	2	228135599	228135599	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:228135599G>A	ENST00000396578.3	+	25	1851	c.1689G>A	c.(1687-1689)ggG>ggA	p.G563G	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	563	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GCCAACCTGGGAGAAAGGGCT	0.537000													17	30					0	0	0.006122	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791299	15791299	+	Silent	SNP	G	G	A	rs141478890		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:15791299G>A	ENST00000550308.1	+	5	875	c.495G>A	c.(493-495)acG>acA	p.T165T	CYP4F12_ENST00000324632.9_Silent_p.T165T	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.T165T(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCTATATAACGATCTTCAACA	0.537000													14	32					0	0	0.003163	0	0
MYH6	4624	broad.mit.edu	37	14	23870036	23870036	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:23870036G>T	ENST00000405093.3	-	13	1362	c.1292C>A	c.(1291-1293)gCa>gAa	p.A431E	MYH6_ENST00000356287.3_Missense_Mutation_p.A431E	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	431	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCATACACTGCCTTGGCCAG	0.582000													39	50					2.66277e-13	4.69679e-13	0.006999	1	0
ADCY1	107	broad.mit.edu	37	7	45719389	45719389	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:45719389C>T	ENST00000297323.7	+	11	2002	c.1980C>T	c.(1978-1980)gtC>gtT	p.V660V		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	660					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCACCCGGGTCCAGGTATGTG	0.552000													23	42					0	0	0.005443	0	0
CDH6	1004	broad.mit.edu	37	5	31323152	31323152	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:31323152C>T	ENST00000265071.2	+	12	2375	c.2110C>T	c.(2110-2112)Cca>Tca	p.P704S		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	704					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						CCGACGGACTCCAACAGCTCG	0.522000													22	31					0	0	0.001882	0	0
TNFSF18	8995	broad.mit.edu	37	1	173010752	173010752	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:173010752T>A	ENST00000404377.3	-	3	355	c.355A>T	c.(355-357)Att>Ttt	p.I119F	RP1-15D23.2_ENST00000432694.1_RNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.I97F	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	119					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TGGCCATAAATTAAATATAAG	0.403000													248	7					0	0	0.003610	0	0
TEX14	56155	broad.mit.edu	37	17	56688526	56688526	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:56688526C>T	ENST00000389934.3	-	10	1297	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	TEX14_ENST00000349033.5_Missense_Mutation_p.E394K|TEX14_ENST00000240361.8_Missense_Mutation_p.E400K	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	400	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCCACCTTTCCAACATGTAC	0.527000													63	86					0	0	0.003610	0	0
GHSR	2693	broad.mit.edu	37	3	172165940	172165940	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:172165940G>A	ENST00000241256.2	-	1	306	c.264C>T	c.(262-264)tcC>tcT	p.S88S	GHSR_ENST00000427970.1_Silent_p.S88S	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	88					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TGAGCAGATCGGAGAAGGCCA	0.617000													19	28					0	0	0.001882	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540261	169540261	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:169540261C>T	ENST00000340806.6	+	1	552	c.552C>T	c.(550-552)ctC>ctT	p.L184L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	184										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CCCAGGAGCTCTGTGTTCTCT	0.493000													42	47					0	0	0.006999	0	0
VPS54	51542	broad.mit.edu	37	2	64208941	64208941	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:64208941G>A	ENST00000272322.4	-	3	371	c.217C>T	c.(217-219)Ctc>Ttc	p.L73F	VPS54_ENST00000409558.3_Missense_Mutation_p.L61F	NM_016516.2	NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	73					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GCTGCTGGGAGATTTACTTTG	0.378000													56	60					0	0	0.003610	0	0
OR5I1	10798	broad.mit.edu	37	11	55703736	55703736	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:55703736C>T	ENST00000301532.3	-	1	140	c.141G>A	c.(139-141)ttG>ttA	p.L47L		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCAACAGCATCAATCCAATGT	0.388000													12	14					0	0	0.001855	0	0
IPO7	10527	broad.mit.edu	37	11	9446716	9446716	+	Silent	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:9446716T>C	ENST00000379719.3	+	12	1384	c.1242T>C	c.(1240-1242)ttT>ttC	p.F414F		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	414					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CTATGGGATTTTGTTACCAGA	0.358000													38	56					0	0	0.007835	0	0
OR2F2	135948	broad.mit.edu	37	7	143632354	143632354	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:143632354G>A	ENST00000408955.2	+	1	96	c.29G>A	c.(28-30)aGa>aAa	p.R10K		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ACGTGGGTGAGAGAATTTATT	0.393000													61	60					0	0	0.003610	0	0
PLCL2	23228	broad.mit.edu	37	3	17053137	17053137	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:17053137C>T	ENST00000418129.2	+	2	2386	c.1921C>T	c.(1921-1923)Ccc>Tcc	p.P641S	PLCL2_ENST00000432376.1_Missense_Mutation_p.P641S|PLCL2_ENST00000396755.2_Missense_Mutation_p.P641S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	767	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCAGAACTTTCCCAAGCCCAA	0.468000													14	7					0	0	0.004990	0	0
HTRA3	94031	broad.mit.edu	37	4	8294051	8294051	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:8294051G>A	ENST00000307358.2	+	5	1111	c.907G>A	c.(907-909)Ggg>Agg	p.G303R	HTRA3_ENST00000382512.3_Missense_Mutation_p.G303R	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	303	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CTTGCAGTACGGGAACTCCGG	0.572000													15	31					0	0	0.002450	0	0
ABCA8	10351	broad.mit.edu	37	17	66902293	66902293	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:66902293C>T	ENST00000269080.2	-	17	2307	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N	ABCA8_ENST00000586539.1_Missense_Mutation_p.D764N|ABCA8_ENST00000430352.2_Missense_Mutation_p.D764N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	724						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CTATCAAGATCCTTGTAAAGT	0.313000													38	49					0	0	0.009718	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844768	18844768	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:18844768G>A	ENST00000412938.1	+	0	3018																											GCCTCTGAGGGCAGCAGTGCA	0.562000													3	10					0	0	0.009096	0	0
ABCD3	5825	broad.mit.edu	37	1	94982685	94982685	+	Nonstop_Mutation	SNP	G	G	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:94982685G>C	ENST00000370214.4	+	23	2004	c.1980G>C	c.(1978-1980)taG>taC	p.*660Y	ABCD3_ENST00000394233.2_Nonstop_Mutation_p.*550Y|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Nonstop_Mutation_p.*684Y|ABCD3_ENST00000536817.1_Nonstop_Mutation_p.*587Y	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	0					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTGGCTCTTAGAGAAATCTGG	0.343000													82	5					0	0	0.003610	0	0
MYOM2	9172	broad.mit.edu	37	8	2040179	2040179	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:2040179C>T	ENST00000262113.4	+	16	1975	c.1834C>T	c.(1834-1836)Cct>Tct	p.P612S	MYOM2_ENST00000523438.1_Missense_Mutation_p.P37S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	612	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAAAGTTGTCCCTTCTGCTCC	0.547000													101	119					0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21628935	21628935	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:21628935G>A	ENST00000328843.6	+	12	2114	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	DNAH11_ENST00000409508.3_Missense_Mutation_p.D695N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	695	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						AAGTAATGTGGATGAAATCTG	0.338000									Kartagener syndrome				93	96					0	0	0.003610	0	0
DRD1	1812	broad.mit.edu	37	5	174869875	174869875	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:174869875C>T	ENST00000393752.2	-	2	1220	c.228G>A	c.(226-228)ctG>ctA	p.L76L		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	76					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AGGGCATGACCAGGACGGCCA	0.552000													15	19					0	0	0.002450	0	0
AMER1	139285	broad.mit.edu	37	X	63412503	63412503	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:63412503G>A	ENST00000330258.3	-	2	936	c.664C>T	c.(664-666)Caa>Taa	p.Q222*	AMER1_ENST00000403336.1_Nonsense_Mutation_p.Q222*|AMER1_ENST00000374869.3_Nonsense_Mutation_p.Q222*	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CTAGGGGCTTGGAAGGTCTCC	0.577000													28	31					0	0	0.008361	0	0
GREM2	64388	broad.mit.edu	37	1	240656347	240656347	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:240656347G>A	ENST00000318160.4	-	2	695	c.429C>T	c.(427-429)ccC>ccT	p.P143P		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	143	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TGAGTCGGAAGGGTGGGTCCA	0.637000													107	1					0	0	0.003610	0	0
MAP2K5	5607	broad.mit.edu	37	15	68040913	68040913	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:68040913C>T	ENST00000178640.5	+	19	1735	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	MAP2K5_ENST00000340972.4_Nonsense_Mutation_p.Q180*|MAP2K5_ENST00000354498.5_Nonsense_Mutation_p.Q334*|MAP2K5_ENST00000395476.2_Nonsense_Mutation_p.Q360*	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	370	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GCAGCCTCTCCAGCTTCTGCA	0.373000													26	35					0	0	0.007291	0	0
FRAS1	80144	broad.mit.edu	37	4	79369266	79369266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:79369266C>T	ENST00000264895.6	+	44	6510	c.6070C>T	c.(6070-6072)Cag>Tag	p.Q2024*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2023					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGTTTTAGTCCAGGGCTCAAC	0.502000													11	11					0	0	0.000978	0	0
KMT2D	8085	broad.mit.edu	37	12	49433379	49433379	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:49433379G>A	ENST00000301067.7	-	32	8067	c.8068C>T	c.(8068-8070)Ctg>Ttg	p.L2690L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGCCGAATCAGCAGCTCTCGT	0.572000													12	10					0	0	0.001855	0	0
NUP160	23279	broad.mit.edu	37	11	47833673	47833673	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:47833673G>A	ENST00000378460.2	-	17	2230	c.2184C>T	c.(2182-2184)ttC>ttT	p.F728F	NUP160_ENST00000530326.1_Silent_p.F614F|NUP160_ENST00000528501.1_3'UTR|NUP160_ENST00000528071.1_Silent_p.F614F	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	728					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TGCAGATCAGGAAACGAGTAC	0.418000													17	20					0	0	0.006122	0	0
OS9	10956	broad.mit.edu	37	12	58111979	58111979	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:58111979C>T	ENST00000315970.7	+	11	1226	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V	OS9_ENST00000389146.6_Silent_p.V395V|OS9_ENST00000552285.1_Silent_p.V395V|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000435406.2_Silent_p.V343V|OS9_ENST00000413095.2_Silent_p.V189V|OS9_ENST00000389142.5_Silent_p.V395V|OS9_ENST00000257966.8_Silent_p.V396V|OS9_ENST00000551035.1_Silent_p.V363V|OS9_ENST00000439210.2_Silent_p.V336V	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	395					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CTGCAGAAGTCCCTCAGAGGG	0.532000													16	17					0	0	0.004007	0	0
POTEE	445582	broad.mit.edu	37	2	131976230	131976230	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:131976230C>T	ENST00000356920.5	+	1	349	c.255C>T	c.(253-255)gaC>gaT	p.D85D	POTEE_ENST00000358087.5_Silent_p.D85D|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	85							ATP binding										CTTCTGGAGACCACGACGACT	0.607000													39	57					0	0	0.003610	0	0
TLL1	7092	broad.mit.edu	37	4	166929157	166929157	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:166929157G>A	ENST00000061240.2	+	7	1521	c.874G>A	c.(874-876)Gat>Aat	p.D292N	TLL1_ENST00000513213.1_Missense_Mutation_p.D292N|TLL1_ENST00000507499.1_Missense_Mutation_p.D292N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	292	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGAAAGATATGATTTCGACAG	0.408000													22	41					0	0	0.003330	0	0
GRIA1	2890	broad.mit.edu	37	5	153190778	153190778	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:153190778G>A	ENST00000285900.5	+	16	3057	c.2714G>A	c.(2713-2715)gGa>gAa	p.G905E	GRIA1_ENST00000518142.1_Missense_Mutation_p.G825E|GRIA1_ENST00000448073.4_Missense_Mutation_p.G915E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G915E|GRIA1_ENST00000521843.2_Missense_Mutation_p.G836E|GRIA1_ENST00000340592.5_Missense_Mutation_p.G905E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	905					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGAGCCACGGGATTGTAACTG	0.557000													13	8					0	0	0.002450	0	0
SCAND3	114821	broad.mit.edu	37	6	28541304	28541304	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:28541304T>C	ENST00000452236.2	-	4	2979	c.2362A>G	c.(2362-2364)Agt>Ggt	p.S788G		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	788					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ggttgtgaacttatttcttta	0.328000													24	44					0	0	0.002780	0	0
PRR4	11272	broad.mit.edu	37	12	10999761	10999761	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:10999761G>A	ENST00000540107.1	-	3	170	c.133C>T	c.(133-135)Ctc>Ttc	p.L45F	PRR4_ENST00000544994.1_Intron|PRR4_ENST00000228811.4_Silent_p.L102L|PRR4_ENST00000536668.1_5'UTR			Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	0	Pro-rich.				visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						GGGGTAGAGAGAGTTGACGGT	0.552000													51	62					0	0	0.003610	0	0
PCSK9	255738	broad.mit.edu	37	1	55512301	55512301	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:55512301G>A	ENST00000302118.5	+	3	795	c.505G>A	c.(505-507)Gat>Aat	p.D169N	PCSK9_ENST00000543384.1_Intron|PCSK9_ENST00000452118.2_Missense_Mutation_p.D169N	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	169	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTACCGGGCGGATGAATACCA	0.622000													185	15					0	0	0.003610	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755352	140755352	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140755352C>T	ENST00000517434.1	+	1	1702	c.1702C>T	c.(1702-1704)Ccc>Tcc	p.P568S	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCGCCCTCCCCACAGACGG	0.657000													66	94					0	0	0.003610	0	0
FBXO10	26267	broad.mit.edu	37	9	37537215	37537215	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:37537215G>A	ENST00000432825.2	-	3	1359	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	437						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TCCCGTCCCGGAAGAGGCACT	0.587000													21	22					0	0	0.010504	0	0
CETN2	1069	broad.mit.edu	37	X	151997145	151997145	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:151997145G>A	ENST00000370277.3	-	4	431	c.365C>T	c.(364-366)tCg>tTg	p.S122L	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	122	EF-hand 3.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTTTGAACGAAATCTTCCC	0.398000								Direct reversal of damage;Nucleotide excision repair (NER)					81	51					0	0	0.003610	0	0
CHD5	26038	broad.mit.edu	37	1	6188268	6188268	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:6188268C>T	ENST00000262450.3	-	25	3840	c.3741G>A	c.(3739-3741)aaG>aaA	p.K1247K	CHD5_ENST00000378021.1_Silent_p.K104K	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1247					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTCCACGTCCTTGTTGTCAC	0.587000													37	3					0	0	0.003214	0	0
ZXDB	158586	broad.mit.edu	37	X	57619480	57619480	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:57619480C>T	ENST00000374888.1	+	1	1212	c.999C>T	c.(997-999)ccC>ccT	p.P333P		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	333	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						AACTGCGGCCCTTTGGCTGCC	0.597000													19	13					0	0	0.008871	0	0
FXYD7	53822	broad.mit.edu	37	19	35642295	35642295	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:35642295C>T	ENST00000588265.1	+	3	255	c.200C>T	c.(199-201)tCc>tTc	p.S67F	FXYD7_ENST00000270310.2_Intron|FXYD7_ENST00000586063.1_Intron			P58549	FXYD7_HUMAN	FXYD domain containing ion transport regulator 7	46						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TCATCCATATCCTACCCGCTA	0.552000													25	32					0	0	0.002780	0	0
ZNF711	7552	broad.mit.edu	37	X	84526400	84526400	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:84526400C>T	ENST00000360700.4	+	10	2876	c.1990C>T	c.(1990-1992)Cct>Tct	p.P664S	ZNF711_ENST00000395402.1_Missense_Mutation_p.P626S|ZNF711_ENST00000542798.1_Missense_Mutation_p.P460S|ZNF711_ENST00000276123.3_Missense_Mutation_p.P618S|ZNF711_ENST00000373165.3_Missense_Mutation_p.P618S			Q9Y462	ZN711_HUMAN	zinc finger protein 711	618					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TAAGGATTTTCCTCACAAATG	0.423000													13	16					0	0	0.001855	0	0
FOXN4	121643	broad.mit.edu	37	12	109723114	109723114	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:109723114T>C	ENST00000299162.5	-	8	1000	c.896A>G	c.(895-897)aAc>aGc	p.N299S	FOXN4_ENST00000355216.1_Missense_Mutation_p.N119S	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	299					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						CTCACCAGGGTTGGCCATACT	0.617000													3	7					0	0	0.009096	0	0
TNN	63923	broad.mit.edu	37	1	175046622	175046622	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:175046622C>T	ENST00000239462.4	+	2	181	c.68C>T	c.(67-69)tCg>tTg	p.S23L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	23					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.S23L(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGGTGGCTTCGGCCCCAGCC	0.592000													100	4					0	0	0.003610	0	0
DCDC1	341019	broad.mit.edu	37	11	31115658	31115658	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:31115658C>T	ENST00000597505.1	-	14	2056	c.2057G>A	c.(2056-2058)aGc>aAc	p.S686N	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	98					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTGACTCCTGCTGCTTGCTTC	0.478000													38	44					0	0	0.004878	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86569381	86569381	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:86569381G>A	ENST00000450689.2	-	6	977	c.792C>T	c.(790-792)atC>atT	p.I264I	KIAA1324L_ENST00000297222.6_Silent_p.I24I|KIAA1324L_ENST00000416314.1_Silent_p.I97I|KIAA1324L_ENST00000444627.1_Silent_p.I264I	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	264						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AACCCATAAGGATGCCTGTAG	0.408000													71	36					0	0	0.003610	0	0
SORBS2	8470	broad.mit.edu	37	4	186545032	186545032	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:186545032G>A	ENST00000431808.1	-	14	2102	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	SORBS2_ENST00000355634.5_Silent_p.F613F|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Silent_p.F513F|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Silent_p.F417F|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	513						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCAGCTTTTCGAATTCGGAGA	0.572000													45	48					0	0	0.003610	0	0
TTC31	64427	broad.mit.edu	37	2	74719542	74719542	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:74719542C>T	ENST00000233623.5	+	11	1138	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	377							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GGGGCCTCTTCCGCCTGGGCA	0.617000													30	26					0	0	0.002096	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912826	94912826	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:94912826G>A	ENST00000334708.3	-	3	823	c.759C>T	c.(757-759)ttC>ttT	p.F253F	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	253					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGTCATAGAGGAATCTGTGCA	0.517000													51	50					0	0	0.003610	0	0
SPON1	10418	broad.mit.edu	37	11	14284316	14284316	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:14284316G>A	ENST00000310358.7	+	0	2590							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGTCATGTGGGAAAGGCCACG	0.532000													16	11					0	0	0.003163	0	0
COL4A4	1286	broad.mit.edu	37	2	227915872	227915872	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:227915872C>T	ENST00000396625.3	-	33	3178	c.2971G>A	c.(2971-2973)Gat>Aat	p.D991N	COL4A4_ENST00000329662.7_Missense_Mutation_p.D991N	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	991	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTTCCTTTATCACCTGATGAA	0.493000													36	37					0	0	0.003755	0	0
MYBPC3	4607	broad.mit.edu	37	11	47364144	47364144	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:47364144C>T	ENST00000545968.1	-	17	1663	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	MYBPC3_ENST00000256993.4_Missense_Mutation_p.E536K|MYBPC3_ENST00000399249.2_Missense_Mutation_p.E537K	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	536	Ig-like C2-type 3.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ACAATGAGCTCAGCCAGCGCC	0.652000													12	5					0	0	0.000978	0	0
SEPT14	346288	broad.mit.edu	37	7	55914298	55914298	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:55914298C>T	ENST00000388975.3	-	3	203	c.87G>A	c.(85-87)acG>acA	p.T29T	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	29					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AATGTCCAATCGTAGTTAAAC	0.299000													95	39					0	0	0.003610	0	0
RRP7A	27341	broad.mit.edu	37	22	42912127	42912127	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:42912127G>A	ENST00000323013.6	-	3	247	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F		NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	78	RRM.						nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GTGGACAGGAGGCGGGACAGG	0.622000													15	30					0	0	0.004007	0	0
PRPF40B	25766	broad.mit.edu	37	12	50031265	50031265	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:50031265G>A	ENST00000261897.1	+	16	2040	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	PRPF40B_ENST00000380281.1_Missense_Mutation_p.E503K|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E525K			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	503	FF 2.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CTTCCTGGACGAGCTGCATGA	0.582000											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	15					0	0	0.008871	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256445	24256445	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:24256445G>A	ENST00000538205.1	+	10	1131	c.584G>A	c.(583-585)gGg>gAg	p.G195E	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.G274E|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G195E	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	274					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TGGTCTGATGGGGATAAGATA	0.443000													20	41					0	0	0.001882	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089079	43089079	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:43089079G>A	ENST00000359467.3	-	5	1433	c.1319C>T	c.(1318-1320)cCc>cTc	p.P440L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	440						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ACATTCATAGGGTTTCTGCCC	0.408000													40	28					0	0	0.006999	0	0
NFKB1	4790	broad.mit.edu	37	4	103534712	103534712	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:103534712C>T	ENST00000226574.4	+	23	3190	c.2723C>T	c.(2722-2724)tCg>tTg	p.S908L	NFKB1_ENST00000600343.1_Missense_Mutation_p.S727L|NFKB1_ENST00000394820.4_Missense_Mutation_p.S907L|NFKB1_ENST00000505458.1_Missense_Mutation_p.S907L	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	907	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	CTGCCTCTCTCGCCTGCCTCC	0.527000													15	18					0	0	0.007413	0	0
CFTR	1080	broad.mit.edu	37	7	117232512	117232512	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:117232512G>A	ENST00000003084.6	+	14	2423	c.2291G>A	c.(2290-2292)cGa>cAa	p.R764Q	CFTR_ENST00000454343.1_Missense_Mutation_p.R703Q	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	764					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTTCAGGCACGAAGGAGGCAG	0.532000									Cystic Fibrosis				11	22					0	0	0.008291	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100231438	100231438	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:100231438G>A	ENST00000231461.5	-	2	475	c.165C>T	c.(163-165)atC>atT	p.I55I	ST8SIA4_ENST00000451528.2_Silent_p.I55I	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	55					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CCTTTCGAATGATTTTATCAG	0.378000													23	27					0	0	0.002780	0	0
COL28A1	340267	broad.mit.edu	37	7	7571074	7571074	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:7571074C>T	ENST00000399429.3	-	3	726	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	196	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGTTTGGCTTCATTGACTACC	0.398000													40	23					0	0	0.006230	0	0
FAM9A	171482	broad.mit.edu	37	X	8768129	8768129	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:8768129C>T	ENST00000543214.1	-	2	219	c.84G>A	c.(82-84)acG>acA	p.T28T	FAM9A_ENST00000381003.3_Silent_p.T28T	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	28						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CACCTTCTTTCGTGGCCCCCT	0.642000													10	14					0	0	0.004007	0	0
ZAK	51776	broad.mit.edu	37	2	174085957	174085957	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:174085957T>A	ENST00000338983.3	+	12	1262	c.1067T>A	c.(1066-1068)aTg>aAg	p.M356K	MLTK_ENST00000539448.1_Missense_Mutation_p.M356K|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000431503.2_Missense_Mutation_p.M255K|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000375213.3_Intron	NM_133646.2	NP_598407.1																					AGTGCAGAGATGTCATGTCAG	0.468000													29	35					0	0	0.005443	0	0
LRBA	987	broad.mit.edu	37	4	151247031	151247031	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:151247031C>T	ENST00000535741.1	-	49	7855	c.7382G>A	c.(7381-7383)cGa>cAa	p.R2461Q	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Missense_Mutation_p.R2472Q|LRBA_ENST00000507224.1_Missense_Mutation_p.R2461Q|LRBA_ENST00000510413.1_Missense_Mutation_p.R2461Q			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2472	BEACH.					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)					TCCAAAACTTCGGATTTGAGC	0.453000													9	13					0	0	0.008291	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881742	108881742	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:108881742G>A	ENST00000329106.2	+	7	850	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	284						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCAAAATGAAGAATTTGACAA	0.473000													43	53					0	0	0.003610	0	0
PKHD1	5314	broad.mit.edu	37	6	51524449	51524449	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:51524449G>A	ENST00000371117.3	-	61	10750	c.10475C>T	c.(10474-10476)tCc>tTc	p.S3492F		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3492					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGAAGCTTGGAGGTACTTTT	0.443000													26	24					0	0	0.004656	0	0
CSMD1	64478	broad.mit.edu	37	8	3141826	3141826	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:3141826G>A	ENST00000602557.1	-	27	4551	c.3996C>T	c.(3994-3996)atC>atT	p.I1332I	CSMD1_ENST00000539096.1_Silent_p.I1331I|CSMD1_ENST00000520002.1_Silent_p.I1332I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.I1332I|CSMD1_ENST00000542608.1_Silent_p.I1331I|CSMD1_ENST00000400186.3_Silent_p.I1332I|CSMD1_ENST00000537824.1_Silent_p.I1331I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1332	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGACCTTGAGGATGTCGTGAG	0.567000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	18					0	0	0.002780	0	0
CXCR1	3577	broad.mit.edu	37	2	219028987	219028987	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:219028987G>A	ENST00000295683.2	-	2	1068	c.948C>T	c.(946-948)ttC>ttT	p.F316F		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	316					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GGATCTTGAGGAATCCATGGC	0.527000													44	48					0	0	0.002522	0	0
SYBU	55638	broad.mit.edu	37	8	110598301	110598301	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:110598301G>A	ENST00000399066.3	-	3	1236	c.509C>T	c.(508-510)tCt>tTt	p.S170F	SYBU_ENST00000446070.2_Missense_Mutation_p.S172F|SYBU_ENST00000529690.1_Missense_Mutation_p.S43F|SYBU_ENST00000528647.1_Missense_Mutation_p.S172F|SYBU_ENST00000422135.1_Missense_Mutation_p.S173F|SYBU_ENST00000424158.2_Missense_Mutation_p.S178F|SYBU_ENST00000440310.1_Missense_Mutation_p.S173F|SYBU_ENST00000533895.1_Missense_Mutation_p.S172F|SYBU_ENST00000433638.1_Missense_Mutation_p.S173F|SYBU_ENST00000419099.1_Missense_Mutation_p.S172F|SYBU_ENST00000408908.2_Missense_Mutation_p.S173F|SYBU_ENST00000533171.1_Missense_Mutation_p.S173F|SYBU_ENST00000528331.1_Missense_Mutation_p.S54F|SYBU_ENST00000533065.1_Missense_Mutation_p.S54F|SYBU_ENST00000408889.3_Missense_Mutation_p.S54F|SYBU_ENST00000532779.1_Missense_Mutation_p.S105F|SYBU_ENST00000276646.9_Missense_Mutation_p.S173F	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	173	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GCGTGAAGAAGAAGACCGCTT	0.507000													5	5					0	0	0.001984	0	0
LEFTY1	10637	broad.mit.edu	37	1	226076643	226076643	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:226076643T>G	ENST00000272134.5	-	1	203	c.124A>C	c.(124-126)Acc>Ccc	p.T42P	RP4-559A3.7_ENST00000432920.2_Intron|LEFTY1_ENST00000492457.1_Intron	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	42					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CTGTCCAGGGTGGGCACCTCT	0.731000													17	1					0	0	0.002299	0	0
MATN2	4147	broad.mit.edu	37	8	99019805	99019805	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:99019805C>T	ENST00000254898.5	+	10	1780	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C	MATN2_ENST00000524308.1_Missense_Mutation_p.R476C|MATN2_ENST00000522025.2_Missense_Mutation_p.R233C|MATN2_ENST00000521689.1_Missense_Mutation_p.R517C|MATN2_ENST00000520016.1_Missense_Mutation_p.R517C	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	517	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ACACGTGCTCCGCAGCGATGG	0.567000													28	37					0	0	0.005443	0	0
FGD2	221472	broad.mit.edu	37	6	36982788	36982788	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:36982788G>A	ENST00000274963.8	+	8	1174	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	335	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCGCCGCAACGACCCCATGGA	0.622000													10	34					0	0	0.006214	0	0
APBA1	320	broad.mit.edu	37	9	72131823	72131823	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:72131823C>T	ENST00000265381.4	-	2	526	c.304G>A	c.(304-306)Gac>Aac	p.D102N		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	102					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCGTAGCCGTCGCGGGCCGCG	0.716000													5	0					0	0	0.001984	0	0
KLF8	11279	broad.mit.edu	37	X	56310850	56310850	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:56310850C>T	ENST00000468660.1	+	6	1291	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	KLF8_ENST00000374928.3_3'UTR	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CAAGCCTTTTCGGTGCACAGA	0.547000													15	19					0	0	0.004007	0	0
MLST8	64223	broad.mit.edu	37	16	2258788	2258788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:2258788G>A	ENST00000569417.1	+	9	1245	c.891G>A	c.(889-891)tgG>tgA	p.W297*	MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000564088.1_Nonsense_Mutation_p.W297*|MLST8_ENST00000565250.1_Nonsense_Mutation_p.W297*|MLST8_ENST00000301724.10_3'UTR|MLST8_ENST00000382450.4_Nonsense_Mutation_p.W296*|MLST8_ENST00000397124.1_Nonsense_Mutation_p.W297*	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	297					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CCCGGCTCTGGTGTGTGGAGA	0.627000													81	87					0	0	0.003610	0	0
FAT2	2196	broad.mit.edu	37	5	150923472	150923472	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:150923472G>A	ENST00000261800.5	-	9	7228	c.7216C>T	c.(7216-7218)Cct>Tct	p.P2406S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2406	Cadherin 21.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCTGTCAGGGTCAATAGCC	0.478000													23	35					0	0	0.002780	0	0
TRBC2	28638	broad.mit.edu	37	7	142498870	142498870	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:142498870G>A	ENST00000466254.1	+	0	146																											GGGTGAATGGGAAGGAGGTGC	0.622000													14	93					0	0	0.010504	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362198	49362198	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:49362198G>A	ENST00000263265.6	-	8	1446	c.891C>T	c.(889-891)ccC>ccT	p.P297P	PLEKHA4_ENST00000355496.5_Silent_p.P297P|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	297	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTCCTCGGCGGGGAGTAGGGG	0.662000													21	31					0	0	0.001882	0	0
IL4	3565	broad.mit.edu	37	5	132018273	132018273	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:132018273G>A	ENST00000231449.2	+	4	521	c.456G>A	c.(454-456)tcG>tcA	p.S152S	IL4_ENST00000350025.2_Silent_p.S136S	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	152					B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CAAAGTGTTCGAGCTGAATAT	0.299000													16	18					0	0	0.004990	0	0
ZNF831	128611	broad.mit.edu	37	20	57766581	57766581	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:57766581G>A	ENST00000371030.2	+	1	507	c.507G>A	c.(505-507)gaG>gaA	p.E169E		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	169						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACACGGGTGAGAGGCCCTTCC	0.612000													35	65					0	0	0.004878	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089707	113089707	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:113089707C>T	ENST00000409871.1	+	12	3613	c.3212C>T	c.(3211-3213)tCa>tTa	p.S1071L	ZC3H6_ENST00000343936.4_Missense_Mutation_p.S1071L	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1071							nucleic acid binding|zinc ion binding	p.S1071L(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GGAGAAAACTCAAAGAACCAG	0.433000													9	16					0	0	0.006214	0	0
TP63	8626	broad.mit.edu	37	3	189612186	189612186	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:189612186C>T	ENST00000264731.3	+	14	2027	c.1938C>T	c.(1936-1938)ctC>ctT	p.L646L	TP63_ENST00000382063.4_Silent_p.L561L|TP63_ENST00000449992.1_Silent_p.L467L|TP63_ENST00000354600.5_Silent_p.L552L|TP63_ENST00000440651.2_Silent_p.L642L|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000456148.1_Silent_p.L548L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	646	Transactivation inhibition.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GATTCACCCTCCGCCAGACCA	0.562000										HNSCC(45;0.13)			41	51					0	0	0.006999	0	0
OR10A7	121364	broad.mit.edu	37	12	55615027	55615027	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:55615027C>T	ENST00000326258.1	+	1	219	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						AAGTATGTTTCACCTTGGTTA	0.408000													70	81					0	0	0.003610	0	0
TRAT1	50852	broad.mit.edu	37	3	108572665	108572665	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:108572665C>T	ENST00000295756.6	+	6	732	c.502C>T	c.(502-504)Cat>Tat	p.H168Y	TRAT1_ENST00000426646.1_Missense_Mutation_p.H131Y	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	168					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GGAAAACATTCATGATGATCC	0.438000													40	45					0	0	0.006230	0	0
OR8S1	341568	broad.mit.edu	37	12	48919622	48919622	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:48919622G>A	ENST00000310194.1	+	1	208	c.208G>A	c.(208-210)Gat>Aat	p.D70N	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CTCTTTTGTTGATCTCTGCTT	0.478000													64	45					0	0	0.003610	0	0
RNASE8	122665	broad.mit.edu	37	14	21526300	21526300	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:21526300G>T	ENST00000308227.2	+	1	320	c.249G>T	c.(247-249)caG>caT	p.Q83H	NDRG2_ENST00000403829.3_Intron	NM_138331.1	NP_612204.1	Q8TDE3	RNAS8_HUMAN	ribonuclease, RNase A family, 8	83						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)		TCACCTGCCAGACCCCCAACA	0.547000													25	47					1.04121e-07	1.83157e-07	0.005443	1	0
CBFA2T2	9139	broad.mit.edu	37	20	32194867	32194867	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:32194867C>T	ENST00000346541.3	+	3	704	c.167C>T	c.(166-168)cCt>cTt	p.P56L	CBFA2T2_ENST00000397798.2_Missense_Mutation_p.P27L|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.P56L|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.P27L|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.P27L|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.P66L|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.P47L	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	56	Pro-rich.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CCAATAAATCCTGGAGGACCG	0.512000													31	33					0	0	0.003755	0	0
HMGN5	79366	broad.mit.edu	37	X	80370690	80370690	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:80370690C>T	ENST00000358130.2	-	7	635	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	103					chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleolus	chromatin binding|DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						TCAATATTTTCTTCTTTTACT	0.348000													10	8					0	0	0.008291	0	0
OR5B17	219965	broad.mit.edu	37	11	58126218	58126218	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:58126218C>T	ENST00000357377.3	-	1	324	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGTAATTTTCCACAGTGGCA	0.473000													24	20					0	0	0.003330	0	0
ITGB5	3693	broad.mit.edu	37	3	124538682	124538682	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:124538682C>T	ENST00000296181.4	-	7	1239		c.e7-1		ITGB5_ENST00000488466.1_Intron	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5						cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		ATGGATAGTCCTAGGGCCAAG	0.468000													36	63					0	0	0.005524	0	0
SELP	6403	broad.mit.edu	37	1	169576202	169576202	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:169576202G>A	ENST00000263686.6	-	9	1541	c.1504C>T	c.(1504-1506)Cct>Tct	p.P502S	SELP_ENST00000367792.2_Missense_Mutation_p.P440S|SELP_ENST00000367786.2_Missense_Mutation_p.P440S|SELP_ENST00000458599.2_Missense_Mutation_p.P440S|SELP_ENST00000367788.2_Missense_Mutation_p.P440S|SELP_ENST00000367794.2_Missense_Mutation_p.P440S|SELP_ENST00000367793.2_Missense_Mutation_p.P440S|SELP_ENST00000367791.2_Missense_Mutation_p.P378S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	502	Sushi 5.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CATTCTGGAGGAACAGAATTC	0.433000													137	4					0	0	0.003610	0	0
SLC28A2	9153	broad.mit.edu	37	15	45554216	45554216	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:45554216G>A	ENST00000347644.3	+	4	239	c.174G>A	c.(172-174)agG>agA	p.R58R	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	58					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TTATTAGGAGGAGTCGGTGGC	0.403000													48	84					0	0	0.003610	0	0
TSPAN6	7105	broad.mit.edu	37	X	99885846	99885846	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:99885846G>A	ENST00000373020.4	-	7	798	c.687C>T	c.(685-687)ctC>ctT	p.L229L		NM_003270.2	NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	229					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						GGCAGTAGGCGAGAAAGATTC	0.378000													12	19					0	0	0.003163	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911037	230911037	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:230911037C>T	ENST00000295190.4	-	4	1263	c.805G>A	c.(805-807)Gat>Aat	p.D269N		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	269						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CCGGCCTGATCGGGGCACTCC	0.577000													47	58					0	0	0.003610	0	0
MAP3K15	389840	broad.mit.edu	37	X	19482481	19482481	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:19482481G>A	ENST00000338883.4	-	4	568	c.569C>T	c.(568-570)cCg>cTg	p.P190L	MAP3K15_ENST00000469203.2_Missense_Mutation_p.P22L|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	190							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ATCAGCGCACGGTGTCACGAT	0.483000													15	12					0	0	0.003163	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141959	133141959	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:133141959C>T	ENST00000388996.4	-	15	2589	c.2169G>A	c.(2167-2169)ggG>ggA	p.G723G	KCNQ3_ENST00000521134.1_Silent_p.G603G|KCNQ3_ENST00000519445.1_Silent_p.G711G	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	723					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AACTGGGTCCCCCTCGGGGCA	0.577000													19	19					0	0	0.007413	0	0
GDPD5	81544	broad.mit.edu	37	11	75153561	75153561	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:75153561G>A	ENST00000526177.1	-	8	2478	c.600C>T	c.(598-600)tcC>tcT	p.S200S	GDPD5_ENST00000376282.3_Silent_p.S219S|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000336898.3_Silent_p.S338S|GDPD5_ENST00000533784.1_Silent_p.S219S|GDPD5_ENST00000533805.1_Silent_p.S93S|GDPD5_ENST00000529721.1_Silent_p.S338S			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	338					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GGCTGCAGATGGACTGGTTCT	0.642000													12	19					0	0	0.002450	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38808425	38808425	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:38808425C>T	ENST00000420274.1	+	6	637	c.403C>T	c.(403-405)Cct>Tct	p.P135S	PLEKHA2_ENST00000521746.1_Missense_Mutation_p.P135S|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	135					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			CTTAGCAGCTCCTCCAGCCCT	0.577000													18	24					0	0	0.006122	0	0
CACNA1D	776	broad.mit.edu	37	3	53844187	53844187	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:53844187C>T	ENST00000288139.3	+	48	6232	c.6114C>T	c.(6112-6114)tcC>tcT	p.S2038S	CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000350061.5_Silent_p.S2018S|CACNA1D_ENST00000422281.2_Silent_p.S1994S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2018					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCCTGCCGTCCCTGCACCGCA	0.627000													12	13					0	0	0.001368	0	0
FMR1NB	158521	broad.mit.edu	37	X	147088275	147088275	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:147088275C>T	ENST00000370467.3	+	3	525	c.451C>T	c.(451-453)Ctt>Ttt	p.L151F		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	151	P-type.					integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCAAGATCTTAGTGAGAG	0.378000													69	146					0	0	0.003610	0	0
LIMK2	3985	broad.mit.edu	37	22	31669485	31669485	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:31669485C>G	ENST00000331728.4	+	14	1720	c.1606C>G	c.(1606-1608)Ctc>Gtc	p.L536V	LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000444929.2_Missense_Mutation_p.L290V|LIMK2_ENST00000406516.1_Missense_Mutation_p.L458V|LIMK2_ENST00000340552.4_Missense_Mutation_p.L515V|LIMK2_ENST00000333611.4_Missense_Mutation_p.L515V	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	536	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TGGGATCGTTCTCTGTGAGGT	0.547000											OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	22					0	0	0.002445	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209875	65209875	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:65209875C>T	ENST00000247226.7	+	15	3254	c.2946C>T	c.(2944-2946)ccC>ccT	p.P982P	PLEKHG3_ENST00000484731.2_Silent_p.P543P|PLEKHG3_ENST00000471182.2_Silent_p.P571P|PLEKHG3_ENST00000394691.1_Silent_p.P1038P|PLEKHG3_ENST00000492928.1_Intron	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1038					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCCGGAGCCCCCTCAGCCCCA	0.701000													43	53					0	0	0.003610	0	0
RNF219	79596	broad.mit.edu	37	13	79189831	79189831	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:79189831G>A	ENST00000282003.6	-	6	2123	c.2065C>T	c.(2065-2067)Cct>Tct	p.P689S	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	689	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTAGACCAAGGAGACTGAAGG	0.398000													49	55					0	0	0.003610	0	0
ADAM29	11086	broad.mit.edu	37	4	175898264	175898264	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:175898264C>T	ENST00000359240.3	+	5	2258	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	ADAM29_ENST00000404450.4_Missense_Mutation_p.R530C|ADAM29_ENST00000445694.1_Missense_Mutation_p.R530C|ADAM29_ENST00000514159.1_Missense_Mutation_p.R530C	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	530	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTTAGGTGACCGTGTTGGTCA	0.418000													26	38					0	0	0.004656	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68784714	68784714	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:68784714C>T	ENST00000508048.1	-	8	961	c.926G>A	c.(925-927)gGa>gAa	p.G309E	TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.G313E|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.G310E			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	313	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TGCTCCAAATCCTGTGATGTG	0.458000													52	58					0	0	0.003610	0	0
EPHA2	1969	broad.mit.edu	37	1	16474942	16474942	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:16474942C>T	ENST00000358432.5	-	3	908	c.754G>A	c.(754-756)Gag>Aag	p.E252K	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	252	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACCAGCCACTCGCCATCCACT	0.652000													58	3					0	0	0.003610	0	0
CHRNA5	1138	broad.mit.edu	37	15	78873233	78873233	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:78873233C>T	ENST00000299565.5	+	2	387	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C	CHRNA5_ENST00000559554.1_Missense_Mutation_p.R63C	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	63					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						AAGATGGGTTCGTCCTGTGGA	0.328000													29	28					0	0	0.007291	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600130	3600130	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:3600130A>T	ENST00000375190.4	-	2	896	c.503T>A	c.(502-504)cTg>cAg	p.L168Q	TBXA2R_ENST00000411851.3_Missense_Mutation_p.L168Q|TBXA2R_ENST00000589966.1_Intron|TBXA2R_ENST00000587717.1_5'UTR	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	168					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CACGCCCAGCAGGGGCAGCAG	0.761000													7	9					0	0	0.001984	0	0
SCN5A	6331	broad.mit.edu	37	3	38592955	38592955	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:38592955C>T	ENST00000413689.1	-	28	5101	c.4908G>A	c.(4906-4908)ctG>ctA	p.L1636L	SCN5A_ENST00000455624.2_Silent_p.L1603L|SCN5A_ENST00000451551.2_Silent_p.L1582L|SCN5A_ENST00000450102.2_Silent_p.L1582L|SCN5A_ENST00000449557.2_Silent_p.L1582L|SCN5A_ENST00000443581.1_Silent_p.L1635L|SCN5A_ENST00000423572.2_Silent_p.L1635L|SCN5A_ENST00000414099.2_Silent_p.L1618L|SCN5A_ENST00000425664.1_Silent_p.L1618L|SCN5A_ENST00000333535.4_Silent_p.L1636L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1636					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCCCTCGGATCAGTCTGAGGA	0.597000													40	44					0	0	0.007835	0	0
ARL9	132946	broad.mit.edu	37	4	57389937	57389937	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:57389937G>A	ENST00000360096.2	+	4	581	c.267G>A	c.(265-267)aaG>aaA	p.K89K		NM_206919.1	NP_996802.1	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	153							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					ATGACAGGAAGATGTTCTTGT	0.448000													30	18					0	0	0.009535	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618034	156618034	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:156618034G>A	ENST00000296518.7	+	3	224	c.15G>A	c.(13-15)aaG>aaA	p.K5K	GUCY1A3_ENST00000515602.1_Intron|GUCY1A3_ENST00000511507.1_Silent_p.K5K|GUCY1A3_ENST00000513574.1_Silent_p.K5K|GUCY1A3_ENST00000455639.2_Silent_p.K5K|GUCY1A3_ENST00000511108.1_Silent_p.K5K|GUCY1A3_ENST00000393832.3_Intron|GUCY1A3_ENST00000506455.1_Silent_p.K5K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	5					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCTGCACGAAGCTCAAGGATC	0.488000													14	18					0	0	0.004007	0	0
KCND2	3751	broad.mit.edu	37	7	119915232	119915232	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:119915232G>A	ENST00000331113.4	+	1	1511	c.546G>A	c.(544-546)acG>acA	p.T182T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	182					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ACACCAGCACGATGGCCCTGG	0.602000													35	20					0	0	0.002836	0	0
C2orf70	339778	broad.mit.edu	37	2	26802166	26802166	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:26802166C>T	ENST00000409392.1	+	5	530	c.428C>T	c.(427-429)tCc>tTc	p.S143F	C2orf70_ENST00000329615.3_Missense_Mutation_p.P156S			A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	161										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						CCCTAGGCCTCCTCTGTGCCC	0.582000													17	33					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179606092	179606092	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179606092G>A	ENST00000589042.1	-	48	12092	c.11868C>T	c.(11866-11868)atC>atT	p.I3956I	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Silent_p.I3639I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.I3785I|TTN_ENST00000460472.2_Silent_p.I3593I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Silent_p.I3718I|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3639							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)			TGTACTCAAAGATGGCAGGAA	0.463000													77	86					0	0	0.003610	0	0
TAF1	6872	broad.mit.edu	37	X	70586246	70586246	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:70586246G>A	ENST00000449580.1	+	1	133	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	TAF1_ENST00000423759.1_Missense_Mutation_p.E28K|TAF1_ENST00000276072.3_Missense_Mutation_p.E28K|TAF1_ENST00000373790.4_Missense_Mutation_p.E28K			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	28	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGACAGCGACGAAGATTCCGC	0.562000													40	43					0	0	0.002522	0	0
LRFN2	57497	broad.mit.edu	37	6	40400569	40400569	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:40400569G>A	ENST00000338305.6	-	2	826	c.284C>T	c.(283-285)tCc>tTc	p.S95F		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	95						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTCCAGAAAGGAAAAGGGCTG	0.602000													15	33					0	0	0.004007	0	0
KCTD19	146212	broad.mit.edu	37	16	67327805	67327805	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:67327805C>T	ENST00000304372.5	-	12	1915	c.1860G>A	c.(1858-1860)caG>caA	p.Q620Q		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	620						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TTTCAGATTTCTGTGTGAGGT	0.522000													46	74					0	0	0.009718	0	0
MFN1	55669	broad.mit.edu	37	3	179096428	179096428	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:179096428C>T	ENST00000471841.1	+	14	1614	c.1488C>T	c.(1486-1488)atC>atT	p.I496I	MFN1_ENST00000263969.5_Silent_p.I496I|MFN1_ENST00000280653.7_Intron	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	496					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATACACTGATCCCTTGCAAGA	0.328000													17	14					0	0	0.008871	0	0
COL2A1	1280	broad.mit.edu	37	12	48374376	48374376	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:48374376G>A	ENST00000380518.3	-	39	2750	c.2586C>T	c.(2584-2586)gcC>gcT	p.A862A	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.A793A	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	862	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GAGGACCAGGGGCACCAGCAT	0.622000													3	8					0	0	0.000602	0	0
PLCB3	5331	broad.mit.edu	37	11	64026159	64026159	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:64026159C>T	ENST00000540288.1	+	11	1330	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	PLCB3_ENST00000279230.6_Silent_p.I409I|PLCB3_ENST00000325234.5_Silent_p.I342I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	409	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ACCCCGTCATCCTCTCCTTCG	0.597000													26	42					0	0	0.009535	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993630	140993630	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:140993630C>T	ENST00000285879.4	+	4	726	c.440C>T	c.(439-441)tCc>tTc	p.S147F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	147							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAGTTCCCCTGAGAGT	0.498000										HNSCC(15;0.026)			106	73					0	0	0.003610	0	0
GAS2	2620	broad.mit.edu	37	11	22747927	22747927	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:22747927G>A	ENST00000454584.2	+	4	662	c.357G>A	c.(355-357)tgG>tgA	p.W119*	GAS2_ENST00000278187.3_Nonsense_Mutation_p.W119*|GAS2_ENST00000433790.1_Nonsense_Mutation_p.W119*	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	119	CH.				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						TCTTATCCTGGTGCCGAGATT	0.393000													34	38					0	0	0.004878	0	0
SPAG16	79582	broad.mit.edu	37	2	214204952	214204952	+	Missense_Mutation	SNP	G	G	A	rs144854983		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:214204952G>A	ENST00000413312.1	+	5	755	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	SPAG16_ENST00000272898.7_Missense_Mutation_p.R201Q|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000331683.5_Missense_Mutation_p.R201Q|SPAG16_ENST00000447990.1_Missense_Mutation_p.R201Q|SPAG16_ENST00000374309.3_Missense_Mutation_p.R107Q			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	201					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CATCATAAGCGAATAGTCCAG	0.284000													19	21					0	0	0.001882	0	0
LYG2	254773	broad.mit.edu	37	2	99860512	99860512	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:99860512T>C	ENST00000409679.1	-	5	614	c.470A>G	c.(469-471)aAg>aGg	p.K157R	LYG2_ENST00000333017.2_Missense_Mutation_p.K157R|LYG2_ENST00000409238.1_Missense_Mutation_p.K157R			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	157					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						CTGGATTGCCTTAATTCTCTC	0.438000													16	34					0	0	0.007413	0	0
TSPAN12	23554	broad.mit.edu	37	7	120455792	120455792	+	Silent	SNP	C	C	T	rs139536082	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:120455792C>T	ENST00000222747.3	-	5	958	c.351G>A	c.(349-351)caG>caA	p.Q117Q	TSPAN12_ENST00000415871.1_Silent_p.Q117Q	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	117					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CCATAAGTTCCTGTTCATATG	0.338000													18	16					0	0	0.010504	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744112	31744112	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:31744112G>A	ENST00000399889.2	-	1	445	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	140						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						ATCCATAGCCGAGGGAAGGGA	0.567000													12	22					0	0	0.001368	0	0
RPSA	3921	broad.mit.edu	37	3	39449165	39449165	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:39449165C>T	ENST00000301821.6	+	2	130	c.21C>T	c.(19-21)gtC>gtT	p.V7V	RPSA_ENST00000443003.1_Silent_p.V7V	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	7					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	p.V7V(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		cccttgatgtcctgcaaatga	0.418000													15	24					0	0	0.002450	0	0
C1orf74	148304	broad.mit.edu	37	1	209956583	209956583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:209956583G>A	ENST00000294811.1	-	2	653	c.397C>T	c.(397-399)Cag>Tag	p.Q133*		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	133										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		TTCAAGTCCTGAAGCTGGTCC	0.547000													37	43					0	0	0.005524	0	0
RRAD	6236	broad.mit.edu	37	16	66956003	66956003	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:66956003G>A	ENST00000299759.6	-	5	1153	c.903C>T	c.(901-903)tcC>tcT	p.S301S	RRAD_ENST00000420652.1_Silent_p.S301S			P55042	RAD_HUMAN	Ras-related associated with diabetes	301					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GGTCGTGGCAGGACTTGGATT	0.637000													9	10					0	0	0.006214	0	0
OR7D4	125958	broad.mit.edu	37	19	9324610	9324610	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9324610C>T	ENST00000308682.2	-	1	932	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGGAGTCTTTCCAGGGCCCCC	0.552000													33	22					0	0	0.005524	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092293	151092293	+	Missense_Mutation	SNP	G	G	A	rs144298375		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:151092293G>A	ENST00000360243.2	+	3	424	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	MAGEA4_ENST00000370337.4_Missense_Mutation_p.E53K|MAGEA4_ENST00000276344.2_Missense_Mutation_p.E53K|MAGEA4_ENST00000393921.1_Missense_Mutation_p.E53K|MAGEA4_ENST00000370335.1_Missense_Mutation_p.E53K|MAGEA4_ENST00000393920.1_Missense_Mutation_p.E53K|MAGEA4_ENST00000370340.3_Missense_Mutation_p.E53K	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	53				E -> K (in Ref. 3; BAA06841).			protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CACCCTGGAGGAAGTGCCTGC	0.617000													92	54					0	0	0.003610	0	0
PDE4A	5141	broad.mit.edu	37	19	10578119	10578119	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:10578119C>T	ENST00000380702.2	+	16	2417	c.2417C>T	c.(2416-2418)tCt>tTt	p.S806F	PDE4A_ENST00000592685.1_Missense_Mutation_p.S806F|PDE4A_ENST00000293683.5_Missense_Mutation_p.S802F|PDE4A_ENST00000352831.6_Missense_Mutation_p.S828F|PDE4A_ENST00000344979.3_Missense_Mutation_p.S589F|PDE4A_ENST00000440014.2_Missense_Mutation_p.S767F			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	828					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	AGGACCCTGTCTGTTTCAGAG	0.662000													46	60					0	0	0.003610	0	0
ASXL3	80816	broad.mit.edu	37	18	31324907	31324907	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:31324907G>A	ENST00000269197.5	+	12	5095	c.5095G>A	c.(5095-5097)Gcc>Acc	p.A1699T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1699					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						TGCAGAGGGAGCCTCTAGTGT	0.522000													42	45					0	0	0.003214	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887231	12887231	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:12887231G>A	ENST00000535591.1	-	3	821	c.626C>T	c.(625-627)tCc>tTc	p.S209F		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	209										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGCTCTGGGGAAACGTAGCG	0.493000													189	20					0	0	0.003610	0	0
ATP2B2	491	broad.mit.edu	37	3	10391874	10391874	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:10391874C>T	ENST00000397077.1	-	15	2766	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	ATP2B2_ENST00000383800.4_Missense_Mutation_p.E731K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E776K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E762K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E776K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	776					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCAATTCGCTCCTGCTCAATC	0.622000													13	17					0	0	0.003163	0	0
HKDC1	80201	broad.mit.edu	37	10	71010086	71010086	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:71010086C>T	ENST00000354624.5	+	11	1744	c.1611C>T	c.(1609-1611)aaC>aaT	p.N537N	HKDC1_ENST00000395086.2_Silent_p.N537N	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	537					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGGGAACCAACTTCCGGGTCC	0.547000													63	91					0	0	0.003610	0	0
TTBK1	84630	broad.mit.edu	37	6	43226840	43226840	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:43226840G>A	ENST00000259750.4	+	11	1164	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	TTBK1_ENST00000304139.5_Missense_Mutation_p.G310R	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	361						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGTGCTACAGGGAGAGCACCT	0.677000													21	49					0	0	0.003330	0	0
TMEM132D	121256	broad.mit.edu	37	12	130015696	130015696	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:130015696G>A	ENST00000422113.2	-	3	1349	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	341						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CATCCCAAATGGAAGGGCTGC	0.537000													32	39					0	0	0.003755	0	0
PLCZ1	89869	broad.mit.edu	37	12	18889170	18889170	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:18889170C>T	ENST00000266505.7	-	3	383	c.120G>A	c.(118-120)gtG>gtA	p.V40V	PLCZ1_ENST00000539875.1_Silent_p.V40V|PLCZ1_ENST00000435379.1_Silent_p.V38V|PLCZ1_ENST00000447925.2_Silent_p.V38V|RP11-361I14.2_ENST00000536931.1_RNA			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	40	EF-hand.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AAATCTGTTTCACATGAATAT	0.358000													32	28					0	0	0.009535	0	0
BEND2	139105	broad.mit.edu	37	X	18209205	18209205	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:18209205C>T	ENST00000380033.4	-	8	1336	c.1204G>A	c.(1204-1206)Ggg>Agg	p.G402R	BEND2_ENST00000380030.3_Missense_Mutation_p.G311R	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	402										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTCATTGTCCCATAACTCATT	0.368000													43	44					0	0	0.002522	0	0
RYR1	6261	broad.mit.edu	37	19	38951133	38951133	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:38951133G>A	ENST00000355481.4	+	20	2610	c.2479G>A	c.(2479-2481)Gag>Aag	p.E827K	RYR1_ENST00000360985.3_Missense_Mutation_p.E827K|RYR1_ENST00000359596.3_Missense_Mutation_p.E827K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	827					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)	ACCCATCAAGGAGTATCGACG	0.637000													32	53					0	0	0.002445	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770035	112770035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:112770035G>A	ENST00000390666.3	-	1	693	c.502C>T	c.(502-504)Cga>Tga	p.R168*	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	168	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AATGCCATTCGACCACTGTCA	0.567000													23	26					0	0	0.006320	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23830060	23830060	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:23830060C>T	ENST00000264867.2	-	5	839	c.720G>A	c.(718-720)aaG>aaA	p.K240K	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	240					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGTGGGACTTCTTTTTGGAGG	0.498000													54	58					0	0	0.003610	0	0
MDGA2	161357	broad.mit.edu	37	14	47530677	47530677	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:47530677G>A	ENST00000426342.1	-	7	1152	c.406C>T	c.(406-408)Cct>Tct	p.P136S	MDGA2_ENST00000357362.3_Missense_Mutation_p.P136S|MDGA2_ENST00000439988.2_Missense_Mutation_p.P365S|MDGA2_ENST00000399232.2_Missense_Mutation_p.P434S	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	365	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCCTCAGAAGGAACAGCTTCT	0.423000													27	35					0	0	0.005443	0	0
LIPC	3990	broad.mit.edu	37	15	58855711	58855711	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:58855711G>A	ENST00000414170.3	+	9	1464	c.1177G>A	c.(1177-1179)Gga>Aga	p.G393R	LIPC_ENST00000299022.5_Missense_Mutation_p.G393R|LIPC_ENST00000356113.6_Missense_Mutation_p.G393R|LIPC_ENST00000433326.2_Missense_Mutation_p.G332R			P11150	LIPC_HUMAN	lipase, hepatic	393	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		AAGGGGCAAAGGAATTGCTAG	0.418000													14	18					0	0	0.004007	0	0
USH2A	7399	broad.mit.edu	37	1	215972453	215972453	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:215972453G>A	ENST00000366943.2	-	50	10140	c.9754C>T	c.(9754-9756)Cca>Tca	p.P3252S	USH2A_ENST00000307340.3_Missense_Mutation_p.P3252S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3252					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTTCATCTGGACAGCATACT	0.403000										HNSCC(13;0.011)			56	3					0	0	0.003610	0	0
KIF5A	3798	broad.mit.edu	37	12	57976384	57976384	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:57976384G>A	ENST00000455537.2	+	27	3266		c.e27-1		KIF5A_ENST00000286452.5_Splice_Site	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A						blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GATCTCTTCAGGAAATGCCAC	0.438000													82	104					0	0	0.003610	0	0
MARCO	8685	broad.mit.edu	37	2	119739064	119739064	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:119739064C>T	ENST00000541757.1	+	10	992	c.612C>T	c.(610-612)ttC>ttT	p.F204F	MARCO_ENST00000327097.4_Silent_p.F282F			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	282	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AAGGTGACTTCGGGAGGCCAG	0.527000													7	7					0	0	0.003080	0	0
HPS4	89781	broad.mit.edu	37	22	26868811	26868811	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:26868811G>A	ENST00000398145.2	-	5	987	c.371C>T	c.(370-372)tCc>tTc	p.S124F	HPS4_ENST00000398141.1_Missense_Mutation_p.S119F|HPS4_ENST00000336873.5_Missense_Mutation_p.S124F|HPS4_ENST00000402105.3_Missense_Mutation_p.S119F	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	124					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						ATAAGCTAGGGAAACAGGTCC	0.468000									Hermansky-Pudlak syndrome				52	73					0	0	0.003610	0	0
KRT5	3852	broad.mit.edu	37	12	52908824	52908824	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:52908824G>A	ENST00000252242.4	-	9	2065	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	559	Ser-rich.|Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCAGCCCTCGGCCACTGCTT	0.627000													12	13					0	0	0.004990	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053432	5053432	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:5053432G>A	ENST00000251170.7	+	11	1340	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	387	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GACCTGGAGGGACTCAACATG	0.642000													29	32					0	0	0.003755	0	0
PIGG	54872	broad.mit.edu	37	4	515512	515512	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:515512C>T	ENST00000453061.2	+	8	1502	c.1396C>T	c.(1396-1398)Cca>Tca	p.P466S	PIGG_ENST00000383028.4_Missense_Mutation_p.P333S|PIGG_ENST00000310340.5_Missense_Mutation_p.P458S|PIGG_ENST00000536264.1_Silent_p.S328S|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.P377S|PIGG_ENST00000509768.1_Missense_Mutation_p.P377S	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	466					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GCTGGAAGTCCCACTGTCATC	0.537000													18	20					0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179404389	179404389	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179404389C>T	ENST00000589042.1	-	352	98627	c.98403G>A	c.(98401-98403)ggG>ggA	p.G32801G	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.G30233G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.G31160G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.G23928G|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.G23736G|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.G23861G|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31160	Ig-like 145.						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)			ATTCCAGTGGCCCTTCTGGAC	0.502000													38	42					0	0	0.006999	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90534158	90534158	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:90534158C>T	ENST00000602681.1	+	0	904																											CTCGCCATTTCTTGTCTCCCA	0.607000													30	6					0	0	0.007291	0	0
BRINP2	57795	broad.mit.edu	37	1	177249596	177249596	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:177249596G>A	ENST00000361539.4	+	8	1596	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		428						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCTACTGTGGGGAAAGCACCT	0.542000													118	3					0	0	0.003610	0	0
SPEF2	79925	broad.mit.edu	37	5	35806810	35806810	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:35806810C>T	ENST00000440995.2	+	35	4997	c.4995_splice	c.e35-1	p.T1666_splice	SPEF2_ENST00000303129.4_Splice_Site_p.T468_splice|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Splice_Site_p.T1671_splice			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1671					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTTTGCAGACCTCCTCAACT	0.378000													17	21					0	0	0.010504	0	0
KALRN	8997	broad.mit.edu	37	3	124215215	124215215	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:124215215C>T	ENST00000360013.3	+	33	5011	c.4884C>T	c.(4882-4884)atC>atT	p.I1628I	KALRN_ENST00000240874.3_Silent_p.I1628I|KALRN_ENST00000460856.1_Silent_p.I1619I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1628					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAGACACCATCTCCATTGCTT	0.542000													38	41					0	0	0.002522	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236230	140236230	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140236230G>A	ENST00000307360.5	+	1	597	c.597G>A	c.(595-597)ctG>ctA	p.L199L	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.L199L|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCTGCTGGATCGTGAAG	0.398000													35	50					0	0	0.005524	0	0
CAB39	51719	broad.mit.edu	37	2	231663564	231663564	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:231663564C>T	ENST00000258418.5	+	5	948	c.519C>T	c.(517-519)gtC>gtT	p.V173V	CAB39_ENST00000409788.3_Silent_p.V173V|CAB39_ENST00000410084.3_Silent_p.V173V	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	173					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TCAGATATGTCGAAATGTCAA	0.348000													14	15					0	0	0.002450	0	0
SPHK2	56848	broad.mit.edu	37	19	49129386	49129386	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:49129386C>T	ENST00000443164.1	+	1	1169	c.464C>T	c.(463-465)cCg>cTg	p.P155L	SPHK2_ENST00000599748.1_Missense_Mutation_p.P57L|SPHK2_ENST00000598088.1_Missense_Mutation_p.P93L|SPHK2_ENST00000245222.4_Missense_Mutation_p.P93L|SPHK2_ENST00000601712.1_Missense_Mutation_p.P57L|SPHK2_ENST00000599029.1_Missense_Mutation_p.P57L|SPHK2_ENST00000599033.1_3'UTR|SPHK2_ENST00000600537.1_Missense_Mutation_p.P34L|SPHK2_ENST00000340932.3_Missense_Mutation_p.P57L			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	93	Required for binding to sulfatide and phosphoinositides and for membrane localization.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGCCTGGTCCCGTTGGCCGAG	0.697000													10	13					0	0	0.008291	0	0
TACR2	6865	broad.mit.edu	37	10	71174875	71174875	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:71174875G>A	ENST00000373306.4	-	2	956	c.413C>T	c.(412-414)cCc>cTc	p.P138L		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	138					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	AGGCTGGAAGGGGTGGACGAT	0.637000													17	23					0	0	0.008871	0	0
UCK2	7371	broad.mit.edu	37	1	165859599	165859599	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:165859599G>A	ENST00000367879.4	+	2	561	c.259_splice	c.e2+1	p.P86_splice	UCK2_ENST00000372212.4_Splice_Site_p.P86_splice	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	86					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TTGACCACCCGGGTGAGTCGG	0.507000													57	3					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179449136	179449136	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179449136G>A	ENST00000589042.1	-	311	65366	c.65142C>T	c.(65140-65142)gtC>gtT	p.V21714V	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.V19146V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.V20073V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.V12841V|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.V12649V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.V12774V|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20073	Ig-like 114.						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)			CAGTTGACCGGACAAGAGTAT	0.458000													34	54					0	0	0.004878	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94913450	94913450	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:94913450C>T	ENST00000289495.5	+	15	3513	c.3297C>T	c.(3295-3297)tcC>tcT	p.S1099S	PPP1R9A_ENST00000433360.1_Silent_p.S1139S|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000424654.1_Silent_p.S1117S|PPP1R9A_ENST00000456331.2_Silent_p.S1117S|PPP1R9A_ENST00000340694.4_Intron	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	890						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GATCCTATTCCTTCAGGAACC	0.473000										HNSCC(28;0.073)			71	41					0	0	0.003610	0	0
MYH15	22989	broad.mit.edu	37	3	108182015	108182015	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:108182015T>G	ENST00000273353.3	-	17	1923	c.1867A>C	c.(1867-1869)Aag>Cag	p.K623Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	623	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTGGAAGACTTCTGAAATACA	0.408000													64	92					0	0	0.003610	0	0
CRB2	286204	broad.mit.edu	37	9	126132692	126132692	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:126132692C>T	ENST00000373631.3	+	7	1361	c.1360C>T	c.(1360-1362)Cca>Tca	p.P454S	CRB2_ENST00000359999.3_Missense_Mutation_p.P454S|CRB2_ENST00000373629.2_Missense_Mutation_p.P122S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	454	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGCATCAGTGCCAGCTGGTGG	0.612000													16	3					0	0	0.006122	0	0
SH2D1B	117157	broad.mit.edu	37	1	162372562	162372562	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:162372562G>A	ENST00000367929.2	-	2	274	c.165C>T	c.(163-165)atC>atT	p.I55I	SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Silent_p.I55I	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	55	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCTCTCTGAAGATTCGGTATG	0.378000													23	108					0	0	0.006320	0	0
CHD6	84181	broad.mit.edu	37	20	40033886	40033886	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:40033886G>A	ENST00000373233.3	-	37	7672	c.7495C>T	c.(7495-7497)Cca>Tca	p.P2499S	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2499					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AAGCCAGCTGGAAACCCCACC	0.557000													29	35					0	0	0.002096	0	0
KLHL18	23276	broad.mit.edu	37	3	47371567	47371567	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:47371567C>T	ENST00000232766.5	+	4	548	c.528C>T	c.(526-528)ttC>ttT	p.F176F	KLHL18_ENST00000455924.2_Silent_p.F64F	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	176	BACK.							p.F176F(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CAGAAGAGTTCCTGGCCCTGC	0.542000													19	21					0	0	0.001882	0	0
TENM1	10178	broad.mit.edu	37	X	123554651	123554651	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:123554651C>T	ENST00000422452.2	-	25	4555	c.4492G>A	c.(4492-4494)Gat>Aat	p.D1498N	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.D1491N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATCTTTGCATCTTTGGCATAG	0.453000													37	98					0	0	0.008740	0	0
RGS21	431704	broad.mit.edu	37	1	192321268	192321268	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:192321268G>A	ENST00000417209.2	+	4	354	c.180G>A	c.(178-180)acG>acA	p.T60T		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	60	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTAAGAAAACGAAAAATGCAG	0.353000													74	2					0	0	0.003610	0	0
KYNU	8942	broad.mit.edu	37	2	143685263	143685263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:143685263G>A	ENST00000264170.4	+	4	584	c.326G>A	c.(325-327)tGg>tAg	p.W109*	KYNU_ENST00000410015.2_Nonsense_Mutation_p.W109*|KYNU_ENST00000409512.1_Nonsense_Mutation_p.W109*|KYNU_ENST00000375773.2_Nonsense_Mutation_p.W109*	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	109					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AAGCGTCCTTGGATTACAGGA	0.358000													34	52					0	0	0.006999	0	0
TTN	7273	broad.mit.edu	37	2	179611041	179611041	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179611041C>T	ENST00000360870.5	-	46	16308	c.16086G>A	c.(16084-16086)agG>agA	p.R5362R	TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8875	Ig-like 34.						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)			CTTCTCCCTCCCTTGAATCCA	0.323000													29	26					0	0	0.006320	0	0
SLC13A1	6561	broad.mit.edu	37	7	122811882	122811882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:122811882C>T	ENST00000194130.2	-	3	344	c.305G>A	c.(304-306)tGg>tAg	p.W102*	SLC13A1_ENST00000539873.1_Nonsense_Mutation_p.W38*	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	102						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GTGCAAATTCCATTTTTCTAT	0.378000													79	51					0	0	0.003610	0	0
DMTN	2039	broad.mit.edu	37	8	21938320	21938320	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:21938320G>A	ENST00000358242.3	+	14	1455	c.962G>A	c.(961-963)gGa>gAa	p.G321E	DMTN_ENST00000523782.2_Intron|DMTN_ENST00000443491.2_Intron|DMTN_ENST00000381470.3_Intron|DMTN_ENST00000265800.5_Missense_Mutation_p.G321E|DMTN_ENST00000517600.1_Missense_Mutation_p.G281E|DMTN_ENST00000523266.1_Missense_Mutation_p.G321E|DMTN_ENST00000519907.1_Intron|DMTN_ENST00000432128.1_Missense_Mutation_p.G321E|DMTN_ENST00000415253.1_Intron					dematin actin binding protein																		CCCCAGAACGGAGAGGGCCAG	0.667000													7	9					0	0	0.003080	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914515	94914515	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:94914515G>A	ENST00000334708.3	-	2	661	c.597C>T	c.(595-597)ttC>ttT	p.F199F	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	199					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TGTCCTGGCTGAACTCCGGGA	0.463000													54	63					0	0	0.003610	0	0
NDST1	3340	broad.mit.edu	37	5	149929308	149929308	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:149929308C>T	ENST00000261797.6	+	13	2887	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	NDST1_ENST00000523767.1_Silent_p.F738F	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	795	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCAGAAGTTCCTTGGGGTGA	0.512000													20	21					0	0	0.003330	0	0
CUX2	23316	broad.mit.edu	37	12	111785488	111785488	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:111785488G>A	ENST00000261726.6	+	22	3974	c.3820G>A	c.(3820-3822)Gaa>Aaa	p.E1274K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1274						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AACCGTGAAGGAACTGGAGCT	0.622000													11	21					0	0	0.008291	0	0
IGHM	3507	broad.mit.edu	37	14	106321778	106321778	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:106321778C>T	ENST00000390559.2	-	0	455																											CCACCTGCTTCCCCTCGCGCA	0.642000													13	17					0	0	0.001855	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997178	82997178	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:82997178C>T	ENST00000307792.3	-	17	2519	c.2052G>A	c.(2050-2052)aaG>aaA	p.K684K	SEMA3E_ENST00000427262.1_Silent_p.K624K	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	684					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CCTCATCGTCCTTGTTAAACA	0.483000													68	38					0	0	0.003610	0	0
GPR123	84435	broad.mit.edu	37	10	134906696	134906696	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:134906696C>T	ENST00000607359.1	+	10	1967	c.1967C>T	c.(1966-1968)tCc>tTc	p.S656F	GPR123_ENST00000392607.3_Intron			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	217						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GAGGAAGATTCCTTCAGGCAG	0.542000													9	4					0	0	0.004482	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688826	26688826	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:26688826C>T	ENST00000529632.2	+	2	745	c.549C>T	c.(547-549)ccC>ccT	p.P183P	SEZ6L_ENST00000404234.3_Silent_p.P183P|SEZ6L_ENST00000248933.6_Silent_p.P183P|SEZ6L_ENST00000343706.4_Silent_p.P183P|SEZ6L_ENST00000360929.3_Silent_p.P183P|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	183						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGAAGTGCCCCTTTGGCTGG	0.657000													24	23					0	0	0.008361	0	0
AQR	9716	broad.mit.edu	37	15	35185944	35185944	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:35185944C>T	ENST00000156471.5	-	23	2716	c.2491G>A	c.(2491-2493)Gat>Aat	p.D831N		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	831						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACTGCCACATCTGTTTTGCCT	0.408000													49	117					0	0	0.003610	0	0
KLK6	5653	broad.mit.edu	37	19	51465129	51465129	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:51465129G>A	ENST00000376851.3	-	5	892	c.453C>T	c.(451-453)ttC>ttT	p.F151F	KLK6_ENST00000456750.2_Silent_p.F44F|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Silent_p.F151F|KLK6_ENST00000310157.2_Silent_p.F151F|KLK6_ENST00000391808.1_Silent_p.F44F|KLK6_ENST00000376853.4_Intron	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	151	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TGGTGTCAGGGAAATCACCTG	0.587000													24	21					0	0	0.003954	0	0
PSG9	5678	broad.mit.edu	37	19	43772155	43772155	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:43772155C>T	ENST00000244293.7	-	2	277	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	PSG9_ENST00000418820.2_Missense_Mutation_p.E71K|PSG9_ENST00000270077.3_Missense_Mutation_p.E71K|PSG9_ENST00000596730.1_Missense_Mutation_p.E71K|PSG9_ENST00000443718.3_Missense_Mutation_p.E71K|PSG9_ENST00000593948.1_Missense_Mutation_p.E71K|PSG9_ENST00000291752.5_Missense_Mutation_p.E71K			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	71	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TCCGTCATTTCCCCTTTGTAC	0.413000													94	89					0	0	0.003610	0	0
FSIP2	401024	broad.mit.edu	37	2	186678426	186678426	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:186678426G>A	ENST00000343098.5	+	18	20249	c.20249G>A	c.(20248-20250)cGa>cAa	p.R6750Q	FSIP2_ENST00000424728.1_Missense_Mutation_p.R6661Q	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAGAGGAACGAGATTCTGAT	0.313000													7	14					0	0	0.004482	0	0
RXRB	6257	broad.mit.edu	37	6	33167028	33167028	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:33167028G>A	ENST00000374680.3	-	2	612	c.401C>T	c.(400-402)cCa>cTa	p.P134L	RXRB_ENST00000413614.2_Intron|RXRB_ENST00000374685.4_Missense_Mutation_p.P134L|RXRB_ENST00000544186.1_Intron	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	134	Modulating (By similarity).|Pro-rich.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	ACTGATGACTGGAAAGGGAGA	0.667000													3	7					0	0	0.004672	0	0
BMP1	649	broad.mit.edu	37	8	22049630	22049630	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:22049630C>T	ENST00000306385.5	+	9	1816	c.1146C>T	c.(1144-1146)gtC>gtT	p.V382V	BMP1_ENST00000397814.3_Silent_p.V382V|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Silent_p.V382V|BMP1_ENST00000397816.3_Silent_p.V382V	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	382	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ATGTGGAGGTCCGAGATGGCT	0.612000													28	36					0	0	0.008361	0	0
FLRT2	23768	broad.mit.edu	37	14	86088753	86088753	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:86088753C>T	ENST00000330753.4	+	2	1662	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F	FLRT2_ENST00000554746.1_Missense_Mutation_p.L299F	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	299					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTTTGATAATCTCTCCAACCT	0.453000													94	120					0	0	0.003610	0	0
NLRP11	204801	broad.mit.edu	37	19	56321635	56321635	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:56321635C>T	ENST00000443188.1	-	5	1051	c.341G>A	c.(340-342)gGa>gAa	p.G114E	NLRP11_ENST00000592953.1_Missense_Mutation_p.G15E|NLRP11_ENST00000589093.1_Missense_Mutation_p.G114E|NLRP11_ENST00000360133.3_Missense_Mutation_p.G114E|NLRP11_ENST00000589824.2_Missense_Mutation_p.G114E	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	114							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATGAAATTTTCCAAAAGTGTG	0.383000													16	19					0	0	0.004007	0	0
GRIA3	2892	broad.mit.edu	37	X	122538605	122538605	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:122538605G>A	ENST00000264357.5	+	10	1632	c.1340G>A	c.(1339-1341)gGa>gAa	p.G447E	GRIA3_ENST00000542149.1_Missense_Mutation_p.G447E|GRIA3_ENST00000541091.1_Missense_Mutation_p.G431E|GRIA3_ENST00000371256.5_Missense_Mutation_p.G447E|GRIA3_ENST00000371251.1_Missense_Mutation_p.G447E	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	447					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CAACTGGAAGGAAATGAACGA	0.373000													23	60					0	0	0.005443	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609835	32609835	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32609835C>T	ENST00000343139.5	+	3	520	c.418C>T	c.(418-420)Cct>Tct	p.P140S	HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.P140S|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.P140S	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	139	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAACATCTTTCCTCCTGTGGT	0.498000													12	34					0	0	0.007413	0	0
HSPG2	3339	broad.mit.edu	37	1	22168773	22168773	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:22168773G>A	ENST00000374695.3	-	68	9090	c.9011C>T	c.(9010-9012)tCc>tTc	p.S3004F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3004	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GACTGTGAAGGAGGCTTCTTG	0.652000													9	20					0	0	0.008291	0	0
TRAV8-3	28683	broad.mit.edu	37	14	22320734	22320734	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:22320734C>T	ENST00000390435.1	+	0	0																											CTTGTTCAGCCATGCTCCTGG	0.458000													11	23					0	0	0.001368	0	0
FERD3L	222894	broad.mit.edu	37	7	19184566	19184566	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:19184566G>A	ENST00000275461.3	-	1	478	c.420C>T	c.(418-420)atC>atT	p.I140I	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	140	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GGAGGGTCTCGATCCGGGACA	0.567000													34	34					0	0	0.003755	0	0
GRM3	2913	broad.mit.edu	37	7	86415776	86415776	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:86415776G>A	ENST00000361669.2	+	3	1767	c.668G>A	c.(667-669)gGg>gAg	p.G223E	GRM3_ENST00000439827.1_Missense_Mutation_p.G223E|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.G221E|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.G95E	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	223					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGTGATTACGGGGAGACAGGG	0.612000													20	60					0	0	0.001882	0	0
EPHA6	285220	broad.mit.edu	37	3	97356795	97356795	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:97356795G>A	ENST00000389672.5	+	14	2691	c.2653G>A	c.(2653-2655)Gat>Aat	p.D885N	EPHA6_ENST00000442602.2_3'UTR|EPHA6_ENST00000514100.1_Missense_Mutation_p.D277N|EPHA6_ENST00000502694.1_Missense_Mutation_p.D277N	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	790	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GTATCTTTCTGATATGGGTTA	0.453000													73	85					0	0	0.003610	0	0
CUL9	23113	broad.mit.edu	37	6	43184185	43184185	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:43184185C>T	ENST00000252050.4	+	31	6310	c.6226C>T	c.(6226-6228)Ccc>Tcc	p.P2076S	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.P2048S|CUL9_ENST00000354495.3_Missense_Mutation_p.P1966S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2076					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTGTGTGAGCCCCCTGGGGTG	0.642000													32	139					0	0	0.005524	0	0
NLRP4	147945	broad.mit.edu	37	19	56390161	56390161	+	Splice_Site	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:56390161T>C	ENST00000301295.6	+	9	3120	c.2696_splice	c.e9-1	p.L900_splice	NLRP4_ENST00000346986.5_Splice_Site_p.L844_splice|NLRP4_ENST00000587891.1_Splice_Site_p.L825_splice	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	900							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTATTGCAGGTTGGAAGAATG	0.532000													6	9					0	0	0.001168	0	0
SKOR1	390598	broad.mit.edu	37	15	68125554	68125554	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:68125554A>C	ENST00000380035.2	+	8	2820	c.2762A>C	c.(2761-2763)cAg>cCg	p.Q921P	SKOR1_ENST00000389002.1_Missense_Mutation_p.Q877P|SKOR1_ENST00000554054.1_Missense_Mutation_p.Q893P|RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000554240.1_Missense_Mutation_p.Q882P|SKOR1_ENST00000341418.5_Missense_Mutation_p.Q824P			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	921					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GAACTCGACCAGGAGCGGAAG	0.617000													16	28					0	0	0.010504	0	0
TRPM6	140803	broad.mit.edu	37	9	77339641	77339641	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:77339641G>A	ENST00000451710.3	-	38	6206	c.5969C>T	c.(5968-5970)tCc>tTc	p.S1990F	TRPM6_ENST00000449912.2_Missense_Mutation_p.S1981F|TRPM6_ENST00000376872.3_Missense_Mutation_p.S941F|TRPM6_ENST00000361255.3_Missense_Mutation_p.S1981F|TRPM6_ENST00000376871.3_Missense_Mutation_p.S823F|TRPM6_ENST00000360774.1_Missense_Mutation_p.S1986F			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1986					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCTTTCAGGGGAATAGTCATT	0.413000													30	7					0	0	0.009535	0	0
ALPK1	80216	broad.mit.edu	37	4	113352475	113352475	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:113352475C>T	ENST00000458497.1	+	11	2051	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	ALPK1_ENST00000504176.2_Missense_Mutation_p.S513F|ALPK1_ENST00000177648.9_Missense_Mutation_p.S591F	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	591							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GGGTTTAGTTCCTCTGCAAGC	0.512000													36	34					0	0	0.003755	0	0
SKAP1	8631	broad.mit.edu	37	17	46257444	46257444	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:46257444T>A	ENST00000336915.6	-	9	867	c.798A>T	c.(796-798)gaA>gaT	p.E266D	SKAP1_ENST00000584924.1_Missense_Mutation_p.E266D	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	266					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TATCTTCTTCTTCTTTCTCCT	0.408000													38	57					0	0	0.009718	0	0
ZNF44	51710	broad.mit.edu	37	19	12385791	12385791	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:12385791G>A	ENST00000356109.5	-	4	450	c.332C>T	c.(331-333)cCa>cTa	p.P111L	ZNF44_ENST00000355684.5_Missense_Mutation_p.P63L	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	111	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AAATTACCTTGGATTTCTCCT	0.343000													13	19					0	0	0.004007	0	0
YY2	404281	broad.mit.edu	37	X	21874647	21874647	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:21874647C>T	ENST00000429584.2	+	1	543	c.45C>T	c.(43-45)atC>atT	p.I15I	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						ACCTGGAGATCCCGGCAGATA	0.527000													65	68					0	0	0.003610	0	0
DNAI2	64446	broad.mit.edu	37	17	72308292	72308292	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:72308292G>A	ENST00000579490.1	+	11	1951	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	DNAI2_ENST00000582036.1_Missense_Mutation_p.E537K|DNAI2_ENST00000446837.2_Missense_Mutation_p.E549K|DNAI2_ENST00000311014.6_Missense_Mutation_p.E549K|DNAI2_ENST00000307504.5_Intron			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	549					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAGCAAGGCCGAGGAGGAGTT	0.612000									Kartagener syndrome				9	7					0	0	0.006214	0	0
KCNH2	3757	broad.mit.edu	37	7	150649632	150649632	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:150649632C>T	ENST00000392968.2	-	4	2270	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	KCNH2_ENST00000262186.5_Missense_Mutation_p.E480K|KCNH2_ENST00000430723.3_Missense_Mutation_p.E480K|KCNH2_ENST00000330883.4_Missense_Mutation_p.E140K			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	480					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	ACCACCTCCTCGTTGGCATTG	0.597000													81	34					0	0	0.003610	0	0
DMXL2	23312	broad.mit.edu	37	15	51791142	51791142	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:51791142G>A	ENST00000251076.5	-	18	4566	c.4279C>T	c.(4279-4281)Cct>Tct	p.P1427S	DMXL2_ENST00000543779.2_Missense_Mutation_p.P1427S|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1427						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GGTAGTGGAGGGATAGAATCT	0.398000													62	67					0	0	0.003610	0	0
FBXO47	494188	broad.mit.edu	37	17	37093532	37093532	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:37093532C>T	ENST00000378079.2	-	11	1454	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	419										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CTGTCATCTTCATCACGGTCT	0.328000													17	21					0	0	0.007413	0	0
CFAP221	200373	broad.mit.edu	37	2	120397388	120397388	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:120397388G>A	ENST00000602047.1	+	22	2419	c.1307G>A	c.(1306-1308)aGc>aAc	p.S436N	PCDP1_ENST00000413369.3_Missense_Mutation_p.S722N			Q4G0U5	PCDP1_HUMAN		722						cilium	calmodulin binding					Colorectal(110;0.196)					CACTGGAAAAGCTTCCAGTCC	0.483000													26	36					0	0	0.005443	0	0
CCDC64B	146439	broad.mit.edu	37	16	3079381	3079381	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:3079381G>A	ENST00000573514.1	-	5	2576	c.386C>T	c.(385-387)cCc>cTc	p.P129L	CCDC64B_ENST00000572449.1_Missense_Mutation_p.P336L|CCDC64B_ENST00000389347.4_Missense_Mutation_p.P336L			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	336										breast(1)|endometrium(2)|large_intestine(1)	4						CTCTTCCGGGGGTGAAGGCTG	0.577000													3	8					0	0	0.009096	0	0
ZNF429	353088	broad.mit.edu	37	19	21719375	21719375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:21719375C>T	ENST00000358491.4	+	4	728	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GAAACCTTTCCAGTGTAAAAA	0.313000													20	33					0	0	0.007413	0	0
SLC6A14	11254	broad.mit.edu	37	X	115584228	115584228	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:115584228C>T	ENST00000371900.4	+	9	1294	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	402					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)	TAGCCCAACTCCCAGGTGGTC	0.358000													39	38					0	0	0.007835	0	0
NME9	347736	broad.mit.edu	37	3	138023805	138023805	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:138023805C>T	ENST00000383180.2	-	10	755	c.518G>A	c.(517-519)aGg>aAg	p.R173K	NME9_ENST00000317876.4_Missense_Mutation_p.R173K|NME9_ENST00000536478.1_Missense_Mutation_p.R173K|NME9_ENST00000333911.3_Missense_Mutation_p.R234K|NME9_ENST00000341790.5_Missense_Mutation_p.R171K|NME9_ENST00000484930.1_Missense_Mutation_p.R171K	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	234	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GCCCTCAGTCCTGGTGAGGAT	0.597000													200	263					0	0	0.003610	0	0
DOCK2	1794	broad.mit.edu	37	5	169081436	169081436	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:169081436C>T	ENST00000256935.8	+	2	153	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	25	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)			CAGCGGAGCCCCCCAGCTCTC	0.557000													22	27					0	0	0.003954	0	0
IQCE	23288	broad.mit.edu	37	7	2611196	2611196	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:2611196C>T	ENST00000402050.2	+	4	351	c.167C>T	c.(166-168)tCc>tTc	p.S56F	IQCE_ENST00000325979.7_5'UTR|IQCE_ENST00000438376.2_Missense_Mutation_p.S40F|IQCE_ENST00000404984.1_Intron	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	56										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		AAAGTGGCCTCCTGGAGGTCC	0.592000													36	83					0	0	0.003755	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912384	101912384	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:101912384G>A	ENST00000537097.1	+	6	4356	c.3543G>A	c.(3541-3543)atG>atA	p.M1181I	GPRASP1_ENST00000361600.5_Missense_Mutation_p.M1181I|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.M1181I|GPRASP1_ENST00000444152.1_Missense_Mutation_p.M1181I	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1181	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAATGGGTATGAGAAGTGCTT	0.358000													37	44					0	0	0.005524	0	0
NPAS4	266743	broad.mit.edu	37	11	66190155	66190155	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:66190155C>T	ENST00000311034.2	+	4	617	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	147					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ATCGCCTCTTCCGCTGCCGCT	0.547000													22	25					0	0	0.002780	0	0
SLX4	84464	broad.mit.edu	37	16	3652243	3652243	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:3652243A>G	ENST00000294008.3	-	4	1466	c.826T>C	c.(826-828)Ttt>Ctt	p.F276L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	276	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ACCCGTGCAAACTCCTGCTGC	0.547000								Direct reversal of damage					43	57					0	0	0.003214	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035405	110035405	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:110035405C>T	ENST00000453089.2	+	5	2383	c.1502C>T	c.(1501-1503)cCc>cTc	p.P501L	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.P532L|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.P533L			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	532							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		ACTGCAAAACCCCAAAGCACT	0.443000													35	4					0	0	0.003271	0	0
ACSM4	341392	broad.mit.edu	37	12	7475888	7475888	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:7475888G>A	ENST00000399422.4	+	8	1232	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	395					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATGGGGAAAGGAATGCTGCCC	0.383000													8	13					0	0	0.004482	0	0
DCLK3	85443	broad.mit.edu	37	3	36778708	36778708	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:36778708T>A	ENST00000416516.2	-	2	1933	c.1443A>T	c.(1441-1443)gaA>gaT	p.E481D		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	481	Protein kinase.					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						CCAAAAGGTTTTCCGGCTTGA	0.448000													22	16					0	0	0.004656	0	0
ADAD2	161931	broad.mit.edu	37	16	84229435	84229435	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:84229435C>T	ENST00000268624.3	+	8	1406	c.1313C>T	c.(1312-1314)tCg>tTg	p.S438L	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.S356L|RP11-486L19.2_ENST00000569834.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	356	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CCCCCCACCTCGGAAGGTGGC	0.706000													12	10					0	0	0.007413	0	0
PTPRB	5787	broad.mit.edu	37	12	70949790	70949790	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:70949790G>A	ENST00000334414.6	-	19	4897	c.4853C>T	c.(4852-4854)tCc>tTc	p.S1618F	PTPRB_ENST00000451516.2_Missense_Mutation_p.S1310F|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1310F|PTPRB_ENST00000261266.5_Missense_Mutation_p.S1400F|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1310F|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1530F	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1400					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGCTTTCTGGAAAACTCAAC	0.473000													31	26					0	0	0.004289	0	0
CD180	4064	broad.mit.edu	37	5	66479840	66479840	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:66479840C>T	ENST00000256447.4	-	3	988	c.831G>A	c.(829-831)gaG>gaA	p.E277E		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	277					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGTTGAGGCTCTCAACAGACA	0.468000													37	35					0	0	0.005524	0	0
LILRB5	10990	broad.mit.edu	37	19	54760034	54760034	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:54760034G>A	ENST00000450632.1	-	4	577	c.500C>T	c.(499-501)tCc>tTc	p.S167F	LILRB5_ENST00000449561.2_Missense_Mutation_p.S176F|LILRB5_ENST00000316219.5_Missense_Mutation_p.S176F|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	176	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGGCCTGGGATGGCCCTTT	0.552000													26	28					0	0	0.005443	0	0
CPS1	1373	broad.mit.edu	37	2	211456679	211456679	+	Missense_Mutation	SNP	G	G	A	rs149930500		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:211456679G>A	ENST00000233072.5	+	10	1268	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	CPS1_ENST00000430249.2_Missense_Mutation_p.D364N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	358	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GAATGTCAACGATCAAACAAA	0.378000													15	17					0	0	0.008871	0	0
TGM3	7053	broad.mit.edu	37	20	2321101	2321101	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:2321101G>A	ENST00000381458.5	+	13	2019	c.1956G>A	c.(1954-1956)aaG>aaA	p.K652K		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	652					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TAGGGCCCAAGGAGGGGTCCC	0.617000													34	59					0	0	0.004878	0	0
XIRP1	165904	broad.mit.edu	37	3	39226238	39226238	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:39226238C>T	ENST00000340369.3	-	2	4927	c.4699G>A	c.(4699-4701)Gag>Aag	p.E1567K	XIRP1_ENST00000421646.1_Missense_Mutation_p.E250K|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1567							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCACTGGCCTCAGGCTGGAGG	0.577000													36	57					0	0	0.003271	0	0
HMG20A	10363	broad.mit.edu	37	15	77763375	77763375	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:77763375C>T	ENST00000381714.3	+	6	1002	c.574C>T	c.(574-576)Cat>Tat	p.H192Y	HMG20A_ENST00000336216.4_Missense_Mutation_p.H192Y	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	192					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGGCAAATCTCATAGGCAAGG	0.408000													37	34					0	0	0.002852	0	0
POLR1B	84172	broad.mit.edu	37	2	113330160	113330160	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:113330160C>T	ENST00000263331.5	+	13	2676	c.2096C>T	c.(2095-2097)cCa>cTa	p.P699L	POLR1B_ENST00000541869.1_Missense_Mutation_p.P737L|POLR1B_ENST00000409894.3_Missense_Mutation_p.P516L|POLR1B_ENST00000417433.2_Missense_Mutation_p.P643L|POLR1B_ENST00000537335.1_Missense_Mutation_p.P488L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	699					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						ATGGGCTTTCCACTTCTCACT	0.408000													30	36					0	0	0.003271	0	0
GRIP1	23426	broad.mit.edu	37	12	66765699	66765699	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:66765699G>A	ENST00000359742.4	-	23	3027	c.2787C>T	c.(2785-2787)atC>atT	p.I929I	GRIP1_ENST00000286445.7_Silent_p.I914I|GRIP1_ENST00000398016.3_Silent_p.I877I			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	929					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCCCCGACATGATTGTTGCCT	0.527000													30	41					0	0	0.002096	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515701	140515701	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140515701C>T	ENST00000231134.5	+	1	902	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		229	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCACAATTCGCATTGTCGT	0.552000													74	87					0	0	0.003610	0	0
EPHA7	2045	broad.mit.edu	37	6	93955132	93955132	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:93955132G>A	ENST00000369303.4	-	16	2950	c.2766C>T	c.(2764-2766)ttC>ttT	p.F922F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	922						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AAAAGGTAGTGAAATCAGGAG	0.363000													53	6					0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41711215	41711215	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:41711215C>T	ENST00000400454.1	-	7	1815	c.1338G>A	c.(1336-1338)ccG>ccA	p.P446P		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	446	Ig-like C2-type 5.				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)				CCTTGAGAATCGGGTCATCGT	0.582000													15	21					0	0	0.004007	0	0
SLC4A11	83959	broad.mit.edu	37	20	3210416	3210416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:3210416C>T	ENST00000380059.3	-	14	1726	c.1625G>A	c.(1624-1626)tGg>tAg	p.W542*	SLC4A11_ENST00000380056.3_Nonsense_Mutation_p.W515*|SLC4A11_ENST00000539553.1_Nonsense_Mutation_p.W499*|SLC4A11_ENST00000474451.1_Intron	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	515	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTAGTACTTCCAGAAGACTGT	0.602000													27	35					0	0	0.004289	0	0
BSPRY	54836	broad.mit.edu	37	9	116132362	116132362	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:116132362C>T	ENST00000374183.4	+	6	1188	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	383	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						ATGTGTCCTTCCCGGGGCCCC	0.622000													30	3					0	0	0.006230	0	0
CACNA1D	776	broad.mit.edu	37	3	53783436	53783436	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:53783436C>T	ENST00000288139.3	+	28	3634	c.3516C>T	c.(3514-3516)atC>atT	p.I1172I	CACNA1D_ENST00000540742.1_Silent_p.I59I|CACNA1D_ENST00000350061.5_Silent_p.I1152I|CACNA1D_ENST00000422281.2_Silent_p.I1152I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1152					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCTTTGTCATCGTTACATTTC	0.418000													20	29					0	0	0.010504	0	0
QRSL1	55278	broad.mit.edu	37	6	107088727	107088727	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:107088727C>T	ENST00000369046.4	+	3	318	c.214C>T	c.(214-216)Cct>Tct	p.P72S	QRSL1_ENST00000369044.1_Missense_Mutation_p.P72S|QRSL1_ENST00000467262.1_3'UTR	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	72					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AGATGGAATTCCTATTGCAGT	0.328000													131	14					0	0	0.003610	0	0
MIR1207	100302175	broad.mit.edu	37	8	129061414	129061414	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:129061414G>A	ENST00000408249.1	+	0	17					NR_031612.1																						CTGGCAGGGAGGCTGGGAGGG	0.557000													26	32					0	0	0.002445	0	0
PPP4R4	57718	broad.mit.edu	37	14	94708700	94708700	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:94708700C>T	ENST00000304338.3	+	11	1375	c.1221C>T	c.(1219-1221)gaC>gaT	p.D407D		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	407						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTTGCCATGACCCTGAAGTAC	0.388000													68	66					0	0	0.003610	0	0
NHS	4810	broad.mit.edu	37	X	17744328	17744328	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:17744328C>T	ENST00000380060.3	+	6	2377	c.2039C>T	c.(2038-2040)tCc>tTc	p.S680F	NHS_ENST00000398097.3_Missense_Mutation_p.S524F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	680						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CGGGCAAACTCCTTTACCTCC	0.498000													90	127					0	0	0.003610	0	0
PTPRA	5786	broad.mit.edu	37	20	3005228	3005228	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:3005228C>T	ENST00000216877.6	+	16	1948	c.1548C>T	c.(1546-1548)atC>atT	p.I516I	PTPRA_ENST00000399903.2_Silent_p.I525I|PTPRA_ENST00000356147.3_Silent_p.I516I|PTPRA_ENST00000318266.5_Silent_p.I516I|PTPRA_ENST00000358719.4_Silent_p.I381I|PTPRA_ENST00000425918.2_Silent_p.I536I|PTPRA_ENST00000380393.3_Silent_p.I525I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	525					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACAACAAAATCCCAGGGACCA	0.443000													60	53					0	0	0.003610	0	0
C3orf72	401089	broad.mit.edu	37	3	138669293	138669293	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:138669293G>A	ENST00000383165.3	+	3	538	c.407G>A	c.(406-408)cGa>cAa	p.R136Q		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	136										large_intestine(1)|lung(3)	4						GCGGGACCCCGAAACACCCGG	0.657000													11	18					0	0	0.000978	0	0
EFR3A	23167	broad.mit.edu	37	8	133008661	133008661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:133008661C>T	ENST00000254624.5	+	19	2299	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*	EFR3A_ENST00000519656.1_Nonsense_Mutation_p.R656*|EFR3A_ENST00000334503.4_Nonsense_Mutation_p.R692*	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	692						plasma membrane	binding	p.R692*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AGATGAAGATCGACTTTCTAG	0.308000													12	9					0	0	0.001855	0	0
LRRC10	376132	broad.mit.edu	37	12	70004284	70004284	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:70004284T>G	ENST00000361484.3	-	1	658	c.335A>C	c.(334-336)gAc>gCc	p.D112A		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	112						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)			ACTGGGGAGGTCGCAGAGTTT	0.572000													29	28					0	0	0.002096	0	0
CPA5	93979	broad.mit.edu	37	7	130002769	130002769	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:130002769G>A	ENST00000485477.1	+	8	1810	c.681G>A	c.(679-681)ctG>ctA	p.L227L	CPA5_ENST00000355388.3_Silent_p.L227L|CPA5_ENST00000393213.3_Silent_p.L227L|CPA5_ENST00000474905.1_Silent_p.L227L|CPA5_ENST00000431780.2_Silent_p.L227L|CPA5_ENST00000466363.2_Silent_p.L227L|CPA5_ENST00000461828.1_Silent_p.L227L			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	227					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CAGACATACTGAATGCCATGG	0.532000													26	45					0	0	0.006320	0	0
OR1B1	347169	broad.mit.edu	37	9	125391515	125391515	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:125391515C>T	ENST00000304833.3	-	1	337	c.300G>A	c.(298-300)ttG>ttA	p.L100L	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						AGAACTGAGCCAAGCAGCGGG	0.517000													15	3					0	0	0.002450	0	0
POU3F4	5456	broad.mit.edu	37	X	82763704	82763704	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:82763704C>T	ENST00000373200.2	+	1	436	c.372C>T	c.(370-372)atC>atT	p.I124I	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	124					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						ACCCGTCTATCACGTCAAGCG	0.662000													16	15					0	0	0.006122	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33802058	33802058	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:33802058C>T	ENST00000260908.7	-	4	1768	c.1651G>A	c.(1651-1653)Gac>Aac	p.D551N	SLFN12L_ENST00000361112.4_Missense_Mutation_p.D580N|SLFN12L_ENST00000449046.1_Missense_Mutation_p.D582N	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	583						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TTTTCCAAGTCTTTCATTGTT	0.363000													13	6					0	0	0.001368	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834317	125834317	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:125834317C>T	ENST00000299308.3	+	2	380	c.372C>T	c.(370-372)atC>atT	p.I124I	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	124						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AATCCCACATCCTTGACAGCT	0.468000													60	57					0	0	0.003610	0	0
STARD13	90627	broad.mit.edu	37	13	33701591	33701591	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:33701591C>T	ENST00000336934.5	-	6	1957	c.1841G>A	c.(1840-1842)aGc>aAc	p.S614N	STARD13_ENST00000399365.3_Missense_Mutation_p.S496N|STARD13_ENST00000255486.4_Missense_Mutation_p.S606N	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	614					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTGGAGCAGGCTCAGCTGGCT	0.627000													3	4					0	0	0.004672	0	0
FMNL1	752	broad.mit.edu	37	17	43314976	43314976	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:43314976C>T	ENST00000331495.3	+	9	1200	c.864C>T	c.(862-864)atC>atT	p.I288I	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Silent_p.I288I	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	288	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GACATGACATCATCCTTGCAG	0.557000													63	90					0	0	0.003610	0	0
MED1	5469	broad.mit.edu	37	17	37580986	37580986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:37580986G>A	ENST00000300651.6	-	11	968	c.745C>T	c.(745-747)Cga>Tga	p.R249*	MED1_ENST00000394287.3_Nonsense_Mutation_p.R249*	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	249	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CCCAAAGATCGAGAAACTGGG	0.373000										HNSCC(31;0.082)			30	39					0	0	0.002096	0	0
LMX1A	4009	broad.mit.edu	37	1	165218847	165218847	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:165218847G>A	ENST00000342310.3	-	4	676	c.294C>T	c.(292-294)ttC>ttT	p.F98F	LMX1A_ENST00000294816.2_Silent_p.F98F|LMX1A_ENST00000367893.4_Silent_p.F98F	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	98	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CGATGGCCTCGAAGCAGCCCC	0.542000													38	0					0	0	0.007835	0	0
POTEG	404785	broad.mit.edu	37	14	19553590	19553590	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:19553590G>A	ENST00000409832.3	+	1	226	c.174G>A	c.(172-174)agG>agA	p.R58R		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	58								p.R58S(2)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACACTCAGGAGCAAGATGG	0.612000													75	464					0	0	0.003610	0	0
ATP5S	27109	broad.mit.edu	37	14	50789412	50789412	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:50789412C>T	ENST00000245448.6	+	3	1028	c.336C>T	c.(334-336)atC>atT	p.I112I	ATP5S_ENST00000358473.1_Silent_p.I84I|ATP5S_ENST00000426751.2_Silent_p.I112I|ATP5S_ENST00000311459.7_Silent_p.I112I|ATP5S_ENST00000554438.1_3'UTR	NM_001003805.2	NP_001003805.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	112					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		ACTCTTGTATCATGAGCATTG	0.468000													16	34					0	0	0.010504	0	0
DAB2	1601	broad.mit.edu	37	5	39377290	39377290	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:39377290C>T	ENST00000320816.6	-	12	2066	c.1599G>A	c.(1597-1599)atG>atA	p.M533I	DAB2_ENST00000509337.1_Missense_Mutation_p.M512I|DAB2_ENST00000339788.6_Missense_Mutation_p.M315I|DAB2_ENST00000545653.1_Missense_Mutation_p.M512I	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	533					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GTTGACCACCCATCATGGCTC	0.527000													39	32					0	0	0.007835	0	0
SOX4	6659	broad.mit.edu	37	6	21595725	21595725	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:21595725C>T	ENST00000244745.1	+	1	1754	c.960C>T	c.(958-960)gaC>gaT	p.D320D	SOX4_ENST00000543472.1_Silent_p.D320D	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	320					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			ACCCCAGCGACCCCCTGGGCC	0.776000													5	10					0	0	0.001168	0	0
RET	5979	broad.mit.edu	37	10	43615600	43615600	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:43615600C>T	ENST00000355710.3	+	15	2911	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	RET_ENST00000340058.5_Silent_p.F893F	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	893	Protein kinase.		F -> L (in HSCR1; sporadic form).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTTCGGATTTCGGCTTGTCCC	0.567000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				10	15					0	0	0.001368	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85024132	85024132	+	Silent	SNP	G	G	A	rs138250474		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:85024132G>A	ENST00000313732.4	-	3	445	c.93C>T	c.(91-93)tcC>tcT	p.S31S	ZDHHC7_ENST00000564466.1_Silent_p.S31S|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	31						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						CGTCAGCCTCGGAGGAGGAGG	0.577000													18	13					0	0	0.004990	0	0
ELAVL3	1995	broad.mit.edu	37	19	11576999	11576999	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:11576999C>T	ENST00000359227.3	-	3	745	c.321G>A	c.(319-321)acG>acA	p.T107T	ELAVL3_ENST00000438662.2_Silent_p.T107T	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	107	RRM 1.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGATGGTCTTCGTCTGTAATT	0.572000													22	22					0	0	0.002299	0	0
TLR2	7097	broad.mit.edu	37	4	154624805	154624805	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:154624805C>T	ENST00000260010.6	+	1	2154	c.746C>T	c.(745-747)tCa>tTa	p.S249L		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	249					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	p.S249L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GAAACAAATTCATTGATTAAA	0.313000													23	25					0	0	0.002299	0	0
PNLIP	5406	broad.mit.edu	37	10	118320013	118320013	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:118320013C>T	ENST00000369221.2	+	11	1174	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	382	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	ATAAAGGAAACTCTAAGCAGT	0.378000													9	19					0	0	0.006214	0	0
HCAR1	27198	broad.mit.edu	37	12	123214031	123214031	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:123214031G>A	ENST00000432564.1	-	1	1098	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	HCAR1_ENST00000356987.2_Missense_Mutation_p.P286S|HCAR1_ENST00000436083.2_Missense_Mutation_p.P286S	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	286					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						TAGAATTTGGGAAAGGAGGGG	0.498000													58	69					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13766175	13766175	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:13766175C>T	ENST00000265104.4	-	59	10115	c.10011G>A	c.(10009-10011)gtG>gtA	p.V3337V	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3337	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTCAATTTTCACAGCACTGA	0.493000									Kartagener syndrome				36	64					0	0	0.004878	0	0
CRB1	23418	broad.mit.edu	37	1	197390648	197390648	+	Translation_Start_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:197390648G>A	ENST00000367397.1	+	0	691				CRB1_ENST00000544212.1_Missense_Mutation_p.D45N|CRB1_ENST00000367400.3_Missense_Mutation_p.D564N|CRB1_ENST00000367399.2_Missense_Mutation_p.D452N|CRB1_ENST00000535699.1_Missense_Mutation_p.D495N|CRB1_ENST00000543483.1_Missense_Mutation_p.D263N|CRB1_ENST00000538660.1_Missense_Mutation_p.D564N			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAACACCAGCGATGGAGAGTG	0.458000													231	9					0	0	0.003610	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175075	143175075	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:143175075G>A	ENST00000408916.1	+	1	110	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	37					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GAGTGGCTGCGATATGGCAGG	0.557000													22	65					0	0	0.002096	0	0
C10orf71	118461	broad.mit.edu	37	10	50531107	50531107	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:50531107C>T	ENST00000374144.3	+	3	805	c.517C>T	c.(517-519)Cct>Tct	p.P173S	C10orf71_ENST00000323868.4_Missense_Mutation_p.P173S			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	173										endometrium(1)	1						TCTGAAAAATCCTCCCAAATT	0.502000													18	23					0	0	0.004990	0	0
CACNG2	10369	broad.mit.edu	37	22	36960495	36960495	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:36960495C>T	ENST00000300105.6	-	4	1856	c.875G>A	c.(874-876)aGg>aAg	p.R292K		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	292					membrane depolarization|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	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCTGTTATCCCTGTCGGAGTT	0.592000													14	29					0	0	0.004990	0	0
BRINP3	339479	broad.mit.edu	37	1	190067264	190067264	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:190067264G>A	ENST00000367462.3	-	8	2416	c.2185C>T	c.(2185-2187)Cgt>Tgt	p.R729C	FAM5C_ENST00000534846.1_Missense_Mutation_p.R627C|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		729						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGTCTATGACGAAGCAAGCAA	0.463000													56	128					0	0	0.003610	0	0
TMC3	342125	broad.mit.edu	37	15	81654585	81654585	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:81654585C>T	ENST00000558726.1	-	4	505	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	TMC3_ENST00000359440.5_Missense_Mutation_p.E124K			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	124						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATCCTCATTTCCCAGGGAATG	0.483000													7	6					0	0	0.001984	0	0
CCDC6	8030	broad.mit.edu	37	10	61552677	61552677	+	Nonstop_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:61552677A>G	ENST00000263102.6	-	9	1654	c.1423T>C	c.(1423-1425)Taa>Caa	p.*475Q		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	0						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CTCATGCATTAAGGCTGGGAG	0.562000			T	RET	NSCLC								45	73					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9074546	9074546	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9074546C>T	ENST00000397910.4	-	3	13103	c.12900G>A	c.(12898-12900)gaG>gaA	p.E4300E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4302	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						AGGACACTGTCTCAATCTCTG	0.517000													17	23					0	0	0.004007	0	0
RORB	6096	broad.mit.edu	37	9	77300446	77300446	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:77300446A>G	ENST00000376896.2	+	10	1904	c.1292A>G	c.(1291-1293)aAg>aGg	p.K431R	RORB_ENST00000396204.2_Missense_Mutation_p.K442R	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	442	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CAGGTATTTAAGCAATCTCAT	0.478000													49	4					0	0	0.003610	0	0
ATP5O	539	broad.mit.edu	37	21	35275893	35275893	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:35275893A>T	ENST00000290299.2	-	7	795	c.579T>A	c.(577-579)taT>taA	p.Y193*	AP000304.12_ENST00000429238.1_Intron	NM_001697.2	NP_001688.1			ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit											large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						ACATGTCAACATATTTCTCGC	0.423000													39	29					0	0	0.002522	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736483	26736483	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:26736483G>A	ENST00000529632.2	+	10	2293	c.2097G>A	c.(2095-2097)ggG>ggA	p.G699G	SEZ6L_ENST00000404234.3_Silent_p.G699G|SEZ6L_ENST00000248933.6_Silent_p.G699G|SEZ6L_ENST00000343706.4_Silent_p.G699G|SEZ6L_ENST00000360929.3_Silent_p.G699G|SEZ6L_ENST00000403121.1_Silent_p.G472G|SEZ6L_ENST00000402979.1_Silent_p.G472G	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	699	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGTACCTTGGGAACAGTGGCC	0.547000													47	51					0	0	0.003610	0	0
SYNJ2	8871	broad.mit.edu	37	6	158484847	158484847	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:158484847G>A	ENST00000355585.4	+	9	1227	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	SYNJ2_ENST00000449859.2_Missense_Mutation_p.M312I|SYNJ2_ENST00000367121.3_Missense_Mutation_p.M384I|SYNJ2_ENST00000367122.2_Missense_Mutation_p.M384I	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	384	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTTTGCGGATGAACTGTCTTG	0.512000													54	9					0	0	0.003610	0	0
SEC16B	89866	broad.mit.edu	37	1	177908848	177908848	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:177908848C>T	ENST00000308284.6	-	18	2281	c.2192G>A	c.(2191-2193)gGa>gAa	p.G731E	RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	731					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGTTGTTGTTCCTCCGGCTCC	0.418000													14	1					0	0	0.004990	0	0
HMCN1	83872	broad.mit.edu	37	1	186062788	186062788	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:186062788G>A	ENST00000271588.4	+	66	10412	c.10183G>A	c.(10183-10185)Gga>Aga	p.G3395R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3395R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3395	Ig-like C2-type 32.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTGGCAGCAGGACAAGTTAT	0.433000													37	126					0	0	0.009718	0	0
PRDX2	7001	broad.mit.edu	37	19	12911708	12911708	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:12911708C>T	ENST00000435703.1	-	3	428	c.279G>A	c.(277-279)agG>agA	p.R93R	PRDX2_ENST00000334482.5_Intron|CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000301522.2_Intron			P32119	PRDX2_HUMAN	peroxiredoxin 2	92	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						ctgcaacctccctctttggcc	0.577000													3	3					0	0	0.004672	0	0
CD163	9332	broad.mit.edu	37	12	7632467	7632467	+	Nonstop_Mutation	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:7632467A>T	ENST00000359156.4	-	16	3671	c.3469T>A	c.(3469-3471)Taa>Aaa	p.*1157K	CD163_ENST00000396620.3_3'UTR|CD163_ENST00000541972.1_3'UTR|CD163_ENST00000432237.2_3'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	0					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCACTGGGTTATAAATTCCCA	0.388000													20	29					0	0	0.002299	0	0
AMFR	267	broad.mit.edu	37	16	56423199	56423199	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:56423199C>T	ENST00000290649.5	-	9	1384	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	392					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGATGTTCTTCCCTGACACGA	0.453000													36	49					0	0	0.005524	0	0
ITGAL	3683	broad.mit.edu	37	16	30515547	30515547	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:30515547C>T	ENST00000356798.6	+	18	2377	c.2197C>T	c.(2197-2199)Ctt>Ttt	p.L733F	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.L650F	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	733					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GAATTTCTCTCTTTGGGAGGA	0.473000													25	49					0	0	0.009535	0	0
CD109	135228	broad.mit.edu	37	6	74516767	74516767	+	Missense_Mutation	SNP	C	C	T	rs141815508		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:74516767C>T	ENST00000437994.2	+	25	3592	c.3161C>T	c.(3160-3162)aCt>aTt	p.T1054I	CD109_ENST00000287097.5_Missense_Mutation_p.T1054I|CD109_ENST00000422508.2_Missense_Mutation_p.T977I	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1054						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATATTGTAACTTCTCTCCTG	0.363000													14	3					0	0	0.004007	0	0
SLC22A24	283238	broad.mit.edu	37	11	62911098	62911098	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:62911098G>T	ENST00000417740.1	-	1	595	c.154C>A	c.(154-156)Ccc>Acc	p.P52T	SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Missense_Mutation_p.P52T	NM_001136506.2	NP_001129978.2			solute carrier family 22, member 24											kidney(1)|stomach(1)	2						TCCAGGAGGGGGACCCAGCAG	0.502000													17	7					2.94398e-08	5.18104e-08	0.007413	1	0
C7orf63	79846	broad.mit.edu	37	7	89897657	89897657	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:89897657T>A	ENST00000389297.4	+	6	742	c.491T>A	c.(490-492)gTt>gAt	p.V164D	AC002064.4_ENST00000420245.1_RNA|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Intron|C7orf63_ENST00000316089.8_Missense_Mutation_p.V164D	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	164							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AAGTGTATTGTTGATTTTTAT	0.338000													19	43					0	0	0.010504	0	0
CLCN4	1183	broad.mit.edu	37	X	10181893	10181893	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:10181893C>T	ENST00000380833.4	+	11	2140	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	CLCN4_ENST00000380829.1_Silent_p.F552F|CLCN4_ENST00000421085.2_Silent_p.F489F	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	583						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGTACCCTTTCCTTGACGTGA	0.607000													36	32					0	0	0.004289	0	0
NLRP3	114548	broad.mit.edu	37	1	247587682	247587682	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:247587682G>A	ENST00000366497.2	+	4	1717	c.937G>A	c.(937-939)Gag>Aag	p.E313K	NLRP3_ENST00000366496.2_Missense_Mutation_p.E313K|NLRP3_ENST00000336119.3_Missense_Mutation_p.E313K|NLRP3_ENST00000391828.3_Missense_Mutation_p.E313K|NLRP3_ENST00000391827.2_Missense_Mutation_p.E313K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.E313K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	313	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGCCTTTGACGAGCACATAGG	0.577000													125	6					0	0	0.003610	0	0
DAB1	1600	broad.mit.edu	37	1	57476871	57476871	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:57476871C>T	ENST00000371236.2	-	13	1782	c.1519G>A	c.(1519-1521)Gac>Aac	p.D507N	DAB1_ENST00000371234.4_Missense_Mutation_p.D507N|DAB1_ENST00000439789.2_Missense_Mutation_p.D421N|DAB1_ENST00000371231.1_Missense_Mutation_p.D540N|DAB1_ENST00000420954.2_Missense_Mutation_p.D505N|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.D489N			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	540					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCAAAGATGTCATCTGTGGTA	0.443000													80	5					0	0	0.003610	0	0
MLKL	197259	broad.mit.edu	37	16	74729212	74729212	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:74729212G>A	ENST00000308807.7	-	2	907	c.444C>T	c.(442-444)ttC>ttT	p.F148F	MLKL_ENST00000306247.7_Silent_p.F148F	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	148							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TTAGCATCTGGAAAGCTCGCC	0.498000													40	46					0	0	0.007835	0	0
KLHL26	55295	broad.mit.edu	37	19	18779689	18779689	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:18779689G>A	ENST00000300976.4	+	3	1572	c.1482G>A	c.(1480-1482)atG>atA	p.M494I	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	494										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGGCGCCCATGAGCGAACCCC	0.672000													28	23					0	0	0.009535	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669980	24669980	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:24669980G>A	ENST00000376454.3	+	3	567	c.537G>A	c.(535-537)acG>acA	p.T179T	KIAA1217_ENST00000458595.1_Silent_p.T179T|KIAA1217_ENST00000376462.1_Silent_p.T99T|KIAA1217_ENST00000430453.2_Silent_p.T100T|KIAA1217_ENST00000376452.3_Silent_p.T179T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	179					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCAACCAGACGAAAGAAAGAT	0.478000													25	35					0	0	0.004656	0	0
ZBTB41	360023	broad.mit.edu	37	1	197160868	197160868	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:197160868T>A	ENST00000367405.4	-	2	1350	c.1282A>T	c.(1282-1284)Aat>Tat	p.N428Y	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGAAGTTTATTACAATAAGGG	0.343000													27	33					0	0	0.005443	0	0
LAMC3	10319	broad.mit.edu	37	9	133907434	133907434	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:133907434G>A	ENST00000361069.4	+	3	814	c.681G>A	c.(679-681)gaG>gaA	p.E227E	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	227	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGCCCCAGGAGTGGGTCACCA	0.577000													49	6					0	0	0.003610	0	0
ZNF768	79724	broad.mit.edu	37	16	30536828	30536828	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:30536828G>A	ENST00000380412.5	-	2	808	c.633C>T	c.(631-633)ccC>ccT	p.P211P	ZNF768_ENST00000562803.1_Silent_p.P180P	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	211					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GTGGCCCTATGGGCAGGTCCC	0.582000													29	50					0	0	0.002096	0	0
VWA8	23078	broad.mit.edu	37	13	42179322	42179322	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:42179322G>A	ENST00000379310.3	-	40	5036	c.4968C>T	c.(4966-4968)atC>atT	p.I1656I		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TATCCAGGATGATTCGGAGGG	0.433000													43	42					0	0	0.003610	0	0
TMC5	79838	broad.mit.edu	37	16	19468246	19468246	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:19468246C>T	ENST00000219821.5	+	1	475	c.218C>T	c.(217-219)tCa>tTa	p.S73L	TMC5_ENST00000381414.4_Intron|TMC5_ENST00000564959.1_Intron|TMC5_ENST00000561503.1_Intron|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000396229.2_Intron|TMC5_ENST00000542583.2_Intron	NM_024780.4	NP_079056.2	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	0						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTGCGGTTTTCAACATCTTTG	0.428000													14	21					0	0	0.003163	0	0
BAIAP3	8938	broad.mit.edu	37	16	1391445	1391445	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:1391445T>G	ENST00000324385.5	+	8	949	c.791T>G	c.(790-792)gTg>gGg	p.V264G	BAIAP3_ENST00000568887.1_Missense_Mutation_p.V201G|BAIAP3_ENST00000562208.1_Missense_Mutation_p.V206G|BAIAP3_ENST00000397489.1_Missense_Mutation_p.V246G|BAIAP3_ENST00000397488.2_Missense_Mutation_p.V246G|BAIAP3_ENST00000426824.3_Missense_Mutation_p.V229G|BAIAP3_ENST00000421665.2_Missense_Mutation_p.V229G	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	264	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GTCACCGAGGTGAAGAGCAGC	0.682000													30	44					0	0	0.004289	0	0
THOC6	79228	broad.mit.edu	37	16	3077227	3077227	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:3077227C>T	ENST00000326266.8	+	11	1052	c.756C>T	c.(754-756)acC>acT	p.T252T	THOC6_ENST00000253952.9_Silent_p.T252T|THOC6_ENST00000574549.1_Silent_p.T228T|THOC6_ENST00000575576.1_Silent_p.T228T	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	252					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CCACACCCACCACCATCTTCC	0.637000													26	34					0	0	0.005443	0	0
BTBD17	388419	broad.mit.edu	37	17	72356380	72356380	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:72356380C>T	ENST00000375366.3	-	2	216	c.90G>A	c.(88-90)caG>caA	p.Q30Q		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	30						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						CATCGGCTCTCTGTGCTGCAG	0.647000													6	6					0	0	0.003080	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011373	105011373	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:105011373G>A	ENST00000372582.1	+	11	2536	c.1780G>A	c.(1780-1782)Gcc>Acc	p.A594T	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A594T|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.A199T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	594					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAGTACTTCAGCCACTCTGGT	0.473000													50	41					0	0	0.003610	0	0
CEACAM16	388551	broad.mit.edu	37	19	45207314	45207314	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:45207314G>C	ENST00000587331.1	+	4	624	c.409G>C	c.(409-411)Gcc>Ccc	p.A137P	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.A137P	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	137										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CACAGTCTTGGCCAACAGCAC	0.667000													22	17					0	0	0.003954	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343277	130343277	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:130343277G>A	ENST00000299164.2	+	8	2414	c.2414G>A	c.(2413-2415)cGg>cAg	p.R805Q		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	805	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R805L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AAAGAGCCTCGGGAGGACAAG	0.652000													72	8					0	0	0.003610	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365821	7365821	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:7365821G>A	ENST00000311403.4	-	4	2819	c.2480C>T	c.(2479-2481)tCc>tTc	p.S827F	ZBTB4_ENST00000380599.4_Missense_Mutation_p.S827F	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	827					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CTCACCGCTGGATGAGGAGAC	0.632000													9	12					0	0	0.006214	0	0
MATN4	8785	broad.mit.edu	37	20	43933247	43933247	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:43933247G>A	ENST00000537548.1	-	4	508	c.264C>T	c.(262-264)ctC>ctT	p.L88L	MATN4_ENST00000372754.1_Silent_p.L88L|MATN4_ENST00000372756.1_Silent_p.L88L|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000353917.5_Silent_p.L88L|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000360607.5_Silent_p.L88L|MATN4_ENST00000342716.4_Silent_p.L88L			O95460	MATN4_HUMAN	matrilin 4	88	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGAACGCGCGGAGAGGGAAGA	0.642000													12	20					0	0	0.004007	0	0
POTEF	728378	broad.mit.edu	37	2	130877834	130877834	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:130877834G>A	ENST00000357462.5	-	1	348	c.255C>T	c.(253-255)gaC>gaT	p.D85D	POTEF_ENST00000361163.4_Silent_p.D85D|POTEF_ENST00000409914.2_Silent_p.D85D|POTEF_ENST00000360967.5_Silent_p.D85D			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	85						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGTCGTCGTGGTCTCCAGAAG	0.607000													35	238					0	0	0.003610	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169987	32169987	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32169987G>A	ENST00000375023.3	-	21	3759	c.3621C>T	c.(3619-3621)gtC>gtT	p.V1207V		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1207					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGGGGTCTGGGACTCCCAGAG	0.642000													181	110					0	0	0.003610	0	0
RDX	5962	broad.mit.edu	37	11	110134900	110134900	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:110134900G>A	ENST00000343115.4	-	5	571	c.252C>T	c.(250-252)ttC>ttT	p.F84F	RDX_ENST00000528900.1_Intron|RDX_ENST00000544551.1_Intron|RDX_ENST00000528498.1_Silent_p.F84F|RDX_ENST00000530301.1_Silent_p.F52F|RDX_ENST00000405097.1_Silent_p.F84F	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	84	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTTCAGGAAAGAATTTAGCTC	0.313000													24	1					0	0	0.002780	0	0
LTBP1	4052	broad.mit.edu	37	2	33500955	33500955	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:33500955G>A	ENST00000404816.2	+	18	3310	c.2957G>A	c.(2956-2958)aGc>aAc	p.S986N	LTBP1_ENST00000418533.2_Missense_Mutation_p.S660N|LTBP1_ENST00000404525.1_Missense_Mutation_p.S607N|LTBP1_ENST00000390003.4_Missense_Mutation_p.S661N|LTBP1_ENST00000354476.3_Missense_Mutation_p.S987N|LTBP1_ENST00000407925.1_Missense_Mutation_p.S660N|LTBP1_ENST00000402934.1_Missense_Mutation_p.S607N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	986	EGF-like 6; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TACTGTGACAGCGGGTACCGC	0.577000													34	46					0	0	0.002836	0	0
ZNF502	91392	broad.mit.edu	37	3	44763128	44763128	+	Silent	SNP	G	G	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:44763128G>C	ENST00000296091.4	+	4	1075	c.819G>C	c.(817-819)ggG>ggC	p.G273G	ZNF502_ENST00000449836.1_Silent_p.G273G|ZNF502_ENST00000436624.2_Silent_p.G273G	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ATAGGTGTGGGAAGGCATTCA	0.408000													86	111					0	0	0.003610	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41751783	41751783	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:41751783C>T	ENST00000352645.4	+	19	2448	c.2191C>T	c.(2191-2193)Ctt>Ttt	p.L731F	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.L731F	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	747					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GCGGCGGGTCCTTCTGGTGAT	0.602000													10	9					0	0	0.008291	0	0
HCN4	10021	broad.mit.edu	37	15	73635981	73635981	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:73635981G>A	ENST00000261917.3	-	2	1947	c.954C>T	c.(952-954)atC>atT	p.I318I		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	318					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCTCCACCACGATCCCTGTGC	0.493000													14	15					0	0	0.002450	0	0
ROS1	6098	broad.mit.edu	37	6	117724305	117724305	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:117724305C>T	ENST00000368508.3	-	6	772	c.574G>A	c.(574-576)Gga>Aga	p.G192R	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G201R	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	192					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACCATACCTCCATGAGGATGA	0.413000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								42	3					0	0	0.003610	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52854826	52854826	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:52854826C>T	ENST00000451298.1	-	0	457				RP11-64P12.8_ENST00000606031.1_RNA																							CCATCACTTTCGTATCACCTT	0.284000													23	80					0	0	0.004656	0	0
ZNF836	162962	broad.mit.edu	37	19	52663789	52663789	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:52663789G>A	ENST00000322146.8	-	4	592	c.71C>T	c.(70-72)tCc>tTc	p.S24F	ZNF836_ENST00000597252.1_Missense_Mutation_p.S24F|CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597065.1_Missense_Mutation_p.S24F	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGGGTCCAGGGATTTCCACTC	0.443000													63	71					0	0	0.003610	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553447	140553447	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140553447G>A	ENST00000231137.3	+	1	1205	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		344	Cadherin 3.				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)			AACGATAATCGACCCGAGCTG	0.458000													16	32					0	0	0.004007	0	0
MED16	10025	broad.mit.edu	37	19	885838	885838	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:885838G>A	ENST00000312090.6	-	5	961	c.811C>T	c.(811-813)Ctc>Ttc	p.L271F	MED16_ENST00000395808.3_Missense_Mutation_p.L271F|MED16_ENST00000589119.1_Missense_Mutation_p.L271F|MED16_ENST00000269814.4_Missense_Mutation_p.L271F|MED16_ENST00000325464.1_Missense_Mutation_p.L271F|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	271					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCGGTTGAGGTCGGTGGTG	0.632000													16	30					0	0	0.006122	0	0
MYLK	4638	broad.mit.edu	37	3	123512533	123512533	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:123512533G>A	ENST00000360772.3	-	5	534	c.156C>T	c.(154-156)ttC>ttT	p.F52F	MYLK_ENST00000360304.3_Silent_p.F52F|MYLK_ENST00000475616.1_Silent_p.F52F|MYLK_ENST00000346322.5_Silent_p.F52F|MYLK_ENST00000359169.1_Silent_p.F52F			Q15746	MYLK_HUMAN	myosin light chain kinase	52	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.F52F(2)		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)		CCCGCCCTTCGAACTTGGCGG	0.602000													22	22					0	0	0.003954	0	0
CARKD	55739	broad.mit.edu	37	13	111277558	111277558	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:111277558T>C	ENST00000309957.2	+	4	333	c.319T>C	c.(319-321)Ttc>Ctc	p.F107L	CARKD_ENST00000458711.2_Intron|CARKD_ENST00000470164.2_Intron|CARKD_ENST00000397191.4_Intron|CARKD_ENST00000424185.2_Intron	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	107	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						GTCCCACGTGTTCTGTGCCAG	0.642000													16	25					0	0	0.006122	0	0
VPS9D1	9605	broad.mit.edu	37	16	89774838	89774838	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:89774838T>A	ENST00000561976.1	-	13	1966	c.1589A>T	c.(1588-1590)gAg>gTg	p.E530V	VPS9D1_ENST00000389386.3_Missense_Mutation_p.E600V					VPS9 domain containing 1																		GGTCTACCCCTCGTGGATGAA	0.647000													3	3					0	0	0.009096	0	0
HNF4G	3174	broad.mit.edu	37	8	76465357	76465357	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:76465357G>A	ENST00000396423.2	+	5	664	c.540G>A	c.(538-540)atG>atA	p.M180I	HNF4G_ENST00000354370.1_Missense_Mutation_p.M143I	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	143					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTGAATCTATGAAACAGCAGC	0.368000													38	45					0	0	0.005524	0	0
VSX2	338917	broad.mit.edu	37	14	74707911	74707911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:74707911C>T	ENST00000261980.2	+	2	487	c.397C>T	c.(397-399)Cga>Tga	p.R133*		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	133	Ser/Thr-rich.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		CTCCAGCGATCGAAAAATGTC	0.597000													23	32					0	0	0.003954	0	0
MALAT1	378938	broad.mit.edu	37	11	65273927	65273927	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:65273927G>A	ENST00000534336.1	+	0	8695					NR_002819.2																						TAATAAAAATGGAGAAGCTCT	0.363000													7	12					0	0	0.006214	0	0
PTPRN2	5799	broad.mit.edu	37	7	157414156	157414156	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:157414156C>T	ENST00000389413.3	-	14	2258	c.2155G>A	c.(2155-2157)Gag>Aag	p.E719K	PTPRN2_ENST00000389416.4_Missense_Mutation_p.E731K|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E710K|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E771K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.E748K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	748						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCTTCCCACTCCTTCTCCAGC	0.627000													170	84					0	0	0.003610	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433197	72433197	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:72433197C>T	ENST00000373517.3	-	1	1487	c.1132G>A	c.(1132-1134)Gga>Aga	p.G378R	NAP1L2_ENST00000536638.1_Missense_Mutation_p.G236R	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	378					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GAGGTGATTCCATGAGGAGAG	0.353000													25	24					0	0	0.003330	0	0
BIN2	51411	broad.mit.edu	37	12	51685437	51685437	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:51685437C>T	ENST00000267012.4	-	10	1514	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	BIN2_ENST00000452142.2_Missense_Mutation_p.E453K|BIN2_ENST00000544402.1_Missense_Mutation_p.E459K|BIN2_ENST00000604560.1_Missense_Mutation_p.E458K	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	485						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TGGATGTTTTCATTTTCTTTG	0.443000													15	18					0	0	0.004990	0	0
RAB3C	115827	broad.mit.edu	37	5	58021869	58021869	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:58021869C>T	ENST00000282878.4	+	3	462	c.293C>T	c.(292-294)gCc>gTc	p.A98V	RAB3C_ENST00000507977.1_3'UTR	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	98					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		ATCACCACAGCCTATTATCGT	0.358000													37	49					0	0	0.007835	0	0
FGA	2243	broad.mit.edu	37	4	155509998	155509998	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:155509998G>A	ENST00000302053.3	-	3	389	c.311C>T	c.(310-312)tCg>tTg	p.S104L	FGA_ENST00000403106.3_Missense_Mutation_p.S104L	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	104					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGTGGTCAACGAATGAGAATC	0.294000													88	98					0	0	0.003610	0	0
RPS18	6222	broad.mit.edu	37	6	33240417	33240417	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:33240417C>T	ENST00000439602.2	+	2	126	c.16C>T	c.(16-18)Cct>Tct	p.P6S	RPS18_ENST00000474973.1_5'UTR|RPS18_ENST00000476222.1_3'UTR			P62269	RS18_HUMAN	ribosomal protein S18	6					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						TCTAGTGATCCCTGAAAAGTT	0.428000													62	195					0	0	0.003610	0	0
PSG5	5673	broad.mit.edu	37	19	43679591	43679591	+	Missense_Mutation	SNP	G	G	A	rs144866823		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:43679591G>A	ENST00000404580.1	-	4	828	c.740C>T	c.(739-741)tCa>tTa	p.S247L	PSG5_ENST00000599812.1_Missense_Mutation_p.S340L|PSG5_ENST00000407356.1_Missense_Mutation_p.S247L|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Missense_Mutation_p.S247L|PSG5_ENST00000366175.3_Missense_Mutation_p.S247L			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	247	Ig-like C2-type 2.				female pregnancy	extracellular region		p.S247L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATAGGTGAATGAAGGGTAAAT	0.483000													88	106					0	0	0.003610	0	0
DIP2A	23181	broad.mit.edu	37	21	47986563	47986563	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:47986563C>T	ENST00000318711.7	+	37	4616	c.4433C>T	c.(4432-4434)tCt>tTt	p.S1478F	DIP2A_ENST00000417564.2_Missense_Mutation_p.S1477F|DIP2A_ENST00000400274.1_Missense_Mutation_p.S1473F|DIP2A_ENST00000479654.1_3'UTR	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1477					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ATTGAGACCTCTGTCATCCGA	0.592000													25	37					0	0	0.006320	0	0
HTR4	3360	broad.mit.edu	37	5	147830769	147830769	+	Silent	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:147830769T>C	ENST00000354217.2	-	7	1306	c.1143A>G	c.(1141-1143)gaA>gaG	p.E381E	HTR4_ENST00000521530.1_Silent_p.E381E|HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000314512.6_3'UTR			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	ATTCCAGGGATTCTGGGTCAT	0.463000													121	141					0	0	0.003610	0	0
CDH12	1010	broad.mit.edu	37	5	21842282	21842282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:21842282G>A	ENST00000382254.1	-	8	1888	c.802C>T	c.(802-804)Cga>Tga	p.R268*	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Nonsense_Mutation_p.R268*|CDH12_ENST00000522262.1_Nonsense_Mutation_p.R228*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	268	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTGGGGAATCGAGGTGGATTG	0.403000										HNSCC(59;0.17)			48	47					0	0	0.003610	0	0
MOSPD1	56180	broad.mit.edu	37	X	134030969	134030969	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:134030969C>T	ENST00000370783.3	-	4	512	c.326G>A	c.(325-327)gGa>gAa	p.G109E	MOSPD1_ENST00000370779.4_Missense_Mutation_p.G109E|MOSPD1_ENST00000491609.1_5'UTR|MOSPD1_ENST00000370777.1_Missense_Mutation_p.G109E	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	109	MSP.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					CTCTTTTCTTCCCAAAGCCTT	0.388000													75	146					0	0	0.003610	0	0
FZD10	11211	broad.mit.edu	37	12	130648761	130648761	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:130648761G>A	ENST00000229030.4	+	1	1758	c.1274G>A	c.(1273-1275)aGg>aAg	p.R425K	FZD10_ENST00000539839.1_Silent_p.E392E			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	425					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CACATCCGGAGGGTGATGAAG	0.622000													24	31					0	0	0.003330	0	0
RPN2	6185	broad.mit.edu	37	20	35838557	35838557	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:35838557C>T	ENST00000237530.6	+	8	1286	c.975C>T	c.(973-975)ttC>ttT	p.F325F	RPN2_ENST00000373622.5_Silent_p.F293F	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	325					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				AGACATCCTTCACCCCTGTAG	0.468000													36	45					0	0	0.003755	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309866	22309866	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:22309866G>A	ENST00000390433.1	+	0	250																											AAGGTTTACAGCACAGCTCAA	0.473000													50	64					0	0	0.003610	0	0
POU3F4	5456	broad.mit.edu	37	X	82763472	82763472	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:82763472C>T	ENST00000373200.2	+	1	204	c.140C>T	c.(139-141)cCc>cTc	p.P47L	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	47					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CAGGGAGTTCCCAGCAATGGG	0.622000													10	11					0	0	0.008291	0	0
PLCE1	51196	broad.mit.edu	37	10	96064324	96064324	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:96064324G>A	ENST00000260766.3	+	25	6178	c.5544G>A	c.(5542-5544)aaG>aaA	p.K1848K	PLCE1_ENST00000371385.3_Silent_p.K1540K|PLCE1_ENST00000371375.1_Silent_p.K1540K|PLCE1_ENST00000371380.2_Silent_p.K1848K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1848					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTGGGACAAGAACTGCCCCA	0.413000													51	72					0	0	0.003610	0	0
PLCL2	23228	broad.mit.edu	37	3	17056385	17056385	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:17056385C>T	ENST00000418129.2	+	3	3087	c.2622C>T	c.(2620-2622)atC>atT	p.I874I	PLCL2_ENST00000432376.1_Silent_p.I874I|PLCL2_ENST00000396755.2_Silent_p.I874I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1000					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGAAGAAGATCGTAACAACTT	0.483000													46	60					0	0	0.002852	0	0
SDR16C5	195814	broad.mit.edu	37	8	57221505	57221505	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:57221505C>T	ENST00000396721.2	-	3	545	c.415G>A	c.(415-417)Gga>Aga	p.G139R	SDR16C5_ENST00000303749.3_Missense_Mutation_p.G183R|SDR16C5_ENST00000522671.1_Missense_Mutation_p.G183R			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	183					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CCATTTACTCCACTTAATCCA	0.348000													39	28					0	0	0.008740	0	0
RRAD	6236	broad.mit.edu	37	16	66956004	66956004	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:66956004G>A	ENST00000299759.6	-	5	1152	c.902C>T	c.(901-903)tCc>tTc	p.S301F	RRAD_ENST00000420652.1_Missense_Mutation_p.S301F			P55042	RAD_HUMAN	Ras-related associated with diabetes	301					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GTCGTGGCAGGACTTGGATTT	0.632000													9	10					0	0	0.006214	0	0
TACC2	10579	broad.mit.edu	37	10	123842254	123842254	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:123842254C>T	ENST00000369005.1	+	4	579	c.239C>T	c.(238-240)cCa>cTa	p.P80L	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.P80L|TACC2_ENST00000515273.1_Missense_Mutation_p.P80L|TACC2_ENST00000453444.2_Missense_Mutation_p.P80L|TACC2_ENST00000334433.3_Missense_Mutation_p.P80L|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	80						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTGACTGAGCCAAGGAAGGAC	0.612000													33	39					0	0	0.002096	0	0
SSPO	23145	broad.mit.edu	37	7	149486319	149486319	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:149486319C>T	ENST00000378016.2	+	0	4295							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCCCCTGGCCCTGCTCTGT	0.672000													23	16					0	0	0.006320	0	0
COL4A1	1282	broad.mit.edu	37	13	110850904	110850904	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:110850904G>A	ENST00000375820.4	-	21	1316	c.1195C>T	c.(1195-1197)Cct>Tct	p.P399S	COL4A1_ENST00000543140.1_Missense_Mutation_p.P399S	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	399	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)			GATGTACCAGGAAATCCTCGG	0.607000													31	31					0	0	0.002836	0	0
PIGZ	80235	broad.mit.edu	37	3	196675001	196675001	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:196675001C>T	ENST00000412723.1	-	3	913	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	PIGZ_ENST00000443835.1_3'UTR	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	256					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		CAGGGCCTCCCGGGTCAGAGA	0.622000													12	7					0	0	0.001855	0	0
CCDC92	80212	broad.mit.edu	37	12	124422086	124422086	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:124422086G>A	ENST00000545135.1	-	3	3760	c.464C>T	c.(463-465)tCc>tTc	p.S155F	CCDC92_ENST00000238156.3_Missense_Mutation_p.S172F|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.S155F			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	172										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GGTCCCGCTGGAGCTCATGAG	0.667000													15	24					0	0	0.002450	0	0
AOAH	313	broad.mit.edu	37	7	36633966	36633966	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:36633966C>T	ENST00000431169.1	-	12	1217	c.917G>A	c.(916-918)gGa>gAa	p.G306E	AOAH_ENST00000538464.1_Missense_Mutation_p.G28E|AOAH_ENST00000258749.5_Missense_Mutation_p.G306E|AOAH_ENST00000535891.1_Missense_Mutation_p.G274E	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	306					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GTCCAGAAATCCTGTAGCACC	0.443000													56	49					0	0	0.003610	0	0
BOD1L1	259282	broad.mit.edu	37	4	13601364	13601364	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:13601364G>A	ENST00000040738.5	-	10	7295	c.7160C>T	c.(7159-7161)cCt>cTt	p.P2387L		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2387							DNA binding										GACTGGCCCAGGACACCGACA	0.602000													45	50					0	0	0.009718	0	0
MYH8	4626	broad.mit.edu	37	17	10301804	10301804	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:10301804C>T	ENST00000403437.2	-	30	4229	c.4135G>A	c.(4135-4137)Gag>Aag	p.E1379K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1379					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			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						GCATCCGTCTCGTATTTGGTT	0.542000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				84	154					0	0	0.003610	0	0
LDHC	3948	broad.mit.edu	37	11	18456337	18456337	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:18456337C>T	ENST00000541669.1	+	5	580	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	LDHC_ENST00000535809.1_Missense_Mutation_p.R157C|LDHC_ENST00000536880.1_Missense_Mutation_p.R143C|LDHC_ENST00000280704.4_Missense_Mutation_p.R157C|LDHC_ENST00000544105.1_Missense_Mutation_p.R157C|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000546146.1_Missense_Mutation_p.R99C			P07864	LDHC_HUMAN	lactate dehydrogenase C	157					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	ACCTGTAACTCGTGTAATTGG	0.368000													63	82					0	0	0.003610	0	0
SYNE1	23345	broad.mit.edu	37	6	152737899	152737899	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:152737899C>T	ENST00000367255.5	-	41	6274	c.5673G>A	c.(5671-5673)gtG>gtA	p.V1891V	SYNE1_ENST00000265368.4_Silent_p.V1891V|SYNE1_ENST00000448038.1_Silent_p.V1898V|SYNE1_ENST00000423061.1_Silent_p.V1898V|SYNE1_ENST00000341594.5_Silent_p.V1928V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1891					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGTTGCTTCCACTGTTTGCC	0.493000										HNSCC(10;0.0054)			25	3					0	0	0.003954	0	0
MAPK4	5596	broad.mit.edu	37	18	48190365	48190365	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:48190365G>A	ENST00000400384.2	+	2	1073	c.37G>A	c.(37-39)Ggg>Agg	p.G13R	MAPK4_ENST00000592595.1_Missense_Mutation_p.G13R|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.G13R	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	13					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CAGTGTCTATGGGTATGACCT	0.602000													34	41					0	0	0.004289	0	0
DUSP27	92235	broad.mit.edu	37	1	167096085	167096085	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:167096085G>A	ENST00000361200.2	+	6	1883	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.E573K|DUSP27_ENST00000271385.5_Missense_Mutation_p.E573K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	573					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCCCGGTGCAGAGGAGGCAGT	0.552000													78	2					0	0	0.003610	0	0
ACO1	48	broad.mit.edu	37	9	32419074	32419074	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:32419074C>T	ENST00000379923.1	+	8	903	c.697C>T	c.(697-699)Cag>Tag	p.Q233*	ACO1_ENST00000309951.5_Nonsense_Mutation_p.Q233*|ACO1_ENST00000541043.1_Nonsense_Mutation_p.Q134*	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	233					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CATGCTGGGTCAGCCAATCAG	0.512000													22	21					0	0	0.001882	0	0
AHNAK	79026	broad.mit.edu	37	11	62285541	62285541	+	Missense_Mutation	SNP	G	G	A	rs139375615	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:62285541G>A	ENST00000378024.4	-	5	16622	c.16348C>T	c.(16348-16350)Ccg>Tcg	p.P5450S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5450					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACATTCGGTGCTGAAATC	0.567000													33	50					0	0	0.002836	0	0
CD99L2	83692	broad.mit.edu	37	X	149945929	149945929	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:149945929C>T	ENST00000370377.3	-	8	640	c.523G>A	c.(523-525)Gac>Aac	p.D175N	CD99L2_ENST00000355149.3_Missense_Mutation_p.D103N|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Missense_Mutation_p.D126N|CD99L2_ENST00000437787.2_Missense_Mutation_p.D102N	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	175					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GATCCAGGGTCGTCATTGCTG	0.547000													29	67					0	0	0.002096	0	0
GRID2	2895	broad.mit.edu	37	4	94690473	94690473	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:94690473G>A	ENST00000282020.4	+	15	2731	c.2473G>A	c.(2473-2475)Gcc>Acc	p.A825T	GRID2_ENST00000510992.1_Missense_Mutation_p.A730T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	825					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GAAAGGAGGCGCCCTGGACAT	0.517000													36	35					0	0	0.005524	0	0
DRP2	1821	broad.mit.edu	37	X	100515075	100515075	+	Missense_Mutation	SNP	C	C	T	rs34562102		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:100515075C>T	ENST00000395209.3	+	23	3193	c.2666C>T	c.(2665-2667)tCg>tTg	p.S889L	DRP2_ENST00000541709.1_Missense_Mutation_p.S811L|DRP2_ENST00000402866.1_Missense_Mutation_p.S889L|DRP2_ENST00000538510.1_Missense_Mutation_p.S889L	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	889					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TCTGCAGGCTCGTCCCTAGCT	0.572000													64	63					0	0	0.003610	0	0
SLC37A3	84255	broad.mit.edu	37	7	140080110	140080110	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:140080110A>T	ENST00000326232.9	-	3	373	c.170T>A	c.(169-171)tTt>tAt	p.F57Y	SLC37A3_ENST00000340308.3_Missense_Mutation_p.F57Y|SLC37A3_ENST00000429996.2_Missense_Mutation_p.F57Y|SLC37A3_ENST00000447932.2_Missense_Mutation_p.F57Y|SLC37A3_ENST00000461089.1_Intron	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	57					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					TGACGTGTTAAAAGCACTTGG	0.458000													24	36					0	0	0.008361	0	0
TACC2	10579	broad.mit.edu	37	10	123844737	123844737	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:123844737G>A	ENST00000369005.1	+	4	3062	c.2722G>A	c.(2722-2724)Ggc>Agc	p.G908S	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.G908S|TACC2_ENST00000515273.1_Missense_Mutation_p.G908S|TACC2_ENST00000453444.2_Missense_Mutation_p.G908S|TACC2_ENST00000334433.3_Missense_Mutation_p.G908S|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	908						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCTCCCCAAAGGCACCCTGTC	0.488000													17	31					0	0	0.004007	0	0
ANO3	63982	broad.mit.edu	37	11	26664794	26664794	+	Missense_Mutation	SNP	T	T	G	rs11825056		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:26664794T>G	ENST00000256737.3	+	23	3193	c.2341T>G	c.(2341-2343)Tta>Gta	p.L781V	ANO3_ENST00000537978.1_Missense_Mutation_p.L765V|ANO3_ENST00000531568.1_Missense_Mutation_p.L635V|ANO3_ENST00000525139.1_Missense_Mutation_p.L765V	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	781			L -> V (in dbSNP:rs11825056).			chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTTGGCTTTGTTAAACAATAT	0.408000													44	45					0	0	0.003610	0	0
CSPG4	1464	broad.mit.edu	37	15	75977730	75977730	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:75977730G>A	ENST00000308508.5	-	4	4194	c.4102C>T	c.(4102-4104)Cct>Tct	p.P1368S		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1368	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCACCCTCAGGGACGCTGAAG	0.682000													5	8					0	0	0.000602	0	0
PTPRB	5787	broad.mit.edu	37	12	70932012	70932012	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:70932012C>T	ENST00000334414.6	-	28	5914		c.e28-1		RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000451516.2_Splice_Site|PTPRB_ENST00000550857.1_Splice_Site|PTPRB_ENST00000261266.5_Splice_Site|PTPRB_ENST00000538708.1_Splice_Site|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550358.1_Splice_Site	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B						angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTGGCATCATCTGGAAGGAGA	0.478000													43	25					0	0	0.003610	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141325	143141325	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:143141325C>T	ENST00000332690.1	+	1	780	c.780C>T	c.(778-780)ttC>ttT	p.F260F	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	260					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTCATATTTCCTGTCACTGG	0.493000													125	93					0	0	0.003610	0	0
SCN1A	6323	broad.mit.edu	37	2	166848847	166848847	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:166848847G>A	ENST00000423058.2	-	26	4955	c.4938C>T	c.(4936-4938)atC>atT	p.I1646I	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.I1646I|SCN1A_ENST00000409050.1_Silent_p.I1618I|SCN1A_ENST00000375405.3_Silent_p.I1635I|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1646						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCAGACGTAGGATTCGGCCAA	0.478000													46	66					0	0	0.003610	0	0
TAZ	6901	broad.mit.edu	37	X	153640454	153640454	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:153640454G>A	ENST00000299328.5	+	2	430	c.141G>A	c.(139-141)agG>agA	p.R47R	TAZ_ENST00000350743.4_Silent_p.R47R|TAZ_ENST00000351413.4_Silent_p.R47R|TAZ_ENST00000369776.4_Intron|TAZ_ENST00000369790.4_Silent_p.R47R	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	47					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCACAACAGGGAGGTGCTGT	0.667000											OREG0003602	type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	24					0	0	0.006214	0	0
SPEF2	79925	broad.mit.edu	37	5	35807313	35807313	+	Silent	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:35807313T>C	ENST00000440995.2	+	36	5322	c.5322T>C	c.(5320-5322)ttT>ttC	p.F1774F	SPEF2_ENST00000303129.4_Silent_p.F576F|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.F1779F			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1779					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCATCCTTTTATTCAAGACC	0.393000													86	98					0	0	0.003610	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560773	32560773	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:32560773C>T	ENST00000345122.3	+	2	1213	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H300Y|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H300Y|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H300Y	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	300	FF 1.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.H300Y(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATTAAAAAATCATCCTGATTA	0.313000													49	87					0	0	0.003610	0	0
KLF4	9314	broad.mit.edu	37	9	110249648	110249648	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:110249648G>T	ENST00000374672.4	-	3	1500	c.1027C>A	c.(1027-1029)Cac>Aac	p.H343N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	343	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGCCCCGGGTGGGGATGGAAG	0.652000													7	0					8.12818e-05	0.000142851	0.001984	1	0
KBTBD7	84078	broad.mit.edu	37	13	41766769	41766769	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:41766769C>T	ENST00000379483.3	-	1	1933	c.1625G>A	c.(1624-1626)gGa>gAa	p.G542E		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	542							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CCTCCATTCTCCCCTAGCTGG	0.418000													49	54					0	0	0.003610	0	0
SKA1	220134	broad.mit.edu	37	18	47918471	47918471	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:47918471C>T	ENST00000285116.3	+	7	833	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	SKA1_ENST00000417656.2_Missense_Mutation_p.R162C|SKA1_ENST00000488454.1_Missense_Mutation_p.R57C|SKA1_ENST00000398452.2_Missense_Mutation_p.R208C	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	208					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ATTTTTAGGTCGTTATTTTAT	0.328000													36	42					0	0	0.007835	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103086451	103086451	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:103086451C>T	ENST00000375735.2	+	55	8840	c.8694_splice	c.e55-1	p.A2899_splice	DYNC2H1_ENST00000398093.3_Splice_Site_p.A2899_splice|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2899	Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTGATGTAGGCTGGTGTATCT	0.328000													8	0					0	0	0.008291	0	0
IYD	389434	broad.mit.edu	37	6	150690257	150690257	+	Silent	SNP	G	G	A	rs146748197	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:150690257G>A	ENST00000344419.3	+	1	230	c.90G>A	c.(88-90)aaG>aaA	p.K30K	IYD_ENST00000500320.3_Silent_p.K30K|IYD_ENST00000392256.2_Silent_p.K30K|IYD_ENST00000392255.3_Silent_p.K30K|IYD_ENST00000229447.5_Silent_p.K30K	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	30					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGAGAAAAAGAAGGGGGAGC	0.493000													70	4					0	0	0.003610	0	0
NME8	51314	broad.mit.edu	37	7	37901644	37901644	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:37901644C>T	ENST00000199447.4	+	7	657	c.285C>T	c.(283-285)atC>atT	p.I95I	NME8_ENST00000440017.1_Silent_p.I95I|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	95	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GCAAAATTATCGAAAAGATTC	0.388000													40	29					0	0	0.003214	0	0
MAPK14	1432	broad.mit.edu	37	6	36043686	36043686	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:36043686G>A	ENST00000229795.3	+	7	1004	c.557G>A	c.(556-558)aGg>aAg	p.R186K	MAPK14_ENST00000310795.4_Missense_Mutation_p.R186K|MAPK14_ENST00000468133.1_Missense_Mutation_p.R109K|MAPK14_ENST00000229794.4_Missense_Mutation_p.R186K	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	186	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						GTGGCCACTAGGTGGTACAGG	0.463000													26	66					0	0	0.002096	0	0
SYT3	84258	broad.mit.edu	37	19	51135714	51135714	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:51135714G>A	ENST00000338916.4	-	2	1136	c.503C>T	c.(502-504)cCa>cTa	p.P168L	SYT3_ENST00000544769.1_Missense_Mutation_p.P168L|SYT3_ENST00000593901.1_Missense_Mutation_p.P168L|SYT3_ENST00000600079.1_Missense_Mutation_p.P168L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	168						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TGCAGCCTCTGGATACGAGTC	0.647000													13	18					0	0	0.003163	0	0
ACAN	176	broad.mit.edu	37	15	89388938	89388938	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:89388938C>T	ENST00000439576.2	+	7	1628	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	ACAN_ENST00000559004.1_Silent_p.F418F|ACAN_ENST00000558207.1_Silent_p.F418F|ACAN_ENST00000352105.7_Silent_p.F418F|ACAN_ENST00000561243.1_Silent_p.F418F	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	418					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGGAGCCCTTCACGTTTGCCC	0.617000													8	11					0	0	0.004482	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369238	86369238	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:86369238T>C	ENST00000400286.2	-	2	2004	c.1406A>G	c.(1405-1407)aAc>aGc	p.N469S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	469				N -> H (in Ref. 1).		integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTGGAGGAGGTTGTTATTTAA	0.328000													42	42					0	0	0.002522	0	0
COL11A1	1301	broad.mit.edu	37	1	103385916	103385916	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:103385916G>A	ENST00000358392.2	-	49	4066	c.3749C>T	c.(3748-3750)cCa>cTa	p.P1250L	COL11A1_ENST00000512756.1_Missense_Mutation_p.P1122L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1199L|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1238L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1238	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGTCCTTGTGGTCCCTGCAG	0.358000													140	12					0	0	0.003610	0	0
AHNAK	79026	broad.mit.edu	37	11	62301352	62301352	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:62301352T>A	ENST00000378024.4	-	5	811	c.537A>T	c.(535-537)gaA>gaT	p.E179D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	179					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGATCTTGAATTCAGGGCTAC	0.542000													48	45					0	0	0.003610	0	0
NME8	51314	broad.mit.edu	37	7	37901739	37901739	+	Missense_Mutation	SNP	G	G	A	rs151218163		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:37901739G>A	ENST00000199447.4	+	7	752	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	NME8_ENST00000440017.1_Missense_Mutation_p.R127Q|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	127					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.R127L(1)									GAAATGGCTCGACCTCAGGTA	0.363000													21	17					0	0	0.002780	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33802148	33802148	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:33802148G>C	ENST00000260908.7	-	4	1678	c.1561C>G	c.(1561-1563)Cct>Gct	p.P521A	SLFN12L_ENST00000361112.4_Missense_Mutation_p.P550A|SLFN12L_ENST00000449046.1_Missense_Mutation_p.P552A	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	553						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TTGCCTTCAGGGCTCAAGTAG	0.383000													25	34					0	0	0.009535	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899718	128899718	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:128899718G>A	ENST00000435159.2	+	2	527	c.527G>A	c.(526-528)cGa>cAa	p.R176Q		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	176						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TTTGCTTTCCGAGAAACCAGA	0.637000													4	6					0	0	0.000602	0	0
MCF2	4168	broad.mit.edu	37	X	138664631	138664631	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:138664631C>T	ENST00000536274.1	-	22	2759	c.2437G>A	c.(2437-2439)Gat>Aat	p.D813N	MCF2_ENST00000520602.1_Silent_p.*986*|MCF2_ENST00000519895.1_Silent_p.*1002*|MCF2_ENST00000338585.6_Silent_p.*942*|MCF2_ENST00000370576.4_Silent_p.*926*|MCF2_ENST00000414978.1_Silent_p.*986*|MCF2_ENST00000370573.4_Missense_Mutation_p.D852N|MCF2_ENST00000370578.4_Silent_p.*1071*	NM_001171877.1|NM_001171878.1	NP_001165348.1|NP_001165349.1	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GTAGCTTCATCAATATAGGAG	0.448000													28	61					0	0	0.003271	0	0
ZFX	7543	broad.mit.edu	37	X	24229431	24229431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:24229431C>T	ENST00000379177.1	+	11	2783	c.2356C>T	c.(2356-2358)Cga>Tga	p.R786*	ZFX_ENST00000338565.3_Nonsense_Mutation_p.R736*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.R786*|ZFX_ENST00000379188.3_Nonsense_Mutation_p.R786*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.R825*|ZFX_ENST00000539115.1_Nonsense_Mutation_p.R557*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	786					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GAAAGGCTTCCGAAGACCTTC	0.438000													22	39					0	0	0.001882	0	0
KRT4	3851	broad.mit.edu	37	12	53207559	53207559	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:53207559C>T	ENST00000293774.4	-	1	776	c.506G>A	c.(505-507)gGt>gAt	p.G169D	KRT4_ENST00000458244.2_Missense_Mutation_p.G75D|KRT4_ENST00000551956.1_Missense_Mutation_p.G95D			B4DRS2	B4DRS2_HUMAN	keratin 4	95						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCCACCCTTACCACTGAAGGA	0.617000													13	24					0	0	0.004007	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028069	45028069	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:45028069C>T	ENST00000454753.1	-	0	700							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AAGGGCATCTCGAGCTTCACA	0.532000													154	192					0	0	0.003610	0	0
KCNK5	8645	broad.mit.edu	37	6	39162039	39162039	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:39162039G>A	ENST00000359534.3	-	4	878	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	180					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCATGAATACGAAGGGTGGGA	0.572000													18	57					0	0	0.001882	0	0
FAAH2	158584	broad.mit.edu	37	X	57405126	57405126	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:57405126C>T	ENST00000374900.4	+	6	905	c.785C>T	c.(784-786)gCc>gTc	p.A262V		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	262						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						GCTGTGGGAGCCCAGGAGTTG	0.512000										HNSCC(52;0.14)			38	41					0	0	0.006230	0	0
SLC38A11	151258	broad.mit.edu	37	2	165802238	165802238	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:165802238C>T	ENST00000303735.4	-	3	392		c.e3-1		SLC38A11_ENST00000409058.1_Splice_Site|SLC38A11_ENST00000409149.3_Splice_Site|SLC38A11_ENST00000409662.1_Splice_Site	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11						amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						AGGGAAAAGTCTGTGGCAAGA	0.353000													50	46					0	0	0.003610	0	0
DOCK3	1795	broad.mit.edu	37	3	51251646	51251646	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:51251646G>A	ENST00000266037.9	+	14	1243	c.1220G>A	c.(1219-1221)aGa>aAa	p.R407K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	407						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)		GCAATTACAAGAAAATTGGGA	0.453000													13	11					0	0	0.001368	0	0
CELSR3	1951	broad.mit.edu	37	3	48691118	48691118	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:48691118C>T	ENST00000544264.1	-	9	5662	c.5382G>A	c.(5380-5382)cgG>cgA	p.R1794R	CELSR3_ENST00000164024.4_Silent_p.R1794R			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1794	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGCCCGTGTCCGAAATGCCA	0.607000													31	26					0	0	0.009535	0	0
DRGX	644168	broad.mit.edu	37	10	50594888	50594888	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:50594888C>T	ENST00000374139.2	-	4	261	c.251G>A	c.(250-252)aGa>aAa	p.R84K	DRGX_ENST00000434016.1_Missense_Mutation_p.R89K			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	89					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						TTTGGCCCTTCTGTTCTGGAA	0.547000													93	97					0	0	0.003610	0	0
ADAM19	8728	broad.mit.edu	37	5	156932732	156932732	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:156932732C>T	ENST00000257527.4	-	11	1153	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	ADAM19_ENST00000394020.1_Missense_Mutation_p.D361N|ADAM19_ENST00000517905.1_Missense_Mutation_p.D359N|ADAM19_ENST00000430702.2_Missense_Mutation_p.D92N	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	359	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCAGCAATCTGCAGAATCA	0.602000													10	15					0	0	0.008291	0	0
TMEM134	80194	broad.mit.edu	37	11	67235031	67235031	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:67235031G>A	ENST00000393877.3	-	3	327	c.270C>T	c.(268-270)tcC>tcT	p.S90S	TMEM134_ENST00000308022.2_Silent_p.S90S|TMEM134_ENST00000452789.2_Silent_p.S81S	NM_001078650.1	NP_001072118.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	90						integral to membrane				endometrium(1)|lung(1)	2						AGGACCACTGGGAGCTGCGGA	0.657000													29	30					0	0	0.009535	0	0
MROH9	80133	broad.mit.edu	37	1	170941020	170941020	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:170941020G>A	ENST00000367759.4	+	8	766	c.612G>A	c.(610-612)caG>caA	p.Q204Q	MROH9_ENST00000367758.3_Silent_p.Q204Q	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		CACGGTGTCAGAACGGTAAGA	0.433000													256	14					0	0	0.003610	0	0
MEI1	150365	broad.mit.edu	37	22	42166941	42166941	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:42166941C>T	ENST00000401548.3	+	20	2560	c.2520C>T	c.(2518-2520)atC>atT	p.I840I	MEI1_ENST00000540880.1_Silent_p.I158I|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Silent_p.I208I	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	840							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCAGAAGCATCCCCAGCATCC	0.532000													60	66					0	0	0.003610	0	0
TTYH2	94015	broad.mit.edu	37	17	72249960	72249960	+	Silent	SNP	C	C	T	rs144976577		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:72249960C>T	ENST00000441391.2	+	7	1761	c.549C>T	c.(547-549)tcC>tcT	p.S183S	TTYH2_ENST00000529107.1_Silent_p.S483S|TTYH2_ENST00000269346.4_Silent_p.S504S	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	504						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GGAGAGCCTCCCCTCCGCCTA	0.562000													24	29					0	0	0.006320	0	0
ZNF682	91120	broad.mit.edu	37	19	20117432	20117432	+	Silent	SNP	C	C	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:20117432C>A	ENST00000397165.2	-	4	1039	c.879G>T	c.(877-879)gcG>gcT	p.A293A	ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Silent_p.A217A|ZNF682_ENST00000397162.1_Silent_p.A261A|ZNF682_ENST00000597972.1_Silent_p.A299A|ZNF682_ENST00000358523.5_Silent_p.A261A	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GCCGGTTAAACGCTCTGCCAC	0.408000													32	48					1.66425e-11	2.93286e-11	0.004878	1	0
TMEM95	339168	broad.mit.edu	37	17	7259169	7259169	+	Missense_Mutation	SNP	C	C	T	rs139214770		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:7259169C>T	ENST00000389982.4	+	3	321	c.239C>T	c.(238-240)gCt>gTt	p.A80V	TMEM95_ENST00000330767.4_Missense_Mutation_p.A80V|TMEM95_ENST00000576060.1_Missense_Mutation_p.A80V			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	80						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				ATCAAAGAGGCTGTCTCCTCA	0.607000											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	31					0	0	0.001882	0	0
RPTOR	57521	broad.mit.edu	37	17	78811795	78811795	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:78811795C>T	ENST00000306801.3	+	10	1572	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	RPTOR_ENST00000544334.2_Missense_Mutation_p.R404W|RPTOR_ENST00000537330.1_Missense_Mutation_p.R219W|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	404					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CACTGCGTTTCGGGTGAGTCC	0.627000													5	7					0	0	0.001984	0	0
OR4N5	390437	broad.mit.edu	37	14	20611898	20611898	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:20611898G>A	ENST00000333629.1	+	1	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		AGAAATTATGGAAACACAGAA	0.368000													39	44					0	0	0.007835	0	0
PRSS58	136541	broad.mit.edu	37	7	141954960	141954960	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:141954960C>T	ENST00000552471.1	-	3	670	c.351G>A	c.(349-351)gtG>gtA	p.V117V	PRSS58_ENST00000547058.2_Silent_p.V117V			Q8IYP2	PRS58_HUMAN	protease, serine, 58	117	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TGGCTAATTTCACATAGTCAT	0.403000													40	84					0	0	0.006999	0	0
ELK4	2005	broad.mit.edu	37	1	205588962	205588962	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:205588962G>A	ENST00000289703.4	-	3	1551	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	ELK4_ENST00000357992.4_Intron	NM_021795.2	NP_068567.1			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			ACTTTCACATGACAGTCACAC	0.294000			T	SLC45A3	prostate								77	6					0	0	0.003610	0	0
ASIC2	40	broad.mit.edu	37	17	32483453	32483453	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:32483453G>A	ENST00000359872.6	-	1	860	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	33					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCCCATACACGAAGATGTGGC	0.612000													15	13					0	0	0.004990	0	0
TPTE	7179	broad.mit.edu	37	21	10908892	10908892	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:10908892G>A	ENST00000298232.7	-	22	1766	c.1399C>T	c.(1399-1401)Ctt>Ttt	p.L467F	TPTE_ENST00000361285.4_Missense_Mutation_p.L485F|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.L447F	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	485	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L467I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TATGTAGGAAGATTCTAAAAA	0.269000													6	61					0	0	0.003080	0	0
PPIL2	23759	broad.mit.edu	37	22	22036806	22036806	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:22036806C>T	ENST00000406385.1	+	8	528	c.468C>T	c.(466-468)atC>atT	p.I156I	PPIL2_ENST00000398831.3_Silent_p.I156I|PPIL2_ENST00000456792.2_Silent_p.I135I|PPIL2_ENST00000492445.2_Silent_p.I156I|PPIL2_ENST00000412327.1_Silent_p.I156I|PPIL2_ENST00000335025.7_Silent_p.I156I			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	156					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AGGACATCATCACCCTCCAGG	0.637000													15	13					0	0	0.003163	0	0
FREM1	158326	broad.mit.edu	37	9	14797617	14797617	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:14797617C>T	ENST00000380881.4	-	22	4536	c.3721G>A	c.(3721-3723)Gat>Aat	p.D1241N	FREM1_ENST00000422223.2_Missense_Mutation_p.D1240N|FREM1_ENST00000380880.3_Missense_Mutation_p.D1240N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1240					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTGAGTCATCATGCATGTAC	0.353000													60	93					0	0	0.003610	0	0
UNC45B	146862	broad.mit.edu	37	17	33482368	33482368	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:33482368C>T	ENST00000268876.5	+	7	790	c.693C>T	c.(691-693)gcC>gcT	p.A231A	UNC45B_ENST00000591048.1_Silent_p.A231A|UNC45B_ENST00000394570.2_Silent_p.A231A|UNC45B_ENST00000433649.1_Silent_p.A231A|UNC45B_ENST00000378449.1_Silent_p.A231A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	231					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCCTCATGGCCGTGGAGAATG	0.572000													34	27					0	0	0.003271	0	0
KIAA0753	9851	broad.mit.edu	37	17	6531867	6531867	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:6531867T>A	ENST00000361413.3	-	3	646	c.288A>T	c.(286-288)agA>agT	p.R96S	KIAA0753_ENST00000542606.1_5'UTR|KIAA0753_ENST00000572370.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	96						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CATAGCTAAGTCTCTCTTGGG	0.408000													25	46					0	0	0.004656	0	0
OR13H1	347468	broad.mit.edu	37	X	130678528	130678528	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:130678528C>T	ENST00000338616.3	+	1	579	c.481C>T	c.(481-483)Cta>Tta	p.L161L		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CATGCTCATCCTATCCCTGAG	0.493000													220	101					0	0	0.003610	0	0
GPCPD1	56261	broad.mit.edu	37	20	5545700	5545700	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:5545700G>A	ENST00000379019.4	-	15	1504	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	431	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TTCTGAAAAGGAATTTTCCTC	0.323000													43	88					0	0	0.003610	0	0
FAM71B	153745	broad.mit.edu	37	5	156592907	156592907	+	Silent	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:156592907T>C	ENST00000302938.4	-	1	368	c.273A>G	c.(271-273)caA>caG	p.Q91Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	91						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTAGTTGGTTGGGCCAGAA	0.567000													268	292					0	0	0.003610	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449609	105449609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:105449609C>T	ENST00000337685.2	+	5	969	c.184C>T	c.(184-186)Caa>Taa	p.Q62*	MUM1L1_ENST00000357175.2_Nonsense_Mutation_p.Q62*|MUM1L1_ENST00000372552.1_Nonsense_Mutation_p.Q62*	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	62										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAATAAATCTCAAATTGAAGC	0.398000													20	23					0	0	0.002780	0	0
ZNF512B	57473	broad.mit.edu	37	20	62592680	62592680	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:62592680G>A	ENST00000450537.1	-	16	2469	c.2409C>T	c.(2407-2409)atC>atT	p.I803I	ZNF512B_ENST00000369888.1_Silent_p.I803I|ZNF512B_ENST00000217130.3_Silent_p.I803I			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	803					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGGTCTTCAGGATGTGGTATT	0.642000													13	21					0	0	0.002450	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178820428	178820428	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:178820428C>T	ENST00000234816.2	-	6	1759	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R	RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.G438R	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	438	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CACCAGCCTCCTTTATGAAAG	0.403000													17	86					0	0	0.007413	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327526	28327526	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:28327526C>T	ENST00000377255.3	+	3	460	c.163C>T	c.(163-165)Ccg>Tcg	p.P55S	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.P55S|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	55	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CTTCCGCTACCCGGAGGCTGC	0.637000													37	84					0	0	0.004289	0	0
KCTD19	146212	broad.mit.edu	37	16	67327786	67327786	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:67327786G>A	ENST00000304372.5	-	12	1934	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	627						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GTGGCGGGAGGGTCTTTGGTT	0.527000													65	54					0	0	0.003610	0	0
SYCP2L	221711	broad.mit.edu	37	6	10898272	10898272	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:10898272G>A	ENST00000283141.6	+	5	661	c.365G>A	c.(364-366)gGa>gAa	p.G122E	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	122						nucleus		p.G122E(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AGAACAACAGGAATTCTGACC	0.418000													20	60					0	0	0.002299	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940367	82940367	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:82940367G>A	ENST00000274341.4	-	4	1440	c.590C>T	c.(589-591)gCc>gTc	p.A197V		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	197	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.A197D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GCCCCGCCAGGCGTCGTACAG	0.612000													17	24					0	0	0.006122	0	0
ACRC	93953	broad.mit.edu	37	X	70823746	70823746	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:70823746G>A	ENST00000373695.1	+	7	1156	c.619G>A	c.(619-621)Gac>Aac	p.D207N	ACRC_ENST00000373696.3_Missense_Mutation_p.D207N			Q96QF7	ACRC_HUMAN	acidic repeat containing	207	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TTCATCCGACGACAACAGTGA	0.498000													103	134					0	0	0.003610	0	0
TENM3	55714	broad.mit.edu	37	4	183635383	183635383	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:183635383G>A	ENST00000511685.1	+	13	2488	c.2365G>A	c.(2365-2367)Gga>Aga	p.G789R	TENM3_ENST00000406950.2_Missense_Mutation_p.G789R|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		GGACAATGAAGGAGGTAAGAA	0.463000													10	11					0	0	0.006214	0	0
HOXC13	3229	broad.mit.edu	37	12	54333195	54333195	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:54333195G>A	ENST00000243056.3	+	1	661	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	169						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GTCCTCTAGGGCCAAGGAGTT	0.672000			T	NUP98	AML								6	7					0	0	0.001984	0	0
CCDC22	28952	broad.mit.edu	37	X	49105171	49105171	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:49105171G>A	ENST00000376227.3	+	12	1577	c.1407G>A	c.(1405-1407)agG>agA	p.R469R		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	469										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						AGGCCCGCAGGAAGGAGGAGG	0.607000													12	10					0	0	0.001855	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2868886	2868886	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:2868886C>T	ENST00000254695.8	+	8	635	c.545C>T	c.(544-546)tCc>tTc	p.S182F	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.S163F|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.S167F|CTD-3060P21.1_ENST00000574885.1_RNA|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.S182F	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	182					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TTGATCCTGTCCGTCAAGTGC	0.527000													11	8					0	0	0.002450	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994385	45994385	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:45994385C>T	ENST00000400374.3	+	1	780	c.750C>T	c.(748-750)tgC>tgT	p.C250C	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	250	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CCTCTTCATGCTGCCAGCAGT	0.627000													64	66					0	0	0.003610	0	0
NF1	4763	broad.mit.edu	37	17	29553501	29553501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:29553501C>T	ENST00000358273.4	+	18	2433	c.2050C>T	c.(2050-2052)Cag>Tag	p.Q684*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q684*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	684					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.Q684*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCGACAAGCCCAGACCAAACT	0.507000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			22	31					0	0	0.002780	0	0
ZNF836	162962	broad.mit.edu	37	19	52663788	52663788	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:52663788G>A	ENST00000322146.8	-	4	593	c.72C>T	c.(70-72)tcC>tcT	p.S24S	ZNF836_ENST00000597252.1_Silent_p.S24S|CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597065.1_Silent_p.S24S	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGGGTCCAGGGATTTCCACT	0.443000													64	68					0	0	0.003610	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73168939	73168939	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:73168939C>T	ENST00000545377.1	+	22	2858	c.2682C>T	c.(2680-2682)ttC>ttT	p.F894F	ARHGEF28_ENST00000296794.6_Silent_p.F894F|ARHGEF28_ENST00000437974.1_Silent_p.F894F|ARHGEF28_ENST00000287898.5_Silent_p.F894F|ARHGEF28_ENST00000513042.2_Silent_p.F894F|ARHGEF28_ENST00000296799.4_Silent_p.F581F|ARHGEF28_ENST00000426542.2_Silent_p.F894F	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		ATAAAATTTTCCCCTGTTTAG	0.468000													8	10					0	0	0.003080	0	0
SMARCB1	6598	broad.mit.edu	37	22	24167437	24167437	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:24167437C>T	ENST00000344921.6	+	7	1055	c.848C>T	c.(847-849)tCc>tTc	p.S283F	SMARCB1_ENST00000407082.3_Missense_Mutation_p.S228F|SMARCB1_ENST00000407422.3_Missense_Mutation_p.S265F|SMARCB1_ENST00000263121.7_Missense_Mutation_p.S274F|SMARCB1_ENST00000477836.1_3'UTR			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	274	2 X approximate tandem repeats.				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(6)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GGAAACATTTCCCTGGTGGAC	0.572000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							24	41					0	0	0.008361	0	0
DMD	1756	broad.mit.edu	37	X	31165473	31165473	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:31165473C>T	ENST00000357033.4	-	75	10922	c.10716G>A	c.(10714-10716)ctG>ctA	p.L3572L	DMD_ENST00000359836.1_Silent_p.L1099L|DMD_ENST00000378680.2_Silent_p.L394L|DMD_ENST00000361471.4_Silent_p.L491L|DMD_ENST00000378707.3_Silent_p.L1112L|DMD_ENST00000378677.2_Silent_p.L3568L|DMD_ENST00000378723.3_Silent_p.L504L|DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000343523.2_Silent_p.L1002L|DMD_ENST00000541735.1_Silent_p.L1002L|DMD_ENST00000474231.1_Silent_p.L1112L|DMD_ENST00000378702.4_Silent_p.L504L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3572					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCTGGCTTCCAGGCGGCCTT	0.562000													34	31					0	0	0.002836	0	0
MDH1B	130752	broad.mit.edu	37	2	207611011	207611011	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:207611011C>T	ENST00000374412.3	-	8	1631	c.1356_splice	c.e8+1	p.Q452_splice	MDH1B_ENST00000454776.2_Splice_Site_p.Q452_splice|MDH1B_ENST00000392214.2_Splice_Site_p.Q239_splice|MDH1B_ENST00000449792.1_Splice_Site_p.Q354_splice	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	452					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CTGACATTACCTGAATTAGAT	0.368000													22	36					0	0	0.003330	0	0
CLEC4D	338339	broad.mit.edu	37	12	8671720	8671720	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:8671720G>A	ENST00000299665.2	+	4	541	c.348G>A	c.(346-348)ggG>ggA	p.G116G		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	116	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CAGGGATGGGGGCCCATCTGA	0.488000													17	18					0	0	0.006122	0	0
OR2C3	81472	broad.mit.edu	37	1	247695172	247695172	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:247695172G>A	ENST00000366487.3	-	2	1003	c.642C>T	c.(640-642)ctC>ctT	p.L214L	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGACCAGGATGAGCCCCAGAG	0.547000													74	2					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179554265	179554265	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179554265C>T	ENST00000589042.1	-	123	32128	c.31904G>A	c.(31903-31905)aGa>aAa	p.R10635K	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9391K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R10318K|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10318	Glu-rich.|Pro-rich.						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)			AGATTCCTCTCTTTGAGTTAC	0.358000													8	14					0	0	0.008291	0	0
SLC38A10	124565	broad.mit.edu	37	17	79234139	79234139	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:79234139G>A	ENST00000374759.3	-	11	1570	c.1187C>T	c.(1186-1188)tCt>tTt	p.S396F	SLC38A10_ENST00000288439.5_Missense_Mutation_p.S396F	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	396					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTCGCTCACAGACAGTGTGGT	0.672000													9	7					0	0	0.008291	0	0
IL17RD	54756	broad.mit.edu	37	3	57138405	57138405	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:57138405G>A	ENST00000296318.7	-	8	866	c.778C>T	c.(778-780)Ctt>Ttt	p.L260F	IL17RD_ENST00000463523.1_Missense_Mutation_p.L116F|IL17RD_ENST00000427856.2_Missense_Mutation_p.L236F|IL17RD_ENST00000320057.5_Missense_Mutation_p.L116F	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	260						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		ACATTTTGAAGGAGGCAGCTG	0.413000													7	10					0	0	0.004482	0	0
GPR64	10149	broad.mit.edu	37	X	19027767	19027767	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:19027767C>T	ENST00000379878.3	-	17	1592	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	GPR64_ENST00000379869.3_Missense_Mutation_p.A467T|GPR64_ENST00000357991.3_Missense_Mutation_p.A464T|GPR64_ENST00000379876.1_Missense_Mutation_p.A443T|GPR64_ENST00000354791.3_Missense_Mutation_p.A451T|GPR64_ENST00000340581.3_Missense_Mutation_p.A437T|GPR64_ENST00000379873.2_Missense_Mutation_p.A467T|GPR64_ENST00000360279.4_Missense_Mutation_p.A445T|GPR64_ENST00000356606.4_Missense_Mutation_p.A453T|GPR64_ENST00000357544.3_Missense_Mutation_p.A437T	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	467					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GGGTCTTGGGCCACAAAGGTA	0.423000													32	44					0	0	0.004289	0	0
LCE1B	353132	broad.mit.edu	37	1	152784973	152784973	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:152784973C>G	ENST00000360090.3	+	1	527	c.51C>G	c.(49-51)atC>atG	p.I17M		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	17	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ccaagtgcatccccaagtgcc	0.602000													144	2					0	0	0.003610	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924119	45924119	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:45924119C>T	ENST00000395629.2	+	5	1101	c.771C>T	c.(769-771)atC>atT	p.I257I	MAPK8IP1_ENST00000241014.2_Silent_p.I267I			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	267	JNK-binding domain (JBD).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GAGACCGAATCCACTACCAGG	0.687000													9	12					0	0	0.006214	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558497	140558497	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140558497G>A	ENST00000239444.2	+	1	1127	c.882G>A	c.(880-882)aaG>aaA	p.K294K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		294	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACTTTTAAGGTCGATTTCT	0.413000													58	310					0	0	0.003610	0	0
DNAH9	1770	broad.mit.edu	37	17	11784661	11784661	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:11784661G>A	ENST00000262442.3	+	55	10805	c.10737G>A	c.(10735-10737)agG>agA	p.R3579R	DNAH9_ENST00000454412.2_Silent_p.R3579R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3579	AAA 5 (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)		CCGTGACCAGGGATGGCCTGG	0.582000													33	24					0	0	0.004289	0	0
DMD	1756	broad.mit.edu	37	X	31190524	31190524	+	Silent	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:31190524T>C	ENST00000357033.4	-	73	10541	c.10335A>G	c.(10333-10335)gcA>gcG	p.A3445A	DMD_ENST00000359836.1_Silent_p.A972A|DMD_ENST00000378680.2_Intron|DMD_ENST00000361471.4_Silent_p.A364A|DMD_ENST00000378707.3_Silent_p.A985A|DMD_ENST00000378677.2_Silent_p.A3441A|DMD_ENST00000378723.3_Silent_p.A377A|DMD_ENST00000343523.2_Intron|DMD_ENST00000541735.1_Intron|DMD_ENST00000474231.1_Silent_p.A985A|DMD_ENST00000378702.4_Silent_p.A377A	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3445					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTCCATTTCTGCTAGCCTGA	0.333000													15	18					0	0	0.002450	0	0
CCP110	9738	broad.mit.edu	37	16	19548169	19548169	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:19548169C>T	ENST00000396212.2	+	5	1614	c.1178C>T	c.(1177-1179)cCa>cTa	p.P393L	CCP110_ENST00000381396.5_Missense_Mutation_p.P393L|CCP110_ENST00000396208.2_Missense_Mutation_p.P393L	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	393	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						ATAAATAACCCAATAAATGCC	0.383000													13	16					0	0	0.002450	0	0
SATB2	23314	broad.mit.edu	37	2	200213545	200213545	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:200213545G>A	ENST00000443023.1	-	6	2340	c.875C>T	c.(874-876)cCa>cTa	p.P292L	SATB2_ENST00000260926.5_Missense_Mutation_p.P351L|SATB2_ENST00000417098.1_Missense_Mutation_p.P351L|SATB2_ENST00000428695.1_Missense_Mutation_p.P233L|SATB2_ENST00000457245.1_Missense_Mutation_p.P351L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	351						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTTGGCTCTGGCTTAACTGC	0.537000													42	66					0	0	0.002852	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713654	32713654	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32713654C>T	ENST00000374940.3	+	3	520	c.418C>T	c.(418-420)Cct>Tct	p.P140S		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	140	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAACATCTTTCCTCCTGTGGT	0.502000													11	170					0	0	0.003163	0	0
MITF	4286	broad.mit.edu	37	3	69990452	69990452	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:69990452G>C	ENST00000352241.4	+	5	895	c.732G>C	c.(730-732)ttG>ttC	p.L244F	MITF_ENST00000394351.3_Missense_Mutation_p.L137F|MITF_ENST00000314557.6_Missense_Mutation_p.L137F|MITF_ENST00000472437.1_Missense_Mutation_p.L192F|MITF_ENST00000531774.1_Missense_Mutation_p.L81F|MITF_ENST00000314589.5_Missense_Mutation_p.L228F|MITF_ENST00000328528.6_Missense_Mutation_p.L243F|MITF_ENST00000394355.2_Missense_Mutation_p.L219F|MITF_ENST00000448226.2_Missense_Mutation_p.L244F	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	244	Transactivation.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TCTTGGGCTTGATGGATCCTG	0.348000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						23	33					0	0	0.003954	0	0
C20orf26	26074	broad.mit.edu	37	20	20226842	20226842	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:20226842G>A	ENST00000245957.5	+	19	2218	c.2142G>A	c.(2140-2142)agG>agA	p.R714R	C20orf26_ENST00000389656.3_Silent_p.R70R|C20orf26_ENST00000377293.1_Silent_p.R70R|C20orf26_ENST00000377309.2_Silent_p.R70R	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	714										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)		CTGAACAAAGGAAATTTTTAG	0.343000													35	42					0	0	0.006230	0	0
OSBPL6	114880	broad.mit.edu	37	2	179247909	179247909	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179247909G>A	ENST00000190611.4	+	17	2156	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	OSBPL6_ENST00000409631.1_Missense_Mutation_p.E558K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E619K|OSBPL6_ENST00000315022.2_Missense_Mutation_p.E598K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E558K|OSBPL6_ENST00000409045.3_Missense_Mutation_p.E563K	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	594					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GGAGCTAAACGAGCCGCTCAA	0.478000													22	19					0	0	0.002780	0	0
AGPAT4	56895	broad.mit.edu	37	6	161575237	161575237	+	Missense_Mutation	SNP	G	G	A	rs143406726		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:161575237G>A	ENST00000320285.4	-	4	666	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	AGPAT4_ENST00000366906.5_Missense_Mutation_p.R90C|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366911.5_Missense_Mutation_p.S95L	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	152					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		ACCGTCTTGCGATCCTGCTCC	0.562000													32	6					0	0	0.004878	0	0
DHRS9	10170	broad.mit.edu	37	2	169938087	169938087	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:169938087G>A	ENST00000432060.2	+	2	246	c.176G>A	c.(175-177)gGa>gAa	p.G59E	DHRS9_ENST00000436483.2_5'UTR|DHRS9_ENST00000327239.4_5'UTR|DHRS9_ENST00000428522.1_5'UTR|DHRS9_ENST00000412271.1_5'UTR|DHRS9_ENST00000602501.1_5'UTR|DHRS9_ENST00000421653.1_Intron|DHRS9_ENST00000357546.2_5'UTR			Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	0					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CACACAGGGGGAAAAATGCTC	0.383000													24	33					0	0	0.002780	0	0
ZNF34	80778	broad.mit.edu	37	8	145998914	145998914	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:145998914G>A	ENST00000429371.2	-	6	1510	c.1357C>T	c.(1357-1359)Ccc>Tcc	p.P453S	ZNF34_ENST00000343459.4_Missense_Mutation_p.P474S	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CACTTGTAGGGCTTCTCTCCT	0.537000													22	15					0	0	0.003954	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101627249	101627249	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:101627249C>T	ENST00000310954.6	-	2	703	c.417G>A	c.(415-417)atG>atA	p.M139I		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	139					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GGGAACTCTTCATTTCATAAC	0.338000													13	22					0	0	0.002450	0	0
OR2C3	81472	broad.mit.edu	37	1	247695083	247695083	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:247695083G>A	ENST00000366487.3	-	2	1092	c.731C>T	c.(730-732)tCc>tTc	p.S244F	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGCCACGTGGGAAGAACAGGT	0.557000													56	74					0	0	0.003610	0	0
ZNF17	7565	broad.mit.edu	37	19	57931662	57931662	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:57931662C>T	ENST00000307658.7	+	4	1071	c.808C>T	c.(808-810)Cac>Tac	p.H270Y	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Missense_Mutation_p.H268Y			P17021	ZNF17_HUMAN	zinc finger protein 17	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CCAGAAAATTCACACTGGAGA	0.433000													22	34					0	0	0.002299	0	0
COG1	9382	broad.mit.edu	37	17	71193158	71193158	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:71193158T>G	ENST00000299886.4	+	3	760	c.680T>G	c.(679-681)cTc>cGc	p.L227R		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	227					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CGCCAAGCCCTCACAGACTTC	0.507000													20	31					0	0	0.008871	0	0
NLRP9	338321	broad.mit.edu	37	19	56244308	56244308	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:56244308C>T	ENST00000332836.2	-	2	916	c.889G>A	c.(889-891)Gga>Aga	p.G297R		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	297	NACHT.					cytoplasm	ATP binding	p.G297*(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCACTGAATCCTAAGAGCTTT	0.393000													27	36					0	0	0.005443	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22784257	22784257	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:22784257G>A	ENST00000600260.1	+	0	691				RN7SL860P_ENST00000473738.2_RNA	NR_033899.1																						TCACTCAGAGGAAGAGGAGGG	0.572000													4	8					0	0	0.009096	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13399989	13399989	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:13399989G>A	ENST00000284110.1	-	2	1543	c.746C>T	c.(745-747)gCc>gTc	p.A249V	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.A47V	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	249						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCCGAGATGGCCCTGGTCAC	0.642000													8	50					0	0	0.004990	0	0
CEACAM7	1087	broad.mit.edu	37	19	42181356	42181356	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:42181356C>T	ENST00000006724.3	-	4	983	c.782G>A	c.(781-783)gGg>gAg	p.G261E	CEACAM7_ENST00000602225.1_Missense_Mutation_p.G168E|CEACAM7_ENST00000401731.1_Missense_Mutation_p.G261E|CEACAM7_ENST00000338196.4_Missense_Mutation_p.G168E	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	261						anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CAGAGCCATCCCAGCCAGTAC	0.483000													20	35					0	0	0.010504	0	0
DNAH8	1769	broad.mit.edu	37	6	38791386	38791386	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:38791386C>T	ENST00000359357.3	+	26	3372	c.3118C>T	c.(3118-3120)Cta>Tta	p.L1040L	DNAH8_ENST00000441566.1_Silent_p.L1040L|DNAH8_ENST00000449981.2_Silent_p.L1257L					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						ATCAGAAATTCTACACTATGC	0.299000													27	69					0	0	0.007291	0	0
C2orf53	339779	broad.mit.edu	37	2	27360137	27360137	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:27360137G>A	ENST00000335524.3	-	3	1586	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	354										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCTGGGAGGGTGTGCCTGG	0.632000													42	44					0	0	0.002852	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101592859	101592859	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:101592859C>T	ENST00000310954.6	-	8	1715	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	477					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GGCTCATTTTCACATTTGGCA	0.323000													25	26					0	0	0.004656	0	0
PXDNL	137902	broad.mit.edu	37	8	52359630	52359630	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:52359630C>T	ENST00000356297.4	-	12	1559	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	PXDNL_ENST00000543296.1_Missense_Mutation_p.E487K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	487	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCTTGACATTCATATTGGCCT	0.468000													73	77					0	0	0.003610	0	0
PTPRS	5802	broad.mit.edu	37	19	5244244	5244244	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:5244244G>A	ENST00000372412.4	-	11	1474	c.1241C>T	c.(1240-1242)cCc>cTc	p.P414L	PTPRS_ENST00000592099.1_Missense_Mutation_p.P400L|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.P400L|PTPRS_ENST00000588012.1_Missense_Mutation_p.P400L|PTPRS_ENST00000353284.2_Missense_Mutation_p.P400L|PTPRS_ENST00000587303.1_Missense_Mutation_p.P413L|PTPRS_ENST00000357368.4_Missense_Mutation_p.P413L|PTPRS_ENST00000262963.6_Missense_Mutation_p.P409L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	413	Fibronectin type-III 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGACTCGCTGGGGGGCCCCTG	0.682000													18	22					0	0	0.004990	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476702	140476702	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140476702C>T	ENST00000194155.4	+	1	2476	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		776					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCGTTGCTCAGG	0.507000													45	65					0	0	0.003610	0	0
GK2	2712	broad.mit.edu	37	4	80329056	80329056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:80329056C>T	ENST00000358842.3	-	1	316	c.299G>A	c.(298-300)tGg>tAg	p.W100*		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	100					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TAACTTGTCCCAGATTACAGT	0.408000													46	56					0	0	0.003610	0	0
SMAP2	64744	broad.mit.edu	37	1	40879873	40879873	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:40879873C>T	ENST00000539317.1	+	6	485	c.292C>T	c.(292-294)Ccg>Tcg	p.P98S	SMAP2_ENST00000487871.1_3'UTR	NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	178	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GAAAAGCTCCCCGAAATCCAC	0.423000													44	5					0	0	0.003610	0	0
SERPINA3	12	broad.mit.edu	37	14	95080886	95080886	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:95080886G>A	ENST00000553947.1	+	5	1071	c.183G>A	c.(181-183)caG>caA	p.Q61Q	SERPINA3_ENST00000393080.4_Silent_p.Q36Q|SERPINA3_ENST00000467132.1_Silent_p.Q36Q|SERPINA3_ENST00000393078.3_Silent_p.Q36Q|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	36					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ATCTGACCCAGGAGAACCAAG	0.592000													32	62					0	0	0.008740	0	0
PAQR5	54852	broad.mit.edu	37	15	69652437	69652437	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:69652437C>T	ENST00000340965.3	+	3	686	c.18C>T	c.(16-18)ctC>ctT	p.L6L	PAQR5_ENST00000561153.1_Silent_p.L6L|PAQR5_ENST00000561027.1_3'UTR|PAQR5_ENST00000395407.2_Silent_p.L6L	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	6					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						GCCTGAAGCTCCCCAGGCTGT	0.547000													27	37					0	0	0.002445	0	0
IFT140	9742	broad.mit.edu	37	16	1573573	1573573	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:1573573G>A	ENST00000426508.2	-	26	3762	c.3399C>T	c.(3397-3399)ttC>ttT	p.F1133F	IFT140_ENST00000361339.5_Silent_p.F327F	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1133										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGTGCTCGATGAAGAAGTCGG	0.652000													14	13					0	0	0.003163	0	0
CDH6	1004	broad.mit.edu	37	5	31317547	31317547	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:31317547C>T	ENST00000265071.2	+	10	1843	c.1578C>T	c.(1576-1578)tcC>tcT	p.S526S	CDH6_ENST00000514738.1_Silent_p.S471S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	526	Cadherin 5.				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						TTTCGTTTTCCTTGGCCCCTG	0.408000													46	41					0	0	0.003610	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111768020	111768020	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:111768020C>T	ENST00000375741.2	+	1	397	c.147C>T	c.(145-147)ctC>ctT	p.L49L	ARHGEF7-AS2_ENST00000425094.2_RNA|ARHGEF7_ENST00000370623.3_Silent_p.L49L|ARHGEF7_ENST00000317133.5_Silent_p.L49L|ARHGEF7_ENST00000375739.2_Silent_p.L49L	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	49	CH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGCGCCTGCTCCCCGGGACCA	0.721000													6	8					0	0	0.001168	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6986317	6986317	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:6986317G>A	ENST00000600751.1	-	0	238					NR_024075.1																						CTTCTCAGAGGAATCATGAAA	0.433000													18	21					0	0	0.008871	0	0
FILIP1	27145	broad.mit.edu	37	6	76022383	76022383	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:76022383G>A	ENST00000393004.2	-	5	3386	c.3165C>T	c.(3163-3165)tcC>tcT	p.S1055S	FILIP1_ENST00000370020.1_Silent_p.S956S|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.S1055S			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1055										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TATTGGCATTGGAGTTGTATT	0.468000													95	17					0	0	0.003610	0	0
ZACN	353174	broad.mit.edu	37	17	74075808	74075808	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:74075808C>T	ENST00000334586.5	+	3	331	c.248C>T	c.(247-249)tCc>tTc	p.S83F	ZACN_ENST00000392503.2_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	83					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						ACAATGTCCTCCATGCTGCTG	0.567000													12	16					0	0	0.004007	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64708956	64708956	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:64708956C>T	ENST00000338957.4	+	1	342	c.275C>T	c.(274-276)tCc>tTc	p.S92F	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.S81F	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	81							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAAGTTTCTCCCAGAGCAGC	0.493000													48	51					0	0	0.003610	0	0
ITGA5	3678	broad.mit.edu	37	12	54799659	54799659	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:54799659C>T	ENST00000293379.4	-	10	1219	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	320					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CTTACCTGTTCCCCTGAGAAG	0.542000													31	52					0	0	0.005524	0	0
DNAH17	8632	broad.mit.edu	37	17	76423048	76423048	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:76423048C>T	ENST00000389840.5	-	78	12923	c.12799G>A	c.(12799-12801)Gaa>Aaa	p.E4267K	DNAH17_ENST00000585328.1_Missense_Mutation_p.E4239K|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGCGCATTTCGTTGGTCAGG	0.542000													5	8					0	0	0.001168	0	0
PDGFC	56034	broad.mit.edu	37	4	157771443	157771443	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:157771443C>T	ENST00000502773.1	-	2	734	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	PDGFC_ENST00000541126.1_Intron|PDGFC_ENST00000422544.2_Missense_Mutation_p.E82K	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	82	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CATACATTTTCCTCTACTGCT	0.368000													22	25					0	0	0.002780	0	0
SCN5A	6331	broad.mit.edu	37	3	38674559	38674559	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:38674559C>T	ENST00000413689.1	-	2	433	c.240G>A	c.(238-240)ctG>ctA	p.L80L	SCN5A_ENST00000333535.4_Silent_p.L80L|SCN5A_ENST00000425664.1_Silent_p.L80L|SCN5A_ENST00000455624.2_Silent_p.L80L|SCN5A_ENST00000449557.2_Silent_p.L80L|SCN5A_ENST00000451551.2_Silent_p.L80L|SCN5A_ENST00000450102.2_Silent_p.L80L|SCN5A_ENST00000443581.1_Silent_p.L80L|SCN5A_ENST00000423572.2_Silent_p.L80L|SCN5A_ENST00000414099.2_Silent_p.L80L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	80					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCAGGTCCTCCAGGGGCTCTC	0.612000													14	21					0	0	0.006122	0	0
SPAST	6683	broad.mit.edu	37	2	32323885	32323885	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:32323885C>T	ENST00000315285.3	+	4	732	c.607C>T	c.(607-609)Cca>Tca	p.P203S	SPAST_ENST00000345662.1_Intron	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	203	Required for interaction with RTN1.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACCAGTTTTGCCATTTTCCAA	0.353000													28	36					0	0	0.006320	0	0
HESX1	8820	broad.mit.edu	37	3	57232439	57232439	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:57232439G>A	ENST00000295934.3	-	3	475	c.439C>T	c.(439-441)Cta>Tta	p.L147L	HESX1_ENST00000473921.1_Intron	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		TCTTCCTCTAGATTCAATTTT	0.274000													24	22					0	0	0.006320	0	0
RRP1	8568	broad.mit.edu	37	21	45215096	45215096	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:45215096C>T	ENST00000497547.1	+	5	504	c.387C>T	c.(385-387)tcC>tcT	p.S129S		NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	129					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		TGAACGAGTCCTTGAAGGTTC	0.587000													34	49					0	0	0.004289	0	0
PDE1C	5137	broad.mit.edu	37	7	31867938	31867938	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:31867938C>T	ENST00000396184.3	-	13	1457	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q	PDE1C_ENST00000396191.1_Missense_Mutation_p.R418Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R418Q|PDE1C_ENST00000396193.1_Missense_Mutation_p.R478Q|PDE1C_ENST00000321453.7_Missense_Mutation_p.R418Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	418	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGTGGACTTTCGGTCACACAG	0.468000													41	19					0	0	0.002852	0	0
VGLL3	389136	broad.mit.edu	37	3	87017746	87017746	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:87017746C>T	ENST00000398399.2	-	3	1294	c.931G>A	c.(931-933)Gat>Aat	p.D311N	VGLL3_ENST00000383698.3_Missense_Mutation_p.D311N	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.D311N(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TTACCTGTATCGAATCCCACG	0.393000													30	30					0	0	0.002836	0	0
SLC22A14	9389	broad.mit.edu	37	3	38355425	38355425	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:38355425C>T	ENST00000273173.4	+	7	1462	c.1371C>T	c.(1369-1371)ctC>ctT	p.L457L	SLC22A14_ENST00000448498.1_Silent_p.L457L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	457						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TCCTTTTCCTCCCTGAAGGTA	0.607000													33	24					0	0	0.004878	0	0
LIPK	643414	broad.mit.edu	37	10	90497538	90497538	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:90497538G>A	ENST00000404190.1	+	6	816	c.816_splice	c.e6+1	p.M272_splice		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	272					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		ACTTAAATATGGTAGGTGTAA	0.388000													53	74					0	0	0.003610	0	0
FAM211A	388341	broad.mit.edu	37	17	16365616	16365616	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:16365616C>T	ENST00000409083.3	-	2	493	c.331G>A	c.(331-333)Gac>Aac	p.D111N	C17orf76-AS1_ENST00000584177.1_RNA|FAM211A_ENST00000470794.1_Missense_Mutation_p.D111N|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA	NM_207387.3	NP_997270.2	Q8NAA5	CQ076_HUMAN	family with sequence similarity 211, member A	111										lung(1)	1						ATGATGAGGTCGTGTGTGATG	0.622000													12	10					0	0	0.001855	0	0
MUC2	4583	broad.mit.edu	37	11	1087502	1087502	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:1087502G>A	ENST00000441003.2	+	24	3280	c.3253G>A	c.(3253-3255)Ggt>Agt	p.G1085S	MUC2_ENST00000359061.5_Missense_Mutation_p.G1085S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1085						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTGTGACACGGGTGGGGACTG	0.662000													16	16					0	0	0.004990	0	0
FAT2	2196	broad.mit.edu	37	5	150920164	150920164	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:150920164G>A	ENST00000261800.5	-	10	9015	c.9003C>T	c.(9001-9003)gtC>gtT	p.V3001V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3001	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACGTCCAGGACAAAGATCT	0.547000													10	12					0	0	0.000978	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709432	31709432	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:31709432G>A	ENST00000382835.2	-	1	580	c.555C>T	c.(553-555)ctC>ctT	p.L185L		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	185						intermediate filament		p.L185L(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						AAGATTCCAGGAGTTGTGGCT	0.468000													24	20					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179537423	179537423	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179537423C>T	ENST00000589042.1	-	153	35018	c.34794G>A	c.(34792-34794)aaG>aaA	p.K11598K	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.K10297K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.K11224K|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11430	Glu-rich.|Pro-rich.						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)			CAGGAATTTTCTTTGACACTT	0.363000													9	13					0	0	0.008291	0	0
PREX2	80243	broad.mit.edu	37	8	69136846	69136846	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:69136846C>T	ENST00000288368.4	+	39	5037	c.4760C>T	c.(4759-4761)cCa>cTa	p.P1587L		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1587					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GACCGGACTCCACAGTCTGCA	0.493000													19	25					0	0	0.008871	0	0
SNTG2	54221	broad.mit.edu	37	2	1263153	1263153	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:1263153C>T	ENST00000308624.5	+	13	1146	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	SNTG2_ENST00000407292.1_Silent_p.F212F	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	339	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGAGCACATTCGATTGGGTGC	0.383000													27	29					0	0	0.009535	0	0
AKR1D1	6718	broad.mit.edu	37	7	137773491	137773491	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:137773491G>A	ENST00000242375.3	+	2	280	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000411726.2_Missense_Mutation_p.E80K|AKR1D1_ENST00000432161.1_Missense_Mutation_p.E80K	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	80					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGTGCGGAGGGAAGATATCTT	0.473000													5	5					0	0	0.001168	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102452703	102452703	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:102452703C>T	ENST00000360184.4	+	8	2305	c.2141C>T	c.(2140-2142)tCg>tTg	p.S714L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	714	Interaction with DYNC1LI2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTCGGTGTCTCGGGGCGCATT	0.512000													27	17					0	0	0.007291	0	0
CCDC8	83987	broad.mit.edu	37	19	46914618	46914618	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:46914618C>T	ENST00000307522.3	-	1	2223	c.1450G>A	c.(1450-1452)Gga>Aga	p.G484R		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	484						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GAAAAGCGTCCAGGGGTCTGG	0.612000													28	27					0	0	0.006320	0	0
GPX6	257202	broad.mit.edu	37	6	28472176	28472176	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:28472176G>A	ENST00000361902.1	-	5	608	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	GPX6_ENST00000474923.1_Silent_p.F153F	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	187					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGCCCCACCAGAAATTTCTCA	0.522000													31	77					0	0	0.002445	0	0
OR4K5	79317	broad.mit.edu	37	14	20388892	20388892	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:20388892C>T	ENST00000315915.4	+	1	152	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTGGGAAATCTTCTCATTAT	0.403000													44	108					0	0	0.003610	0	0
OAS3	4940	broad.mit.edu	37	12	113376405	113376405	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:113376405G>A	ENST00000228928.7	+	1	249	c.70G>A	c.(70-72)Gag>Aag	p.E24K	RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000546638.1_3'UTR|OAS3_ENST00000548514.1_Missense_Mutation_p.E24K|OAS3_ENST00000551007.1_Missense_Mutation_p.E24K	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	24	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCCGCGGAAGGAGTTCGTAGA	0.726000													5	11					0	0	0.004482	0	0
IL1RL2	8808	broad.mit.edu	37	2	102835524	102835524	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:102835524G>A	ENST00000264257.2	+	7	962	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	IL1RL2_ENST00000539491.1_Missense_Mutation_p.R279Q|IL1RL2_ENST00000441515.2_Missense_Mutation_p.R161Q|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	279	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GAATCCAAACGAATCAGAGAA	0.403000													29	52					0	0	0.003271	0	0
LRIG2	9860	broad.mit.edu	37	1	113662058	113662058	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:113662058C>T	ENST00000361127.4	+	17	3082	c.2884C>T	c.(2884-2886)Ccg>Tcg	p.P962S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	962						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GAGCCTGATACCGTCAGCCAA	0.493000													33	45					0	0	0.002836	0	0
ZNF521	25925	broad.mit.edu	37	18	22805882	22805882	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:22805882G>A	ENST00000361524.3	-	4	2148	c.2000C>T	c.(1999-2001)cCt>cTt	p.P667L	ZNF521_ENST00000538137.2_Missense_Mutation_p.P667L|ZNF521_ENST00000584787.1_Missense_Mutation_p.P447L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	667					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTTGCACTGAGGACAGGTCAA	0.413000			T	PAX5	ALL								58	78					0	0	0.003610	0	0
C1orf168	199920	broad.mit.edu	37	1	57258448	57258448	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:57258448C>T	ENST00000343433.6	-	2	118	c.38G>A	c.(37-39)cGa>cAa	p.R13Q	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	13										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AAATTTGGCTCGAAGTTCCTT	0.388000													179	13					0	0	0.003610	0	0
ANXA4	307	broad.mit.edu	37	2	70037755	70037755	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:70037755C>T	ENST00000394295.4	+	7	675	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	ANXA4_ENST00000536030.1_Missense_Mutation_p.R59C|ANXA4_ENST00000409920.1_Missense_Mutation_p.R121C	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	141					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						AGATGACATTCGCTCTGACAC	0.488000													27	39					0	0	0.002445	0	0
SFTPD	6441	broad.mit.edu	37	10	81701771	81701771	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:81701771G>A	ENST00000372292.3	-	5	529	c.489C>T	c.(487-489)ggC>ggT	p.G163G		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	163	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CTCCCTTAGGGCCTGCGAGGC	0.617000													28	42					0	0	0.005443	0	0
ST18	9705	broad.mit.edu	37	8	53084939	53084939	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:53084939C>T	ENST00000276480.7	-	10	1165	c.482G>A	c.(481-483)aGc>aAc	p.S161N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	161						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)				TGCTTCATCGCTCTCTGCTTT	0.388000													40	49					0	0	0.009718	0	0
IL17D	53342	broad.mit.edu	37	13	21295856	21295856	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:21295856C>T	ENST00000304920.3	+	3	480	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_138284.1	NP_612141.1	Q8TAD2	IL17D_HUMAN	interleukin 17D	124					inflammatory response	extracellular space	cytokine activity			endometrium(1)|skin(1)	2		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		CCGGGCTGTTCGGCGAGGAGG	0.706000													20	34					0	0	0.010504	0	0
LAMP5	24141	broad.mit.edu	37	20	9510314	9510314	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:9510314G>A	ENST00000246070.2	+	6	1182	c.690G>A	c.(688-690)cgG>cgA	p.R230R	LAMP5_ENST00000427562.2_Silent_p.R186R	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	230						integral to membrane											TGGATGAGCGGGAGCAACTGG	0.468000													17	23					0	0	0.010504	0	0
CCDC178	374864	broad.mit.edu	37	18	30804827	30804827	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:30804827G>A	ENST00000383096.3	-	17	1912	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V	CCDC178_ENST00000402325.1_Missense_Mutation_p.A577V|CCDC178_ENST00000403303.1_Missense_Mutation_p.A577V|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.A577V|CCDC178_ENST00000583930.1_Missense_Mutation_p.A577V|CCDC178_ENST00000300227.8_Missense_Mutation_p.A577V|CCDC178_ENST00000406524.2_Missense_Mutation_p.A577V					coiled-coil domain containing 178																		CAGTGACATGGCACATATTGC	0.368000													24	36					0	0	0.003954	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166214	180166214	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:180166214G>A	ENST00000307832.2	-	1	885	c.845C>T	c.(844-846)cCc>cTc	p.P282L		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTGAGAATGGGGGTAATTAT	0.428000													68	90					0	0	0.003610	0	0
VAC14	55697	broad.mit.edu	37	16	70820255	70820255	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:70820255A>G	ENST00000261776.5	-	2	378	c.118T>C	c.(118-120)Ttc>Ctc	p.F40L		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	40					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGGGCCACGAACTCCCGGACC	0.617000													24	30					0	0	0.005443	0	0
SPATA21	374955	broad.mit.edu	37	1	16736220	16736220	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:16736220C>T	ENST00000335496.1	-	6	945	c.463G>A	c.(463-465)Gga>Aga	p.G155R	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.G132R	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	155	Pro-rich.						calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		ACCGGGGCTCCCATGGGGGCA	0.697000													10	9					0	0	0.006214	0	0
KCTD8	386617	broad.mit.edu	37	4	44450352	44450352	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:44450352G>A	ENST00000360029.3	-	1	472	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	63	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CCGGGACGCTGAGCAGCGTCG	0.711000										HNSCC(17;0.042)			5	9					0	0	0.001984	0	0
OR5B17	219965	broad.mit.edu	37	11	58125899	58125899	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:58125899G>A	ENST00000357377.3	-	1	643	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACAGATAGGAAATCAAGGT	0.373000													10	22					0	0	0.006214	0	0
TBC1D4	9882	broad.mit.edu	37	13	75863085	75863085	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:75863085G>A	ENST00000377636.3	-	20	3994	c.3648C>T	c.(3646-3648)ctC>ctT	p.L1216L	TBC1D4_ENST00000425511.1_Silent_p.L380L|TBC1D4_ENST00000431480.2_Silent_p.L1208L|TBC1D4_ENST00000377625.2_Silent_p.L1153L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1216						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATTTTTCTAGGAGGTCCATGT	0.408000													40	48					0	0	0.009718	0	0
SLIT2	9353	broad.mit.edu	37	4	20619147	20619147	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:20619147G>A	ENST00000504154.1	+	36	4474	c.4222G>A	c.(4222-4224)Gaa>Aaa	p.E1408K	SLIT2_ENST00000273739.5_Missense_Mutation_p.E1421K|SLIT2_ENST00000503823.1_Missense_Mutation_p.E1400K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E1404K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1408					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCTCTGTGATGAAGAGGAGGA	0.552000													15	13					0	0	0.004007	0	0
HECW2	57520	broad.mit.edu	37	2	197086952	197086952	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:197086952C>T	ENST00000260983.2	-	24	4311	c.4129G>A	c.(4129-4131)Gaa>Aaa	p.E1377K	HECW2_ENST00000409111.1_Missense_Mutation_p.E1021K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1377	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AATACTTCTTCGTTCACAGTG	0.453000													30	31					0	0	0.009535	0	0
C19orf57	79173	broad.mit.edu	37	19	14000427	14000427	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:14000427G>A	ENST00000454313.1	-	6	1300	c.1242C>T	c.(1240-1242)ggC>ggT	p.G414G	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.G414G|C19orf57_ENST00000586783.1_Silent_p.G414G			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	414					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AGGCTGTAGGGCCCACTAGGA	0.642000													13	11					0	0	0.001368	0	0
KCNMA1	3778	broad.mit.edu	37	10	78846346	78846346	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:78846346G>T	ENST00000286627.5	-	11	2292	c.1340C>A	c.(1339-1341)tCc>tAc	p.S447Y	KCNMA1_ENST00000286628.8_Missense_Mutation_p.S447Y|KCNMA1_ENST00000372443.1_Missense_Mutation_p.S447Y|KCNMA1_ENST00000404857.1_Missense_Mutation_p.S447Y|KCNMA1_ENST00000354353.5_Missense_Mutation_p.S447Y|KCNMA1_ENST00000372440.1_Missense_Mutation_p.S447Y|KCNMA1_ENST00000406533.3_Missense_Mutation_p.S447Y|KCNMA1_ENST00000404771.3_Missense_Mutation_p.S447Y	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	447	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CAGGTTGGGGGAGATGCTACA	0.478000													15	22					1.37285e-15	2.42485e-15	0.004007	1	0
IGHV4-39	28394	broad.mit.edu	37	14	106877891	106877891	+	RNA	SNP	G	G	A	rs149688840	by1000genomes	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:106877891G>A	ENST00000390619.2	-	0	152																											ACCAGTCCTGGGCCCGACTCC	0.602000													24	23					0	0	0.003954	0	0
PRKDC	5591	broad.mit.edu	37	8	48707049	48707049	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:48707049G>A	ENST00000314191.2	-	75	10525	c.10469C>T	c.(10468-10470)cCc>cTc	p.P3490L	PRKDC_ENST00000338368.3_Missense_Mutation_p.P3490L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3491	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGCCAGCAGGGAACGGAAGA	0.418000								Non-homologous end-joining					10	17					0	0	0.000978	0	0
AK7	122481	broad.mit.edu	37	14	96953373	96953373	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:96953373G>A	ENST00000267584.4	+	17	2157	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	705	DPY-30.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CGTCCGACCCGAAGACCCTGT	0.413000													31	32					0	0	0.004289	0	0
SLIT1	6585	broad.mit.edu	37	10	98820540	98820540	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:98820540C>T	ENST00000266058.4	-	9	1043	c.798G>A	c.(796-798)caG>caA	p.Q266Q	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.Q266Q|SLIT1_ENST00000371070.4_Silent_p.Q266Q	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	266					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCGCTTCTCCCTGGCCTGCAG	0.637000													9	5					0	0	0.006214	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39439003	39439003	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:39439003C>T	ENST00000308521.5	+	2	436	c.79C>T	c.(79-81)Ctt>Ttt	p.L27F	APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000381565.2_Missense_Mutation_p.L27F|APOBEC3F_ENST00000491387.1_3'UTR	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	27					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					TAGACCCATCCTTTCTCGTCG	0.488000													12	13					0	0	0.000978	0	0
ERAP2	64167	broad.mit.edu	37	5	96215576	96215576	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:96215576C>T	ENST00000437043.3	+	2	898	c.187C>T	c.(187-189)Cct>Tct	p.P63S	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.P63S|ERAP2_ENST00000510309.1_Missense_Mutation_p.P63S	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	63					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)		GGAACGATTTCCTTGGCAGGA	0.493000													20	22					0	0	0.010504	0	0
PLCE1	51196	broad.mit.edu	37	10	95987188	95987188	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:95987188G>A	ENST00000260766.3	+	5	2569	c.1935G>A	c.(1933-1935)atG>atA	p.M645I	PLCE1_ENST00000371385.3_Missense_Mutation_p.M337I|PLCE1_ENST00000371375.1_Missense_Mutation_p.M337I|PLCE1_ENST00000371380.2_Missense_Mutation_p.M645I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	645	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACGCTGTCATGGAGTTCTTGG	0.493000													77	99					0	0	0.003610	0	0
OR11G2	390439	broad.mit.edu	37	14	20665809	20665809	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:20665809C>T	ENST00000357366.3	+	1	315	c.315C>T	c.(313-315)tcC>tcT	p.S105S		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCAACTTCTCCTTCTTGGAGA	0.532000													34	24					0	0	0.004289	0	0
TOP2A	7153	broad.mit.edu	37	17	38568058	38568058	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:38568058G>A	ENST00000423485.1	-	8	960	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	268					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ACATAACTACGAAATCCTTTT	0.343000													13	27					0	0	0.001368	0	0
BDP1	55814	broad.mit.edu	37	5	70806623	70806623	+	Missense_Mutation	SNP	C	C	T	rs5868598		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:70806623C>T	ENST00000358731.4	+	17	3967	c.3704C>T	c.(3703-3705)tCc>tTc	p.S1235F	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1235	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAAGAAATTTCCCAAAGGGAA	0.398000													72	66					0	0	0.003610	0	0
CR2	1380	broad.mit.edu	37	1	207646436	207646436	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:207646436T>G	ENST00000367057.3	+	10	2079	c.1890T>G	c.(1888-1890)tgT>tgG	p.C630W	CR2_ENST00000458541.2_Missense_Mutation_p.C603W|CR2_ENST00000367058.3_Missense_Mutation_p.C630W|CR2_ENST00000367059.3_Missense_Mutation_p.C630W	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	630	Sushi 10.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CATTCAAGTGTTATAGTGGAT	0.408000													129	6					0	0	0.003610	0	0
SLC6A12	6539	broad.mit.edu	37	12	309836	309836	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:309836C>T	ENST00000428720.1	-	7	1435	c.692G>A	c.(691-693)gGg>gAg	p.G231E	SLC6A12_ENST00000397296.2_Missense_Mutation_p.G231E|SLC6A12_ENST00000359674.4_Missense_Mutation_p.G231E|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000424061.2_Missense_Mutation_p.G231E|SLC6A12_ENST00000536824.1_Missense_Mutation_p.G231E	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	231					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGACTTGACCCCCTTCCAGAT	0.627000													43	61					0	0	0.002852	0	0
DDX27	55661	broad.mit.edu	37	20	47859199	47859199	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:47859199C>T	ENST00000371764.4	+	19	2287	c.2278C>T	c.(2278-2280)Ctg>Ttg	p.L760L	DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	760						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAAGAAGGCCCTGAAACAGTA	0.413000													44	59					0	0	0.003610	0	0
PM20D1	148811	broad.mit.edu	37	1	205813229	205813229	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:205813229C>T	ENST00000367136.4	-	5	737	c.693G>A	c.(691-693)aaG>aaA	p.K231K	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	231						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CGATGGGCTTCTTGAAGTTAG	0.537000													193	5					0	0	0.003610	0	0
GRK7	131890	broad.mit.edu	37	3	141535598	141535598	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:141535598G>A	ENST00000264952.2	+	4	1505	c.1368G>A	c.(1366-1368)acG>acA	p.T456T		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	456	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TCTTTAAAACGATCAACTTTC	0.423000													44	65					0	0	0.003610	0	0
TENM1	10178	broad.mit.edu	37	X	124029937	124029937	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:124029937C>T	ENST00000422452.2	-	2	434	c.371G>A	c.(370-372)tGg>tAg	p.W124*	TENM1_ENST00000371130.3_Nonsense_Mutation_p.W124*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCCCCTTATCCACATTCTTAG	0.502000													214	133					0	0	0.003610	0	0
COL1A2	1278	broad.mit.edu	37	7	94045765	94045765	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:94045765C>T	ENST00000297268.6	+	31	2284	c.1813C>T	c.(1813-1815)Cct>Tct	p.P605S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	605					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCTACTGGTCCTATTGGAAG	0.502000										HNSCC(75;0.22)			9	4					0	0	0.008291	0	0
LILRA5	353514	broad.mit.edu	37	19	54822648	54822648	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:54822648C>T	ENST00000446712.3	-	4	790	c.712G>A	c.(712-714)Gga>Aga	p.G238R	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Intron|LILRA5_ENST00000432233.3_Missense_Mutation_p.G250R|LILRA5_ENST00000301219.3_Intron	NM_181986.2	NP_871715.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	0					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCTGGCTTCCCTGAATTGTA	0.517000													25	29					0	0	0.003954	0	0
PNMA3	29944	broad.mit.edu	37	X	152226667	152226667	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:152226667G>A	ENST00000447306.1	+	2	1591	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	PNMA3_ENST00000370265.4_Missense_Mutation_p.E419K|PNMA3_ENST00000370264.4_Missense_Mutation_p.E419K	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	419					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)					TAGCTGTGGGGAAGACGGCCA	0.582000													57	97					0	0	0.003610	0	0
CCNJ	54619	broad.mit.edu	37	10	97816608	97816608	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:97816608T>C	ENST00000265992.5	+	4	798	c.431T>C	c.(430-432)cTt>cCt	p.L144P	ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.L144P|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.L144P|CCNJ_ENST00000534974.1_Missense_Mutation_p.L144P|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	144						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AACCTCTGCCTTCCAACAGCC	0.378000													46	43					0	0	0.003610	0	0
NAV3	89795	broad.mit.edu	37	12	78574770	78574770	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:78574770G>A	ENST00000397909.2	+	30	5810	c.5637G>A	c.(5635-5637)agG>agA	p.R1879R	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Silent_p.R1680R|NAV3_ENST00000536525.2_Silent_p.R1857R|NAV3_ENST00000228327.6_Silent_p.R1857R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1879	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATCTTCCAGGCAGTCATTAG	0.473000										HNSCC(70;0.22)			40	52					0	0	0.008740	0	0
SCN1A	6323	broad.mit.edu	37	2	166894574	166894574	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:166894574G>A	ENST00000423058.2	-	15	2675	c.2658C>T	c.(2656-2658)tcC>tcT	p.S886S	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Silent_p.S886S|SCN1A_ENST00000409050.1_Silent_p.S858S|SCN1A_ENST00000375405.3_Silent_p.S875S|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	886						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GAGCCCCCACGGAATTGCCGA	0.408000													31	42					0	0	0.007291	0	0
MECOM	2122	broad.mit.edu	37	3	168833244	168833244	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:168833244C>T	ENST00000464456.1	-	7	3052	c.1852G>A	c.(1852-1854)Gaa>Aaa	p.E618K	MECOM_ENST00000494292.1_Missense_Mutation_p.E806K|MECOM_ENST00000392736.3_Missense_Mutation_p.E618K|MECOM_ENST00000472280.1_Missense_Mutation_p.E619K|MECOM_ENST00000433243.2_Missense_Mutation_p.E619K|MECOM_ENST00000460814.1_Missense_Mutation_p.E618K|MECOM_ENST00000468789.1_Missense_Mutation_p.E618K|MECOM_ENST00000264674.3_Missense_Mutation_p.E683K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	27							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGTCTTGATTCGACGTTGCTT	0.473000													20	19					0	0	0.010504	0	0
OR6T1	219874	broad.mit.edu	37	11	123814495	123814495	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:123814495G>A	ENST00000321252.2	-	1	85	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGCTACTGGGGAAACCCAGAA	0.473000													43	7					0	0	0.002852	0	0
COL28A1	340267	broad.mit.edu	37	7	7457503	7457503	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:7457503G>A	ENST00000399429.3	-	27	2263	c.2123C>T	c.(2122-2124)tCa>tTa	p.S708L		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	708					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AATTCCCTGTGATCCATAGCC	0.468000													49	32					0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	216497555	216497555	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:216497555C>T	ENST00000366943.2	-	7	1669	c.1283G>A	c.(1282-1284)gGa>gAa	p.G428E	USH2A_ENST00000307340.3_Missense_Mutation_p.G428E|USH2A_ENST00000366942.3_Missense_Mutation_p.G428E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	428	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCCAAATCTCCATTGTTTTT	0.318000										HNSCC(13;0.011)			57	1					0	0	0.003610	0	0
TRIM31	11074	broad.mit.edu	37	6	30075858	30075858	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:30075858G>A	ENST00000376734.3	-	6	980	c.855C>T	c.(853-855)tcC>tcT	p.S285S	TRIM31_ENST00000540829.1_Silent_p.S285S|TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	285						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TCCCTGTGATGGAGTCATGTC	0.428000													9	52					0	0	0.004007	0	0
CASR	846	broad.mit.edu	37	3	122002959	122002959	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:122002959G>A	ENST00000498619.1	+	7	2626	c.2188G>A	c.(2188-2190)Ggg>Agg	p.G730R	CASR_ENST00000296154.5_Missense_Mutation_p.G720R|CASR_ENST00000490131.1_Missense_Mutation_p.G720R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	720					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAAGTGGTGGGGGCTCAACCT	0.567000													16	11					0	0	0.004007	0	0
UNC13C	440279	broad.mit.edu	37	15	54586243	54586243	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:54586243G>A	ENST00000545554.1	+	10	3969	c.3969G>A	c.(3967-3969)atG>atA	p.M1323I	UNC13C_ENST00000537900.1_Missense_Mutation_p.M1321I|UNC13C_ENST00000260323.11_Missense_Mutation_p.M1323I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1323					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTGGAGAAATGGATGTCTGGT	0.343000													90	117					0	0	0.003610	0	0
PCDH18	54510	broad.mit.edu	37	4	138451272	138451272	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:138451272G>A	ENST00000344876.4	-	1	2357	c.1971C>T	c.(1969-1971)atC>atT	p.I657I	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Silent_p.I657I|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.I437I	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	657	Cadherin 6.				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)					TGTCCTGAATGATAACTGACA	0.423000													68	106					0	0	0.003610	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368512	86368512	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:86368512C>T	ENST00000400286.2	-	2	2730	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	711						integral to membrane		p.G711E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGCATCACTTCCTTCTTTCTC	0.413000													98	114					0	0	0.003610	0	0
PTPRR	5801	broad.mit.edu	37	12	71095033	71095033	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:71095033G>A	ENST00000283228.2	-	7	1530	c.1078C>T	c.(1078-1080)Cca>Tca	p.P360S	PTPRR_ENST00000378778.1_Missense_Mutation_p.P154S|PTPRR_ENST00000549308.1_Missense_Mutation_p.P115S|PTPRR_ENST00000342084.4_Missense_Mutation_p.P248S|PTPRR_ENST00000440835.2_Missense_Mutation_p.P115S	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	360					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CGTGGTGTTGGTATAGACACA	0.458000													34	51					0	0	0.004289	0	0
SPAG17	200162	broad.mit.edu	37	1	118624248	118624248	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:118624248C>T	ENST00000336338.5	-	14	1845	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	594						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CGTTCTACTTCATTCCAGCTC	0.458000													55	4					0	0	0.003610	0	0
SATB1	6304	broad.mit.edu	37	3	18390985	18390985	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:18390985C>T	ENST00000338745.6	-	11	3703	c.1969G>A	c.(1969-1971)Gga>Aga	p.G657R	SATB1_ENST00000454909.2_Missense_Mutation_p.G657R|SATB1_ENST00000417717.2_Missense_Mutation_p.G689R|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	657					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGGAGGATTCCCAAGGCTTCC	0.562000													52	44					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168074691	168074691	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:168074691G>A	ENST00000409195.1	+	5	828	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	XIRP2_ENST00000409273.1_Missense_Mutation_p.E25K|XIRP2_ENST00000409728.1_Missense_Mutation_p.E280K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E247K|XIRP2_ENST00000409043.1_Missense_Mutation_p.E247K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E280K|XIRP2_ENST00000409756.2_Missense_Mutation_p.E247K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E25K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	72					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAAGAATCAGAAATGTGCGC	0.378000													34	40					0	0	0.004878	0	0
LSAMP	4045	broad.mit.edu	37	3	115805321	115805321	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:115805321G>A	ENST00000490035.1	-	2	737	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	LSAMP_ENST00000539563.1_Silent_p.L77L	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	80	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CGTGGGTCCAGAGACCACTTG	0.502000													33	39					0	0	0.004289	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956018	18956018	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:18956018G>A	ENST00000302797.3	-	1	538	c.314C>T	c.(313-315)tCc>tTc	p.S105F	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	105					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCAAAGTAGGAAAACATCAT	0.547000													49	112					0	0	0.003610	0	0
WDR25	79446	broad.mit.edu	37	14	100995455	100995455	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:100995455C>T	ENST00000335290.6	+	6	1549	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	WDR25_ENST00000402312.3_Silent_p.F441F|WDR25_ENST00000554998.1_Silent_p.F441F|WDR25_ENST00000542471.2_Silent_p.F184F|WDR25_ENST00000557502.1_3'UTR	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	441										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				AGCCCGTGTTCCTGGCACAGA	0.597000													11	17					0	0	0.001368	0	0
CACNA1C	775	broad.mit.edu	37	12	2224556	2224556	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:2224556C>T	ENST00000399655.1	+	2	481	c.216C>T	c.(214-216)acC>acT	p.T72T	CACNA1C_ENST00000480911.1_Silent_p.T72T|CACNA1C_ENST00000335762.5_Silent_p.T72T|CACNA1C_ENST00000399591.1_Silent_p.T72T|CACNA1C_ENST00000399621.1_Silent_p.T72T|CACNA1C_ENST00000399637.1_Silent_p.T72T|CACNA1C_ENST00000402845.3_Silent_p.T72T|CACNA1C_ENST00000399644.1_Silent_p.T72T|CACNA1C_ENST00000399597.1_Silent_p.T72T|CACNA1C_ENST00000399629.1_Silent_p.T72T|CACNA1C_ENST00000344100.3_Silent_p.T72T|CACNA1C_ENST00000327702.7_Silent_p.T72T|CACNA1C_ENST00000399634.1_Silent_p.T72T|CACNA1C_ENST00000399649.1_Silent_p.T72T|CACNA1C_ENST00000347598.4_Silent_p.T72T|CACNA1C_ENST00000399638.1_Silent_p.T72T|CACNA1C_ENST00000399641.1_Silent_p.T72T|CACNA1C_ENST00000406454.3_Silent_p.T72T|CACNA1C_ENST00000399603.1_Silent_p.T72T|CACNA1C_ENST00000399617.1_Silent_p.T72T|CACNA1C_ENST00000399595.1_Silent_p.T72T|CACNA1C_ENST00000399601.1_Silent_p.T72T|CACNA1C_ENST00000399606.1_Silent_p.T72T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	72					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCAATGCGACCATCTCCACAG	0.687000													6	2					0	0	0.001168	0	0
RP1L1	94137	broad.mit.edu	37	8	10465880	10465880	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:10465880C>T	ENST00000382483.3	-	4	5951	c.5728G>A	c.(5728-5730)Gag>Aag	p.E1910K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1910					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTTTCTGCCTCCGGGGCTTCT	0.607000													79	101					0	0	0.003610	0	0
STAT4	6775	broad.mit.edu	37	2	191897687	191897687	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:191897687C>T	ENST00000392320.2	-	21	2355	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	STAT4_ENST00000358470.4_Missense_Mutation_p.E681K	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	681					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACCTAACCTTCGCAAGGCTGA	0.363000													24	32					0	0	0.002780	0	0
MEP1A	4224	broad.mit.edu	37	6	46803057	46803057	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:46803057C>T	ENST00000230588.4	+	13	1864	c.1855C>T	c.(1855-1857)Caa>Taa	p.Q619*		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	619					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CCTCATTCTCCAAGGCCAGGA	0.552000													8	3					0	0	0.003080	0	0
KCNIP1	30820	broad.mit.edu	37	5	169780940	169780940	+	Silent	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:169780940T>C	ENST00000377360.4	+	1	450	c.60T>C	c.(58-60)ttT>ttC	p.F20F	KCNIP1_ENST00000518527.1_3'UTR	NM_001034838.2	NP_001030010.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	0					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGACCATCTTTAAGCTCATCA	0.552000													4	30					0	0	0.009096	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428792	120428792	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:120428792C>T	ENST00000222747.3	-	8	1379	c.772G>A	c.(772-774)Gac>Aac	p.D258N	TSPAN12_ENST00000415871.1_Missense_Mutation_p.D258N	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	258					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					ATCATTTGGTCTGTCCCCGGC	0.468000													56	35					0	0	0.003610	0	0
ZNF285	26974	broad.mit.edu	37	19	44890838	44890838	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:44890838C>T	ENST00000330997.4	-	4	1633	c.1569G>A	c.(1567-1569)cgG>cgA	p.R523R	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.R530R|ZNF285_ENST00000544719.2_Silent_p.R523R	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GATCTGAATTCCGGCTGAAGC	0.413000													31	34					0	0	0.002445	0	0
CARD11	84433	broad.mit.edu	37	7	2962334	2962334	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:2962334C>T	ENST00000396946.4	-	17	2606	c.2203G>A	c.(2203-2205)Gaa>Aaa	p.E735K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	735	PDZ.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGTGGGCTTCCTCTTTGGTG	0.617000			Mis		DLBCL								28	41					0	0	0.008361	0	0
MS4A1	931	broad.mit.edu	37	11	60233401	60233401	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:60233401G>A	ENST00000534668.1	+	5	633	c.344G>A	c.(343-345)gGa>gAa	p.G115E	MS4A1_ENST00000532073.1_Missense_Mutation_p.G115E|MS4A1_ENST00000345732.4_Missense_Mutation_p.G115E|MS4A1_ENST00000389939.2_Missense_Mutation_p.G115E|MS4A1_ENST00000528313.1_Intron	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	115					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CAGGTCAAAGGAAAAATGATA	0.338000													26	33					0	0	0.009535	0	0
OR11A1	26531	broad.mit.edu	37	6	29394864	29394864	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:29394864G>A	ENST00000377149.1	-	5	1027	c.555C>T	c.(553-555)ttC>ttT	p.F185F	OR11A1_ENST00000377148.1_Silent_p.F185F|OR11A1_ENST00000377147.2_Silent_p.F185F|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F185F(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CCAGGCCCACGAAAAGCATAA	0.512000													11	26					0	0	0.008291	0	0
ACE	1636	broad.mit.edu	37	17	61574170	61574170	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:61574170A>G	ENST00000577647.1	+	13	1838	c.1793A>G	c.(1792-1794)aAg>aGg	p.K598R	ACE_ENST00000428043.1_Intron|ACE_ENST00000413513.3_Missense_Mutation_p.K557R|ACE_ENST00000490216.2_Missense_Mutation_p.K598R|ACE_ENST00000290863.6_Missense_Mutation_p.K598R|ACE_ENST00000421982.2_Missense_Mutation_p.K377R|ACE_ENST00000290866.4_Missense_Mutation_p.K1172R			P12821	ACE_HUMAN	angiotensin I converting enzyme	1172	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACCGCCATGAAGCTGGGCTTC	0.627000													12	23					0	0	0.001855	0	0
OR10K2	391107	broad.mit.edu	37	1	158390140	158390140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:158390140G>A	ENST00000314902.2	-	1	516	c.517C>T	c.(517-519)Caa>Taa	p.Q173*		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TGATGTAGTTGATTGGAGGAA	0.463000													96	4					0	0	0.003610	0	0
BRAF	673	broad.mit.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	T	C	rs121913370		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:140453193T>C	ENST00000288602.6	-	15	1802	c.1741_splice	c.e15-1	p.N581_splice		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	581	Protein kinase.		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AAGAAATATATCTGAGGTGTA	0.358000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				39	33					0	0	0.009718	0	0
RFTN1	23180	broad.mit.edu	37	3	16450977	16450977	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:16450977C>T	ENST00000334133.4	-	4	618	c.346G>A	c.(346-348)Gat>Aat	p.D116N	RFTN1_ENST00000432519.1_Missense_Mutation_p.D80N	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	116						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TTGTGAAGATCAGTTTTCTGA	0.423000													17	26					0	0	0.006122	0	0
BMP5	653	broad.mit.edu	37	6	55659080	55659080	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:55659080C>T	ENST00000370830.3	-	3	1527	c.829G>A	c.(829-831)Gat>Aat	p.D277N	BMP5_ENST00000446683.2_Missense_Mutation_p.D277N	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	277					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGCTTACCATCCCCTGTTTCT	0.348000													24	36					0	0	0.002299	0	0
ANKS1B	56899	broad.mit.edu	37	12	99898353	99898353	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:99898353G>A	ENST00000547776.2	-	10	1338	c.1339C>T	c.(1339-1341)Cct>Tct	p.P447S	ANKS1B_ENST00000329257.7_Missense_Mutation_p.P447S|ANKS1B_ENST00000547010.1_Missense_Mutation_p.P27S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	447						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTTCTGAAGGAAATGTATCC	0.388000													7	14					0	0	0.003080	0	0
FAM83C	128876	broad.mit.edu	37	20	33874741	33874741	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:33874741G>A	ENST00000374408.3	-	4	1937	c.1841C>T	c.(1840-1842)tCc>tTc	p.S614F		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	614										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCTGGCTGAGGAGTTGGTTTC	0.617000													21	31					0	0	0.002299	0	0
OR52R1	119695	broad.mit.edu	37	11	4824732	4824732	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:4824732G>A	ENST00000380382.1	-	1	1115	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	OR52R1_ENST00000356069.2_Silent_p.I293I|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	293					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)		CTCCATAAATGATGGGGTTGA	0.473000													49	71					0	0	0.003610	0	0
FBXO39	162517	broad.mit.edu	37	17	6683602	6683602	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:6683602C>T	ENST00000321535.4	+	2	545	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	139										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GCTGGACCGCCTGGTATGGAG	0.502000													19	32					0	0	0.008871	0	0
ESRRG	2104	broad.mit.edu	37	1	216850662	216850662	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:216850662C>T	ENST00000391890.3	-	4	676	c.159G>A	c.(157-159)caG>caA	p.Q53Q	ESRRG_ENST00000408911.3_Silent_p.Q76Q|ESRRG_ENST00000463665.1_Silent_p.Q53Q|ESRRG_ENST00000366940.2_Silent_p.Q53Q|ESRRG_ENST00000493748.1_Silent_p.Q53Q|ESRRG_ENST00000487276.1_Silent_p.Q53Q|ESRRG_ENST00000366937.1_Silent_p.Q81Q|ESRRG_ENST00000361395.2_Silent_p.Q53Q|ESRRG_ENST00000359162.2_Silent_p.Q53Q|ESRRG_ENST00000360012.3_Silent_p.Q53Q|ESRRG_ENST00000493603.1_Silent_p.Q53Q|ESRRG_ENST00000361525.3_Silent_p.Q53Q|ESRRG_ENST00000366938.2_Silent_p.Q53Q	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	76					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CAAGTCCGTTCTGATGGCCAT	0.572000													91	2					0	0	0.003610	0	0
PPFIA2	8499	broad.mit.edu	37	12	81671177	81671177	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:81671177C>T	ENST00000550584.2	-	27	3524	c.3229G>A	c.(3229-3231)Gga>Aga	p.G1077R	PPFIA2_ENST00000552948.1_Missense_Mutation_p.G1056R|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G1062R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G972R|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G924R|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G976R|PPFIA2_ENST00000541017.1_Missense_Mutation_p.G263R|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G1065R|PPFIA2_ENST00000549396.1_Missense_Mutation_p.G1077R|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G613R|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G1071R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	976										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CACATAATTCCATATTGTAAA	0.308000													5	14					0	0	0.000602	0	0
CWH43	80157	broad.mit.edu	37	4	49040068	49040068	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:49040068G>A	ENST00000226432.4	+	13	1857	c.1674G>A	c.(1672-1674)agG>agA	p.R558R	CWH43_ENST00000513409.1_Silent_p.R531R	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	558					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACCTCGACAGGAAACTGCAGG	0.353000													105	127					0	0	0.003610	0	0
RANBP3	8498	broad.mit.edu	37	19	5932511	5932511	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:5932511G>A	ENST00000340578.6	-	7	574	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000591092.1_Missense_Mutation_p.R105C|RANBP3_ENST00000439268.2_Missense_Mutation_p.R173C|RANBP3_ENST00000034275.8_Missense_Mutation_p.R105C|RANBP3_ENST00000541471.1_Missense_Mutation_p.R45C	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	173					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						ACTGCCGGGCGAAGCACGCTC	0.667000													35	50					0	0	0.006999	0	0
CD86	942	broad.mit.edu	37	3	121774344	121774344	+	Missense_Mutation	SNP	C	C	T	rs141814734	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:121774344C>T	ENST00000330540.2	+	1	124	c.8C>T	c.(7-9)cCc>cTc	p.P3L	CD86_ENST00000264468.5_Missense_Mutation_p.P3L|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000493101.1_Missense_Mutation_p.P3L	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	3					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AAAATGGATCCCCAGTGGTGA	0.458000													30	52					0	0	0.002445	0	0
SYNJ1	8867	broad.mit.edu	37	21	34072229	34072229	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:34072229G>A	ENST00000382499.2	-	4	514	c.515C>T	c.(514-516)tCt>tTt	p.S172F	SYNJ1_ENST00000322229.7_Missense_Mutation_p.S133F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.S133F|SYNJ1_ENST00000382491.3_Missense_Mutation_p.S133F|SYNJ1_ENST00000433931.2_Missense_Mutation_p.S172F	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	133	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCCAGATGCAGACCATGCAAA	0.383000													13	14					0	0	0.001855	0	0
PSG8	440533	broad.mit.edu	37	19	43259341	43259341	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:43259341C>T	ENST00000404209.4	-	4	883	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.E141K|PSG8_ENST00000401467.2_Missense_Mutation_p.E170K|PSG8_ENST00000306511.4_Missense_Mutation_p.E263K	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	263	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTCTTAGGTTCACAGGTGAAG	0.473000													99	90					0	0	0.003610	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334429	37334429	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:37334429C>T	ENST00000262825.5	+	14	2814	c.2597C>T	c.(2596-2598)cCc>cTc	p.P866L	CSF2RB_ENST00000406230.1_Missense_Mutation_p.P866L|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P807L|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P860L	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	860					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GTCAAGAAGCCCCCAGGCCAG	0.617000													66	71					0	0	0.003610	0	0
ARL15	54622	broad.mit.edu	37	5	53467730	53467730	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:53467730G>A	ENST00000504924.1	-	2	170	c.77C>T	c.(76-78)cCa>cTa	p.P26L	ARL15_ENST00000502271.1_Intron|ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000507646.2_Missense_Mutation_p.P26L	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	26							GTP binding			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				TGCAGGTGGTGGTCCCTTGCA	0.433000													13	22					0	0	0.002450	0	0
WDR96	80217	broad.mit.edu	37	10	105926332	105926332	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:105926332C>T	ENST00000357060.3	-	23	3068	c.2953G>A	c.(2953-2955)Gat>Aat	p.D985N	WDR96_ENST00000428666.1_Missense_Mutation_p.D986N	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	985										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCCCAAAATCAGTACTCAGA	0.373000													35	28					0	0	0.003755	0	0
MAGED1	9500	broad.mit.edu	37	X	51641707	51641707	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:51641707G>A	ENST00000375695.2	+	11	2133	c.1980G>A	c.(1978-1980)agG>agA	p.R660R	MAGED1_ENST00000375722.1_Silent_p.R604R|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Silent_p.R604R|MAGED1_ENST00000375772.3_Silent_p.R604R	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	604	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GAGATCTAAGGAAACTTCTCA	0.448000										Multiple Myeloma(10;0.10)			23	18					0	0	0.007291	0	0
NLRP13	126204	broad.mit.edu	37	19	56443675	56443675	+	Translation_Start_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:56443675C>T	ENST00000588751.1	-	1	27	c.3G>A	c.(1-3)atG>atA	p.M1I	NLRP13_ENST00000342929.3_Start_Codon_SNP_p.M1I			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	1	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGAAAAGTTCATCTTGCCCA	0.478000													21	19					0	0	0.001882	0	0
ART3	419	broad.mit.edu	37	4	77003456	77003456	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:77003456T>A	ENST00000355810.4	+	3	668	c.549T>A	c.(547-549)ttT>ttA	p.F183L	ART3_ENST00000341029.5_Missense_Mutation_p.F183L|ART3_ENST00000513494.1_3'UTR|ART3_ENST00000349321.3_Missense_Mutation_p.F183L	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	183					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGGCCATTTTACCTTGGCAT	0.433000													16	21					0	0	0.003163	0	0
WDFY3	23001	broad.mit.edu	37	4	85663060	85663060	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:85663060G>A	ENST00000322366.6	-	38	6495	c.6088C>T	c.(6088-6090)Ctg>Ttg	p.L2030L	WDFY3_ENST00000295888.4_Silent_p.L2030L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2030						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTAATAGGCAGAGATGCATCT	0.408000													16	20					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179648923	179648923	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179648923G>A	ENST00000589042.1	-	16	2873	c.2649C>T	c.(2647-2649)ttC>ttT	p.F883F	TTN_ENST00000342992.6_Silent_p.F883F|TTN_ENST00000360870.5_Silent_p.F883F|TTN_ENST00000591111.1_Silent_p.F883F|TTN_ENST00000342175.6_Silent_p.F837F|TTN_ENST00000460472.2_Silent_p.F837F|TTN_ENST00000359218.5_Silent_p.F837F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	883							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)			GTGTGTCAGCGAAGGGGAACT	0.537000													30	45					0	0	0.002836	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713174	70713174	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:70713174C>T	ENST00000530196.1	-	0	1344					NR_003951.1																						ATAAAGATTTCCCCCAATCTT	0.458000													38	36					0	0	0.006999	0	0
SPNS3	201305	broad.mit.edu	37	17	4337383	4337383	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:4337383C>T	ENST00000355530.2	+	1	401	c.121C>T	c.(121-123)Ccg>Tcg	p.P41S	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_5'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	41					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GAGCCTGCCCCCGTGGAGGGC	0.652000													34	30					0	0	0.002522	0	0
SLC25A34	284723	broad.mit.edu	37	1	16064662	16064662	+	Silent	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:16064662T>A	ENST00000294454.5	+	3	600	c.519T>A	c.(517-519)gcT>gcA	p.A173A	SLC25A34_ENST00000489568.1_3'UTR	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	173					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGTGGGGCTGTGCCCCGAG	0.662000													35	2					0	0	0.004878	0	0
LOC440040	440040	broad.mit.edu	37	11	49598031	49598031	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:49598031G>A	ENST00000527477.1	+	0	635																											CCCTGGAAAGGATCAATTCAG	0.537000													7	7					0	0	0.001984	0	0
PHLPP1	23239	broad.mit.edu	37	18	60497326	60497326	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:60497326C>T	ENST00000400316.4	+	2	1880	c.99C>T	c.(97-99)gtC>gtT	p.V33V	PHLPP1_ENST00000262719.5_Silent_p.V545V	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	545	Poly-Ala.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TGTATAATGTCCGTAAAGGCA	0.438000													10	15					0	0	0.000978	0	0
GRIA1	2890	broad.mit.edu	37	5	153030056	153030056	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:153030056C>T	ENST00000285900.5	+	4	970	c.627C>T	c.(625-627)ctC>ctT	p.L209L	GRIA1_ENST00000518142.1_Silent_p.L129L|GRIA1_ENST00000448073.4_Silent_p.L219L|GRIA1_ENST00000518783.1_Silent_p.L219L|GRIA1_ENST00000521843.2_Silent_p.L140L|GRIA1_ENST00000340592.5_Silent_p.L209L|GRIA1_ENST00000518862.1_3'UTR	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	209					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGAACGCCTCAATGCTATCT	0.522000													14	31					0	0	0.003163	0	0
MROH2B	133558	broad.mit.edu	37	5	41000375	41000375	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:41000375C>T	ENST00000399564.4	-	39	4879	c.4429G>A	c.(4429-4431)Gat>Aat	p.D1477N	MROH2B_ENST00000506092.2_Missense_Mutation_p.D1032N	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGATCCTGATCAAGGAGACGG	0.502000													26	37					0	0	0.005443	0	0
TMC2	117532	broad.mit.edu	37	20	2592879	2592879	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:2592879C>T	ENST00000358864.1	+	13	1651	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	546						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCACTGGACTCTGTTTAACTA	0.512000													39	42					0	0	0.008740	0	0
ZBED1	9189	broad.mit.edu	37	X	2408288	2408288	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:2408288G>A	ENST00000381223.4	-	2	676	c.473C>T	c.(472-474)cCc>cTc	p.P158L	ZBED1_ENST00000381218.3_Missense_Mutation_p.P158L|ZBED1_ENST00000381222.2_Missense_Mutation_p.P158L|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	158						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)				CTCATACCGGGGGTCGGCCGT	0.662000													45	56					0	0	0.003610	0	0
TP63	8626	broad.mit.edu	37	3	189526072	189526072	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:189526072G>A	ENST00000264731.3	+	4	425	c.336G>A	c.(334-336)acG>acA	p.T112T	TP63_ENST00000382063.4_Intron|TP63_ENST00000392463.2_Silent_p.T18T|TP63_ENST00000437221.1_Silent_p.T18T|TP63_ENST00000392460.3_Silent_p.T112T|TP63_ENST00000392461.3_Silent_p.T18T|TP63_ENST00000449992.1_Intron|TP63_ENST00000354600.5_Silent_p.T18T|TP63_ENST00000440651.2_Silent_p.T112T|TP63_ENST00000320472.5_Silent_p.T112T|TP63_ENST00000418709.2_Silent_p.T112T|TP63_ENST00000456148.1_Silent_p.T18T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	112					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CACAGTACACGAACCTGGGGC	0.547000										HNSCC(45;0.13)			28	39					0	0	0.002836	0	0
TLR3	7098	broad.mit.edu	37	4	187003870	187003870	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:187003870C>T	ENST00000296795.2	+	4	1134	c.1030C>T	c.(1030-1032)Ccc>Tcc	p.P344S	TLR3_ENST00000504367.1_Missense_Mutation_p.P67S|TLR3_ENST00000508051.1_3'UTR	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	344					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TGCCTCACTCCCCAAGATTGA	0.378000													18	39					0	0	0.007413	0	0
PREX2	80243	broad.mit.edu	37	8	69032465	69032465	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:69032465C>T	ENST00000288368.4	+	29	3816	c.3539C>T	c.(3538-3540)gCt>gTt	p.A1180V		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1180					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAAGGGCAGGCTGTTGTGAGG	0.383000													57	62					0	0	0.003610	0	0
HRG	3273	broad.mit.edu	37	3	186395524	186395524	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:186395524T>G	ENST00000232003.4	+	7	1510	c.1430T>G	c.(1429-1431)tTt>tGt	p.F477C		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	477	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GAGGCCAATTTTCCCAGCTTC	0.502000													37	55					0	0	0.004289	0	0
SLC26A7	115111	broad.mit.edu	37	8	92346639	92346639	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:92346639G>A	ENST00000276609.3	+	6	998	c.759G>A	c.(757-759)agG>agA	p.R253R	SLC26A7_ENST00000523719.1_Silent_p.R253R|SLC26A7_ENST00000309536.2_Silent_p.R253R	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	253						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.R253R(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGTTTAAAAGGAAAATTAAAG	0.363000													20	33					0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179396937	179396937	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179396937T>A	ENST00000589042.1	-	358	104629	c.104405A>T	c.(104404-104406)aAa>aTa	p.K34802I	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K32234I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K33161I|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K25929I|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K25737I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K25862I|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33161							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)			TCGCCTTGATTTCTTTCTAGA	0.413000													14	23					0	0	0.003163	0	0
ZNF157	7712	broad.mit.edu	37	X	47272621	47272621	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:47272621G>A	ENST00000377073.3	+	4	1235	c.1149G>A	c.(1147-1149)gaG>gaA	p.E383E		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	383					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ACACAGGAGAGAAACCTTACG	0.428000													8	9					0	0	0.006214	0	0
DNAH9	1770	broad.mit.edu	37	17	11659961	11659961	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:11659961G>A	ENST00000262442.3	+	34	6883	c.6815G>A	c.(6814-6816)cGc>cAc	p.R2272H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2272H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2272	AAA 2 (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)		AGCCACCTGCGCACAGCCACT	0.547000													66	64					0	0	0.003610	0	0
TNXB	7148	broad.mit.edu	37	6	32015760	32015760	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32015760C>T	ENST00000375244.3	-	30	10276	c.10075G>A	c.(10075-10077)Ggg>Agg	p.G3359R	TNXB_ENST00000375247.2_Missense_Mutation_p.G3357R			P22105	TENX_HUMAN	tenascin XB	3404	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTCAGCTCCCCCAGGCGGGGA	0.612000													128	268					0	0	0.003610	0	0
IGSF10	285313	broad.mit.edu	37	3	151154763	151154763	+	Missense_Mutation	SNP	C	C	T	rs146905174		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:151154763C>T	ENST00000282466.3	-	6	7585	c.7586G>A	c.(7585-7587)cGa>cAa	p.R2529Q	IGSF10_ENST00000495443.1_5'UTR|MED12L_ENST00000474524.1_3'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2529	Ig-like C2-type 12.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.R2529Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTTGTAATTCGGGGAGGGTA	0.478000													45	49					0	0	0.003610	0	0
MAN2B2	23324	broad.mit.edu	37	4	6590804	6590804	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:6590804C>T	ENST00000285599.3	+	5	633	c.597C>T	c.(595-597)tcC>tcT	p.S199S	MAN2B2_ENST00000504248.1_Silent_p.S199S	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	199					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGTCCCCATCCCTCTCAGAGC	0.612000													24	26					0	0	0.009535	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138670	126138670	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:126138670C>T	ENST00000299308.3	+	9	2659	c.2651C>T	c.(2650-2652)cCt>cTt	p.P884L	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P396L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	884						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCCAATAATCCTAGTGACCTC	0.507000													27	34					0	0	0.006320	0	0
XKR9	389668	broad.mit.edu	37	8	71646647	71646647	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:71646647C>T	ENST00000408926.3	+	5	1644	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	XKR9_ENST00000520030.1_Silent_p.F370F|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	370						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGAGATATTTCCTAATGGAAT	0.294000													14	21					0	0	0.004007	0	0
HLA-DRB1	3123	broad.mit.edu	37	6	32549447	32549447	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32549447C>T	ENST00000360004.5	-	3	644	c.539G>A	c.(538-540)gGa>gAa	p.G180E		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GGTCCAGTCTCCATTCTGGAT	0.552000										Multiple Myeloma(14;0.17)			12	143					0	0	0.009718	0	0
FAT2	2196	broad.mit.edu	37	5	150929031	150929031	+	Silent	SNP	G	G	A	rs145042858		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:150929031G>A	ENST00000261800.5	-	8	4626	c.4614C>T	c.(4612-4614)ttC>ttT	p.F1538F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1538	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACCCACACGAAGTTCCTCT	0.537000													16	25					0	0	0.004990	0	0
PTK7	5754	broad.mit.edu	37	6	43111199	43111199	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:43111199C>T	ENST00000230419.4	+	14	2313	c.2092C>T	c.(2092-2094)Ccc>Tcc	p.P698S	PTK7_ENST00000345201.2_Missense_Mutation_p.P658S|PTK7_ENST00000349241.2_Missense_Mutation_p.P568S|PTK7_ENST00000481273.1_Missense_Mutation_p.P706S|PTK7_ENST00000352931.2_Missense_Mutation_p.P642S	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	698					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CAGCCCTCCCCCCTACAAGAT	0.602000											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	79					0	0	0.009535	0	0
VCAN	1462	broad.mit.edu	37	5	82817412	82817412	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:82817412G>A	ENST00000265077.3	+	7	3852	c.3287G>A	c.(3286-3288)gGa>gAa	p.G1096E	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G1048E|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.G1096E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1096	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACTCCAGTTGGAAAAATTGAT	0.438000													11	9					0	0	0.000978	0	0
KCTD14	65987	broad.mit.edu	37	11	77728220	77728220	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:77728220A>G	ENST00000353172.5	-	2	231	c.187T>C	c.(187-189)Ttc>Ctc	p.F63L	KCTD14_ENST00000533144.1_Missense_Mutation_p.F33L|NDUFC2-KCTD14_ENST00000530054.1_3'UTR|NDUFC2-KCTD14_ENST00000528251.1_3'UTR	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	63	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AAGCTAGAGAACATCTCTGCC	0.597000													25	20					0	0	0.006320	0	0
ARMCX3	51566	broad.mit.edu	37	X	100880198	100880198	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:100880198C>T	ENST00000341189.4	+	5	1095	c.229C>T	c.(229-231)Cca>Tca	p.P77S	ARMCX3_ENST00000471229.2_Missense_Mutation_p.P77S|ARMCX3_ENST00000537169.1_Missense_Mutation_p.P77S	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	77						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						AGTATGGTACCCACCTTGGGC	0.572000													60	64					0	0	0.003610	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458398	45458398	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:45458398C>T	ENST00000548424.1	+	0	448																											TACCTGTTTTCCTTTGGCTCC	0.522000													11	14					0	0	0.001368	0	0
UBN2	254048	broad.mit.edu	37	7	138946034	138946034	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:138946034G>A	ENST00000288561.8	+	6	942	c.693G>A	c.(691-693)aaG>aaA	p.K231K	UBN2_ENST00000473989.2_Silent_p.K314K	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	314										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CTGAAAAAAAGAAGAAACGTT	0.353000													17	53					0	0	0.004007	0	0
APOB	338	broad.mit.edu	37	2	21236264	21236264	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:21236264G>A	ENST00000233242.1	-	25	4111	c.3984C>T	c.(3982-3984)ttC>ttT	p.F1328F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1328					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGGCAGATGGAATCCCACAG	0.468000													188	245					0	0	0.003610	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269557	150269557	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:150269557C>T	ENST00000255945.2	+	3	574	c.399C>T	c.(397-399)gcC>gcT	p.A133A	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.A147A	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	133							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCACAAAGCCACAGAGAAGA	0.483000													53	34					0	0	0.003610	0	0
TMCC1	23023	broad.mit.edu	37	3	129389208	129389208	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:129389208G>A	ENST00000393238.3	-	4	1816	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	TMCC1_ENST00000426664.2_Silent_p.S378S|TMCC1_ENST00000329333.5_Silent_p.S313S|TMCC1_ENST00000432054.2_Silent_p.S168S	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	492						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCATTATTAAGGAATAGTCCC	0.433000													50	69					0	0	0.003610	0	0
TIMP4	7079	broad.mit.edu	37	3	12195141	12195141	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:12195141C>T	ENST00000287814.4	-	5	1059	c.549G>A	c.(547-549)ttG>ttA	p.L183L	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	183							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GCTTTCGTTCCAACAGCCAGT	0.537000													187	201					0	0	0.003610	0	0
SLC7A8	23428	broad.mit.edu	37	14	23634518	23634518	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:23634518G>A	ENST00000316902.7	-	3	1209	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	SLC7A8_ENST00000469263.1_Missense_Mutation_p.R162W	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	162					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GCCAGGAGCCGAAGGCCAGAC	0.498000													11	17					0	0	0.000978	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025208	176025208	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:176025208G>A	ENST00000303991.4	-	2	1805	c.1628C>T	c.(1627-1629)gCc>gTc	p.A543V		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	543						growth cone|plasma membrane				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)			GAGGGGCTCGGCCTTCCCTGA	0.637000													16	27					0	0	0.006122	0	0
USP49	25862	broad.mit.edu	37	6	41774027	41774027	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:41774027G>A	ENST00000394253.3	-	3	1024	c.695C>T	c.(694-696)tCa>tTa	p.S232L	USP49_ENST00000373010.1_Missense_Mutation_p.S232L|USP49_ENST00000297229.2_Missense_Mutation_p.S232L|USP49_ENST00000373009.3_Missense_Mutation_p.S232L|USP49_ENST00000373006.1_Missense_Mutation_p.S232L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	232					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CACTCTGCGTGAGGTAGGGAg	0.736000													10	20					0	0	0.006214	0	0
NRAS	4893	broad.mit.edu	37	1	115258681	115258681	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:115258681G>A	ENST00000369535.4	-	2	354	c.101C>T	c.(100-102)cCc>cTc	p.P34L		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	34					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			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)		CTCTATGGTGGGATCATATTC	0.473000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			47	2					0	0	0.003610	0	0
RP1L1	94137	broad.mit.edu	37	8	10467103	10467103	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:10467103C>T	ENST00000382483.3	-	4	4728	c.4505G>A	c.(4504-4506)aGg>aAg	p.R1502K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1502					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGAAGAGCTCCTCTCTGCAGC	0.647000													23	18					0	0	0.002780	0	0
IPO5	3843	broad.mit.edu	37	13	98671974	98671974	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:98671974C>T	ENST00000261574.5	+	27	3210	c.3030C>T	c.(3028-3030)gtC>gtT	p.V1010V	IPO5_ENST00000539640.1_Silent_p.V867V|IPO5_ENST00000490680.1_Silent_p.V992V	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	992					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTGAAGAGGTCCTTCCACACT	0.408000													31	48					0	0	0.002836	0	0
GCSAML	148823	broad.mit.edu	37	1	247737503	247737503	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:247737503C>T	ENST00000366491.2	+	7	664	c.167C>T	c.(166-168)cCc>cTc	p.P56L	GCSAML_ENST00000463359.1_Missense_Mutation_p.P44L|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000536561.1_Missense_Mutation_p.P56L|GCSAML_ENST00000527541.1_Missense_Mutation_p.P44L|GCSAML_ENST00000366489.1_Missense_Mutation_p.P56L|GCSAML_ENST00000366488.4_Missense_Mutation_p.P76L|GCSAML_ENST00000527084.1_Missense_Mutation_p.P44L					germinal center-associated, signaling and motility-like																		AATCACATCCCCCATCAGAGA	0.453000													114	1					0	0	0.003610	0	0
TGM3	7053	broad.mit.edu	37	20	2291059	2291059	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:2291059G>A	ENST00000381458.5	+	3	480	c.417G>A	c.(415-417)ctG>ctA	p.L139L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	139					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACCCCTGGCTGAATGGTAGGT	0.512000													83	83					0	0	0.003610	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751401	26751401	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:26751401C>T	ENST00000396641.2	+	2	830	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	LRRC3B_ENST00000417744.1_Missense_Mutation_p.P80S|LRRC3B_ENST00000456208.2_Missense_Mutation_p.P80S	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	80						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CACATCTATTCCCAATGAAAT	0.403000													17	27					0	0	0.004007	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112015767	112015767	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:112015767C>T	ENST00000374566.3	-	12	1750	c.1233G>A	c.(1231-1233)agG>agA	p.R411R	EPB41L4B_ENST00000374557.4_Silent_p.R411R	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	411						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACTAGGCTTCCTCTCAAAGG	0.398000													60	13					0	0	0.003610	0	0
GNB1L	54584	broad.mit.edu	37	22	19776448	19776448	+	Silent	SNP	G	G	A	rs147234999		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:19776448G>A	ENST00000329517.6	-	8	1004	c.768C>T	c.(766-768)atC>atT	p.I256I	GNB1L_ENST00000403325.1_Silent_p.I256I|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Intron	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	256					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					TGACCTCGGCGATCCCGGGAT	0.642000													31	23					0	0	0.002836	0	0
MCF2	4168	broad.mit.edu	37	X	138708447	138708447	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:138708447C>T	ENST00000520602.1	-	9	1057	c.772G>A	c.(772-774)Gat>Aat	p.D258N	MCF2_ENST00000519895.1_Missense_Mutation_p.D258N|MCF2_ENST00000338585.6_Missense_Mutation_p.D198N|MCF2_ENST00000370576.4_Missense_Mutation_p.D198N|MCF2_ENST00000414978.1_Missense_Mutation_p.D258N|MCF2_ENST00000370573.4_Missense_Mutation_p.D198N|MCF2_ENST00000370578.4_Missense_Mutation_p.D343N|MCF2_ENST00000536274.1_Missense_Mutation_p.D159N			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	198					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.D198N(1)|p.D258N(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GTTTCCATATCATGTACTTGA	0.348000													31	92					0	0	0.003755	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534707	16534707	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:16534707C>T	ENST00000270747.3	-	3	562	c.426G>A	c.(424-426)cgG>cgA	p.R142R	ARHGEF19_ENST00000421561.1_Silent_p.R142R	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	142					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGTACACCCGCATCTTGC	0.682000													20	0					0	0	0.001882	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733361	106733361	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:106733361C>T	ENST00000390610.2	-	0	193																											GAGGGTGTATCCGGAAACCTT	0.562000													67	81					0	0	0.003610	0	0
FGF9	2254	broad.mit.edu	37	13	22275471	22275471	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:22275471G>A	ENST00000382353.5	+	3	1054	c.524G>A	c.(523-525)gGg>gAg	p.G175E	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	175					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding	p.G175E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		CCGAGAGAAGGGACTAGGACT	0.418000													26	24					0	0	0.004656	0	0
CLK2	1196	broad.mit.edu	37	1	155239408	155239408	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:155239408G>A	ENST00000368361.4	-	3	585	c.270C>T	c.(268-270)taC>taT	p.Y90Y	CLK2_ENST00000361168.5_Silent_p.Y90Y|CLK2_ENST00000536801.1_Silent_p.Y90Y|CLK2_ENST00000355560.4_Silent_p.Y89Y			P49760	CLK2_HUMAN	CDC-like kinase 2	90						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGTGTCATAGTAGGCATCTC	0.572000								Other conserved DNA damage response genes					261	9					0	0	0.003610	0	0
CCDC180	100499483	broad.mit.edu	37	9	100092936	100092936	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:100092936G>A	ENST00000375202.2	+	32	3645	c.2293G>A	c.(2293-2295)Gag>Aag	p.E765K	CCDC180_ENST00000411667.2_Missense_Mutation_p.E762K|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.E904K|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.E765K					coiled-coil domain containing 180																		AGAAAagaaggaggagtcaga	0.502000													6	1					0	0	0.001984	0	0
CUL9	23113	broad.mit.edu	37	6	43184184	43184184	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:43184184C>A	ENST00000252050.4	+	31	6309	c.6225C>A	c.(6223-6225)agC>agA	p.S2075R	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.S2047R|CUL9_ENST00000354495.3_Missense_Mutation_p.S1965R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2075					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCTGTGTGAGCCCCCTGGGGT	0.642000													33	138					5.71845e-15	1.00958e-14	0.005524	1	0
DYTN	391475	broad.mit.edu	37	2	207527702	207527702	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:207527702C>T	ENST00000452335.2	-	11	1674	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	520						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCCAGCTCATCCTTTCTCTCC	0.458000													76	86					0	0	0.003610	0	0
EIF5A2	56648	broad.mit.edu	37	3	170625451	170625451	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:170625451C>G	ENST00000295822.2	-	2	330	c.145G>C	c.(145-147)Gga>Cga	p.G49R	EIF5A2_ENST00000474096.1_Missense_Mutation_p.G49R|EIF5A2_ENST00000460117.1_Intron|EIF5A2_ENST00000487522.1_Missense_Mutation_p.G49R	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2	49					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			CCATGCTTTCCAGTTTTGGAA	0.478000													72	77					0	0	0.003610	0	0
OR10G2	26534	broad.mit.edu	37	14	22102815	22102815	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:22102815G>A	ENST00000542433.1	-	1	281	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TACATGGGGCGAGCACAGAGC	0.512000													34	21					0	0	0.003755	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147023	55147023	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:55147023G>A	ENST00000370862.3	+	7	1442	c.1105_splice	c.e7-1	p.G369_splice		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	369					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGTTTGCCAGGAAAATTTCGA	0.438000													7	9					0	0	0.004482	0	0
ZNF473	25888	broad.mit.edu	37	19	50548183	50548183	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:50548183C>T	ENST00000595661.1	+	6	978	c.483C>T	c.(481-483)acC>acT	p.T161T	ZNF473_ENST00000445728.3_Silent_p.T149T|ZNF473_ENST00000391821.2_Silent_p.T161T|ZNF473_ENST00000270617.3_Silent_p.T161T|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	161					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	p.T161T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CTGTGTCCACCGTTTCCACGG	0.468000													28	32					0	0	0.006320	0	0
PTH2R	5746	broad.mit.edu	37	2	209302345	209302345	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:209302345C>T	ENST00000272847.2	+	3	475	c.262C>T	c.(262-264)Cct>Tct	p.P88S	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	88						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCCATGCCCTCCTTATATTTA	0.323000													18	25					0	0	0.010504	0	0
ALOX12	239	broad.mit.edu	37	17	6902131	6902131	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:6902131G>A	ENST00000251535.6	+	4	570	c.517G>A	c.(517-519)Gac>Aac	p.D173N	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	173	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GAAGAGGCTGGACTTTGAATG	0.522000													12	25					0	0	0.003163	0	0
OR51B6	390058	broad.mit.edu	37	11	5372815	5372815	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5372815C>T	ENST00000380219.1	+	1	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGGATATTCATCCCATTAT	0.468000													31	21					0	0	0.002445	0	0
FAM83B	222584	broad.mit.edu	37	6	54791187	54791187	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:54791187G>A	ENST00000306858.7	+	3	579	c.463G>A	c.(463-465)Gat>Aat	p.D155N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	155										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTAGTGATGGATATATTTAC	0.308000													23	34					0	0	0.006320	0	0
ZNF527	84503	broad.mit.edu	37	19	37870132	37870132	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:37870132G>C	ENST00000436120.2	+	3	251	c.144G>C	c.(142-144)agG>agC	p.R48S	ZNF527_ENST00000587349.1_Missense_Mutation_p.R48S|ZNF527_ENST00000589615.1_3'UTR|ZNF527_ENST00000483919.1_Missense_Mutation_p.R48S	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAACTACAGGAACTTGGTAT	0.428000													35	46					0	0	0.003610	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111474	7111474	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:7111474G>A	ENST00000306904.5	+	1	1310	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	375	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTGCCCAGGGGCGGAGGCCG	0.607000													4	4					0	0	0.000602	0	0
CUX2	23316	broad.mit.edu	37	12	111748213	111748213	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:111748213G>A	ENST00000261726.6	+	15	1781	c.1627G>A	c.(1627-1629)Gcg>Acg	p.A543T		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	543						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGGGGGCGGAGCGGCGGGGCC	0.706000													5	8					0	0	0.001984	0	0
CDH7	1005	broad.mit.edu	37	18	63481762	63481762	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:63481762C>T	ENST00000536984.2	+	4	1241	c.547C>T	c.(547-549)Cct>Tct	p.P183S	CDH7_ENST00000397968.2_Missense_Mutation_p.P183S|CDH7_ENST00000323011.3_Missense_Mutation_p.P183S			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	183	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGCTGATGATCCTACATATGG	0.428000													39	53					0	0	0.002852	0	0
ALPK2	115701	broad.mit.edu	37	18	56191279	56191279	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:56191279G>A	ENST00000361673.3	-	7	5730	c.5517C>T	c.(5515-5517)tcC>tcT	p.S1839S		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1839	Ig-like 2.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGGAAACAGTGGAGTTGTCCC	0.428000													26	19					0	0	0.006320	0	0
MARS2	92935	broad.mit.edu	37	2	198570890	198570890	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:198570890C>T	ENST00000282276.6	+	1	804	c.761C>T	c.(760-762)tCc>tTc	p.S254F	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	254					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CCCGACCTGTCCGTGTCTCGC	0.607000													24	28					0	0	0.005443	0	0
CNGA4	1262	broad.mit.edu	37	11	6261362	6261362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:6261362G>A	ENST00000379936.2	+	4	453	c.338G>A	c.(337-339)tGg>tAg	p.W113*	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	113					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTCGCACCTGGAGTTTCTTC	0.617000													51	75					0	0	0.003610	0	0
SCN11A	11280	broad.mit.edu	37	3	38921480	38921480	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:38921480G>A	ENST00000450244.1	-	19	3552	c.3354C>T	c.(3352-3354)ttC>ttT	p.F1118F	SCN11A_ENST00000302328.3_Silent_p.F1118F|SCN11A_ENST00000456224.3_Silent_p.F1080F|SCN11A_ENST00000444237.2_Silent_p.F1118F			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1118					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGGCACTGGTGAAATACTTTC	0.393000													9	14					0	0	0.000978	0	0
LRP2	4036	broad.mit.edu	37	2	170150722	170150722	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:170150722G>A	ENST00000263816.3	-	6	873	c.588C>T	c.(586-588)atC>atT	p.I196I	LRP2_ENST00000443831.1_Silent_p.I196I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	196	LDL-receptor class A 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGCACGAGGGATACACTCTC	0.438000													48	55					0	0	0.003610	0	0
GRM6	2916	broad.mit.edu	37	5	178410150	178410150	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:178410150C>T	ENST00000231188.5	-	9	2375	c.2197G>A	c.(2197-2199)Gtg>Atg	p.V733M	GRM6_ENST00000517717.1_Missense_Mutation_p.V733M|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	733					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)		TCGGGGTCCACCGTCCGCTGT	0.627000													25	11					0	0	0.006320	0	0
FAM50B	26240	broad.mit.edu	37	6	3850681	3850681	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:3850681C>T	ENST00000380274.1	+	1	1062	c.636C>T	c.(634-636)ttC>ttT	p.F212F	FAM50B_ENST00000380272.3_Silent_p.F212F			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	212						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TGCAGCAGTTCCTGAAGAAGG	0.652000													18	44					0	0	0.007413	0	0
TMC2	117532	broad.mit.edu	37	20	2559842	2559842	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:2559842C>T	ENST00000358864.1	+	6	711	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	232	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTCAATGTATCCCCTGGGAAA	0.368000													16	14					0	0	0.004007	0	0
MYLK4	340156	broad.mit.edu	37	6	2679665	2679665	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:2679665G>A	ENST00000268446.5	-	8	1032	c.736C>T	c.(736-738)Cca>Tca	p.P246S	MYLK4_ENST00000274643.7_Intron			Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	247	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AGACAAAGTGGAAGGATGGAC	0.403000													144	89					0	0	0.003610	0	0
CILP2	148113	broad.mit.edu	37	19	19655605	19655605	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:19655605C>T	ENST00000586018.1	+	8	2371	c.2269C>T	c.(2269-2271)Ccc>Tcc	p.P757S	CILP2_ENST00000291495.4_Missense_Mutation_p.P751S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	751						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CAAGTTCACCCCCAGCGAGCA	0.687000													5	14					0	0	0.001168	0	0
OR51G1	79324	broad.mit.edu	37	11	4944777	4944777	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:4944777G>A	ENST00000321961.2	-	1	860	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R265C(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCACCAAAGCGATGCACAAGA	0.517000													34	46					0	0	0.003271	0	0
PLEK	5341	broad.mit.edu	37	2	68621295	68621295	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:68621295G>A	ENST00000234313.7	+	8	1082	c.903G>A	c.(901-903)gaG>gaA	p.E301E		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	301	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CTTCAGTGGAGAGCAACTCAA	0.468000													36	47					0	0	0.006230	0	0
GRB10	2887	broad.mit.edu	37	7	50671703	50671703	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:50671703G>A	ENST00000403097.1	-	16	2298	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	GRB10_ENST00000398812.2_Silent_p.L512L|GRB10_ENST00000357271.5_Silent_p.L466L|GRB10_ENST00000406641.1_Silent_p.L454L|GRB10_ENST00000402578.1_Silent_p.L454L|GRB10_ENST00000401949.1_Silent_p.L512L|GRB10_ENST00000398810.2_Silent_p.L454L|GRB10_ENST00000439599.1_Silent_p.L506L|GRB10_ENST00000407526.1_Silent_p.L454L|GRB10_ENST00000402497.1_Silent_p.L454L|GRB10_ENST00000335866.3_Silent_p.L454L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	512	SH2.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ACCCATCCACGAGCCCTTGCT	0.507000									Russell-Silver syndrome				137	92					0	0	0.003610	0	0
C8orf74	203076	broad.mit.edu	37	8	10557840	10557840	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:10557840G>A	ENST00000304519.5	+	4	773	c.744G>A	c.(742-744)ttG>ttA	p.L248L	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	248										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TCGCCATCTTGGACCTGAAGC	0.617000													38	39					0	0	0.005524	0	0
WDR49	151790	broad.mit.edu	37	3	167217983	167217983	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:167217983C>T	ENST00000308378.3	-	14	2238	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	WDR49_ENST00000476376.1_Missense_Mutation_p.E470K|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.E610K	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	645										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GGACGCTCTTCCTCTGGTTCT	0.423000													97	113					0	0	0.003610	0	0
CC2D2A	57545	broad.mit.edu	37	4	15518298	15518298	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:15518298C>T	ENST00000424120.1	+	11	1322	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P	CC2D2A_ENST00000503292.1_Silent_p.P356P|CC2D2A_ENST00000389652.5_Silent_p.P307P|CC2D2A_ENST00000413206.1_Silent_p.P356P|CC2D2A_ENST00000513811.1_3'UTR			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	356					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TGCCAAACCCCATCAAGCCAT	0.468000													9	22					0	0	0.004482	0	0
SCN3A	6328	broad.mit.edu	37	2	166011151	166011151	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:166011151C>T	ENST00000360093.3	-	11	1682	c.1191G>A	c.(1189-1191)ggG>ggA	p.G397G	SCN3A_ENST00000409101.3_Silent_p.G397G|SCN3A_ENST00000283254.7_Silent_p.G397G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	397						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGTATGTTTTCCCAGCAGCAC	0.398000													24	31					0	0	0.006320	0	0
KMT2B	9757	broad.mit.edu	37	19	36211154	36211154	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:36211154C>T	ENST00000420124.1	+	3	905	c.905C>T	c.(904-906)cCc>cTc	p.P302L	WBP7_ENST00000341701.1_Missense_Mutation_p.P302L|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.P302L																							GGTGGGCTCCCCTTTGTGATC	0.587000													10	12					0	0	0.008291	0	0
WDR11	55717	broad.mit.edu	37	10	122665480	122665480	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:122665480C>T	ENST00000263461.6	+	27	3630	c.3384C>T	c.(3382-3384)ctC>ctT	p.L1128L	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	1128						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CAAAGGCTCTCCTGGTTCTCC	0.522000													41	38					0	0	0.003610	0	0
C8B	732	broad.mit.edu	37	1	57397551	57397551	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:57397551C>T	ENST00000543257.1	-	12	1963	c.1396_splice	c.e12-1	p.G466_splice	C8B_ENST00000371237.4_Splice_Site_p.G518_splice|C8B_ENST00000535057.1_Splice_Site_p.G456_splice	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	518	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.G518E(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAGCGTGATCCTGAGAAGAC	0.502000													32	3					0	0	0.004878	0	0
LOC645752	645752	broad.mit.edu	37	15	78219158	78219158	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:78219158G>A	ENST00000567226.1	-	0	30																											AGGTAGGGTTGGGGCCACATC	0.527000													11	34					0	0	0.001855	0	0
FAM135B	51059	broad.mit.edu	37	8	139164633	139164633	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:139164633G>A	ENST00000395297.1	-	13	2255	c.2085C>T	c.(2083-2085)gtC>gtT	p.V695V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	695										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGACCAGGCGACGGAGCTTG	0.552000										HNSCC(54;0.14)			20	30					0	0	0.007413	0	0
TENM4	26011	broad.mit.edu	37	11	78380168	78380168	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:78380168C>T	ENST00000278550.7	-	32	7684	c.7222G>A	c.(7222-7224)Gat>Aat	p.D2408N		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GTGAGTGGATCATAGAGGCCA	0.517000													8	12					0	0	0.003080	0	0
ITGB8	3696	broad.mit.edu	37	7	20441498	20441498	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:20441498G>A	ENST00000222573.3	+	10	2120	c.1436G>A	c.(1435-1437)gGa>gAa	p.G479E	ITGB8_ENST00000537992.1_Missense_Mutation_p.G344E	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	479	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GGACCTAAAGGAAAGTGTGTA	0.358000													69	98					0	0	0.003610	0	0
RGN	9104	broad.mit.edu	37	X	46949287	46949287	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:46949287C>T	ENST00000397180.1	+	5	1428	c.459C>T	c.(457-459)tcC>tcT	p.S153S	RGN_ENST00000352078.4_Silent_p.S153S|RGN_ENST00000336169.3_Silent_p.S153S|RGN_ENST00000457380.1_Intron	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	153					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						TGGACATTTCCAATGGTTTGG	0.498000													37	39					0	0	0.007835	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389491	150389491	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:150389491G>A	ENST00000223293.5	+	3	211	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	39						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCTGCAGGGAACAGCATCC	0.512000													26	18					0	0	0.005443	0	0
CA4	762	broad.mit.edu	37	17	58235480	58235480	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:58235480C>T	ENST00000300900.4	+	6	671	c.572C>T	c.(571-573)cCc>cTc	p.P191L		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	191					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TCTAATATCCCCAAACCTGGT	0.612000													11	12					0	0	0.003163	0	0
NBAS	51594	broad.mit.edu	37	2	15519910	15519910	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:15519910G>A	ENST00000281513.5	-	30	3431	c.3406C>T	c.(3406-3408)Cac>Tac	p.H1136Y	NBAS_ENST00000441750.1_Missense_Mutation_p.H1016Y	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1136										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCAGCCAGGTGGATGTTTTCA	0.448000													42	57					0	0	0.003214	0	0
BSPRY	54836	broad.mit.edu	37	9	116132363	116132363	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:116132363C>T	ENST00000374183.4	+	6	1189	c.1150C>T	c.(1150-1152)Ccg>Tcg	p.P384S	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	384	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGTGTCCTTCCCGGGGCCCCT	0.617000													30	3					0	0	0.005524	0	0
NBEAL2	23218	broad.mit.edu	37	3	47049159	47049159	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:47049159G>A	ENST00000450053.3	+	48	7658	c.7479G>A	c.(7477-7479)aaG>aaA	p.K2493K	NBEAL2_ENST00000383740.2_Silent_p.K742K|NBEAL2_ENST00000292309.5_Silent_p.K2309K	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2493							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCGTGGCAAGCTGTTGAGCC	0.627000													7	7					0	0	0.001984	0	0
LOR	4014	broad.mit.edu	37	1	153234258	153234258	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:153234258G>A	ENST00000368742.3	+	2	890	c.833G>A	c.(832-834)gGa>gAa	p.G278E		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	278					keratinization|peptide cross-linking	cornified envelope|cytoplasm|insoluble fraction|nucleoplasm	protein binding, bridging|structural constituent of cytoskeleton			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTTCCTCTGGAGGCGGCGGC	0.746000													30	2					0	0	0.007291	0	0
MTTP	4547	broad.mit.edu	37	4	100529971	100529971	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:100529971G>A	ENST00000457717.1	+	13	1862	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	MTTP_ENST00000511045.1_Missense_Mutation_p.E563K|MTTP_ENST00000265517.5_Missense_Mutation_p.E536K|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	536	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TAAAGTTCATGAAAAGACTGT	0.398000													24	49					0	0	0.002780	0	0
MERTK	10461	broad.mit.edu	37	2	112777019	112777019	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:112777019C>T	ENST00000295408.4	+	16	2366	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F	MERTK_ENST00000409780.1_Silent_p.F527F|MERTK_ENST00000421804.2_Silent_p.F703F			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	703	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TATTGAAGTTCATGGTGGATA	0.423000													80	73					0	0	0.003610	0	0
GPR155	151556	broad.mit.edu	37	2	175326182	175326182	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:175326182C>T	ENST00000392552.2	-	9	1746	c.1508G>A	c.(1507-1509)gGa>gAa	p.G503E	GPR155_ENST00000295500.4_Missense_Mutation_p.G503E|GPR155_ENST00000392551.2_Missense_Mutation_p.G503E	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	503					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATTGTGTTTTCCAGTTATCAA	0.373000													63	57					0	0	0.003610	0	0
GRM8	2918	broad.mit.edu	37	7	126086241	126086241	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:126086241T>G	ENST00000339582.2	-	10	3424	c.2616A>C	c.(2614-2616)aaA>aaC	p.K872N	GRM8_ENST00000358373.3_Missense_Mutation_p.K872N|GRM8_ENST00000444921.2_Missense_Mutation_p.K872N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	872					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGTCATTTCCTTTTTGGATCA	0.428000										HNSCC(24;0.065)			64	119					0	0	0.003610	0	0
AFF2	2334	broad.mit.edu	37	X	148044272	148044272	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:148044272A>C	ENST00000370460.2	+	13	3197	c.2718A>C	c.(2716-2718)agA>agC	p.R906S	AFF2_ENST00000370457.5_Missense_Mutation_p.R873S|AFF2_ENST00000342251.3_Missense_Mutation_p.R873S|AFF2_ENST00000286437.5_Missense_Mutation_p.R547S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	906					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCAAATAGAAGAAAGGAAG	0.433000													28	15					0	0	0.007291	0	0
PXDNL	137902	broad.mit.edu	37	8	52284457	52284457	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:52284457G>A	ENST00000356297.4	-	19	3977	c.3877C>T	c.(3877-3879)Cga>Tga	p.R1293*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.R1293*	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1293					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGCCACACTCGCAGGTCCACC	0.473000													10	17					0	0	0.008291	0	0
FAM135B	51059	broad.mit.edu	37	8	139190910	139190910	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:139190910G>A	ENST00000395297.1	-	10	1067	c.897C>T	c.(895-897)atC>atT	p.I299I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	299										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTGCTCAGCGATCTTCTCTG	0.502000										HNSCC(54;0.14)			7	28					0	0	0.006214	0	0
CLVS1	157807	broad.mit.edu	37	8	62289259	62289259	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:62289259T>A	ENST00000519846.1	+	4	1023	c.551T>A	c.(550-552)aTa>aAa	p.I184K	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.I184K			Q8IUQ0	CLVS1_HUMAN	clavesin 1	184	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATTTTAATTATAGACTGGAGT	0.428000													36	30					0	0	0.004878	0	0
ARMC4	55130	broad.mit.edu	37	10	28284003	28284003	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:28284003G>A	ENST00000305242.5	-	2	161	c.69C>T	c.(67-69)atC>atT	p.I23I		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	23							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTAGAGGGGTGATTTCGAGGA	0.448000													14	32					0	0	0.006122	0	0
PRKCQ	5588	broad.mit.edu	37	10	6527122	6527122	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:6527122C>T	ENST00000263125.5	-	10	1109	c.1010G>A	c.(1009-1011)gGa>gAa	p.G337E	PRKCQ_ENST00000397176.2_Missense_Mutation_p.G337E|PRKCQ_ENST00000539722.1_Missense_Mutation_p.G212E	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	337					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ACCTCTTTTTCCCGGTGTCGG	0.433000													86	90					0	0	0.003610	0	0
ZNF273	10793	broad.mit.edu	37	7	64389038	64389038	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:64389038C>T	ENST00000476120.1	+	4	1403	c.1332C>T	c.(1330-1332)acC>acT	p.T444T	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Silent_p.T379T	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TATTCTCAACCCTTACTAAAC	0.348000													23	50					0	0	0.002780	0	0
ALOX12B	242	broad.mit.edu	37	17	7984452	7984452	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:7984452C>T	ENST00000319144.4	-	3	666	c.406G>A	c.(406-408)Gag>Aag	p.E136K	AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	136	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.E136delE(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCTCTGATCTCCTCTTTTCTG	0.632000										Multiple Myeloma(8;0.094)			9	23					0	0	0.001368	0	0
ACTA1	58	broad.mit.edu	37	1	229567636	229567636	+	Silent	SNP	C	C	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:229567636C>A	ENST00000366684.3	-	6	924	c.822G>T	c.(820-822)gcG>gcT	p.A274A	ACTA1_ENST00000366683.2_Silent_p.A186A	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	274			A -> E (in NEM3).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	CGTGAATGCCCGCCGACTCCA	0.682000													6	135					0.00116845	0.00205073	0.001168	1	0
TAP2	6891	broad.mit.edu	37	6	32782215	32782215	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32782215C>T	ENST00000452392.2	-	14	2519	c.2346G>A	c.(2344-2346)agG>agA	p.R782R	HLA-DOB_ENST00000438763.2_Silent_p.R175R			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										AGTCTCCATTCCTGATAGGGC	0.527000													39	100					0	0	0.009718	0	0
MYO16	23026	broad.mit.edu	37	13	109672187	109672187	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:109672187G>A	ENST00000356711.2	+	23	2784	c.2658G>A	c.(2656-2658)atG>atA	p.M886I	MYO16_ENST00000251041.5_Missense_Mutation_p.M886I|MYO16_ENST00000457511.2_Missense_Mutation_p.M398I|MYO16_ENST00000357550.2_Missense_Mutation_p.M886I	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	886	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACTCCCCCATGAAGGATGGGA	0.433000													26	47					0	0	0.006320	0	0
KLHL18	23276	broad.mit.edu	37	3	47385374	47385374	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:47385374C>T	ENST00000232766.5	+	10	1688	c.1668C>T	c.(1666-1668)ccC>ccT	p.P556P	KLHL18_ENST00000455924.2_Silent_p.P444P	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	556										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCATGGCCCCCATGGCGTGCC	0.597000													54	56					0	0	0.003610	0	0
PPP1R18	170954	broad.mit.edu	37	6	30652369	30652369	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:30652369G>A	ENST00000274853.3	-	1	3303	c.1427C>T	c.(1426-1428)cCc>cTc	p.P476L	PPP1R18_ENST00000399199.3_Missense_Mutation_p.P476L|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	476						cytoplasm|cytoskeleton	actin binding										AGACCGCCGGGGGTTGACGGT	0.692000													11	6					0	0	0.001368	0	0
RELN	5649	broad.mit.edu	37	7	103270545	103270545	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:103270545G>A	ENST00000424685.2	-	20	2703	c.2544C>T	c.(2542-2544)tcC>tcT	p.S848S	RELN_ENST00000428762.1_Silent_p.S848S|RELN_ENST00000343529.5_Silent_p.S848S			P78509	RELN_HUMAN	reelin	848					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTCTCTCTGGGAAGAATGAT	0.393000													41	78					0	0	0.008740	0	0
CUBN	8029	broad.mit.edu	37	10	16882450	16882450	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:16882450G>A	ENST00000377833.4	-	62	9976	c.9911C>T	c.(9910-9912)tCc>tTc	p.S3304F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3304	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTACAGATGGAAAATGGGAC	0.473000													14	18					0	0	0.001855	0	0
ELN	2006	broad.mit.edu	37	7	73474738	73474738	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:73474738G>A	ENST00000252034.7	+	25	2053	c.1654G>A	c.(1654-1656)Gga>Aga	p.G552R	ELN_ENST00000458204.1_Missense_Mutation_p.G542R|ELN_ENST00000320399.6_Missense_Mutation_p.G552R|ELN_ENST00000320492.7_Missense_Mutation_p.G471R|ELN_ENST00000380575.4_Missense_Mutation_p.G523R|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380584.4_Missense_Mutation_p.G504R|ELN_ENST00000380553.4_Missense_Mutation_p.G416R|ELN_ENST00000445912.1_Missense_Mutation_p.G552R|ELN_ENST00000358929.4_Missense_Mutation_p.G587R|ELN_ENST00000357036.5_Missense_Mutation_p.G557R|ELN_ENST00000414324.1_Missense_Mutation_p.G528R|ELN_ENST00000380562.4_Missense_Mutation_p.G558R|ELN_ENST00000380576.5_Missense_Mutation_p.G533R|ELN_ENST00000429192.1_Missense_Mutation_p.G538R	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	581	Ala-rich.				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)	TGGCATCCCTGGACTTGGAGT	0.632000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						27	65					0	0	0.006320	0	0
SALL3	27164	broad.mit.edu	37	18	76752241	76752241	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:76752241G>A	ENST00000575389.2	+	2	250	c.250G>A	c.(250-252)Gag>Aag	p.E84K	SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000537592.2_Missense_Mutation_p.E84K			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GATCGTGCACGAGGACGCGCC	0.721000													9	9					0	0	0.008291	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722348	58722348	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:58722348A>G	ENST00000300079.5	+	5	435	c.385A>G	c.(385-387)Aaa>Gaa	p.K129E	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.K98E	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	98						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CGTAAACTGGAAACAGAGACT	0.398000													6	14					0	0	0.003080	0	0
ZNF600	162966	broad.mit.edu	37	19	53269487	53269487	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:53269487G>A	ENST00000338230.3	-	3	1789	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	508				R -> H (in Ref. 1; BAD18414).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R508C(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GACCTCAGACGGAAGGTCTTG	0.443000													79	91					0	0	0.003610	0	0
TAB2	23118	broad.mit.edu	37	6	149699485	149699485	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:149699485C>T	ENST00000367456.1	+	4	1011	c.434C>T	c.(433-435)tCc>tTc	p.S145F	TAB2_ENST00000536230.1_Missense_Mutation_p.S113F|TAB2_ENST00000392282.1_Missense_Mutation_p.S145F|TAB2_ENST00000538427.1_Missense_Mutation_p.S145F|TAB2_ENST00000286332.5_Missense_Mutation_p.S145F			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	145					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ATGTCCAGTTCCTCTGGTGCT	0.443000													31	4					0	0	0.002096	0	0
ZFX	7543	broad.mit.edu	37	X	24226484	24226484	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:24226484T>C	ENST00000379177.1	+	9	1517	c.1090T>C	c.(1090-1092)Tat>Cat	p.Y364H	ZFX_ENST00000338565.3_Missense_Mutation_p.Y314H|ZFX_ENST00000304543.5_Missense_Mutation_p.Y364H|ZFX_ENST00000379188.3_Missense_Mutation_p.Y364H|ZFX_ENST00000540034.1_Missense_Mutation_p.Y403H|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Missense_Mutation_p.Y135H	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GGCAGCAGCTTATGGTAAGTT	0.483000													28	41					0	0	0.008361	0	0
PPAPDC2	403313	broad.mit.edu	37	9	4663160	4663160	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:4663160C>T	ENST00000381883.2	+	1	863	c.785C>T	c.(784-786)gCt>gTt	p.A262V	SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000381895.5_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	262						integral to membrane	hydrolase activity			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		ACCGACGTAGCTTTTGGCTTT	0.552000													35	42					0	0	0.003271	0	0
CXCR2	3579	broad.mit.edu	37	2	219000488	219000488	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:219000488C>T	ENST00000318507.2	+	3	1391	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	322					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCAGAAGTTTCGCCATGGACT	0.547000													37	58					0	0	0.007835	0	0
BAAT	570	broad.mit.edu	37	9	104133497	104133497	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:104133497A>G	ENST00000259407.2	-	2	298	c.190T>C	c.(190-192)Tct>Cct	p.S64P	BAAT_ENST00000395051.3_Missense_Mutation_p.S64P	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	64					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CCAAGTGAAGAAGCATGATTC	0.443000													39	6					0	0	0.007835	0	0
GFOD1	54438	broad.mit.edu	37	6	13365137	13365137	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:13365137G>A	ENST00000379287.3	-	2	1675	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	GFOD1_ENST00000379284.1_Silent_p.F234F	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	337						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGCAGTCGTCGAAGGTGGCGG	0.657000													19	39					0	0	0.002299	0	0
C10orf10	11067	broad.mit.edu	37	10	45473304	45473304	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:45473304C>T	ENST00000298295.3	-	2	392	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000340258.4_Intron|C10orf10_ENST00000496638.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	59						mitochondrion				lung(1)	1						TGGCCCTGGGCCGTGGCCTTG	0.667000													12	20					0	0	0.001368	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756472	56756472	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:56756472C>T	ENST00000326855.2	+	1	126	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTATCCTCTTCATTGTATTCC	0.393000													41	66					0	0	0.008740	0	0
GUCY2F	2986	broad.mit.edu	37	X	108631727	108631727	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:108631727G>A	ENST00000218006.2	-	15	3238	c.2947C>T	c.(2947-2949)Ctt>Ttt	p.L983F		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	983	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCTGAGTGAAGGCCAATTCGA	0.453000													78	101					0	0	0.003610	0	0
PLCB4	5332	broad.mit.edu	37	20	9343600	9343600	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:9343600C>T	ENST00000378501.2	+	5	442	c.427C>T	c.(427-429)Cca>Tca	p.P143S	PLCB4_ENST00000334005.3_Missense_Mutation_p.P143S|PLCB4_ENST00000378473.3_Missense_Mutation_p.P143S|PLCB4_ENST00000278655.4_Missense_Mutation_p.P143S|PLCB4_ENST00000414679.2_Missense_Mutation_p.P143S|PLCB4_ENST00000378493.1_Missense_Mutation_p.P143S|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	143					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAACGTCAGTCCAATGACATG	0.418000													13	13					0	0	0.006122	0	0
RAI2	10742	broad.mit.edu	37	X	17819275	17819275	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:17819275C>T	ENST00000545871.1	-	3	1316	c.856G>A	c.(856-858)Gat>Aat	p.D286N	RAI2_ENST00000451717.1_Missense_Mutation_p.D286N|RAI2_ENST00000415486.3_Missense_Mutation_p.D236N|RAI2_ENST00000360011.1_Missense_Mutation_p.D286N|RAI2_ENST00000331511.1_Missense_Mutation_p.D286N	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	286					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TTCAGTTCATCTTTTTCCAGA	0.537000													88	85					0	0	0.003610	0	0
MCMBP	79892	broad.mit.edu	37	10	121618633	121618633	+	Missense_Mutation	SNP	G	G	A	rs139316442		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:121618633G>A	ENST00000360003.3	-	3	374	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.R69C	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	69					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						ATCATGCAACGAAATTTCACA	0.343000													26	27					0	0	0.003330	0	0
SUMO2	6613	broad.mit.edu	37	17	73170892	73170892	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:73170892G>A	ENST00000420826.2	-	3	328	c.180C>T	c.(178-180)ttC>ttT	p.F60F	SUMO2_ENST00000578238.1_Silent_p.F17F|SUMO2_ENST00000314523.7_Intron	NM_006937.3	NP_008868.3	P61956	SUMO2_HUMAN	small ubiquitin-like modifier 2	60	Ubiquitin-like.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding			NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CGTCAAATCGGAATCTGATCT	0.338000													16	14					0	0	0.001882	0	0
ZNF101	94039	broad.mit.edu	37	19	19790253	19790253	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:19790253C>T	ENST00000592502.1	+	4	565	c.455C>T	c.(454-456)tCc>tTc	p.S152F	ZNF101_ENST00000415784.2_Missense_Mutation_p.S32F|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GCCTCCATTTCCCCCAGTAGT	0.493000													35	61					0	0	0.006230	0	0
ADAM18	8749	broad.mit.edu	37	8	39496010	39496010	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:39496010G>A	ENST00000265707.5	+	10	899	c.854G>A	c.(853-855)gGa>gAa	p.G285E	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G261E	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	285	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AAATATGTGGGAGCAACATTT	0.289000													13	15					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179413538	179413538	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179413538C>T	ENST00000589042.1	-	339	93039	c.92815G>A	c.(92815-92817)Gct>Act	p.A30939T	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A28371T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A29298T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A22066T|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A21874T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21999T|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29298	Fibronectin type-III 125.						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)			CTGGCCCCAGCTCTAACAACA	0.478000													34	27					0	0	0.002836	0	0
PPIG	9360	broad.mit.edu	37	2	170460756	170460756	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:170460756C>T	ENST00000260970.3	+	4	341	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	PPIG_ENST00000448752.2_Missense_Mutation_p.R41C|PPIG_ENST00000409714.3_Missense_Mutation_p.R41C|PPIG_ENST00000462903.1_Missense_Mutation_p.R41C	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	41	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CGAGAACTTTCGTTGTCTTTG	0.343000													49	59					0	0	0.003610	0	0
PYDC2	152138	broad.mit.edu	37	3	191179053	191179053	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:191179053C>T	ENST00000518817.1	+	1	102	c.102C>T	c.(100-102)tcC>tcT	p.S34S		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	34	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						GAACAATCTCCCTGGGAAAGG	0.532000													39	69					0	0	0.006999	0	0
TAF8	129685	broad.mit.edu	37	6	42036228	42036228	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:42036228C>T	ENST00000372977.3	+	7	681	c.663C>T	c.(661-663)atC>atT	p.I221I	TAF8_ENST00000465926.1_Intron|TAF8_ENST00000494547.1_Silent_p.I221I|TAF8_ENST00000372982.4_Silent_p.I221I|TAF8_ENST00000456846.2_Silent_p.I221I	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	221					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CTTTCACCATCCCCTACCTGA	0.522000													107	269					0	0	0.003610	0	0
PDE1C	5137	broad.mit.edu	37	7	31912913	31912913	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:31912913G>A	ENST00000396184.3	-	7	805	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	PDE1C_ENST00000396191.1_Missense_Mutation_p.R201C|PDE1C_ENST00000396182.2_Missense_Mutation_p.R201C|PDE1C_ENST00000396193.1_Missense_Mutation_p.R261C|PDE1C_ENST00000321453.7_Missense_Mutation_p.R201C	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	201					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ACCTTGAAACGGCTGATCAGA	0.368000													52	32					0	0	0.003610	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733044	56733044	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:56733044C>T	ENST00000587340.1	-	7	2086	c.1391G>A	c.(1390-1392)gGa>gAa	p.G464E	ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.G464E|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.G318E|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.G347E|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.G463E			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	464					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGGTTTCTCTCCGGAGTGGAT	0.498000													28	25					0	0	0.009535	0	0
SRCAP	10847	broad.mit.edu	37	16	30736020	30736020	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:30736020C>T	ENST00000262518.4	+	25	5660	c.5275C>T	c.(5275-5277)Cca>Tca	p.P1759S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1697S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1601S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1759	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCCAGCTTCTCCAGTGGGccc	0.617000													20	20					0	0	0.010504	0	0
C8orf34	116328	broad.mit.edu	37	8	69351778	69351778	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:69351778C>T	ENST00000337103.4	+	1	1631	c.39C>T	c.(37-39)atC>atT	p.I13I	C8orf34_ENST00000348340.2_Silent_p.I38I|C8orf34_ENST00000523686.1_Silent_p.I38I|C8orf34_ENST00000518698.1_Silent_p.I124I|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000539993.1_Silent_p.I38I			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	38					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ACCAGCCAATCCCATTTCTCA	0.388000													18	28					0	0	0.002299	0	0
OR51F2	119694	broad.mit.edu	37	11	4843076	4843076	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:4843076G>A	ENST00000322110.5	+	1	526	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCAATGCCCGAATTGCCAAG	0.463000													84	109					0	0	0.003610	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6624750	6624750	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:6624750C>T	ENST00000396706.2	+	7	1043	c.600C>T	c.(598-600)acC>acT	p.T200T	ZDHHC4_ENST00000335965.6_Silent_p.T200T|ZDHHC4_ENST00000396709.1_Silent_p.T200T|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Silent_p.T200T|ZDHHC4_ENST00000405731.3_Silent_p.T200T|ZDHHC4_ENST00000396707.2_Silent_p.T200T			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	200						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ACGTCTTGACCTTGACGGCCT	0.522000													20	58					0	0	0.001882	0	0
ZIM2	23619	broad.mit.edu	37	19	57286743	57286743	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:57286743C>T	ENST00000391708.3	-	12	1439	c.897G>A	c.(895-897)aaG>aaA	p.K299K	AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Silent_p.K299K|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Silent_p.K299K|ZIM2_ENST00000593711.1_Silent_p.K299K|ZIM2_ENST00000221722.5_Silent_p.K299K	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTAGAGGATCCTTTGATTGTT	0.443000													24	30					0	0	0.002299	0	0
HOGA1	112817	broad.mit.edu	37	10	99359866	99359866	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:99359866G>A	ENST00000370646.4	+	5	1007	c.646G>A	c.(646-648)Gat>Aat	p.D216N	PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						CAGGAAGCAGGATTTTCAGGT	0.547000													58	79					0	0	0.003610	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097973	43097973	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:43097973C>T	ENST00000244336.5	-	2	245	c.144G>A	c.(142-144)ggG>ggA	p.G48G	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	48	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GAACCTCCTTCCCCTCTGCAG	0.537000													53	89					0	0	0.003610	0	0
OR2M4	26245	broad.mit.edu	37	1	248402794	248402794	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:248402794C>T	ENST00000306687.1	+	1	564	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			TACCTCTATCCTGCACAGAAA	0.403000													194	5					0	0	0.003610	0	0
STAB1	23166	broad.mit.edu	37	3	52551991	52551991	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:52551991G>A	ENST00000321725.6	+	45	4809	c.4733G>A	c.(4732-4734)gGc>gAc	p.G1578D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1578	EGF-like 13.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTGGGGGACGGCCTCACCTGC	0.612000													20	30					0	0	0.003330	0	0
GCLC	2729	broad.mit.edu	37	6	53373488	53373488	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:53373488G>A	ENST00000229416.6	-	8	1333	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	284					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CGGTAAAAGGGAGATGCAGCA	0.443000													39	31					0	0	0.008740	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47221100	47221100	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:47221100G>A	ENST00000296861.2	-	4	1794	c.1401C>T	c.(1399-1401)acC>acT	p.T467T		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	467	Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGCCCCGGATGGTCCAGTGCT	0.597000													11	10					0	0	0.008291	0	0
LAMA2	3908	broad.mit.edu	37	6	129766881	129766881	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:129766881C>T	ENST00000421865.2	+	45	6393	c.6344C>T	c.(6343-6345)cCc>cTc	p.P2115L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2115	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAACTCAAACCCATCAAGGAA	0.368000													21	4					0	0	0.010504	0	0
PMFBP1	83449	broad.mit.edu	37	16	72170606	72170606	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:72170606C>T	ENST00000537465.1	-	8	1189	c.1031G>A	c.(1030-1032)aGa>aAa	p.R344K	PMFBP1_ENST00000355636.6_Missense_Mutation_p.R199K|PMFBP1_ENST00000237353.10_Missense_Mutation_p.R344K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	344										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CATGATGTTTCTCTTCTGTTC	0.567000													16	8					0	0	0.004990	0	0
RNF216	54476	broad.mit.edu	37	7	5754796	5754796	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:5754796C>T	ENST00000425013.2	-	11	1774	c.1550G>A	c.(1549-1551)tGc>tAc	p.C517Y	RNF216_ENST00000389902.3_Missense_Mutation_p.C574Y	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	517					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CCCATAGCAGCAGCGACACTC	0.517000													63	205					0	0	0.003610	0	0
RUNX2	860	broad.mit.edu	37	6	45514563	45514563	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:45514563G>A	ENST00000371438.1	+	8	1445		c.e8-1		RUNX2_ENST00000371436.6_Splice_Site|RUNX2_ENST00000541979.1_Splice_Site|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000359524.5_Splice_Site|RUNX2_ENST00000352853.5_Splice_Site|RUNX2_ENST00000465038.2_Splice_Site|RUNX2_ENST00000371432.3_Splice_Site	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2						negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ATAATTTTTAGGTGCTTCAGA	0.393000													35	40					0	0	0.006999	0	0
TEKT1	83659	broad.mit.edu	37	17	6716195	6716195	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:6716195C>T	ENST00000338694.2	-	6	936	c.807G>A	c.(805-807)aaG>aaA	p.K269K	TEKT1_ENST00000535086.1_Silent_p.K123K	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	269					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CCTTTGTATCCTTCAGCCCAT	0.532000													65	70					0	0	0.003610	0	0
CPEB2	132864	broad.mit.edu	37	4	15063816	15063816	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:15063816C>T	ENST00000538197.1	+	11	2809	c.2809C>T	c.(2809-2811)Cag>Tag	p.Q937*	CPEB2_ENST00000541112.1_Nonsense_Mutation_p.Q929*|CPEB2_ENST00000507071.1_Nonsense_Mutation_p.Q492*|CPEB2_ENST00000442003.2_Nonsense_Mutation_p.Q910*|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Nonsense_Mutation_p.Q462*|CPEB2_ENST00000382401.3_Nonsense_Mutation_p.Q465*|CPEB2_ENST00000259997.5_Nonsense_Mutation_p.Q500*|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382395.3_Nonsense_Mutation_p.Q470*	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	492					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TTTCTCCAATCAGCAGAGCTA	0.438000													50	67					0	0	0.003610	0	0
CASR	846	broad.mit.edu	37	3	122002961	122002961	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:122002961G>A	ENST00000498619.1	+	7	2628	c.2190G>A	c.(2188-2190)ggG>ggA	p.G730G	CASR_ENST00000296154.5_Silent_p.G720G|CASR_ENST00000490131.1_Silent_p.G720G	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	720					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGTGGTGGGGGCTCAACCTGC	0.572000													16	11					0	0	0.004007	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795310	100795310	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:100795310C>T	ENST00000361529.3	+	5	653	c.575C>T	c.(574-576)tCc>tTc	p.S192F	SLC25A47_ENST00000557052.1_Missense_Mutation_p.S46F	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	192					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GACGGCCACTCCTTTGCCACC	0.692000													34	32					0	0	0.007835	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793332	65793332	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:65793332G>A	ENST00000312106.5	-	1	656	c.519C>T	c.(517-519)tcC>tcT	p.S173S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	173	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CACCATGGTGGGAAGCCTCAC	0.577000													26	19					0	0	0.009535	0	0
NRG3	10718	broad.mit.edu	37	10	84118499	84118499	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:84118499G>A	ENST00000372142.2	+	3	439	c.165G>A	c.(163-165)acG>acA	p.T55T	NRG3_ENST00000404547.1_Silent_p.T276T|NRG3_ENST00000404576.2_Silent_p.T80T|NRG3_ENST00000372141.2_Silent_p.T276T|NRG3_ENST00000556918.1_Silent_p.T106T	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	276					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TGACAGATACGACGACATATT	0.517000													41	35					0	0	0.003214	0	0
CLDN18	51208	broad.mit.edu	37	3	137717827	137717827	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:137717827C>T	ENST00000343735.4	+	1	251	c.117C>T	c.(115-117)ccC>ccT	p.P39P		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	39					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						ACAACAACCCCGTAACAGCTG	0.592000													30	67					0	0	0.002445	0	0
ACTL7A	10881	broad.mit.edu	37	9	111624630	111624630	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:111624630G>A	ENST00000333999.3	+	1	28	c.28G>A	c.(28-30)Ggg>Agg	p.G10R		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	10						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGCAATCATGGGGGATGGGCC	0.597000													25	4					0	0	0.004656	0	0
NUDT21	11051	broad.mit.edu	37	16	56485055	56485055	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:56485055G>A	ENST00000300291.5	-	1	232	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	20	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity	p.F20F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						ACTTGTTGCCGAACTGAGTGA	0.642000													40	51					0	0	0.003610	0	0
CD33	945	broad.mit.edu	37	19	51729081	51729081	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:51729081C>T	ENST00000436584.2	+	2	115	c.60C>T	c.(58-60)atC>atT	p.I20I	CD33_ENST00000391796.3_Silent_p.I147I|CD33_ENST00000262262.4_Silent_p.I147I|CD33_ENST00000421133.2_Silent_p.I20I			P20138	CD33_HUMAN	CD33 molecule	147	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GGCCCAAAATCCTCATCCCTG	0.572000													44	48					0	0	0.003610	0	0
OTX2	5015	broad.mit.edu	37	14	57268564	57268564	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:57268564G>A	ENST00000339475.5	-	5	1059	c.783C>T	c.(781-783)acC>acT	p.T261T	OTX2_ENST00000408990.3_Silent_p.T253T|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Silent_p.T253T	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	253					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E 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			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AGCAATCAGTGGTTGAGTTAA	0.468000													28	31					0	0	0.008361	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754840	140754840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140754840C>A	ENST00000517434.1	+	1	1190	c.1190C>A	c.(1189-1191)tCa>tAa	p.S397*	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGAAAAATCAGTTGGCAAT	0.453000													33	36					2.42023e-17	4.27677e-17	0.003271	1	0
CTNNA2	1496	broad.mit.edu	37	2	80085165	80085165	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:80085165G>A	ENST00000466387.1	+	8	1049	c.325G>A	c.(325-327)Gag>Aag	p.E109K	CTNNA2_ENST00000541047.1_Missense_Mutation_p.E109K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E143K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.E109K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E109K|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E109K			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	109					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGCCTCCTCCGAGTTTGCAGA	0.582000													63	69					0	0	0.003610	0	0
MYCBP2	23077	broad.mit.edu	37	13	77642939	77642939	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:77642939G>A	ENST00000407578.2	-	70	12198	c.11932C>T	c.(11932-11934)Cgc>Tgc	p.R3978C	MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3940C|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3940C	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3940					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.R3978C(1)|p.R3940C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTTCCATGCGAATAGCTTGG	0.388000													42	42					0	0	0.003610	0	0
PRPF8	10594	broad.mit.edu	37	17	1586852	1586852	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:1586852G>T	ENST00000572621.1	-	2	509	c.244C>A	c.(244-246)Cgc>Agc	p.R82S	PRPF8_ENST00000304992.6_Missense_Mutation_p.R82S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	82						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTGTCATGGCGGAACTTCCTG	0.478000													5	81					0.00307968	0.00539779	0.003080	1	0
LRRC18	474354	broad.mit.edu	37	10	50121985	50121985	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:50121985G>A	ENST00000374160.3	-	1	292	c.216C>T	c.(214-216)ttC>ttT	p.F72F	WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Silent_p.F72F|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	72						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GGAGGTTCTGGAACTTGGAGA	0.532000													23	24					0	0	0.003330	0	0
CSPG4	1464	broad.mit.edu	37	15	75977729	75977729	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:75977729G>A	ENST00000308508.5	-	4	4195	c.4103C>T	c.(4102-4104)cCt>cTt	p.P1368L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1368	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCACCCTCAGGGACGCTGAA	0.682000													5	7					0	0	0.000602	0	0
PCED1B	91523	broad.mit.edu	37	12	47629524	47629524	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:47629524C>T	ENST00000546455.1	+	4	1409	c.678C>T	c.(676-678)caC>caT	p.H226H	PCED1B_ENST00000432328.1_Silent_p.H226H					PC-esterase domain containing 1B																		AGAACCTGCACTGGGACGGGG	0.632000													6	7					0	0	0.001168	0	0
MYO5B	4645	broad.mit.edu	37	18	47402197	47402197	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:47402197C>T	ENST00000285039.7	-	26	3696	c.3396_splice	c.e26-1	p.E1133_splice	MYO5B_ENST00000324581.6_Splice_Site_p.E274_splice|MYO5B_ENST00000587895.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1133					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			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)		AGGCCAATTTCCTTCAAAGGA	0.498000													29	29					0	0	0.002096	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2923809	2923809	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:2923809G>A	ENST00000254695.8	+	19	1761	c.1671G>A	c.(1669-1671)cgG>cgA	p.R557R	RAP1GAP2_ENST00000540393.2_Silent_p.R538R|RAP1GAP2_ENST00000366401.4_Silent_p.R542R|RAP1GAP2_ENST00000542807.1_Silent_p.R557R	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	557					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ACCAGTCACGGAGTCCCATCA	0.612000													16	7					0	0	0.004007	0	0
TMEM26	219623	broad.mit.edu	37	10	63188716	63188716	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:63188716G>A	ENST00000399298.3	-	4	941	c.573C>T	c.(571-573)ttC>ttT	p.F191F	TMEM26_ENST00000399293.1_Silent_p.F191F	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	191						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TCTCACTTGTGAATTCCAGTA	0.463000													21	31					0	0	0.004656	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55250025	55250025	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:55250025C>T	ENST00000342376.3	+	1	46	c.15C>T	c.(13-15)gtC>gtT	p.V5V	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Silent_p.V5V|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CGCTCATGGTCGTCAGCATGG	0.612000											OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	32	51					0	0	0.005524	0	0
GUCA1C	9626	broad.mit.edu	37	3	108626922	108626922	+	Missense_Mutation	SNP	C	C	T	rs146701862		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:108626922C>T	ENST00000261047.3	-	4	709	c.577G>A	c.(577-579)Gac>Aac	p.D193N	GUCA1C_ENST00000393963.3_3'UTR	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	193					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TTGGAGGAGTCTGTCTCCATG	0.458000													19	23					0	0	0.007413	0	0
PALD1	27143	broad.mit.edu	37	10	72289707	72289707	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:72289707C>T	ENST00000263563.6	+	4	619	c.351C>T	c.(349-351)agC>agT	p.S117S		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CCGTGGGAAGCTGTGGGGCCC	0.642000													17	17					0	0	0.004007	0	0
COL13A1	1305	broad.mit.edu	37	10	71689835	71689835	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:71689835G>A	ENST00000356340.3	+	27	2025	c.1489G>A	c.(1489-1491)Ggg>Agg	p.G497R	COL13A1_ENST00000398973.3_Missense_Mutation_p.G497R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G485R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G475R|COL13A1_ENST00000520133.1_Missense_Mutation_p.G446R|COL13A1_ENST00000522165.1_Missense_Mutation_p.G478R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G475R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G497R|COL13A1_ENST00000357811.3_Missense_Mutation_p.G475R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G478R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G497R|COL13A1_ENST00000398978.3_Missense_Mutation_p.G497R|COL13A1_ENST00000398964.3_Missense_Mutation_p.G468R|COL13A1_ENST00000354547.3_Missense_Mutation_p.G475R|COL13A1_ENST00000398969.3_Missense_Mutation_p.G440R|COL13A1_ENST00000520267.1_Missense_Mutation_p.G440R			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	497	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGGACACGATGGGGAAAAGGT	0.562000													10	13					0	0	0.001368	0	0
SNX25	83891	broad.mit.edu	37	4	186185657	186185657	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:186185657G>A	ENST00000504273.1	+	4	599	c.305G>A	c.(304-306)aGa>aAa	p.R102K	SNX25_ENST00000264694.8_Missense_Mutation_p.R102K			Q9H3E2	SNX25_HUMAN	sorting nexin 25	102	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GATGAAGTAAGATTTCTACAA	0.413000													46	51					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179658259	179658259	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179658259C>T	ENST00000589042.1	-	9	1632	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	TTN_ENST00000342992.6_Missense_Mutation_p.E470K|TTN_ENST00000360870.5_Missense_Mutation_p.E470K|TTN_ENST00000591111.1_Missense_Mutation_p.E470K|TTN_ENST00000342175.6_Missense_Mutation_p.E470K|TTN_ENST00000460472.2_Missense_Mutation_p.E470K|TTN_ENST00000359218.5_Missense_Mutation_p.E470K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	470							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)			TTCTCCGCTTCCTTTCTTACC	0.398000													32	29					0	0	0.003271	0	0
SLC22A14	9389	broad.mit.edu	37	3	38355426	38355426	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:38355426C>T	ENST00000273173.4	+	7	1463	c.1372C>T	c.(1372-1374)Cct>Tct	p.P458S	SLC22A14_ENST00000448498.1_Missense_Mutation_p.P458S	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	458						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCTTTTCCTCCCTGAAGGTAC	0.602000													33	24					0	0	0.004289	0	0
PI3	5266	broad.mit.edu	37	20	43804764	43804764	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:43804764C>T	ENST00000243924.3	+	2	389	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	114	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TGGCCTGTTTCGTTCCCCAGT	0.567000													38	31					0	0	0.006230	0	0
KRT6A	3853	broad.mit.edu	37	12	52881690	52881690	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:52881690G>A	ENST00000330722.6	-	9	1577	c.1509C>T	c.(1507-1509)gtC>gtT	p.V503V		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	503	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCACTGCCGACACCACTGG	0.607000													16	21					0	0	0.010504	0	0
TLE4	7091	broad.mit.edu	37	9	82324555	82324555	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:82324555C>T	ENST00000376520.4	+	15	2205	c.1377C>T	c.(1375-1377)caC>caT	p.H459H	TLE4_ENST00000376552.2_Silent_p.H427H|TLE4_ENST00000265284.6_Silent_p.H402H|TLE4_ENST00000376534.4_Silent_p.H64H|TLE4_ENST00000376537.4_Silent_p.H459H|TLE4_ENST00000376544.3_Silent_p.H358H			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTGATCCACACCATCACATGC	0.413000													21	4					0	0	0.002780	0	0
TMEM151A	256472	broad.mit.edu	37	11	66063101	66063101	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:66063101G>A	ENST00000327259.4	+	2	1528	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	462						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CGGCTGCCAGGGGGATGGGCA	0.662000													3	2					0	0	0.004672	0	0
MASP1	5648	broad.mit.edu	37	3	186953993	186953993	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:186953993G>A	ENST00000296280.6	-	11	1891	c.1666C>T	c.(1666-1668)Ctg>Ttg	p.L556L	MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Silent_p.L443L	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	555	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGCTGCACCAGAGCTATATCG	0.607000													31	26					0	0	0.002836	0	0
MTMR8	55613	broad.mit.edu	37	X	63574672	63574672	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:63574672G>A	ENST00000374852.3	-	4	520	c.453C>T	c.(451-453)gcC>gcT	p.A151A	MTMR8_ENST00000453546.1_Silent_p.A151A	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	151	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGTTTCTGTTGGCATCTGTTA	0.383000													24	36					0	0	0.002096	0	0
FGD5	152273	broad.mit.edu	37	3	14939498	14939498	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:14939498G>A	ENST00000285046.5	+	6	3072	c.2962G>A	c.(2962-2964)Gat>Aat	p.D988N	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.D747N	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	988	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.D747H(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCAGGGGTTTGATCACCACGC	0.587000													27	27					0	0	0.005443	0	0
ZNF639	51193	broad.mit.edu	37	3	179051528	179051528	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:179051528C>T	ENST00000326361.3	+	7	1221	c.776C>T	c.(775-777)cCc>cTc	p.P259L	ZNF639_ENST00000496856.1_Missense_Mutation_p.P259L|ZNF639_ENST00000484866.1_Missense_Mutation_p.P259L	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	259					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAAGAGGATCCCTACATTTGT	0.383000													34	40					0	0	0.002836	0	0
SLC26A6	65010	broad.mit.edu	37	3	48668507	48668507	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:48668507G>A	ENST00000358747.6	-	8	1240	c.990C>T	c.(988-990)atC>atT	p.I330I	SLC26A6_ENST00000337000.8_Silent_p.I244I|SLC26A6_ENST00000383733.3_Silent_p.I351I|SLC26A6_ENST00000420764.2_Silent_p.I351I|SLC26A6_ENST00000395550.2_Silent_p.I351I|SLC26A6_ENST00000455886.2_Silent_p.I315I	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CAACCACAGCGATGGTGAAGG	0.612000													36	48					0	0	0.005524	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884573	228884573	+	Missense_Mutation	SNP	C	C	T	rs148914025		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:228884573C>T	ENST00000392056.3	-	7	1043	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E333K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	333						cytoplasm	protein binding	p.E333K(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGTGATTTTTCCATTTGACCT	0.428000													45	77					0	0	0.009718	0	0
SYNE1	23345	broad.mit.edu	37	6	152589264	152589264	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:152589264G>A	ENST00000367255.5	-	100	19343	c.18742C>T	c.(18742-18744)Ctt>Ttt	p.L6248F	SYNE1_ENST00000265368.4_Missense_Mutation_p.L6248F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L6177F|SYNE1_ENST00000356820.4_Missense_Mutation_p.L772F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L6177F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L5860F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6248					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTGAGCGAAGGAGACTCTTC	0.443000										HNSCC(10;0.0054)			43	5					0	0	0.003610	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182346	140182346	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140182346C>T	ENST00000522353.2	+	1	1564	c.1564C>T	c.(1564-1566)Ccg>Tcg	p.P522S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P522S	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCTGCAGCCGCTGGACCA	0.682000													68	83					0	0	0.003610	0	0
KIAA1551	55196	broad.mit.edu	37	12	32135303	32135303	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:32135303G>T	ENST00000312561.4	+	4	1828	c.1414G>T	c.(1414-1416)Gta>Tta	p.V472L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		AACACCAACAGTAGTGGAATC	0.383000													36	53					9.04072e-19	1.59904e-18	0.003271	1	0
SAMD7	344658	broad.mit.edu	37	3	169639115	169639115	+	Missense_Mutation	SNP	G	G	A	rs138236130	by1000genomes	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:169639115G>A	ENST00000428432.2	+	4	589	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	SAMD7_ENST00000335556.3_Missense_Mutation_p.R67Q	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	67										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TTGTCCAGTCGGATCTACCCA	0.428000													24	25					0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	9091108	9091108	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9091108G>A	ENST00000397910.4	-	1	910	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	236	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						GTCAAGGAAGGAAGAATAAAG	0.463000													33	40					0	0	0.002096	0	0
SI	6476	broad.mit.edu	37	3	164780273	164780273	+	Splice_Site	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:164780273T>C	ENST00000264382.3	-	9	970		c.e9-2			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAAAAATCTCTGCAAAATAAA	0.289000										HNSCC(35;0.089)			14	27					0	0	0.003163	0	0
SLC17A8	246213	broad.mit.edu	37	12	100751249	100751249	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:100751249A>T	ENST00000323346.5	+	1	393	c.80A>T	c.(79-81)gAt>gTt	p.D27V	SLC17A8_ENST00000392989.3_Missense_Mutation_p.D27V	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	27					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GCCGTGGGAGATTCTTTGGGA	0.403000													29	47					0	0	0.008361	0	0
KRT85	3891	broad.mit.edu	37	12	52756740	52756740	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:52756740C>T	ENST00000257901.3	-	6	1050	c.975G>A	c.(973-975)gtG>gtA	p.V325V	KRT85_ENST00000544265.1_Silent_p.V113V	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	325	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CATGCCTGATCACCGTGGCCT	0.582000													22	29					0	0	0.003954	0	0
LIG4	3981	broad.mit.edu	37	13	108862926	108862926	+	Missense_Mutation	SNP	G	G	A	rs3093765		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:108862926G>A	ENST00000356922.4	-	2	963	c.691C>T	c.(691-693)Cct>Tct	p.P231S	LIG4_ENST00000405925.1_Missense_Mutation_p.P231S|LIG4_ENST00000442234.1_Missense_Mutation_p.P231S	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	231			P -> S (in dbSNP:rs3093765).		cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCTACAGAAGGATCATGCAGT	0.363000								Non-homologous end-joining					23	22					0	0	0.002780	0	0
MTMR7	9108	broad.mit.edu	37	8	17228656	17228656	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:17228656C>T	ENST00000180173.5	-	3	234	c.200G>A	c.(199-201)gGa>gAa	p.G67E	MTMR7_ENST00000521857.1_Missense_Mutation_p.G67E	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	67							protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CAGAGGGCATCCGGTAGCGGT	0.433000													37	67					0	0	0.003214	0	0
CST8	10047	broad.mit.edu	37	20	23472382	23472382	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:23472382G>A	ENST00000246012.1	+	2	435	c.78G>A	c.(76-78)aaG>aaA	p.K26K		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	26						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACCCAAAAAAGAATGAGACAG	0.532000													54	65					0	0	0.003610	0	0
SMOC1	64093	broad.mit.edu	37	14	70459159	70459159	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:70459159G>A	ENST00000381280.4	+	6	805	c.552G>A	c.(550-552)acG>acA	p.T184T	SMOC1_ENST00000361956.3_Silent_p.T184T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	184					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGACACCCACGATGGAGACCC	0.438000													24	33					0	0	0.007291	0	0
BRINP3	339479	broad.mit.edu	37	1	190067595	190067595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:190067595C>T	ENST00000367462.3	-	8	2085	c.1854G>A	c.(1852-1854)tgG>tgA	p.W618*	FAM5C_ENST00000534846.1_Nonsense_Mutation_p.W516*|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		618						extracellular region		p.W618C(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAAATGTCTTCCATTTGTTCC	0.433000													485	25					0	0	0.003610	0	0
FCRLA	84824	broad.mit.edu	37	1	161683039	161683039	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:161683039C>T	ENST00000367959.2	+	6	1260	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L	FCRLA_ENST00000349527.4_Silent_p.L222L|FCRLA_ENST00000309691.6_Silent_p.L228L|FCRLA_ENST00000367949.2_Silent_p.L150L|FCRLA_ENST00000540926.1_Silent_p.L323L|FCRLA_ENST00000367950.1_Silent_p.L110L|FCRLA_ENST00000367953.3_Silent_p.L323L|FCRLA_ENST00000294796.4_Silent_p.L183L|FCRLA_ENST00000546024.1_Silent_p.L245L|FCRLA_ENST00000367957.2_Silent_p.L194L|FCRLA_ENST00000350710.3_Silent_p.L99L|FCRLA_ENST00000236938.6_Silent_p.L334L|FCRLA_ENST00000540521.1_Silent_p.L200L|FCRLA_ENST00000470841.1_3'UTR	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	317					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			AGATCCTCATCTGTATCACCA	0.567000													114	3					0	0	0.003610	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764816	109764816	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:109764816G>A	ENST00000602699.1	+	0	1277					NR_002718.2																						ATGGCCTTGTGATGGATGAGC	0.532000													21	25					0	0	0.001882	0	0
SYCE2	256126	broad.mit.edu	37	19	13015451	13015451	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:13015451C>T	ENST00000293695.7	-	3	179	c.161G>A	c.(160-162)gGg>gAg	p.G54E	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	54					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TCCCGACTTCCCTTCCAGGAC	0.552000													55	64					0	0	0.003610	0	0
CHGB	1114	broad.mit.edu	37	20	5903299	5903299	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:5903299G>A	ENST00000378961.4	+	4	713	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	170	Poly-Glu.					extracellular region	hormone activity	p.G170E(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGGAGGAGGGAGAGAACTAT	0.507000													17	26					0	0	0.006122	0	0
MUC5B	727897	broad.mit.edu	37	11	1270696	1270696	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:1270696G>A	ENST00000447027.1	+	31	12653	c.12595G>A	c.(12595-12597)Gac>Aac	p.D4199N	MUC5B_ENST00000529681.1_Missense_Mutation_p.D4196N|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4196	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATGCAGCCTGGACTTTGGCCT	0.632000													44	50					0	0	0.003610	0	0
SAGE1	55511	broad.mit.edu	37	X	134992691	134992691	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:134992691C>T	ENST00000535938.1	+	16	2149	c.1982C>T	c.(1981-1983)tCa>tTa	p.S661L	SAGE1_ENST00000370709.3_Missense_Mutation_p.S661L|SAGE1_ENST00000537770.1_Missense_Mutation_p.S285L|SAGE1_ENST00000324447.3_Missense_Mutation_p.S661L	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	661										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GCTGGAATTTCATCCACGATT	0.438000													136	77					0	0	0.003610	0	0
KSR2	283455	broad.mit.edu	37	12	118199276	118199276	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:118199276C>T	ENST00000425217.1	-	4	493	c.439G>A	c.(439-441)Ggg>Agg	p.G147R	KSR2_ENST00000339824.5_Missense_Mutation_p.G176R	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	176					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTCCTTCCCCGTCTCTGTC	0.597000													33	45					0	0	0.004878	0	0
IL17RE	132014	broad.mit.edu	37	3	9948474	9948474	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:9948474C>T	ENST00000454190.2	+	5	536	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	IL17RE_ENST00000383814.3_Missense_Mutation_p.R151C|IL17RE_ENST00000295980.3_Missense_Mutation_p.R151C|IL17RE_ENST00000421412.1_Missense_Mutation_p.R184C	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	151						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CAAGGGACTTCGCTCTAAAAG	0.532000													45	76					0	0	0.003214	0	0
YEATS2	55689	broad.mit.edu	37	3	183435492	183435492	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:183435492C>T	ENST00000305135.5	+	3	349	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	52					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACAGTTTGCTCTTGAAATGAA	0.323000													59	76					0	0	0.003610	0	0
ACSL5	51703	broad.mit.edu	37	10	114177625	114177625	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:114177625C>T	ENST00000393081.1	+	14	1547	c.1240C>T	c.(1240-1242)Cgt>Tgt	p.R414C	ACSL5_ENST00000433418.1_Missense_Mutation_p.R414C|ACSL5_ENST00000356116.1_Missense_Mutation_p.R470C|ACSL5_ENST00000354655.4_Missense_Mutation_p.R414C|ACSL5_ENST00000354273.4_Missense_Mutation_p.R414C|ACSL5_ENST00000369410.3_Missense_Mutation_p.R196C|RP11-324O2.6_ENST00000424422.1_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	414					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.R470C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CGGAAGGGTTCGTGTAATTGT	0.473000													51	64					0	0	0.003610	0	0
GYS2	2998	broad.mit.edu	37	12	21693416	21693416	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:21693416G>A	ENST00000261195.2	-	14	1991	c.1737C>T	c.(1735-1737)cgC>cgT	p.R579R		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	579					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCTTTGGCGGCGTGACTGTT	0.438000													72	77					0	0	0.003610	0	0
FASN	2194	broad.mit.edu	37	17	80046411	80046411	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:80046411G>A	ENST00000306749.2	-	16	2666	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	816	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCACAGGTGGGAACAAGGCAT	0.657000													18	22					0	0	0.002299	0	0
KCNMA1	3778	broad.mit.edu	37	10	78850189	78850189	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:78850189C>T	ENST00000286627.5	-	10	2255	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	KCNMA1_ENST00000286628.8_Missense_Mutation_p.D435N|KCNMA1_ENST00000372443.1_Missense_Mutation_p.D435N|KCNMA1_ENST00000404857.1_Missense_Mutation_p.D435N|KCNMA1_ENST00000354353.5_Missense_Mutation_p.D435N|KCNMA1_ENST00000372440.1_Missense_Mutation_p.D435N|KCNMA1_ENST00000406533.3_Missense_Mutation_p.D435N|KCNMA1_ENST00000404771.3_Missense_Mutation_p.D435N	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	435	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	ACATTGACGTCATCCCGGTCC	0.522000													40	34					0	0	0.009718	0	0
ART1	417	broad.mit.edu	37	11	3680495	3680495	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:3680495G>A	ENST00000250693.1	+	2	153	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	ART1_ENST00000529556.1_3'UTR	NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	18					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GGGCCTCATGGAAGCACTTCA	0.547000													33	32					0	0	0.006999	0	0
RELN	5649	broad.mit.edu	37	7	103338452	103338452	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:103338452C>T	ENST00000424685.2	-	10	1150	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	RELN_ENST00000428762.1_Missense_Mutation_p.E331K|RELN_ENST00000343529.5_Missense_Mutation_p.E331K			P78509	RELN_HUMAN	reelin	331					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.E331K(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGAAGATTTTCCTGCTTCCAC	0.448000													51	105					0	0	0.003610	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141461210	141461210	+	Missense_Mutation	SNP	G	G	A	rs139631202	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:141461210G>A	ENST00000389328.4	-	2	571	c.557C>T	c.(556-558)tCg>tTg	p.S186L	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.S88L|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S88L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	88					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GTCCTTGGCCGAGAAGCAGTC	0.577000													19	39					0	0	0.002299	0	0
SLC35F1	222553	broad.mit.edu	37	6	118596645	118596645	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:118596645C>T	ENST00000360388.4	+	5	862	c.661C>T	c.(661-663)Ctt>Ttt	p.L221F		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	221					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GGTAGGGGACCTTCTGGTCTT	0.448000													17	2					0	0	0.004990	0	0
KCNH3	23416	broad.mit.edu	37	12	49942799	49942799	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:49942799G>A	ENST00000257981.6	+	8	1571	c.1311G>A	c.(1309-1311)ggG>ggA	p.G437G		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	437					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGGCCAACGGGACGGGGCTGG	0.682000													9	15					0	0	0.008291	0	0
LINC01566	283914	broad.mit.edu	37	16	34624268	34624268	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:34624268C>T	ENST00000569242.1	+	0	2114					NR_027079.1																						ATCTGTTTTCCATGAACAATT	0.368000													44	61					0	0	0.007835	0	0
OR52I2	143502	broad.mit.edu	37	11	4608812	4608812	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:4608812G>A	ENST00000312614.4	+	1	792	c.770G>A	c.(769-771)gGt>gAt	p.G257D		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		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)		GCAGTATTTGGTCTCTCCTCA	0.473000													32	67					0	0	0.003610	0	0
CXCR2	3579	broad.mit.edu	37	2	219000367	219000367	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:219000367G>A	ENST00000318507.2	+	3	1270	c.843G>A	c.(841-843)gtG>gtA	p.V281V		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	281					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GGACCCAGGTGATCCAGGAGA	0.607000													29	43					0	0	0.009535	0	0
TNXB	7148	broad.mit.edu	37	6	32021304	32021304	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32021304C>T	ENST00000375244.3	-	25	8853	c.8652G>A	c.(8650-8652)caG>caA	p.Q2884Q	TNXB_ENST00000375247.2_Silent_p.Q2882Q			P22105	TENX_HUMAN	tenascin XB	2931					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCACCTTGGGCTGCCCATCCC	0.632000													208	477					0	0	0.003610	0	0
SERPINE2	5270	broad.mit.edu	37	2	224866633	224866633	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:224866633G>A	ENST00000447280.2	-	2	321	c.21C>T	c.(19-21)tcC>tcT	p.S7S	SERPINE2_ENST00000258405.4_5'UTR|SERPINE2_ENST00000409304.1_5'UTR|SERPINE2_ENST00000409840.3_5'UTR	NM_001136530.1	NP_001130002.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	0					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTTCCACCAAGGACGACCTGG	0.428000													34	24					0	0	0.002445	0	0
KIAA1217	56243	broad.mit.edu	37	10	24809118	24809118	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:24809118G>A	ENST00000376451.2	+	6	1553	c.1293G>A	c.(1291-1293)ctG>ctA	p.L431L	KIAA1217_ENST00000376454.3_Silent_p.L748L|KIAA1217_ENST00000458595.1_Silent_p.L713L|KIAA1217_ENST00000376462.1_Silent_p.L668L|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376452.3_Silent_p.L713L|KIAA1217_ENST00000396445.1_Silent_p.L431L|KIAA1217_ENST00000307544.6_Silent_p.L431L|KIAA1217_ENST00000396446.1_Silent_p.L431L			Q5T5P2	SKT_HUMAN	KIAA1217	748					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGGTTACTCTGAAAGACGTGG	0.552000													75	92					0	0	0.003610	0	0
FASTK	10922	broad.mit.edu	37	7	150775013	150775013	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:150775013C>T	ENST00000297532.6	-	5	1069	c.992G>A	c.(991-993)aGa>aAa	p.R331K	FASTK_ENST00000353841.2_Missense_Mutation_p.R190K|FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000482571.1_Missense_Mutation_p.R304K|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	331					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GTGCAGGGCTCTGAAGGGCAG	0.607000													48	21					0	0	0.003610	0	0
UNC5B	219699	broad.mit.edu	37	10	73055576	73055576	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:73055576G>A	ENST00000335350.6	+	14	2600	c.2184G>A	c.(2182-2184)ctG>ctA	p.L728L	UNC5B_ENST00000373192.4_Silent_p.L717L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	728					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AGGAGGTGCTGGAGCTGGAGC	0.642000													15	6					0	0	0.003163	0	0
ESYT3	83850	broad.mit.edu	37	3	138170893	138170893	+	Missense_Mutation	SNP	C	C	T	rs143292701	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:138170893C>T	ENST00000389567.4	+	2	517	c.331C>T	c.(331-333)Cac>Tac	p.H111Y	ESYT3_ENST00000289135.4_Missense_Mutation_p.H111Y	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	111						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TTCCTAGATCCACTTCCCGGA	0.672000													85	97					0	0	0.003610	0	0
TEX15	56154	broad.mit.edu	37	8	30705003	30705003	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:30705003C>T	ENST00000256246.2	-	1	1605	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	511										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTGAAATTTTCGTTTGTATGA	0.303000													38	46					0	0	0.004878	0	0
KRT74	121391	broad.mit.edu	37	12	52962029	52962029	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:52962029C>T	ENST00000549343.1	-	8	1359	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	KRT74_ENST00000305620.2_Missense_Mutation_p.E427K			Q7RTS7	K2C74_HUMAN	keratin 74	427	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTCATGAGCTCCTGGTACTCG	0.637000													27	37					0	0	0.009535	0	0
ANK3	288	broad.mit.edu	37	10	61819725	61819725	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:61819725C>T	ENST00000373827.2	-	40	4948	c.4778G>A	c.(4777-4779)gGg>gAg	p.G1593E	ANK3_ENST00000280772.1_Intron|ANK3_ENST00000355288.2_Missense_Mutation_p.G733E|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000503366.1_Missense_Mutation_p.G1600E	NM_001204403.1	NP_001191332.1	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	0	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTAGTGCAACCCTGTGGGGGT	0.423000													15	26					0	0	0.004990	0	0
MYO16	23026	broad.mit.edu	37	13	109707898	109707898	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:109707898G>A	ENST00000356711.2	+	27	3350	c.3224G>A	c.(3223-3225)cGa>cAa	p.R1075Q	MYO16_ENST00000457511.2_Missense_Mutation_p.R587Q|MYO16_ENST00000357550.2_Missense_Mutation_p.R1075Q	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1075	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAGATCTTCCGATATGGATAC	0.438000													73	75					0	0	0.003610	0	0
ST18	9705	broad.mit.edu	37	8	53071640	53071640	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:53071640G>A	ENST00000276480.7	-	15	2307	c.1624C>T	c.(1624-1626)Cct>Tct	p.P542S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	542						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)				AGTCGATTAGGAAATTTCACT	0.438000													37	45					0	0	0.004289	0	0
TTN	7273	broad.mit.edu	37	2	179459340	179459340	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179459340T>A	ENST00000589042.1	-	296	58105	c.57881A>T	c.(57880-57882)aAa>aTa	p.K19294I	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K16726I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K17653I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K10421I|TTN_ENST00000460472.2_Missense_Mutation_p.K10229I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K10354I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17653	Fibronectin type-III 39.						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)			AGTAACTTCTTTGACTTCCAG	0.378000													45	56					0	0	0.003610	0	0
NLRP4	147945	broad.mit.edu	37	19	56363466	56363466	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:56363466C>T	ENST00000301295.6	+	2	442	c.20C>T	c.(19-21)tCt>tTt	p.S7F	NLRP4_ENST00000346986.5_Missense_Mutation_p.S7F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	7	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCTTTCTTCTCTGATTTTGGT	0.393000													55	83					0	0	0.003610	0	0
KIAA1045	23349	broad.mit.edu	37	9	34978046	34978046	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:34978046G>A	ENST00000242315.3	+	8	1223	c.1141G>A	c.(1141-1143)Gtc>Atc	p.V381I	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.V381I	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	381							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCAAGAGAATGTCCTCTACAT	0.557000													59	59					0	0	0.003610	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953751	8953751	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:8953751C>T	ENST00000595891.1	+	3	628	c.397C>T	c.(397-399)Cct>Tct	p.P133S	MBD3L1_ENST00000305625.2_Missense_Mutation_p.P133S			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GGAGATAATTCCTGCAGAGGG	0.522000													17	11					0	0	0.006122	0	0
DPEP3	64180	broad.mit.edu	37	16	68011631	68011631	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:68011631C>T	ENST00000268793.4	-	6	1306	c.933G>A	c.(931-933)gtG>gtA	p.V311V		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	286					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGGAGAAGATCACAGGAGCCT	0.498000													11	9					0	0	0.001368	0	0
LAMA2	3908	broad.mit.edu	37	6	129762062	129762062	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:129762062G>A	ENST00000421865.2	+	43	6236	c.6187G>A	c.(6187-6189)Gat>Aat	p.D2063N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2063	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCAGAACCTCGATGGCCTGAA	0.443000													21	4					0	0	0.010504	0	0
XIRP2	129446	broad.mit.edu	37	2	168106510	168106510	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:168106510C>T	ENST00000409195.1	+	9	8697	c.8608C>T	c.(8608-8610)Cag>Tag	p.Q2870*	XIRP2_ENST00000409273.1_Nonsense_Mutation_p.Q2648*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.Q2870*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2695					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCAGAATTTTCAGCAAACACA	0.388000													48	61					0	0	0.003610	0	0
C1orf168	199920	broad.mit.edu	37	1	57254736	57254736	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:57254736G>A	ENST00000343433.6	-	3	909	c.829C>T	c.(829-831)Cct>Tct	p.P277S	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	277										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGGGGAGGAGGACCCAGGGAG	0.517000													61	4					0	0	0.003610	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334430	37334430	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:37334430C>T	ENST00000262825.5	+	14	2815	c.2598C>T	c.(2596-2598)ccC>ccT	p.P866P	CSF2RB_ENST00000406230.1_Silent_p.P866P|CSF2RB_ENST00000536485.1_Silent_p.P807P|CSF2RB_ENST00000403662.3_Silent_p.P860P	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	860					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TCAAGAAGCCCCCAGGCCAGG	0.617000													66	67					0	0	0.003610	0	0
LTN1	26046	broad.mit.edu	37	21	30365209	30365209	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:30365209G>A	ENST00000389194.2	-	1	61	c.56C>T	c.(55-57)tCt>tTt	p.S19F	LTN1_ENST00000361371.4_5'UTR|LTN1_ENST00000389195.2_Missense_Mutation_p.S19F			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	0							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGCGGCGGAAGAGGACACCCT	0.632000													9	5					0	0	0.004482	0	0
PSMA4	5685	broad.mit.edu	37	15	78837985	78837985	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:78837985C>T	ENST00000044462.7	+	7	536	c.386C>T	c.(385-387)cCc>cTc	p.P129L	PSMA4_ENST00000559082.1_Missense_Mutation_p.P129L|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558281.1_Missense_Mutation_p.P129L|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000413382.2_Missense_Mutation_p.P58L|PSMA4_ENST00000558094.1_Missense_Mutation_p.P41L|PSMA4_ENST00000560217.1_Missense_Mutation_p.P98L	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	129					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGAAAACGTCCCTTTGGTGTT	0.408000													57	107					0	0	0.003610	0	0
OR8H1	219469	broad.mit.edu	37	11	56057790	56057790	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:56057790A>T	ENST00000313022.2	-	1	776	c.749T>A	c.(748-750)tTt>tAt	p.F250Y		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGTTCCATAAAAGATGGTGAC	0.363000													30	24					0	0	0.006320	0	0
TMEM120B	144404	broad.mit.edu	37	12	122181600	122181600	+	Silent	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:122181600T>C	ENST00000449592.2	+	2	236	c.135T>C	c.(133-135)agT>agC	p.S45S		NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	45						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TGTGTAGCAGTTCCATCAGTA	0.592000													27	34					0	0	0.002836	0	0
DEGS2	123099	broad.mit.edu	37	14	100615377	100615377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:100615377C>T	ENST00000305631.5	-	2	1328	c.753G>A	c.(751-753)tgG>tgA	p.W251*	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	251					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				TGAAGGTGATCCAGTTGAGAG	0.632000													42	40					0	0	0.003610	0	0
CNBD2	140894	broad.mit.edu	37	20	34572609	34572609	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:34572609G>A	ENST00000373973.3	+	6	798	c.625G>A	c.(625-627)Gag>Aag	p.E209K	CNBD2_ENST00000349339.1_Missense_Mutation_p.E209K|CNBD2_ENST00000538900.1_Missense_Mutation_p.E209K					cyclic nucleotide binding domain containing 2																		GGAAGAAACGGAGTTCCTGGT	0.498000													30	36					0	0	0.008361	0	0
FAM169B	283777	broad.mit.edu	37	15	98995172	98995172	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:98995172C>T	ENST00000558256.1	-	5	501	c.252G>A	c.(250-252)agG>agA	p.R84R	FAM169B_ENST00000332908.4_Silent_p.R84R	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	84										large_intestine(3)|lung(3)|urinary_tract(1)	7						AGTGTTTCCTCCTGATGAACA	0.577000													13	16					0	0	0.004007	0	0
ANGPT4	51378	broad.mit.edu	37	20	861886	861886	+	Silent	SNP	C	C	T	rs148851474		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:861886C>T	ENST00000381922.3	-	5	981	c.879G>A	c.(877-879)gaG>gaA	p.E293E	ANGPT4_ENST00000546022.1_Silent_p.E293E	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	293	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AGCGCTGGATCTCTGCACAGT	0.572000													15	27					0	0	0.004990	0	0
DEFA5	1670	broad.mit.edu	37	8	6914077	6914077	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:6914077C>T	ENST00000330590.2	-	1	179	c.143G>A	c.(142-144)gGa>gAa	p.G48E		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	48					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAGTCCATTTCCTGCAAAGGA	0.488000													56	58					0	0	0.003610	0	0
URB2	9816	broad.mit.edu	37	1	229773816	229773816	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:229773816C>T	ENST00000258243.2	+	4	3592	c.3456C>T	c.(3454-3456)gcC>gcT	p.A1152A		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1152						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCCATGTTGCCCTCTACCAGG	0.562000													73	3					0	0	0.003610	0	0
GGT7	2686	broad.mit.edu	37	20	33440060	33440060	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:33440060G>A	ENST00000336431.5	-	12	1529	c.1485C>T	c.(1483-1485)ccC>ccT	p.P495P	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	495					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CGCTGCCAAAGGGCTGGTTCA	0.652000													17	21					0	0	0.010504	0	0
OR2C1	4993	broad.mit.edu	37	16	3406010	3406010	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:3406010G>A	ENST00000304936.2	+	1	122	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCCCCAGCTGGAGATGATCTT	0.498000													42	39					0	0	0.002522	0	0
FAM169A	26049	broad.mit.edu	37	5	74077563	74077563	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:74077563G>A	ENST00000389156.4	-	13	1825	c.1735C>T	c.(1735-1737)Ccc>Tcc	p.P579S	FAM169A_ENST00000510496.1_Missense_Mutation_p.P519S|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	579										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GTTTCCTGGGGCTCAGATACC	0.458000													17	16					0	0	0.004007	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54661835	54661835	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:54661835A>C	ENST00000474759.1	+	10	1033	c.985A>C	c.(985-987)Aaa>Caa	p.K329Q	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.K329Q|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.K235Q|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.K329Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	329	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCATCTGGACAAACTTTTCGC	0.413000													6	6					0	0	0.001984	0	0
SPEG	10290	broad.mit.edu	37	2	220354402	220354402	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:220354402C>T	ENST00000312358.7	+	36	8794	c.8662C>T	c.(8662-8664)Cct>Tct	p.P2888S	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2888	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCCTCCACTCCTCAAGGGGT	0.627000													78	80					0	0	0.003610	0	0
DOCK3	1795	broad.mit.edu	37	3	51266125	51266125	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:51266125C>T	ENST00000266037.9	+	18	1704	c.1681C>T	c.(1681-1683)Ctg>Ttg	p.L561L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	561	DHR-1.					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)		TAACCATGCTCTGTACCTGGG	0.468000													19	18					0	0	0.008871	0	0
CSF1R	1436	broad.mit.edu	37	5	149457753	149457753	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:149457753C>T	ENST00000286301.3	-	5	942	c.651G>A	c.(649-651)ggG>ggA	p.G217G	CSF1R_ENST00000543093.1_Silent_p.G217G	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	217	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGCAGCCTCCCCTCGAATCC	0.592000													37	38					0	0	0.003755	0	0
BCAS3	54828	broad.mit.edu	37	17	59067440	59067440	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:59067440C>T	ENST00000589222.1	+	15	1398	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	BCAS3_ENST00000408905.3_Missense_Mutation_p.R444C|BCAS3_ENST00000588874.1_Missense_Mutation_p.R215C|BCAS3_ENST00000585744.1_Missense_Mutation_p.R215C|BCAS3_ENST00000390652.5_Missense_Mutation_p.R444C|BCAS3_ENST00000588462.1_Missense_Mutation_p.R444C|BCAS3_ENST00000407086.3_Missense_Mutation_p.R444C			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	444						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GCCTTGTGTTCGTACACATAT	0.512000													25	29					0	0	0.002780	0	0
NLRP5	126206	broad.mit.edu	37	19	56565005	56565005	+	Splice_Site	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:56565005T>C	ENST00000390649.3	+	13	3130	c.3128_splice	c.e13-1	p.L1044_splice		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1044						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCTTGCAGGTTGGTAAAGTG	0.532000													9	9					0	0	0.006214	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570138	61570138	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:61570138G>A	ENST00000457692.1	+	9	1180	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	SERPINB2_ENST00000299502.4_Missense_Mutation_p.E283K	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	283					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	tttgCAGCTGGAAAGTGAAAT	0.328000													6	13					0	0	0.001168	0	0
EVC	2121	broad.mit.edu	37	4	5811294	5811294	+	Missense_Mutation	SNP	C	C	T	rs148823298		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:5811294C>T	ENST00000382674.2	+	19	2922	c.2738C>T	c.(2737-2739)cCc>cTc	p.P913L	EVC_ENST00000264956.6_Missense_Mutation_p.P913L			P57679	EVC_HUMAN	Ellis van Creveld syndrome	913					muscle organ development	integral to membrane		p.P913L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GCCCGAGTGCCCCTTGCTGAA	0.562000													29	19					0	0	0.006230	0	0
BRCC3	79184	broad.mit.edu	37	X	154300608	154300608	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:154300608G>A	ENST00000369462.1	+	2	155	c.130G>A	c.(130-132)Gat>Aat	p.D44N	BRCC3_ENST00000399042.1_Intron|BRCC3_ENST00000369459.2_Missense_Mutation_p.D44N|BRCC3_ENST00000340647.4_Missense_Mutation_p.D44N|BRCC3_ENST00000330045.7_Missense_Mutation_p.D44N|MTCP1_ENST00000362018.2_Intron	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	44					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTAGTTGAACGATGATACAAG	0.328000													24	71					0	0	0.007291	0	0
SMARCA2	6595	broad.mit.edu	37	9	2088560	2088560	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:2088560C>T	ENST00000382203.1	+	19	3039	c.2830C>T	c.(2830-2832)Cca>Tca	p.P944S	SMARCA2_ENST00000382194.1_Missense_Mutation_p.P944S|SMARCA2_ENST00000349721.2_Missense_Mutation_p.P944S|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P944S			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	944					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GGTGTTAAGACCATTTTTACT	0.348000													92	112					0	0	0.003610	0	0
DLG2	1740	broad.mit.edu	37	11	84996306	84996306	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:84996306G>A	ENST00000376104.2	-	4	455	c.144C>T	c.(142-144)tcC>tcT	p.S48S	DLG2_ENST00000543673.1_Silent_p.S48S	NM_001142699.1	NP_001136171.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GAGCAAGAAGGGATGTCTTCT	0.373000													61	3					0	0	0.003610	0	0
HK3	3101	broad.mit.edu	37	5	176314234	176314234	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:176314234G>A	ENST00000292432.5	-	12	1796	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	569	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGTCTCGGGAATGGAGTAG	0.617000													8	27					0	0	0.003080	0	0
OR10H3	26532	broad.mit.edu	37	19	15853087	15853087	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:15853087G>A	ENST00000305892.1	+	1	885	c.885G>A	c.(883-885)agG>agA	p.R295R		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCAGTCTAAGGAACAAGGAGC	0.438000													70	82					0	0	0.003610	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443766	5443766	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5443766G>A	ENST00000300778.4	+	1	426	c.336G>A	c.(334-336)atG>atA	p.M112I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCCTTTATGGAGTCTTCTG	0.488000													61	72					0	0	0.003610	0	0
SELE	6401	broad.mit.edu	37	1	169699697	169699697	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:169699697C>T	ENST00000333360.7	-	5	730	c.591G>A	c.(589-591)ctG>ctA	p.L197L	SELE_ENST00000367779.4_Silent_p.L197L|SELE_ENST00000367782.4_Silent_p.L197L|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Silent_p.L197L|SELE_ENST00000367777.1_Silent_p.L197L|SELE_ENST00000367780.4_Intron|SELE_ENST00000367775.1_Intron|SELE_ENST00000367776.1_Silent_p.L197L|SELE_ENST00000367774.1_Silent_p.L197L	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	197	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGAAGTTTCCCAGTGGGTGAC	0.493000													108	1					0	0	0.003610	0	0
DDN	23109	broad.mit.edu	37	12	49390542	49390542	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:49390542C>T	ENST00000421952.2	-	2	2138	c.2117G>A	c.(2116-2118)gGa>gAa	p.G706E		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	706	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CTTCCTATTTCCCTGTTGGGT	0.552000											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	29					0	0	0.002299	0	0
PDE1A	5136	broad.mit.edu	37	2	183066172	183066172	+	Silent	SNP	G	G	A	rs149666537		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:183066172G>A	ENST00000435564.1	-	10	1367	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	PDE1A_ENST00000358139.2_Silent_p.F389F|PDE1A_ENST00000410103.1_Silent_p.F389F|PDE1A_ENST00000409365.1_Silent_p.F373F|PDE1A_ENST00000536095.1_Silent_p.F285F|PDE1A_ENST00000351439.5_Silent_p.F373F|PDE1A_ENST00000346717.4_Silent_p.F355F|PDE1A_ENST00000456212.1_Silent_p.F389F|PDE1A_ENST00000331935.6_Silent_p.F389F	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	389	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.F389F(1)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GCACCTGCAGGAAAAACTCCT	0.483000													58	68					0	0	0.003610	0	0
SYTL2	54843	broad.mit.edu	37	11	85436343	85436343	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:85436343G>A	ENST00000359152.5	-	1	2728	c.2729C>T	c.(2728-2730)tCg>tTg	p.S910L	SYTL2_ENST00000525423.1_Missense_Mutation_p.S386L|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.S386L	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TACAGTCTCCGAAATTTCCGT	0.468000													15	2					0	0	0.003163	0	0
MMP19	4327	broad.mit.edu	37	12	56232287	56232287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:56232287C>T	ENST00000409200.3	-	5	857	c.752G>A	c.(751-753)tGg>tAg	p.W251*	MMP19_ENST00000394182.1_Missense_Mutation_p.G12R|MMP19_ENST00000548629.1_Intron|MMP19_ENST00000322569.4_Intron			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	149					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GTCTAACCTCCATTGCTCATG	0.577000													22	20					0	0	0.005443	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22362919	22362919	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:22362919G>A	ENST00000390438.2	+	0	178																											GTTGCAGGAGGAACCAGAGCC	0.483000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	29					0	0	0.007413	0	0
OR5V1	81696	broad.mit.edu	37	6	29323340	29323340	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:29323340G>A	ENST00000377154.1	-	4	932	c.633C>T	c.(631-633)ttC>ttT	p.F211F	OR5V1_ENST00000543825.1_Silent_p.F211F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGATACAAAGGAAAGGAGTCC	0.478000													35	76					0	0	0.005524	0	0
ASGR1	432	broad.mit.edu	37	17	7080604	7080604	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:7080604C>T	ENST00000269299.3	-	3	511	c.112G>A	c.(112-114)Gga>Aga	p.G38R	ASGR1_ENST00000574388.1_Intron|ASGR1_ENST00000380920.4_5'UTR|ASGR1_ENST00000572879.1_5'UTR	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	38					receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						AGGCGAGGTCCGGAGCAGAGA	0.682000											OREG0024128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	22					0	0	0.002445	0	0
GPR112	139378	broad.mit.edu	37	X	135480048	135480048	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:135480048C>T	ENST00000394143.1	+	20	8484	c.8193C>T	c.(8191-8193)tcC>tcT	p.S2731S	GPR112_ENST00000412101.1_Silent_p.S2526S|GPR112_ENST00000370652.1_Silent_p.S2731S|GPR112_ENST00000394141.1_Silent_p.S2526S|GPR112_ENST00000287534.4_Silent_p.S2484S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2731	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGGATTTATCCAGGTCTACAG	0.418000													72	155					0	0	0.003610	0	0
LUZP2	338645	broad.mit.edu	37	11	24759789	24759789	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:24759789G>A	ENST00000533227.1	+	4	303	c.16G>A	c.(16-18)Gag>Aag	p.E6K	LUZP2_ENST00000336930.6_Missense_Mutation_p.E92K|LUZP2_ENST00000531187.1_3'UTR	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	92						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GTCTCTTCAGGAGGCCCTGCA	0.368000													27	24					0	0	0.002096	0	0
MACC1	346389	broad.mit.edu	37	7	20201451	20201451	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:20201451C>T	ENST00000400331.5	-	4	343	c.35G>A	c.(34-36)gGa>gAa	p.G12E	MACC1_ENST00000332878.4_Missense_Mutation_p.G12E|MACC1_ENST00000589011.1_Missense_Mutation_p.G12E	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	12					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGCAATTCTTCCTGACCGAAA	0.333000													107	121					0	0	0.003610	0	0
PSKH2	85481	broad.mit.edu	37	8	87076231	87076231	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:87076231C>T	ENST00000276616.2	-	2	889	c.815G>A	c.(814-816)aGg>aAg	p.R272K		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	272	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CAGAATCTTCCTGTAAAGCCT	0.413000													17	18					0	0	0.001882	0	0
EP400	57634	broad.mit.edu	37	12	132491260	132491260	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:132491260C>T	ENST00000333577.4	+	16	3359	c.3250C>T	c.(3250-3252)Cca>Tca	p.P1084S	EP400_ENST00000389561.2_Missense_Mutation_p.P1048S|EP400_ENST00000389562.2_Missense_Mutation_p.P1047S|EP400_ENST00000330386.6_Missense_Mutation_p.P1048S|EP400_ENST00000332482.4_Missense_Mutation_p.P1011S			Q96L91	EP400_HUMAN	E1A binding protein p400	1084	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTTTAATGCTCCATCTTTGTT	0.398000													16	25					0	0	0.004990	0	0
ASTN2	23245	broad.mit.edu	37	9	119188357	119188357	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:119188357G>A	ENST00000313400.4	-	23	3893	c.3793C>T	c.(3793-3795)Ctg>Ttg	p.L1265L	ASTN2_ENST00000288520.5_Silent_p.L366L|ASTN2_ENST00000341734.4_Silent_p.L317L|ASTN2_ENST00000361209.2_Silent_p.L1214L|ASTN2_ENST00000373996.3_Silent_p.L1261L|ASTN2_ENST00000361477.3_Silent_p.L317L			O75129	ASTN2_HUMAN	astrotactin 2	1265						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGTAGAATCAGGTGGGCCTTC	0.498000													20	3					0	0	0.003330	0	0
ZNF454	285676	broad.mit.edu	37	5	178392474	178392474	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:178392474G>A	ENST00000320129.3	+	5	1372	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	ZNF454_ENST00000519564.1_Missense_Mutation_p.E357K	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GAAACCCTTTGAATGTAATGA	0.393000													18	15					0	0	0.004990	0	0
MTUS2	23281	broad.mit.edu	37	13	29933550	29933550	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:29933550G>A	ENST00000431530.3	+	6	3145	c.3087G>A	c.(3085-3087)ctG>ctA	p.L1029L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1019	Localization to the growing distal tip of microtubules.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAGGGGAGCTGAAGAGGGCCA	0.627000													8	6					0	0	0.004482	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37507968	37507968	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:37507968G>A	ENST00000374660.1	+	40	3616	c.3517G>A	c.(3517-3519)Gaa>Aaa	p.E1173K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1054K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1054K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1142						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						GTTGAAAAAGGAAATTGCCAT	0.289000													22	19					0	0	0.010504	0	0
KAT2A	2648	broad.mit.edu	37	17	40271693	40271693	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:40271693G>A	ENST00000225916.5	-	5	796	c.743C>T	c.(742-744)cCc>cTc	p.P248L	CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.P282L	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	248					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCGCTCCCGGGGAGCCAGGTG	0.557000													15	10					0	0	0.006122	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960499	143960499	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:143960499G>A	ENST00000292427.4	-	2	376	c.344C>T	c.(343-345)cCc>cTc	p.P115L	CYP11B1_ENST00000517471.1_Missense_Mutation_p.P115L|CYP11B1_ENST00000377675.3_Missense_Mutation_p.P160L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	115					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGCCACCCAGGGCTCCAGGCT	0.617000									Familial Hyperaldosteronism type I				15	16					0	0	0.003163	0	0
ZNF827	152485	broad.mit.edu	37	4	146686844	146686844	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:146686844G>A	ENST00000508784.1	-	12	3134	c.2907C>T	c.(2905-2907)tcC>tcT	p.S969S	ZNF827_ENST00000513320.1_Silent_p.S619S|ZNF827_ENST00000379448.4_Silent_p.S969S			Q17R98	ZN827_HUMAN	zinc finger protein 827	969	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTGAGAGGGAGGATGAAGAGG	0.463000													42	51					0	0	0.003610	0	0
PSD4	23550	broad.mit.edu	37	2	113940135	113940135	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:113940135G>A	ENST00000245796.6	+	2	297	c.102G>A	c.(100-102)agG>agA	p.R34R	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Silent_p.R34R	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	34					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTGCCCAAGGGAAACGTGCA	0.587000													29	25					0	0	0.002836	0	0
INPPL1	3636	broad.mit.edu	37	11	71944134	71944134	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:71944134C>T	ENST00000541756.1	+	17	2171	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	INPPL1_ENST00000538751.1_Missense_Mutation_p.S414F|INPPL1_ENST00000298229.2_Missense_Mutation_p.S656F			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	656					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GAGGAGATCTCCTTCCCACCC	0.587000													10	9					0	0	0.000978	0	0
DDX51	317781	broad.mit.edu	37	12	132625406	132625406	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:132625406C>T	ENST00000397333.3	-	9	1448	c.1410G>A	c.(1408-1410)tcG>tcA	p.S470S		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	470					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CATACTTCCCCGAATCCCCGT	0.617000													26	32					0	0	0.008361	0	0
ZNF320	162967	broad.mit.edu	37	19	53385134	53385134	+	Missense_Mutation	SNP	A	A	G	rs138794752		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:53385134A>G	ENST00000595635.1	-	8	746	c.245T>C	c.(244-246)aTt>aCt	p.I82T	ZNF320_ENST00000391781.2_Missense_Mutation_p.I82T|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		AAATGCTCCAATGTGATAACT	0.413000													68	102					0	0	0.003610	0	0
MAPK1IP1L	93487	broad.mit.edu	37	14	55529629	55529629	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:55529629C>T	ENST00000395468.3	+	3	489	c.312C>T	c.(310-312)gcC>gcT	p.A104A	MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	104	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						CTTATCCAGCCCCAACTGTGC	0.617000													19	20					0	0	0.006122	0	0
FRMD4A	55691	broad.mit.edu	37	10	13698879	13698879	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:13698879G>A	ENST00000357447.2	-	22	3078	c.2710C>T	c.(2710-2712)Ctg>Ttg	p.L904L	FRMD4A_ENST00000378503.1_Silent_p.L904L|FRMD4A_ENST00000358621.4_Silent_p.L889L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	904						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGAGTCCGCAGGATCTGCGAT	0.746000													5	1					0	0	0.000602	0	0
SORCS3	22986	broad.mit.edu	37	10	106918692	106918692	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:106918692C>T	ENST00000369701.3	+	11	1899	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	558						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTCTGAAAATCCATATTCCTC	0.448000													26	39					0	0	0.009535	0	0
LAMB2	3913	broad.mit.edu	37	3	49162711	49162711	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:49162711G>A	ENST00000418109.1	-	20	2859	c.2695C>T	c.(2695-2697)Cac>Tac	p.H899Y	LAMB2_ENST00000464891.1_5'UTR|LAMB2_ENST00000305544.4_Missense_Mutation_p.H899Y	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	899	Laminin EGF-like 8.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCCCTGTGTGATCACGGCAG	0.592000													60	87					0	0	0.003610	0	0
ETNK1	55500	broad.mit.edu	37	12	22826574	22826574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:22826574C>T	ENST00000266517.4	+	6	1281	c.1192C>T	c.(1192-1194)Caa>Taa	p.Q398*		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	398					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACTCTTCATTCAAGTCAATCA	0.353000													25	21					0	0	0.003954	0	0
NHLRC3	387921	broad.mit.edu	37	13	39612779	39612779	+	Translation_Start_Site	SNP	G	G	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:39612779G>T	ENST00000379600.3	+	1	325	c.3G>T	c.(1-3)atG>atT	p.M1I	NHLRC3_ENST00000379599.2_Start_Codon_SNP_p.M1I|NHLRC3_ENST00000470258.1_Intron	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	1						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		GTCTGGTCATGGCGAGATTCT	0.582000													6	113					0.00116845	0.00205073	0.001168	1	0
HLA-DMB	3109	broad.mit.edu	37	6	32905036	32905036	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32905036G>A	ENST00000416244.2	-	3	729	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	HLA-DMB_ENST00000418107.2_Missense_Mutation_p.H179Y			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	179	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AAGGCTAAATGGGAGAGGGTC	0.562000													31	50					0	0	0.009535	0	0
ACP6	51205	broad.mit.edu	37	1	147131765	147131765	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:147131765C>T	ENST00000369238.5	-	2	792	c.345G>A	c.(343-345)ctG>ctA	p.L115L	ACP6_ENST00000392988.2_Silent_p.L115L	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	115					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TGCTCACCTTCAGGGTGGTCT	0.502000													125	2					0	0	0.003610	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764796	138764796	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:138764796G>A	ENST00000242351.5	-	4	1207	c.891C>T	c.(889-891)ttC>ttT	p.F297F	ZC3HAV1_ENST00000464606.1_Silent_p.F297F|ZC3HAV1_ENST00000471652.1_Silent_p.F297F	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	297					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCAGATACGTGAACTTGCGGG	0.597000													26	59					0	0	0.003330	0	0
CGREF1	10669	broad.mit.edu	37	2	27324350	27324350	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:27324350C>T	ENST00000402394.1	-	6	1017	c.749G>A	c.(748-750)gGa>gAa	p.G250E	CGREF1_ENST00000405600.1_Missense_Mutation_p.G250E|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.G372E|CGREF1_ENST00000312734.4_Missense_Mutation_p.G250E|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000402550.1_Intron	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	250					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGGCATCTCCTTCAGCCTC	0.706000													43	74					0	0	0.008740	0	0
F13B	2165	broad.mit.edu	37	1	197026252	197026252	+	Silent	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:197026252A>G	ENST00000367412.1	-	7	1105	c.1062T>C	c.(1060-1062)taT>taC	p.Y354Y		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	354	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CCCCATTGTAATAAATCTTAG	0.413000													103	3					0	0	0.003610	0	0
FAM135B	51059	broad.mit.edu	37	8	139145022	139145022	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:139145022C>T	ENST00000395297.1	-	20	4205	c.4035G>A	c.(4033-4035)atG>atA	p.M1345I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1345										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGTTGTTGATCATTTCTGCAT	0.502000										HNSCC(54;0.14)			67	94					0	0	0.003610	0	0
MYO7A	4647	broad.mit.edu	37	11	76893486	76893486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:76893486G>A	ENST00000409709.3	+	25	3398	c.3126G>A	c.(3124-3126)tgG>tgA	p.W1042*	MYO7A_ENST00000458637.2_Nonsense_Mutation_p.W1042*|MYO7A_ENST00000409893.1_Nonsense_Mutation_p.W1042*|MYO7A_ENST00000409619.2_Nonsense_Mutation_p.W1031*	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1042	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGGCGGTCTGGATCACCATCC	0.582000													10	16					0	0	0.001368	0	0
ANO4	121601	broad.mit.edu	37	12	101295595	101295595	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:101295595G>A	ENST00000392979.3	+	2	393	c.32G>A	c.(31-33)gGa>gAa	p.G11E	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.G11E|ANO4_ENST00000538618.1_Missense_Mutation_p.G177E	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	11						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATCACTAATGGAAAAACCAAA	0.493000										HNSCC(74;0.22)			27	65					0	0	0.006320	0	0
TAF1L	138474	broad.mit.edu	37	9	32635000	32635000	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:32635000G>A	ENST00000242310.4	-	1	667	c.578C>T	c.(577-579)tCc>tTc	p.S193F	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	193					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGCCAAAAAGGAAGGGGCAAT	0.478000													26	32					0	0	0.005443	0	0
TACR2	6865	broad.mit.edu	37	10	71164841	71164841	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:71164841C>T	ENST00000373306.4	-	5	1482		c.e5-1		TACR2_ENST00000373307.1_Splice_Site	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2						excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	AGAGCGAAACCTGGGGGAGCG	0.622000													16	18					0	0	0.004990	0	0
HEPHL1	341208	broad.mit.edu	37	11	93754684	93754684	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:93754684G>A	ENST00000315765.9	+	1	158	c.150G>A	c.(148-150)ggG>ggA	p.G50G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	50	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTATTACTGGGAAAAGTTTCA	0.453000													48	3					0	0	0.003610	0	0
EVPL	2125	broad.mit.edu	37	17	74004689	74004689	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:74004689C>T	ENST00000301607.3	-	22	4850	c.4597G>A	c.(4597-4599)Gaa>Aaa	p.E1533K	EVPL_ENST00000586740.1_Missense_Mutation_p.E1555K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1533	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGCTCATCTTCCAGGACGCGG	0.642000													23	18					0	0	0.002299	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995048	140995048	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:140995048G>A	ENST00000285879.4	+	4	2144	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	620							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGGGGAGGAATTCCAGTC	0.562000										HNSCC(15;0.026)			130	260					0	0	0.003610	0	0
ARMC4	55130	broad.mit.edu	37	10	28225794	28225794	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:28225794C>T	ENST00000305242.5	-	15	2205	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	ARMC4_ENST00000545014.1_Missense_Mutation_p.E230K|ARMC4_ENST00000537576.1_Missense_Mutation_p.E397K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	705							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCCGGGTTTCCTTATCTTCA	0.488000													21	25					0	0	0.010504	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735759	55735759	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:55735759C>T	ENST00000312345.2	-	1	231	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TAACAGATTTCCAAAAGGGAA	0.353000													34	42					0	0	0.005524	0	0
VPS18	57617	broad.mit.edu	37	15	41192240	41192240	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:41192240C>T	ENST00000220509.5	+	4	1563	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	408					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGAACCGCTTCGATCTGGCCA	0.632000													53	51					0	0	0.003610	0	0
ABCC12	94160	broad.mit.edu	37	16	48167670	48167670	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:48167670G>A	ENST00000311303.3	-	7	1401	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	ABCC12_ENST00000448542.1_Silent_p.I352I|ABCC12_ENST00000416054.1_Silent_p.I352I	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	352	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGGTGGACACGATGGGGGCCA	0.502000													20	35					0	0	0.007413	0	0
DNAH10	196385	broad.mit.edu	37	12	124323164	124323164	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:124323164C>T	ENST00000409039.3	+	28	4735	c.4710C>T	c.(4708-4710)ttC>ttT	p.F1570F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1570	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGTTCTTCTTCATTTCTGACG	0.527000													47	52					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168105205	168105205	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:168105205G>A	ENST00000409195.1	+	9	7392	c.7303G>A	c.(7303-7305)Gat>Aat	p.D2435N	XIRP2_ENST00000409273.1_Missense_Mutation_p.D2213N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2435N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2260					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCATATAAAAGATAATAAGAA	0.403000													50	55					0	0	0.003610	0	0
FMN2	56776	broad.mit.edu	37	1	240371124	240371124	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:240371124C>T	ENST00000319653.9	+	5	3242	c.3012C>T	c.(3010-3012)ccC>ccT	p.P1004P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1004	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCACTTCCCGGAGCGGGCA	0.721000													18	37					0	0	0.004656	0	0
SLC28A2	9153	broad.mit.edu	37	15	45559899	45559899	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:45559899G>A	ENST00000347644.3	+	12	1169	c.1104G>A	c.(1102-1104)atG>atA	p.M368I	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	368					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CCTCTGTGATGGCCGCCCCTT	0.552000													52	62					0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10307703	10307703	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:10307703C>T	ENST00000403437.2	-	22	2726	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	878					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			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						ACCATTTTTTCCTCTAGCTCC	0.433000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				23	37					0	0	0.002299	0	0
OR2A2	442361	broad.mit.edu	37	7	143807322	143807322	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:143807322C>T	ENST00000408979.2	+	1	716	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATTCTGGTCTCCTACATGCAC	0.537000													102	59					0	0	0.003610	0	0
NUP210	23225	broad.mit.edu	37	3	13363284	13363284	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:13363284T>G	ENST00000254508.5	-	36	5049	c.4967A>C	c.(4966-4968)aAg>aCg	p.K1656T		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1656					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)					GCTCAGGTGCTTCCGCTGCTT	0.592000													97	94					0	0	0.003610	0	0
FAM135B	51059	broad.mit.edu	37	8	139164331	139164331	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:139164331G>T	ENST00000395297.1	-	13	2557	c.2387C>A	c.(2386-2388)gCt>gAt	p.A796D		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	796										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAAGGTTCAGCAAAACCTCC	0.522000										HNSCC(54;0.14)			23	28					1.64293e-13	2.89925e-13	0.003330	1	0
NTN4	59277	broad.mit.edu	37	12	96106999	96106999	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:96106999C>T	ENST00000343702.4	-	4	1430	c.982G>A	c.(982-984)Gag>Aag	p.E328K	NTN4_ENST00000344911.4_Missense_Mutation_p.E291K|NTN4_ENST00000538383.1_Missense_Mutation_p.E291K|NTN4_ENST00000553059.1_Missense_Mutation_p.E328K	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	328	Laminin EGF-like 1.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTTCTGCACTCGTTGGGAGCC	0.502000													19	22					0	0	0.008871	0	0
PTPRS	5802	broad.mit.edu	37	19	5244245	5244245	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:5244245G>A	ENST00000372412.4	-	11	1473	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	PTPRS_ENST00000592099.1_Missense_Mutation_p.P400S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.P400S|PTPRS_ENST00000588012.1_Missense_Mutation_p.P400S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P400S|PTPRS_ENST00000587303.1_Missense_Mutation_p.P413S|PTPRS_ENST00000357368.4_Missense_Mutation_p.P413S|PTPRS_ENST00000262963.6_Missense_Mutation_p.P409S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	413	Fibronectin type-III 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GACTCGCTGGGGGGCCCCTGG	0.677000													18	22					0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9074547	9074547	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9074547T>A	ENST00000397910.4	-	3	13102	c.12899A>T	c.(12898-12900)gAg>gTg	p.E4300V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4302	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						GGACACTGTCTCAATCTCTGT	0.512000													17	25					0	0	0.004990	0	0
DKC1	1736	broad.mit.edu	37	X	153997502	153997502	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:153997502G>A	ENST00000369550.5	+	9	1042	c.832G>A	c.(832-834)Gat>Aat	p.D278N	DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	278					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAACCACAAGGATGAGAGTTA	0.433000									Congenital Dyskeratosis				78	173					0	0	0.003610	0	0
AKR1C4	1109	broad.mit.edu	37	10	5248263	5248263	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:5248263G>A	ENST00000380448.1	+	7	726	c.473G>A	c.(472-474)gGa>gAa	p.G158E	AKR1C4_ENST00000263126.1_Missense_Mutation_p.G158E			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	158					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	AAGGATGCAGGATTGGCCAAG	0.488000													38	36					0	0	0.004878	0	0
VRTN	55237	broad.mit.edu	37	14	74825517	74825517	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:74825517C>T	ENST00000256362.4	+	2	2272	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	677					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TCAGTGCCCTCTTTCCCCTCA	0.562000													24	29					0	0	0.007291	0	0
RAB3C	115827	broad.mit.edu	37	5	58120906	58120906	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:58120906T>G	ENST00000282878.4	+	4	582	c.413T>G	c.(412-414)gTt>gGt	p.V138G		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	138					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AATGCCCAAGTTATTCTGGTT	0.398000													30	22					0	0	0.002096	0	0
CLPB	81570	broad.mit.edu	37	11	72012885	72012885	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:72012885G>A	ENST00000294053.3	-	12	1554	c.1381C>T	c.(1381-1383)Cca>Tca	p.P461S	CLPB_ENST00000543042.1_Missense_Mutation_p.P260S|CLPB_ENST00000538039.1_Missense_Mutation_p.P431S|CLPB_ENST00000437826.2_Missense_Mutation_p.P416S|CLPB_ENST00000538021.1_Missense_Mutation_p.P69S|CLPB_ENST00000340729.5_Missense_Mutation_p.P402S	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	461					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						AGCACATCTGGATGGGCCTTG	0.562000													205	235					0	0	0.003610	0	0
MT1JP	4498	broad.mit.edu	37	16	56669797	56669797	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:56669797C>T	ENST00000564564.1	+	0	123																											ATTCCCATTTCCCAGCCCCAG	0.547000													19	21					0	0	0.001882	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640632	99640632	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:99640632G>A	ENST00000547776.2	-	13	1766	c.1767C>T	c.(1765-1767)tcC>tcT	p.S589S	ANKS1B_ENST00000329257.7_Silent_p.S589S|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Silent_p.S169S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	589						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CATCCTGTCGGGAGAGGTCAT	0.478000													75	90					0	0	0.003610	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206592	142206592	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:142206592G>A	ENST00000426318.2	-	0	313																											CTCTGTCTTGGATCTGGAGAC	0.527000													87	60					0	0	0.003610	0	0
TLR4	7099	broad.mit.edu	37	9	120476810	120476810	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:120476810C>T	ENST00000355622.6	+	3	2505	c.2404C>T	c.(2404-2406)Ctg>Ttg	p.L802L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L762L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	802	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GGACAGTGTCCTGGGGCGGCA	0.552000													48	8					0	0	0.003610	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555733	125555733	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:125555733C>T	ENST00000431078.1	+	19	3414	c.3050C>T	c.(3049-3051)cCt>cTt	p.P1017L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1017	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.P1017H(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAACCCTATCCTGTGACCAAG	0.443000													13	13					0	0	0.004990	0	0
RYR2	6262	broad.mit.edu	37	1	237995876	237995876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:237995876C>T	ENST00000366574.2	+	105	15150	c.14833C>T	c.(14833-14835)Caa>Taa	p.Q4945*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.Q4951*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.Q4929*|RYR2_ENST00000462585.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4945					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGATGTATCAAGAAAGGTG	0.383000													47	4					0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176708800	176708800	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:176708800T>A	ENST00000367662.3	+	13	5001	c.3837T>A	c.(3835-3837)ttT>ttA	p.F1279L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1279					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGCAATTTTTATTTTTTTGA	0.443000													39	125					0	0	0.002522	0	0
FCRL6	343413	broad.mit.edu	37	1	159778147	159778147	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:159778147C>T	ENST00000321935.6	+	4	339	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	FCRL6_ENST00000368106.3_Missense_Mutation_p.R78C|FCRL6_ENST00000339348.5_Missense_Mutation_p.R78C|FCRL6_ENST00000392235.3_Missense_Mutation_p.R78C			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	78	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGTGCAGAGCCGTGGCCAGTA	0.488000													59	1					0	0	0.003610	0	0
UNC5C	8633	broad.mit.edu	37	4	96140146	96140146	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:96140146C>T	ENST00000453304.1	-	9	1967	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E	UNC5C_ENST00000506749.1_Missense_Mutation_p.G559E	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	540	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAGGTGACCTCCCAGCGAGTT	0.443000													33	44					0	0	0.004878	0	0
RELN	5649	broad.mit.edu	37	7	103294586	103294586	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:103294586C>T	ENST00000424685.2	-	13	1667	c.1508G>A	c.(1507-1509)aGa>aAa	p.R503K	RELN_ENST00000428762.1_Missense_Mutation_p.R503K|RELN_ENST00000343529.5_Missense_Mutation_p.R503K			P78509	RELN_HUMAN	reelin	503					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGCTCTTTTCTTCCTTCAAT	0.398000													53	40					0	0	0.003610	0	0
IGHG3	3502	broad.mit.edu	37	14	106236259	106236259	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:106236259C>T	ENST00000390551.2	-	0	544																											TCCGGGAAATCATAAGGGTAT	0.592000													30	40					0	0	0.007291	0	0
ANKS1B	56899	broad.mit.edu	37	12	99145169	99145169	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:99145169G>A	ENST00000547776.2	-	25	3635	c.3636C>T	c.(3634-3636)ccC>ccT	p.P1212P	ANKS1B_ENST00000341752.7_Silent_p.P218P|ANKS1B_ENST00000329257.7_Silent_p.P1212P|ANKS1B_ENST00000549558.2_Silent_p.P378P|ANKS1B_ENST00000546960.1_Silent_p.P438P|ANKS1B_ENST00000549025.2_Silent_p.P310P|ANKS1B_ENST00000333732.7_Silent_p.P242P|ANKS1B_ENST00000549493.2_Silent_p.P462P|ANKS1B_ENST00000547446.1_Silent_p.P347P|ANKS1B_ENST00000332712.7_Silent_p.P402P|ANKS1B_ENST00000550693.2_Silent_p.P402P|ANKS1B_ENST00000546568.1_Silent_p.P378P|ANKS1B_ENST00000547010.1_Silent_p.P728P	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1212	PID.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GCTTGGGGATGGGTTTGGAGG	0.488000													24	22					0	0	0.003330	0	0
OR1L3	26735	broad.mit.edu	37	9	125437934	125437934	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:125437934C>T	ENST00000304820.2	+	1	620	c.526C>T	c.(526-528)Cat>Tat	p.H176Y		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TGTTATCCATCATTTTTTTTG	0.463000													89	12					0	0	0.003610	0	0
KCNAB1	7881	broad.mit.edu	37	3	156183475	156183475	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:156183475G>A	ENST00000302490.8	+	7	1388	c.517_splice	c.e7+1	p.G173_splice	KCNAB1_ENST00000471742.1_Splice_Site_p.G180_splice|KCNAB1_ENST00000389636.5_Splice_Site_p.E191_splice|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000490337.1_Splice_Site_p.G191_splice|KCNAB1_ENST00000389634.5_Splice_Site_p.E173_splice	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	191						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TATTATTGAAGGTGGGTACTT	0.378000													18	27					0	0	0.007413	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735962	12735962	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:12735962C>T	ENST00000380682.1	+	16	3523	c.3017C>T	c.(3016-3018)tCg>tTg	p.S1006L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1006					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGACTAAGTCGGTCACTGAC	0.537000													68	66					0	0	0.003610	0	0
OR5I1	10798	broad.mit.edu	37	11	55703181	55703181	+	Silent	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:55703181A>G	ENST00000301532.3	-	1	695	c.696T>C	c.(694-696)tcT>tcC	p.S232S		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCCCACTGAAAGAGCGGATCT	0.458000													6	7					0	0	0.001168	0	0
SUN5	140732	broad.mit.edu	37	20	31577467	31577467	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:31577467C>T	ENST00000356173.3	-	9	664	c.572G>A	c.(571-573)gGa>gAa	p.G191E	SUN5_ENST00000375523.3_Missense_Mutation_p.G166E	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	191					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GATGTAATCTCCGTGTATCAT	0.488000													22	35					0	0	0.005443	0	0
ASPN	54829	broad.mit.edu	37	9	95227269	95227269	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:95227269C>T	ENST00000375544.3	-	5	887	c.644G>A	c.(643-645)gGg>gAg	p.G215E	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Missense_Mutation_p.G215E|ASPN_ENST00000395538.3_Missense_Mutation_p.G215E	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	215					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TTCAAATGCCCCTGGCTCTAT	0.398000													83	9					0	0	0.003610	0	0
CPNE9	151835	broad.mit.edu	37	3	9754705	9754705	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:9754705C>T	ENST00000383832.3	+	10	782	c.592C>T	c.(592-594)Cct>Tct	p.P198S	CPNE9_ENST00000383831.3_Missense_Mutation_p.P198S	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	198	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CACGCTGAATCCTGTGTGGCA	0.532000													18	24					0	0	0.007413	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038149	16038149	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:16038149C>T	ENST00000326742.7	-	4	399	c.397_splice	c.e4-1	p.G133_splice	CYP4F11_ENST00000248041.7_Splice_Site_p.G133_splice|CYP4F11_ENST00000402119.3_Splice_Site_p.G133_splice			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	133					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GAGCCCATCCCCTGGCAGGGC	0.552000													53	61					0	0	0.003610	0	0
POTEG	404785	broad.mit.edu	37	14	19573109	19573109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:19573109C>T	ENST00000409832.3	+	8	1259	c.1207C>T	c.(1207-1209)Caa>Taa	p.Q403*		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	403										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGAAATGTCTCAAGAACCAGA	0.294000													15	126					0	0	0.002780	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92706011	92706011	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:92706011C>T	ENST00000318445.6	+	10	1993	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	SLCO3A1_ENST00000555549.1_3'UTR|RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000424469.2_Silent_p.F593F	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	593					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CCCTCATCTTCGGGGCTGGCA	0.567000													33	30					0	0	0.003755	0	0
GATM	2628	broad.mit.edu	37	15	45656084	45656084	+	Silent	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:45656084T>C	ENST00000558336.1	-	8	1266	c.1173A>G	c.(1171-1173)aaA>aaG	p.K391K	GATM_ENST00000396659.3_Intron			P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	0					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	ACATGTTTCATTTGTTGTACA	0.318000													14	19					0	0	0.003163	0	0
AHNAK	79026	broad.mit.edu	37	11	62285540	62285540	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:62285540G>A	ENST00000378024.4	-	5	16623	c.16349C>T	c.(16348-16350)cCg>cTg	p.P5450L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5450					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCACATTCGGTGCTGAAAT	0.562000													33	50					0	0	0.002836	0	0
RPL32P3	132241	broad.mit.edu	37	3	129115991	129115991	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:129115991G>A	ENST00000514355.1	-	0	412																				lung(1)	1						TGCCTTTTGGGGAAGAAGTAG	0.532000													66	71					0	0	0.003610	0	0
GPRIN1	114787	broad.mit.edu	37	5	176024822	176024822	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:176024822G>A	ENST00000303991.4	-	2	2191	c.2014C>T	c.(2014-2016)Cct>Tct	p.P672S		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	672						growth cone|plasma membrane				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)			CAGGATCCAGGATCCACCTTC	0.587000													14	18					0	0	0.001855	0	0
TEX261	113419	broad.mit.edu	37	2	71216111	71216111	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:71216111G>A	ENST00000606025.1	-	5	987	c.409C>T	c.(409-411)Ccg>Tcg	p.P137S	TEX261_ENST00000466731.1_5'UTR|TEX261_ENST00000272438.4_Missense_Mutation_p.P137S																							AACGCAAACGGAATTATCCAC	0.577000													10	14					0	0	0.001368	0	0
GRIA4	2893	broad.mit.edu	37	11	105804641	105804641	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:105804641G>A	ENST00000393127.2	+	14	2686	c.2240G>A	c.(2239-2241)gGa>gAa	p.G747E	GRIA4_ENST00000282499.5_Missense_Mutation_p.G747E|GRIA4_ENST00000525187.1_Missense_Mutation_p.G747E|GRIA4_ENST00000530497.1_Missense_Mutation_p.G747E	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	747					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AAAGTGGGAGGAAATCTGGAT	0.438000													15	5					0	0	0.004007	0	0
CCDC39	339829	broad.mit.edu	37	3	180349328	180349328	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:180349328C>T	ENST00000273654.4	-	20	2798	c.2179G>A	c.(2179-2181)Gaa>Aaa	p.E727K	CCDC39_ENST00000442201.2_Missense_Mutation_p.E643K			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	643					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTCAGAATTTCATATCTATTC	0.343000													29	38					0	0	0.007291	0	0
CDH13	1012	broad.mit.edu	37	16	83251023	83251023	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:83251023G>A	ENST00000566620.1	+	5	847	c.557G>A	c.(556-558)gGa>gAa	p.G186E	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.G233E|CDH13_ENST00000428848.3_Missense_Mutation_p.G147E	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	186	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GAGCCTAAAGGAATTTTCAGA	0.478000													24	32					0	0	0.003330	0	0
DUOXA2	405753	broad.mit.edu	37	15	45408347	45408347	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:45408347C>T	ENST00000323030.5	+	3	516	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	77					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CAGAATGGTTCGTGGGTACAG	0.552000													62	65					0	0	0.003610	0	0
ABCB1	5243	broad.mit.edu	37	7	87175237	87175237	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:87175237C>T	ENST00000265724.3	-	16	2246	c.1829G>A	c.(1828-1830)gGa>gAa	p.G610E	ABCB1_ENST00000543898.1_Missense_Mutation_p.G546E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	610	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATCATGATTTCCTTTCTCCAC	0.398000													30	71					0	0	0.008361	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102526558	102526558	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:102526558C>T	ENST00000321521.9	+	28	3878	c.3305C>T	c.(3304-3306)tCc>tTc	p.S1102F	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.S1123F|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S1102F			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1123					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAATTGTATTCCATGGTGCCA	0.328000													15	34					0	0	0.004007	0	0
LCE1F	353137	broad.mit.edu	37	1	152748928	152748928	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:152748928G>A	ENST00000334371.2	+	1	81	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	27	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gccccacaccgaagtgccccc	0.657000													80	3					0	0	0.003610	0	0
ZNF490	57474	broad.mit.edu	37	19	12692182	12692182	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:12692182G>A	ENST00000311437.6	-	5	829	c.707C>T	c.(706-708)tCc>tTc	p.S236F		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						GTTTCGAAAGGAAAAGAGAAA	0.433000													21	23					0	0	0.010504	0	0
GPR63	81491	broad.mit.edu	37	6	97246852	97246852	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:97246852G>A	ENST00000229955.3	-	2	1101	c.756C>T	c.(754-756)ttC>ttT	p.F252F	GPR63_ENST00000417980.1_Silent_p.F252F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	252						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GGAAGGGTATGAAGAAAGAAA	0.463000													35	0					0	0	0.005524	0	0
PRR23C	389152	broad.mit.edu	37	3	138762818	138762818	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:138762818G>A	ENST00000413199.1	-	1	916	c.645C>T	c.(643-645)ttC>ttT	p.F215F	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.F215F	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	215	Pro-rich.									breast(2)|lung(7)|skin(2)	11						ATTCCAGGTCGAAGATGGGGC	0.647000													6	6					0	0	0.001984	0	0
EPHA6	285220	broad.mit.edu	37	3	96706553	96706553	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:96706553G>A	ENST00000389672.5	+	3	868	c.830G>A	c.(829-831)gGa>gAa	p.G277E	EPHA6_ENST00000470610.2_Missense_Mutation_p.G277E|EPHA6_ENST00000542517.1_Missense_Mutation_p.G183E	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	182						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAAAGGAAAGGATTTTATCTG	0.458000													93	143					0	0	0.003610	0	0
TEKT5	146279	broad.mit.edu	37	16	10729726	10729726	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:10729726C>T	ENST00000283025.2	-	6	1207	c.1136G>A	c.(1135-1137)aGg>aAg	p.R379K	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	379					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CATGATGGACCTTTCCAGCAG	0.637000													68	82					0	0	0.003610	0	0
TENM1	10178	broad.mit.edu	37	X	123871003	123871003	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:123871003G>A	ENST00000422452.2	-	4	643	c.580C>T	c.(580-582)Cca>Tca	p.P194S	TENM1_ENST00000371130.3_Missense_Mutation_p.P194S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GGTGGCGGTGGGAGGGGTCTG	0.567000													41	13					0	0	0.006230	0	0
FAM47A	158724	broad.mit.edu	37	X	34150189	34150189	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:34150189G>A	ENST00000346193.3	-	1	258	c.207C>T	c.(205-207)ctC>ctT	p.L69L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	69										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCGACAAACGAGAGTATCTT	0.562000													32	45					0	0	0.003271	0	0
CSMD2	114784	broad.mit.edu	37	1	33985159	33985159	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:33985159C>T	ENST00000373381.4	-	70	11031	c.10855G>A	c.(10855-10857)Gag>Aag	p.E3619K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3475						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AACTCCGCCTCGCTGGCCATG	0.612000													177	8					0	0	0.003610	0	0
OR52M1	119772	broad.mit.edu	37	11	4566853	4566853	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:4566853C>T	ENST00000360213.1	+	1	433	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R145G(1)		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)		AGTGGTGGGTCGTTTGGGGCT	0.522000													19	31					0	0	0.008871	0	0
GPR176	11245	broad.mit.edu	37	15	40093680	40093680	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:40093680G>T	ENST00000299092.3	-	4	1396	c.1198C>A	c.(1198-1200)Cag>Aag	p.Q400K	GPR176_ENST00000561100.1_Missense_Mutation_p.Q401K|GPR176_ENST00000543580.1_Missense_Mutation_p.Q356K	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	401					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TCCTTGGCCTGGAAGTCAGCT	0.572000													6	171					0.00307968	0.00539779	0.003080	1	0
IGSF21	84966	broad.mit.edu	37	1	18692055	18692055	+	Silent	SNP	G	G	A	rs35594539		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:18692055G>A	ENST00000251296.1	+	6	1262	c.879G>A	c.(877-879)ccG>ccA	p.P293P		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	293						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCCGCACCCCGAGCAGTGACG	0.632000													54	7					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179585251	179585251	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179585251C>T	ENST00000589042.1	-	80	23462	c.23238G>A	c.(23236-23238)aaG>aaA	p.K7746K	TTN_ENST00000342992.6_Silent_p.K6502K|TTN_ENST00000591111.1_Silent_p.K7429K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7429	Ig-like 59.						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)			TTTTAAATTTCTTGCTGTTTC	0.378000													20	14					0	0	0.008871	0	0
ALKBH8	91801	broad.mit.edu	37	11	107431577	107431577	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:107431577C>T	ENST00000428149.2	-	2	194	c.43G>A	c.(43-45)Gag>Aag	p.E15K	ALKBH8_ENST00000429370.1_Missense_Mutation_p.E15K|ALKBH8_ENST00000417449.2_Missense_Mutation_p.E18K|ALKBH8_ENST00000389568.3_Missense_Mutation_p.E15K|ALKBH8_ENST00000530933.1_5'UTR	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	15					response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AACTTCTTCTCAGTTTTACTG	0.373000													19	1					0	0	0.007413	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:16279248C>T	ENST00000343518.6	-	4	1026	c.975G>A	c.(973-975)gtG>gtA	p.V325V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000													60	478					0	0	0.003610	0	0
LILRP2	79166	broad.mit.edu	37	19	55221911	55221911	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:55221911C>T	ENST00000413439.1	+	0	1438																											GCAGACCCTCCCTCTCGGTGC	0.637000													19	20					0	0	0.010504	0	0
SGIP1	84251	broad.mit.edu	37	1	67147816	67147816	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:67147816C>T	ENST00000371037.4	+	15	1156	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P364L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	360	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCCACAGGCCCCCCAGGGCCT	0.572000													156	11					0	0	0.003610	0	0
WT1-AS	51352	broad.mit.edu	37	11	32460426	32460426	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:32460426G>A	ENST00000395900.1	+	0	1304				WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000442957.1_RNA	NR_023920.1															endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						AGAGCTAATGGGATGCAGAGG	0.537000													7	16					0	0	0.003080	0	0
BSN	8927	broad.mit.edu	37	3	49662657	49662657	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:49662657C>T	ENST00000296452.4	+	2	588	c.474C>T	c.(472-474)gtC>gtT	p.V158V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	158					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTACTCCGTCCCTCAGATCG	0.637000													23	22					0	0	0.003954	0	0
SYN2	6854	broad.mit.edu	37	3	12183413	12183413	+	RNA	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:12183413T>A	ENST00000432424.2	+	0	616							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGGCAGAATTTTCAGAGCTCA	0.473000													204	241					0	0	0.003610	0	0
DACT3	147906	broad.mit.edu	37	19	47151904	47151904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:47151904C>T	ENST00000391916.2	-	4	1798	c.1725G>A	c.(1723-1725)tgG>tgA	p.W575*	DACT3_ENST00000300875.4_Nonsense_Mutation_p.W350*	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	575										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		GCTGCTGCGGCCACACGAGGC	0.692000													33	29					0	0	0.009535	0	0
SLC38A10	124565	broad.mit.edu	37	17	79225152	79225152	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:79225152G>A	ENST00000288439.5	-	14	2551	c.2206C>T	c.(2206-2208)Cct>Tct	p.P736S	SLC38A10_ENST00000374759.3_Intron	NM_138570.2	NP_612637.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	0					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTCTCCGAGGGGTCTGCTCA	0.627000													17	31					0	0	0.006122	0	0
KRT1	3848	broad.mit.edu	37	12	53072416	53072416	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:53072416C>T	ENST00000252244.3	-	2	774	c.716G>A	c.(715-717)cGa>cAa	p.R239Q		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	239	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CACTCTCCTTCGGAGATTGTT	0.473000													50	70					0	0	0.003610	0	0
HS2ST1	9653	broad.mit.edu	37	1	87570169	87570169	+	Silent	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:87570169T>C	ENST00000370550.5	+	7	1224	c.861T>C	c.(859-861)ctT>ctC	p.L287L	RP5-1052I5.2_ENST00000370548.2_Intron|HS2ST1_ENST00000356813.4_Intron	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	287						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		AATCTCATCTTAGGAAAACCA	0.353000													64	4					0	0	0.003610	0	0
IGLV4-3	28786	broad.mit.edu	37	22	23214093	23214093	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:23214093C>T	ENST00000390318.2	+	0	282																											GATCCCCGATCGCTTCATGGG	0.557000													51	69					0	0	0.003610	0	0
DSC2	1824	broad.mit.edu	37	18	28648096	28648096	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:28648096G>A	ENST00000280904.6	-	16	3034	c.2591C>T	c.(2590-2592)tCg>tTg	p.S864L	DSC2_ENST00000251081.6_3'UTR	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	864					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCCAGCCACCGATCCTCTTCC	0.423000													28	46					0	0	0.005443	0	0
AGBL2	79841	broad.mit.edu	37	11	47689234	47689234	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:47689234C>T	ENST00000525123.1	-	16	2514	c.2229G>A	c.(2227-2229)aaG>aaA	p.K743K	AGBL2_ENST00000298861.4_Silent_p.K743K|AGBL2_ENST00000357610.3_Silent_p.K745K|AGBL2_ENST00000528244.1_Silent_p.K705K	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	743					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TAAACATCTTCTTTTTCTGAG	0.378000													25	33					0	0	0.003954	0	0
ARID1B	57492	broad.mit.edu	37	6	157528792	157528792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:157528792C>T	ENST00000346085.5	+	20	6518	c.6517C>T	c.(6517-6519)Cag>Tag	p.Q2173*	ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q2213*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q2155*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q2160*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2160					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCCCAGTACCAGCAGAGCCA	0.582000													23	5					0	0	0.002780	0	0
ELOVL6	79071	broad.mit.edu	37	4	110972566	110972566	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:110972566G>A	ENST00000394607.3	-	5	889	c.726C>T	c.(724-726)taC>taT	p.Y242Y	ELOVL6_ENST00000302274.3_Silent_p.Y242Y			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	242					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		AGAGCACAAGGTAGCTGAGGT	0.473000													46	61					0	0	0.003610	0	0
COPZ2	51226	broad.mit.edu	37	17	46109536	46109536	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:46109536C>T	ENST00000006101.4	-	7	473	c.474G>A	c.(472-474)gaG>gaA	p.E158E	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	160					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat				lung(3)|upper_aerodigestive_tract(1)	4						CATCCACAATCTCGTCCAGCA	0.577000													10	8					0	0	0.000978	0	0
CEL	1056	broad.mit.edu	37	9	135942235	135942235	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:135942235C>T	ENST00000372080.4	+	6	705	c.689C>T	c.(688-690)cCc>cTc	p.P230L	CEL_ENST00000351304.7_Missense_Mutation_p.P227L	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	227					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ACCCTCTCCCCCTACAACAAG	0.637000													29	5					0	0	0.009535	0	0
C2orf71	388939	broad.mit.edu	37	2	29295609	29295609	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:29295609C>T	ENST00000331664.5	-	1	1518	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	507					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGAGTTTTTTCCTGCCAGGCA	0.562000													51	67					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13841099	13841099	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:13841099C>T	ENST00000265104.4	-	34	5729	c.5625G>A	c.(5623-5625)acG>acA	p.T1875T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1875	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGATCCCTCGTGGTGACGT	0.393000									Kartagener syndrome				26	42					0	0	0.006320	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62851980	62851980	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:62851980C>T	ENST00000584306.1	-	13	5367	c.4837G>A	c.(4837-4839)Gaa>Aaa	p.E1613K	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E1613K|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.E731K|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.E590K|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.E651K	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1613						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCTTCATCTTCTTGTAATGAC	0.368000													42	58					0	0	0.003610	0	0
AMFR	267	broad.mit.edu	37	16	56423200	56423200	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:56423200C>T	ENST00000290649.5	-	9	1383	c.1173G>A	c.(1171-1173)agG>agA	p.R391R		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	391					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GATGTTCTTCCCTGACACGAT	0.458000													35	48					0	0	0.005524	0	0
RASAL1	8437	broad.mit.edu	37	12	113553507	113553507	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:113553507G>A	ENST00000546530.1	-	11	1221	c.936C>T	c.(934-936)ctC>ctT	p.L312L	RASAL1_ENST00000548055.1_Silent_p.L312L|RASAL1_ENST00000446861.3_Silent_p.L312L|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Silent_p.L312L	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	312	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGCCAAGAAAGAGTTTCACCA	0.647000													16	22					0	0	0.006122	0	0
NPIPB15	440348	broad.mit.edu	37	16	74419270	74419270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:74419270C>T	ENST00000429990.1	+	3	376	c.280C>T	c.(280-282)Cga>Tga	p.R94*						nuclear pore complex interacting protein family, member B15																		CTTCTGGTCTCGAAATGGACA	0.473000													32	228					0	0	0.003610	0	0
PTPRE	5791	broad.mit.edu	37	10	129866536	129866536	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:129866536C>T	ENST00000254667.3	+	12	1272	c.993C>T	c.(991-993)atC>atT	p.I331I	PTPRE_ENST00000306042.5_Silent_p.I273I|PTPRE_ENST00000419012.2_Silent_p.I331I	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	331	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CTGGGCCCATCGTGGTCCACT	0.612000													20	23					0	0	0.002299	0	0
PRPS2	5634	broad.mit.edu	37	X	12827410	12827410	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:12827410G>A	ENST00000380668.5	+	3	492	c.364G>A	c.(364-366)Gat>Aat	p.D122N	PRPS2_ENST00000398491.2_Missense_Mutation_p.D125N|PRPS2_ENST00000489404.1_Missense_Mutation_p.D122N	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	122					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GGCTGGGGCGGATCACATCAT	0.398000													59	75					0	0	0.003610	0	0
UNC79	57578	broad.mit.edu	37	14	94007029	94007029	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:94007029A>G	ENST00000553484.1	+	13	1530	c.1376A>G	c.(1375-1377)cAt>cGt	p.H459R	UNC79_ENST00000393151.2_Missense_Mutation_p.H459R|UNC79_ENST00000256339.4_Missense_Mutation_p.H282R|UNC79_ENST00000555664.1_Missense_Mutation_p.H459R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	459						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCCGAGTTCCATGCTGAGCAG	0.488000													34	35					0	0	0.006999	0	0
CLDN10	9071	broad.mit.edu	37	13	96205164	96205164	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:96205164T>G	ENST00000299339.2	+	1	186	c.157T>G	c.(157-159)Tgc>Ggc	p.C53G	CLDN10_ENST00000376873.3_Intron	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	53					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GTGGAAGGCGTGCGTTACCGA	0.647000													19	15					0	0	0.002780	0	0
TPTE	7179	broad.mit.edu	37	21	10910308	10910308	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:10910308G>A	ENST00000298232.7	-	21	1761	c.1395_splice	c.e21+1	p.S465_splice	TPTE_ENST00000361285.4_Splice_Site_p.S483_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S445_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	483	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTACTCACCGAATAGAAAAA	0.373000													16	122					0	0	0.010504	0	0
ARMC4	55130	broad.mit.edu	37	10	28283985	28283985	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:28283985C>T	ENST00000305242.5	-	2	179	c.87G>A	c.(85-87)gcG>gcA	p.A29A		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	29							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTTTCAATATCGCTTCATTTA	0.433000													15	29					0	0	0.006122	0	0
ADAM30	11085	broad.mit.edu	37	1	120437687	120437687	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:120437687G>A	ENST00000369400.1	-	1	1431	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	425	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGGCAACACCGATCTTTCTGA	0.448000													514	38					0	0	0.003610	0	0
CACNA1F	778	broad.mit.edu	37	X	49061740	49061740	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:49061740G>A	ENST00000376265.2	-	48	5852	c.5791C>T	c.(5791-5793)Ctg>Ttg	p.L1931L	CACNA1F_ENST00000376251.1_Silent_p.L1866L|CACNA1F_ENST00000323022.5_Silent_p.L1920L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1931					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TCCAGCGTCAGGCGACACGCA	0.597000													8	12					0	0	0.004482	0	0
NCOA5	57727	broad.mit.edu	37	20	44692190	44692190	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:44692190G>A	ENST00000290231.6	-	7	1123	c.959C>T	c.(958-960)gCc>gTc	p.A320V		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CTGCAGGATGGCTTCATCGGC	0.582000													21	15					0	0	0.002299	0	0
USH2A	7399	broad.mit.edu	37	1	216595659	216595659	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:216595659G>A	ENST00000366943.2	-	2	406	c.20C>T	c.(19-21)tCa>tTa	p.S7L	USH2A_ENST00000307340.3_Missense_Mutation_p.S7L|USH2A_ENST00000366942.3_Missense_Mutation_p.S7L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	7					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAGCCCAATGAAAGAACTGG	0.408000										HNSCC(13;0.011)			82	4					0	0	0.003610	0	0
SYNE2	23224	broad.mit.edu	37	14	64636996	64636996	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:64636996C>T	ENST00000357395.3	+	95	17350	c.6206C>T	c.(6205-6207)gCt>gTt	p.A2069V	SYNE2_ENST00000344113.4_Missense_Mutation_p.A5684V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A2318V|SYNE2_ENST00000554584.1_Missense_Mutation_p.A5559V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2069V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A5684V			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5684					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGCAGAATGCTGTCCAGGGT	0.463000													42	63					0	0	0.003610	0	0
STXBP5L	9515	broad.mit.edu	37	3	120973774	120973774	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:120973774T>G	ENST00000273666.6	+	16	1745	c.1474T>G	c.(1474-1476)Tca>Gca	p.S492A	STXBP5L_ENST00000471454.1_Missense_Mutation_p.S492A|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S492A|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S492A|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S492A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	492					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)		GCTAAAAACTTCAAAAGTGTT	0.338000													27	12					0	0	0.008361	0	0
PCDH11X	27328	broad.mit.edu	37	X	91723302	91723302	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:91723302C>T	ENST00000504220.1	+	6	3185	c.3185C>T	c.(3184-3186)tCa>tTa	p.S1062L	PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000373088.1_Silent_p.F1079F|PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000373094.1_Silent_p.F1116F|PCDH11X_ENST00000373097.1_Silent_p.F1106F	NM_001168361.1	NP_001161833.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	884					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTTTAGCTTTCATACCTGGAC	0.269000													4	5					0	0	0.004007	0	0
FBXL13	222235	broad.mit.edu	37	7	102608513	102608513	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:102608513G>A	ENST00000393772.2	-	7	973	c.547C>T	c.(547-549)Cat>Tat	p.H183Y	FBXL13_ENST00000313221.4_Missense_Mutation_p.H183Y|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379305.3_Missense_Mutation_p.H183Y|FBXL13_ENST00000379306.3_Missense_Mutation_p.H183Y|FBXL13_ENST00000456695.1_Missense_Mutation_p.H183Y|FBXL13_ENST00000455112.2_Missense_Mutation_p.H183Y|FBXL13_ENST00000436908.1_Missense_Mutation_p.H183Y|FBXL13_ENST00000379308.3_Missense_Mutation_p.H183Y			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	183	F-box.									NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ATCCAGGCATGATTAACTTGA	0.328000													40	29					0	0	0.002852	0	0
TLN1	7094	broad.mit.edu	37	9	35704686	35704686	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:35704686C>A	ENST00000314888.9	-	44	6213	c.5860G>T	c.(5860-5862)Gcc>Tcc	p.A1954S	TLN1_ENST00000540444.1_Missense_Mutation_p.A1848S|TLN1_ENST00000464379.1_5'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1954					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTCTCCGGGCACACTCTATG	0.612000													19	22					7.41877e-09	1.3062e-08	0.001882	1	0
TAZ	6901	broad.mit.edu	37	X	153648499	153648499	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:153648499C>T	ENST00000369776.4	+	5	590	c.505C>T	c.(505-507)Cca>Tca	p.P169S	TAZ_ENST00000299328.5_Intron|TAZ_ENST00000350743.4_Intron|TAZ_ENST00000351413.4_Intron|TAZ_ENST00000498029.1_Intron|TAZ_ENST00000369790.4_Intron			Q16635	TAZ_HUMAN	tafazzin	215	Hydrophilic.				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCTCTGGTCCCAGGCTGCCC	0.637000													72	163					0	0	0.003610	0	0
XPR1	9213	broad.mit.edu	37	1	180832944	180832944	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:180832944G>T	ENST00000367590.4	+	12	1800	c.1602G>T	c.(1600-1602)tgG>tgT	p.W534C	XPR1_ENST00000367589.3_Missense_Mutation_p.W469C	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	534	EXS.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AGATGGACTGGGGTCTCTTCG	0.418000													8	211					0.00448238	0.00785278	0.004482	1	0
OR1J1	347168	broad.mit.edu	37	9	125239349	125239349	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:125239349T>C	ENST00000259357.2	-	1	886	c.857A>G	c.(856-858)aAc>aGc	p.N286S		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AATGAATGGGTTCAACATGGG	0.428000													52	4					0	0	0.003610	0	0
RNF213	57674	broad.mit.edu	37	17	78327409	78327409	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:78327409G>A	ENST00000582970.1	+	34	10664	c.10521G>A	c.(10519-10521)atG>atA	p.M3507I	RNF213_ENST00000508628.2_Missense_Mutation_p.M3556I|RNF213_ENST00000336301.6_Missense_Mutation_p.M1580I|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGAGGCCATGGAAACAGAAA	0.582000													21	23					0	0	0.010504	0	0
MRS2	57380	broad.mit.edu	37	6	24423845	24423845	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:24423845G>A	ENST00000378386.3	+	11	1348	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000443868.2_Missense_Mutation_p.D422N|MRS2_ENST00000535061.1_Missense_Mutation_p.D369N|MRS2_ENST00000543597.1_Missense_Mutation_p.D128N	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	419					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TCTTCTGGCAGATAGAAGCAT	0.373000													13	34					0	0	0.004007	0	0
TAF1L	138474	broad.mit.edu	37	9	32634574	32634574	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:32634574G>A	ENST00000242310.4	-	1	1093	c.1004C>T	c.(1003-1005)cCt>cTt	p.P335L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	335					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGACTCCACAGGAACCATCAT	0.493000													39	54					0	0	0.006999	0	0
ADAD2	161931	broad.mit.edu	37	16	84230263	84230263	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:84230263G>A	ENST00000268624.3	+	10	1876	c.1783G>A	c.(1783-1785)Ggg>Agg	p.G595R	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.G513R|RP11-486L19.2_ENST00000569834.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	513					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGCCGCCCTGGGGCCTCCCTC	0.607000													62	69					0	0	0.003610	0	0
RELN	5649	broad.mit.edu	37	7	103162566	103162566	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:103162566C>T	ENST00000424685.2	-	48	7730	c.7571G>A	c.(7570-7572)cGa>cAa	p.R2524Q	RELN_ENST00000428762.1_Missense_Mutation_p.R2524Q|RELN_ENST00000343529.5_Missense_Mutation_p.R2524Q			P78509	RELN_HUMAN	reelin	2524					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGATGGAGCTCGATTGAAGTT	0.547000													23	57					0	0	0.002299	0	0
RP1L1	94137	broad.mit.edu	37	8	10464818	10464818	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:10464818C>T	ENST00000382483.3	-	4	7013	c.6790G>A	c.(6790-6792)Gag>Aag	p.E2264K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2264					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCAGAAGCCTCCTCAGATTGG	0.612000													45	47					0	0	0.003610	0	0
CNDP1	84735	broad.mit.edu	37	18	72228156	72228156	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:72228156G>A	ENST00000582365.1	+	3	306	c.240G>A	c.(238-240)acG>acA	p.T80T	CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Silent_p.T123T			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	123					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GCGATCCCACGAAAGGCACCG	0.577000													50	57					0	0	0.003610	0	0
CGREF1	10669	broad.mit.edu	37	2	27324299	27324299	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:27324299C>T	ENST00000402394.1	-	6	1068	c.800G>A	c.(799-801)gGa>gAa	p.G267E	CGREF1_ENST00000405600.1_Missense_Mutation_p.G267E|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.G389E|CGREF1_ENST00000312734.4_Missense_Mutation_p.G267E|CGREF1_ENST00000260595.5_Missense_Mutation_p.G250E|CGREF1_ENST00000402550.1_Intron	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	258					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGGCATCTCCTTCAGCCTC	0.682000													51	80					0	0	0.003610	0	0
BRWD3	254065	broad.mit.edu	37	X	79980524	79980524	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:79980524C>T	ENST00000373275.4	-	15	1645	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	477										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATCCTTTGATCAAATGGATGG	0.368000													20	28					0	0	0.010504	0	0
OR1L8	138881	broad.mit.edu	37	9	125330715	125330715	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:125330715G>A	ENST00000304865.2	-	1	123	c.42C>T	c.(40-42)atC>atT	p.I14I		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTCCCAGGAGGATAAACTCGG	0.458000													13	1					0	0	0.002450	0	0
PCDH15	65217	broad.mit.edu	37	10	55569229	55569229	+	Silent	SNP	G	G	A	rs12359240		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:55569229G>A	ENST00000395445.1	-	36	4975	c.4581C>T	c.(4579-4581)atC>atT	p.I1527I	PCDH15_ENST00000395446.1_Silent_p.I723I|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Silent_p.I461I|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Silent_p.I392I	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGGTTTTTCGATAGTTACAA	0.368000										HNSCC(58;0.16)			92	125					0	0	0.003610	0	0
CNNM2	54805	broad.mit.edu	37	10	104816573	104816573	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:104816573C>T	ENST00000369878.3	+	4	2049	c.1925C>T	c.(1924-1926)tCc>tTc	p.S642F	CNNM2_ENST00000457502.2_Missense_Mutation_p.S400F|CNNM2_ENST00000433628.2_Missense_Mutation_p.S642F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	642					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TTTAGCCCATCCCAGATGTCA	0.363000													22	25					0	0	0.001882	0	0
SNX8	29886	broad.mit.edu	37	7	2302895	2302895	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:2302895G>A	ENST00000222990.3	-	7	927	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	295					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CGAGCAGCGCGAATTCCACAG	0.617000													37	16					0	0	0.009718	0	0
USP29	57663	broad.mit.edu	37	19	57642176	57642176	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:57642176C>T	ENST00000254181.4	+	4	2587	c.2133C>T	c.(2131-2133)tcC>tcT	p.S711S	USP29_ENST00000598197.1_Silent_p.S711S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	711					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCACTGAGTCCACCAATGGCT	0.423000													17	30					0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9047536	9047536	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9047536G>A	ENST00000397910.4	-	5	34298	c.34095C>T	c.(34093-34095)acC>acT	p.T11365T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11367	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						AATAATTAGGGGTTGTCCTGG	0.493000													79	100					0	0	0.003610	0	0
NLRP11	204801	broad.mit.edu	37	19	56300200	56300200	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:56300200C>T	ENST00000443188.1	-	11	3538	c.2828G>A	c.(2827-2829)aGc>aAc	p.S943N	NLRP11_ENST00000592953.1_Missense_Mutation_p.S844N|NLRP11_ENST00000589093.1_Missense_Mutation_p.S943N|NLRP11_ENST00000360133.3_Missense_Mutation_p.S889N|NLRP11_ENST00000589824.2_Missense_Mutation_p.S889N	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	943							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACAATCTGGGCTGATCAAGCT	0.358000													26	23					0	0	0.009535	0	0
PMP2	5375	broad.mit.edu	37	8	82356784	82356784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:82356784C>T	ENST00000519260.1	-	2	178	c.126G>A	c.(124-126)tgG>tgA	p.W42*	RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000256103.2_Missense_Mutation_p.G100D			P02689	MYP2_HUMAN	peripheral myelin protein 2	0						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TGTCTCTTTGCCATCCCATCT	0.378000													18	47					0	0	0.008871	0	0
ZBTB11	27107	broad.mit.edu	37	3	101384430	101384430	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:101384430C>T	ENST00000312938.4	-	4	1581	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATTCTGTACTCGTAAGTCCTG	0.428000													32	41					0	0	0.009535	0	0
MUCL1	118430	broad.mit.edu	37	12	55250568	55250568	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:55250568G>A	ENST00000308796.6	+	3	161	c.115G>A	c.(115-117)Gat>Aat	p.D39N	MUCL1_ENST00000547990.1_3'UTR|MUCL1_ENST00000546809.1_Missense_Mutation_p.D34N	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	39	Thr-rich.					extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						tcctgctgatgatgaagcccc	0.502000													8	10					0	0	0.003080	0	0
MYH4	4622	broad.mit.edu	37	17	10348156	10348156	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:10348156C>T	ENST00000255381.2	-	38	5637	c.5527G>A	c.(5527-5529)Ggt>Agt	p.G1843S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1843					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGCGAAGACCCTTGACAGCC	0.438000													54	76					0	0	0.003610	0	0
EYS	346007	broad.mit.edu	37	6	66044932	66044932	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:66044932A>T	ENST00000503581.1	-	11	2244	c.1707T>A	c.(1705-1707)gaT>gaA	p.D569E	EYS_ENST00000393380.2_Missense_Mutation_p.D569E|EYS_ENST00000370616.2_Missense_Mutation_p.D569E|EYS_ENST00000370618.3_Missense_Mutation_p.D569E|EYS_ENST00000370621.3_Missense_Mutation_p.D569E|EYS_ENST00000342421.5_Missense_Mutation_p.D569E	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	569	EGF-like 6.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTTCTTGATCATCAGTTGTAT	0.348000													27	2					0	0	0.003954	0	0
COL5A3	50509	broad.mit.edu	37	19	10078597	10078597	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:10078597C>T	ENST00000264828.3	-	61	4472	c.4387G>A	c.(4387-4389)Ggc>Agc	p.G1463S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1463	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTTTTGAGCCTTTCTGTCCT	0.587000													35	47					0	0	0.004878	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833249	43833249	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:43833249C>T	ENST00000319294.6	+	4	502	c.471C>T	c.(469-471)ctC>ctT	p.L157L	UBASH3A_ENST00000398367.1_Silent_p.L157L|UBASH3A_ENST00000291535.6_Silent_p.L157L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	157						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TCAGCTACCTCGGCTTCTTCG	0.632000													38	39					0	0	0.006999	0	0
TCF4	6925	broad.mit.edu	37	18	52937091	52937091	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:52937091G>A	ENST00000354452.3	-	11	1504	c.893C>T	c.(892-894)cCt>cTt	p.P298L	TCF4_ENST00000537578.1_Missense_Mutation_p.P274L|TCF4_ENST00000566286.1_Missense_Mutation_p.P296L|TCF4_ENST00000457482.3_Missense_Mutation_p.P138L|TCF4_ENST00000565018.2_Missense_Mutation_p.P298L|TCF4_ENST00000543082.1_Missense_Mutation_p.P256L|TCF4_ENST00000398339.1_Missense_Mutation_p.P400L|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000568673.1_Missense_Mutation_p.P274L|TCF4_ENST00000356073.4_Missense_Mutation_p.P298L|TCF4_ENST00000540999.1_Missense_Mutation_p.P274L|TCF4_ENST00000561992.1_Missense_Mutation_p.P168L|TCF4_ENST00000564403.2_Missense_Mutation_p.P304L|TCF4_ENST00000561831.3_Missense_Mutation_p.P138L|TCF4_ENST00000564228.1_Missense_Mutation_p.P227L|TCF4_ENST00000567880.1_Missense_Mutation_p.P238L|TCF4_ENST00000570177.2_Missense_Mutation_p.P168L|TCF4_ENST00000568740.1_Missense_Mutation_p.P273L|TCF4_ENST00000537856.3_Missense_Mutation_p.P168L|TCF4_ENST00000564999.1_Missense_Mutation_p.P298L|TCF4_ENST00000544241.2_Missense_Mutation_p.P227L|TCF4_ENST00000566279.1_Missense_Mutation_p.P238L|TCF4_ENST00000570287.2_Missense_Mutation_p.P138L	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	298					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)		GTTGGCAGGAGGCGTACAGGA	0.453000													25	27					0	0	0.003954	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55294968	55294968	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:55294968G>A	ENST00000336077.6	+	7	888	c.848G>A	c.(847-849)gGa>gAa	p.G283E	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.G283E|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.G309E|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	283					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GAGTCTGCAGGAAACAGAACA	0.517000													35	3					0	0	0.007835	0	0
MLLT6	4302	broad.mit.edu	37	17	36873715	36873715	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:36873715C>T	ENST00000325718.7	+	11	1773	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	561					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GACCCCATCTCCCACAGTGGC	0.662000			T	MLL	AL								27	43					0	0	0.002445	0	0
DPP10	57628	broad.mit.edu	37	2	116548899	116548899	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:116548899T>G	ENST00000410059.1	+	19	2147	c.1667T>G	c.(1666-1668)aTg>aGg	p.M556R	DPP10_ENST00000393147.2_Missense_Mutation_p.M560R|DPP10_ENST00000409163.1_Missense_Mutation_p.M506R|DPP10_ENST00000310323.8_Missense_Mutation_p.M549R	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	556					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAAGATTTTATGGACCGAAAC	0.299000													46	43					0	0	0.003610	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213868	3213868	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:3213868C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							TGAGCCATTTCATATCCAACG	0.542000													19	32					0	0	0.002299	0	0
APOA4	337	broad.mit.edu	37	11	116692365	116692365	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:116692365G>A	ENST00000357780.3	-	3	523	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCCGCGTagggctccaggcgc	0.682000													70	9					0	0	0.003610	0	0
SLC9C2	284525	broad.mit.edu	37	1	173490494	173490494	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:173490494A>C	ENST00000367714.3	-	22	3107	c.2685T>G	c.(2683-2685)tgT>tgG	p.C895W	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	895					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CACCTCCTTTACAAATGGTAT	0.323000													84	4					0	0	0.003610	0	0
ATAD1	84896	broad.mit.edu	37	10	89550090	89550090	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:89550090G>A	ENST00000308448.7	-	4	737	c.359C>T	c.(358-360)tCc>tTc	p.S120F	ATAD1_ENST00000328142.3_Missense_Mutation_p.S120F|ATAD1_ENST00000400215.3_Missense_Mutation_p.S62F|ATAD1_ENST00000495903.1_5'UTR|ATAD1_ENST00000541004.1_Missense_Mutation_p.S120F	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	120						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		CAGAAGCCTGGAATTCTCAAA	0.368000													24	33					0	0	0.004656	0	0
MLST8	64223	broad.mit.edu	37	16	2258787	2258787	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:2258787G>A	ENST00000569417.1	+	9	1244	c.890G>A	c.(889-891)tGg>tAg	p.W297*	MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000564088.1_Nonsense_Mutation_p.W297*|MLST8_ENST00000565250.1_Nonsense_Mutation_p.W297*|MLST8_ENST00000301724.10_3'UTR|MLST8_ENST00000382450.4_Nonsense_Mutation_p.W296*|MLST8_ENST00000397124.1_Nonsense_Mutation_p.W297*	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	297					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						GCCCGGCTCTGGTGTGTGGAG	0.622000													82	86					0	0	0.003610	0	0
ULK1	8408	broad.mit.edu	37	12	132394824	132394824	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:132394824C>T	ENST00000321867.4	+	11	1185	c.834C>T	c.(832-834)ctC>ctT	p.L278L		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	278	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACCCTTTCCTCGATGCCAGCC	0.632000													67	65					0	0	0.003610	0	0
SMG8	55181	broad.mit.edu	37	17	57288300	57288300	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:57288300C>T	ENST00000543872.2	+	2	1152	c.888C>T	c.(886-888)ccC>ccT	p.P296P	SMG8_ENST00000578922.1_Silent_p.P296P|SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Silent_p.P296P			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	296					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AACATTCTCCCAAAAGGAGGC	0.498000													32	31					0	0	0.002445	0	0
SAMHD1	25939	broad.mit.edu	37	20	35547838	35547838	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:35547838G>A	ENST00000262878.4	-	7	980	c.781C>T	c.(781-783)Cct>Tct	p.P261S	SAMHD1_ENST00000373694.5_Missense_Mutation_p.P46S	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	261	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TCTTCTTCAGGGATGAGACCA	0.348000													24	33					0	0	0.003330	0	0
CSMD1	64478	broad.mit.edu	37	8	2823397	2823397	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:2823397G>A	ENST00000602557.1	-	60	9738	c.9183C>T	c.(9181-9183)agC>agT	p.S3061S	CSMD1_ENST00000520002.1_Silent_p.S3061S|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000537824.1_Silent_p.S3060S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3061	Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACACTGATAGCTCACAGTCT	0.488000													6	11					0	0	0.001984	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940383	82940383	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:82940383C>T	ENST00000274341.4	-	4	1424	c.574G>A	c.(574-576)Gac>Aac	p.D192N		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	192	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TACAGCTGGTCGAAGGAGGCG	0.592000													15	16					0	0	0.003163	0	0
GAS7	8522	broad.mit.edu	37	17	9873045	9873045	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:9873045G>A	ENST00000396115.1	-	4	550	c.240C>T	c.(238-240)caC>caT	p.H80H	GAS7_ENST00000579158.1_Silent_p.H92H|GAS7_ENST00000540214.1_Silent_p.H76H|GAS7_ENST00000585266.1_Silent_p.H76H|GAS7_ENST00000578655.1_Intron|GAS7_ENST00000323816.4_Silent_p.H76H|GAS7_ENST00000542249.1_Silent_p.H85H|GAS7_ENST00000437099.2_Silent_p.H76H|GAS7_ENST00000432992.2_Silent_p.H140H	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	140	WW.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TCTCTGGAGGGTGCGCTGGGG	0.607000			T	MLL	AML*								27	32					0	0	0.009535	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926618	106926618	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:106926618G>A	ENST00000434710.1	-	0	106																											TAGCAACAAGGAAAACCCAGC	0.473000													53	104					0	0	0.003610	0	0
SLC39A8	64116	broad.mit.edu	37	4	103236961	103236961	+	Silent	SNP	G	G	A	rs139422652		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:103236961G>A	ENST00000424970.2	-	3	561	c.246C>T	c.(244-246)tcC>tcT	p.S82S	SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000356736.4_Silent_p.S82S|SLC39A8_ENST00000394833.2_Silent_p.S82S	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	82						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AGCCATGAAGGGAAAAGATCT	0.353000													43	32					0	0	0.002522	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23458423	23458423	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:23458423C>T	ENST00000258729.3	-	3	613	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	86	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CGGGATATTTCGTATCTGAAG	0.303000													12	9					0	0	0.004007	0	0
GBX1	2636	broad.mit.edu	37	7	150845828	150845828	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:150845828C>T	ENST00000297537.4	-	2	939	c.940G>A	c.(940-942)Gcc>Acc	p.A314T		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	314						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCACTTGGCCCGTCGATTC	0.537000													33	76					0	0	0.003755	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482344	140482344	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140482344C>T	ENST00000231130.2	+	1	2111	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		704					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)			TTCCTCTTTTCGGTGCTCCTG	0.692000													84	121					0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141756641	141756641	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:141756641C>T	ENST00000475668.2	+	30	3646	c.3592C>T	c.(3592-3594)Cag>Tag	p.Q1198*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.Q1198*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1198	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTGACGTTCCAGCCCCTGCC	0.517000													17	34					0	0	0.004990	0	0
IFITM2	10581	broad.mit.edu	37	11	308250	308250	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:308250G>A	ENST00000399817.4	+	1	88	c.58G>A	c.(58-60)Gag>Aag	p.E20K	IFITM2_ENST00000602569.1_5'UTR|IFITM2_ENST00000533141.1_5'UTR	NM_006435.2	NP_006426.2	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	20					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCCCAACTACGAGATGCTCAA	0.597000													58	69					0	0	0.003610	0	0
KRT6B	3854	broad.mit.edu	37	12	52840992	52840992	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:52840992C>T	ENST00000252252.3	-	9	1724	c.1677G>A	c.(1675-1677)agG>agA	p.R559R		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	559	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGTAGCTCTTCCTGCTGGAGG	0.617000													24	37					0	0	0.007291	0	0
SOX17	64321	broad.mit.edu	37	8	55370970	55370970	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:55370970C>T	ENST00000297316.4	+	1	476	c.272C>T	c.(271-273)cCa>cTa	p.P91L		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	91					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CAGCAGAATCCAGACCTGCAC	0.662000													17	19					0	0	0.008871	0	0
DACH2	117154	broad.mit.edu	37	X	85969711	85969711	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:85969711C>T	ENST00000373131.1	+	5	1216	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	DACH2_ENST00000373125.4_Silent_p.T364T|DACH2_ENST00000510272.1_Silent_p.T145T|DACH2_ENST00000508860.1_Silent_p.T197T	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	364	Poly-Ala.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GAGCTGGTACCTCTGTTATAA	0.398000													33	34					0	0	0.002836	0	0
CACNA1S	779	broad.mit.edu	37	1	201060870	201060870	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:201060870G>A	ENST00000362061.3	-	5	818	c.592C>T	c.(592-594)Cac>Tac	p.H198Y	CACNA1S_ENST00000367338.3_Missense_Mutation_p.H198Y	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	198					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGGGCGATGTGAAAGAGGGGG	0.552000													62	1					0	0	0.003610	0	0
ZFAND4	93550	broad.mit.edu	37	10	46159002	46159002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:46159002G>A	ENST00000344646.5	-	2	387	c.172C>T	c.(172-174)Cga>Tga	p.R58*	ZFAND4_ENST00000335258.7_Nonsense_Mutation_p.R58*|ZFAND4_ENST00000374366.3_5'UTR|ZFAND4_ENST00000374371.2_Nonsense_Mutation_p.R58*	NM_001128324.1|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	58	Ubiquitin-like.						zinc ion binding										TCCAATCTTCGAATTTTTGCT	0.308000													9	18					0	0	0.008291	0	0
LOC645166	645166	broad.mit.edu	37	1	148932920	148932920	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:148932920G>A	ENST00000539543.1	+	0	176					NR_027355.1																						CGTCCTGCAAGGTAAGGTCCC	0.597000													11	151					0	0	0.003163	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22433729	22433729	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:22433729G>A	ENST00000390442.3	+	0	50																											AACCAGGGCAGAAAAGAATGA	0.353000													21	38					0	0	0.002780	0	0
RILPL2	196383	broad.mit.edu	37	12	123915204	123915204	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:123915204C>T	ENST00000280571.8	-	2	638	c.342G>A	c.(340-342)gtG>gtA	p.V114V		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	114						cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		GGCCCAGGTTCACCTGGAAGA	0.443000													25	33					0	0	0.004656	0	0
NALCN	259232	broad.mit.edu	37	13	101721152	101721152	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:101721152C>T	ENST00000251127.6	-	38	4306	c.4225G>A	c.(4225-4227)Gaa>Aaa	p.E1409K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1409						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATGTAAATTCATCTGGAGTA	0.398000													15	19					0	0	0.004007	0	0
STS	412	broad.mit.edu	37	X	7268244	7268244	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:7268244C>T	ENST00000217961.4	+	10	1914	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	565					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TGCTGTCCTTCCACCGGCCTG	0.562000									Ichthyosis				14	19					0	0	0.003163	0	0
CFB	629	broad.mit.edu	37	6	31911516	31911516	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:31911516C>T	ENST00000456570.1	+	10	1259	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	C2_ENST00000452323.2_Silent_p.L341L|CFB_ENST00000477310.1_Silent_p.L326L|CFB_ENST00000556679.1_Silent_p.L402L|C2_ENST00000442278.2_Silent_p.L423L|C2_ENST00000469372.1_Silent_p.L309L|C2_ENST00000299367.5_Silent_p.L555L|C2_ENST00000468407.1_3'UTR			P00751	CFAB_HUMAN	complement factor B	570	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCAGGGAATCCTGGAGTTCTA	0.532000													184	445					0	0	0.003610	0	0
ADCY1	107	broad.mit.edu	37	7	45717493	45717493	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:45717493A>C	ENST00000297323.7	+	9	1653	c.1631A>C	c.(1630-1632)gAa>gCa	p.E544A		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	544					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ACAGCCTCGGAAAAACTCAGA	0.498000													52	118					0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61831521	61831521	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:61831521C>T	ENST00000280772.1	-	37	9309	c.9118G>A	c.(9118-9120)Gaa>Aaa	p.E3040K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3040					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTTCGGTTTCCTCGAGAGGT	0.423000													44	54					0	0	0.003610	0	0
SP110	3431	broad.mit.edu	37	2	231036436	231036436	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:231036436G>A	ENST00000258381.6	-	17	1940	c.1863C>T	c.(1861-1863)tcC>tcT	p.S621S	SP110_ENST00000358662.4_Intron	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	605	Bromo.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CCGTAAAAAAGGAGCTTTGTG	0.428000													23	19					0	0	0.007291	0	0
KCNT2	343450	broad.mit.edu	37	1	196309516	196309516	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:196309516G>A	ENST00000367433.5	-	16	1839	c.1738C>T	c.(1738-1740)Cat>Tat	p.H580Y	KCNT2_ENST00000451324.2_Missense_Mutation_p.H191Y|KCNT2_ENST00000294725.8_Missense_Mutation_p.H580Y|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.H530Y			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	580						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GAAGGTCCATGATAAAACGAC	0.294000													131	10					0	0	0.003610	0	0
CYP4V2	285440	broad.mit.edu	37	4	187130396	187130396	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:187130396C>T	ENST00000378802.4	+	10	1679	c.1375C>T	c.(1375-1377)Ccc>Tcc	p.P459S	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	459					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TGCCTACGTGCCCTTCTCTGC	0.522000													37	40					0	0	0.007835	0	0
SLC5A6	8884	broad.mit.edu	37	2	27427440	27427440	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:27427440G>A	ENST00000310574.3	-	9	1367	c.894C>T	c.(892-894)ttC>ttT	p.F298F	SLC5A6_ENST00000408041.1_Silent_p.F298F	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	298					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GCTGGAAGGGGAACACTGCAT	0.577000													17	20					0	0	0.008871	0	0
CSNK1A1P1	161635	broad.mit.edu	37	15	37110049	37110049	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:37110049C>T	ENST00000430593.3	-	0	611					NR_027320.1																						AATTGGTCTTCGAGGCTAGGT	0.408000													9	13					0	0	0.004482	0	0
LRP2	4036	broad.mit.edu	37	2	170127566	170127566	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:170127566G>A	ENST00000263816.3	-	16	2453	c.2168C>T	c.(2167-2169)cCg>cTg	p.P723L	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	723					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAAGGTGAACGGGATCCCACG	0.448000													26	28					0	0	0.004656	0	0
ZNF559	84527	broad.mit.edu	37	19	9453349	9453349	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9453349C>T	ENST00000393883.2	+	6	1870	c.1222C>T	c.(1222-1224)Ccc>Tcc	p.P408S	ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000603380.1_Missense_Mutation_p.P408S|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.P472S|ZNF559_ENST00000538743.1_Missense_Mutation_p.P328S|ZNF177_ENST00000602856.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TGGTGTAAAACCCTATGACTG	0.408000													21	43					0	0	0.001882	0	0
CYBB	1536	broad.mit.edu	37	X	37658288	37658288	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:37658288G>A	ENST00000378588.4	+	7	822	c.755G>A	c.(754-756)gGa>gAa	p.G252E	CYBB_ENST00000545017.1_Missense_Mutation_p.G220E|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000492288.1_3'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	252	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TCAGAATGGGGAAAAATAAAG	0.383000													18	16					0	0	0.010504	0	0
RHO	6010	broad.mit.edu	37	3	129251558	129251558	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:129251558C>T	ENST00000296271.3	+	4	973	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	293					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TCCCAGCGTTCTTTGCCAAGA	0.582000													30	33					0	0	0.002445	0	0
FOXK2	3607	broad.mit.edu	37	17	80540786	80540786	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:80540786C>T	ENST00000335255.5	+	5	1253	c.1079C>T	c.(1078-1080)aCc>aTc	p.T360I		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	360					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TGCTTTAGAACCCCTCTGGGA	0.473000													9	20					0	0	0.000978	0	0
BRWD3	254065	broad.mit.edu	37	X	79947370	79947370	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:79947370C>T	ENST00000373275.4	-	30	3649	c.3433G>A	c.(3433-3435)Gaa>Aaa	p.E1145K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1145										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCACATTCTTCGTCTCTGGAA	0.468000													27	35					0	0	0.009535	0	0
NSD1	64324	broad.mit.edu	37	5	176638709	176638709	+	Silent	SNP	C	C	T	rs142096976		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:176638709C>T	ENST00000439151.2	+	5	3354	c.3309C>T	c.(3307-3309)gaC>gaT	p.D1103D	NSD1_ENST00000354179.4_Silent_p.D834D|NSD1_ENST00000347982.4_Silent_p.D834D|NSD1_ENST00000361032.4_Silent_p.D1000D	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1103					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGATGGTGACCATTTTTCTG	0.443000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			32	31					0	0	0.009535	0	0
XIST	7503	broad.mit.edu	37	X	73072336	73072336	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:73072336C>T	ENST00000429829.1	-	0	252					NR_001564.2																						CAAAATATTCCAAATACTTTC	0.264000													5	19					0	0	0.000602	0	0
MYRIP	25924	broad.mit.edu	37	3	40231918	40231918	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:40231918C>T	ENST00000302541.6	+	10	1971	c.1629C>T	c.(1627-1629)tcC>tcT	p.S543S	MYRIP_ENST00000539167.1_Silent_p.S356S|MYRIP_ENST00000444716.1_Silent_p.S543S|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Silent_p.S543S|MYRIP_ENST00000396217.3_Silent_p.S454S	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	543	Actin-binding.|Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AACCATCTTCCCCCAGCGCCC	0.602000													11	22					0	0	0.002450	0	0
TSPEAR	54084	broad.mit.edu	37	21	45941922	45941922	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:45941922G>A	ENST00000323084.4	-	9	1475	c.1410C>T	c.(1408-1410)acC>acT	p.T470T	C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Silent_p.T402T	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	470					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGGTGGCGATGGTCTGGTTGG	0.617000													60	74					0	0	0.003610	0	0
ZNF317	57693	broad.mit.edu	37	19	9267342	9267342	+	Missense_Mutation	SNP	C	C	T	rs141551247		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9267342C>T	ENST00000247956.6	+	3	385	c.80C>T	c.(79-81)tCa>tTa	p.S27L	ZNF317_ENST00000360385.3_Missense_Mutation_p.S27L	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CCTGTTTCTTCAAAAGACCAT	0.527000													69	83					0	0	0.003610	0	0
LOC440040	440040	broad.mit.edu	37	11	49597902	49597902	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:49597902C>T	ENST00000527477.1	+	0	506																											TGGGTGACATCATTATTGGAG	0.498000													23	14					0	0	0.002780	0	0
DNAH7	56171	broad.mit.edu	37	2	196746611	196746611	+	Nonsense_Mutation	SNP	G	G	A	rs149212659		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:196746611G>A	ENST00000312428.6	-	36	5969	c.5869C>T	c.(5869-5871)Cga>Tga	p.R1957*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1957	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1957*(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCAGAGTATCGAATTGTGTCC	0.378000													31	56					0	0	0.009535	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801744	185801744	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:185801744A>T	ENST00000302277.6	+	4	2215	c.1621A>T	c.(1621-1623)Aat>Tat	p.N541Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	541						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTCTGGAAAAAATGAGAACAC	0.338000													21	24					0	0	0.001882	0	0
MEPE	56955	broad.mit.edu	37	4	88766623	88766623	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:88766623C>T	ENST00000497649.2	+	6	909	c.531C>T	c.(529-531)tcC>tcT	p.S177S	MEPE_ENST00000560249.1_Silent_p.S88S|MEPE_ENST00000424957.3_Silent_p.S201S|MEPE_ENST00000361056.3_Silent_p.S201S|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Silent_p.S232S|MEPE_ENST00000540395.1_Silent_p.S88S			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	201					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAAGAGATTCCCAAGCCCAGA	0.383000													29	32					0	0	0.007291	0	0
MYH1	4619	broad.mit.edu	37	17	10401113	10401113	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:10401113C>T	ENST00000226207.5	-	31	4397	c.4303G>A	c.(4303-4305)Gat>Aat	p.D1435N	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1435						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.D1435N(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCTCAACATCAATCATGAGG	0.458000													42	50					0	0	0.003610	0	0
KRT80	144501	broad.mit.edu	37	12	52566020	52566020	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:52566020G>A	ENST00000313234.5	-	7	1237	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	KRT80_ENST00000394815.2_Silent_p.I380I	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	380	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TGTAGGTGGCGATCTCGATGT	0.667000													35	52					0	0	0.005524	0	0
FREM1	158326	broad.mit.edu	37	9	14857629	14857629	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:14857629C>T	ENST00000380881.4	-	6	1565	c.750G>A	c.(748-750)ctG>ctA	p.L250L	FREM1_ENST00000422223.2_Silent_p.L250L|FREM1_ENST00000380880.3_Silent_p.L250L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	250					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAGGGGGATCCAGATGCTGAT	0.478000													49	67					0	0	0.003610	0	0
ANKS1B	56899	broad.mit.edu	37	12	99898347	99898347	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:99898347C>T	ENST00000547776.2	-	10	1344	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	ANKS1B_ENST00000329257.7_Missense_Mutation_p.E449K|ANKS1B_ENST00000547010.1_Missense_Mutation_p.E29K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	449						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTCTCATTTTCTGAAGGAAAT	0.378000													14	8					0	0	0.001855	0	0
DCLK3	85443	broad.mit.edu	37	3	36778957	36778957	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:36778957C>T	ENST00000416516.2	-	2	1684	c.1194G>A	c.(1192-1194)atG>atA	p.M398I		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	398	Protein kinase.					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						CACTGTCCACCATGTCCTCCT	0.507000													18	26					0	0	0.006122	0	0
HPGD	3248	broad.mit.edu	37	4	175413236	175413236	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:175413236C>T	ENST00000296521.7	-	6	543	c.508G>A	c.(508-510)Gat>Aat	p.D170N	HPGD_ENST00000510901.1_Silent_p.L103L|HPGD_ENST00000542498.1_Silent_p.*144*|HPGD_ENST00000296522.6_Silent_p.L224L|HPGD_ENST00000541923.1_Silent_p.L103L|HPGD_ENST00000422112.2_Silent_p.L156L			P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	0					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)	CATTGGCAATCAATGGTGGGC	0.303000													78	106					0	0	0.003610	0	0
C1orf173	127254	broad.mit.edu	37	1	75036996	75036996	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:75036996C>T	ENST00000326665.5	-	14	4616	c.4398G>A	c.(4396-4398)caG>caA	p.Q1466Q	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1466	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						CTCCTGTCTCCTGCCTCCCAT	0.587000													100	10					0	0	0.003610	0	0
GPCPD1	56261	broad.mit.edu	37	20	5545699	5545699	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:5545699G>A	ENST00000379019.4	-	15	1505	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	431	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TTTCTGAAAAGGAATTTTCCT	0.318000													44	87					0	0	0.003610	0	0
CHN1	1123	broad.mit.edu	37	2	175677155	175677155	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:175677155C>T	ENST00000409900.3	-	9	1081	c.768G>A	c.(766-768)aaG>aaA	p.K256K	CHN1_ENST00000409597.1_Silent_p.K72K|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000295497.7_Silent_p.K131K|CHN1_ENST00000409156.3_Silent_p.K230K	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	256					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TCAAGTCTGGCTTACAGTCAT	0.403000			T	TAF15	extraskeletal myxoid chondrosarcoma								25	40					0	0	0.005443	0	0
KRT28	162605	broad.mit.edu	37	17	38954492	38954492	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:38954492C>T	ENST00000306658.7	-	3	750	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	229	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCTACCTCTTCGTGGTTCTTT	0.463000													44	65					0	0	0.003610	0	0
TCF4	6925	broad.mit.edu	37	18	53018134	53018134	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:53018134C>T	ENST00000354452.3	-	7	1081	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	TCF4_ENST00000537578.1_Missense_Mutation_p.R133Q|TCF4_ENST00000566286.1_Missense_Mutation_p.R155Q|TCF4_ENST00000565018.2_Missense_Mutation_p.R157Q|TCF4_ENST00000543082.1_Missense_Mutation_p.R115Q|TCF4_ENST00000398339.1_Missense_Mutation_p.R259Q|TCF4_ENST00000568673.1_Missense_Mutation_p.R133Q|TCF4_ENST00000356073.4_Missense_Mutation_p.R157Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R133Q|TCF4_ENST00000561992.1_Missense_Mutation_p.R27Q|TCF4_ENST00000564403.2_Missense_Mutation_p.R157Q|TCF4_ENST00000564228.1_Missense_Mutation_p.R86Q|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000570177.2_Missense_Mutation_p.R27Q|TCF4_ENST00000568740.1_Missense_Mutation_p.R132Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R27Q|TCF4_ENST00000564999.1_Missense_Mutation_p.R157Q|TCF4_ENST00000544241.2_Missense_Mutation_p.R86Q|TCF4_ENST00000566279.1_Intron	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	157					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)		AGGCCTCCTTCGGGGATTATT	0.448000													36	26					0	0	0.008740	0	0
TPTE2	93492	broad.mit.edu	37	13	20000566	20000566	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:20000566G>A	ENST00000400230.2	-	18	1438	c.1395_splice	c.e18+1	p.S465_splice	TPTE2_ENST00000382978.1_Splice_Site_p.S425_splice|TPTE2_ENST00000390680.2_Splice_Site_p.S388_splice|TPTE2_ENST00000382977.4_Splice_Site_p.S465_splice|TPTE2_ENST00000400103.2_Splice_Site_p.S354_splice|TPTE2_ENST00000382975.4_Splice_Site_p.S425_splice|TPTE2_ENST00000255310.6_Splice_Site_p.S388_splice|TPTE2_ENST00000457266.2_Splice_Site_p.S354_splice			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	465	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATTACTCACCGAAGAGAAAAA	0.368000													11	86					0	0	0.004007	0	0
EPPK1	83481	broad.mit.edu	37	8	144942083	144942083	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:144942083C>T	ENST00000525985.1	-	2	5410	c.5339G>A	c.(5338-5340)aGa>aAa	p.R1780K				P58107	EPIPL_HUMAN	epiplakin 1	1780						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTTTGCAGTTCTGGATTGCAA	0.532000													17	27					0	0	0.004007	0	0
IRF9	10379	broad.mit.edu	37	14	24620500	24620500	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:24620500C>T	ENST00000558468.1	+	1	74	c.74C>T	c.(73-75)tCc>tTc	p.S25F	RNF31_ENST00000382687.3_Missense_Mutation_p.S399F|RNF31_ENST00000324103.6_Missense_Mutation_p.S550F|RNF31_ENST00000559275.1_Missense_Mutation_p.S399F																							GGTGCCTTTTCCTGTCAGGAG	0.607000													22	20					0	0	0.002780	0	0
CILP2	148113	broad.mit.edu	37	19	19654542	19654542	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:19654542C>T	ENST00000586018.1	+	8	1308	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	CILP2_ENST00000291495.4_Silent_p.L396L			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	396						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TGATCAAGCTCCCTGAGGACT	0.667000													81	86					0	0	0.003610	0	0
MCOLN1	57192	broad.mit.edu	37	19	7595174	7595174	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:7595174C>T	ENST00000264079.6	+	12	1487	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	454					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTGGCAGTTCCGCTCACTCT	0.647000													50	59					0	0	0.003610	0	0
REG1A	5967	broad.mit.edu	37	2	79348011	79348011	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:79348011C>T	ENST00000233735.1	+	2	127	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	8					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GCTCATACTTCATGCTGATCT	0.463000													39	32					0	0	0.002852	0	0
ZNF423	23090	broad.mit.edu	37	16	49672585	49672585	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:49672585G>A	ENST00000561648.1	-	4	531	c.478C>T	c.(478-480)Cac>Tac	p.H160Y	ZNF423_ENST00000535559.1_Missense_Mutation_p.H43Y|ZNF423_ENST00000563137.2_Missense_Mutation_p.H100Y|ZNF423_ENST00000562871.1_Missense_Mutation_p.H100Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.H43Y|ZNF423_ENST00000562520.1_Missense_Mutation_p.H100Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.H160Y	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	160					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGTCGCTGTGGATCTGCTCG	0.597000													22	27					0	0	0.003330	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993622	140993622	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:140993622C>T	ENST00000285879.4	+	4	718	c.432C>T	c.(430-432)ttC>ttT	p.F144F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	144							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTATTTTCCAGAGTTCCC	0.502000										HNSCC(15;0.026)			91	67					0	0	0.003610	0	0
HR	55806	broad.mit.edu	37	8	21976783	21976783	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:21976783G>A	ENST00000381418.4	-	15	4471	c.2991C>T	c.(2989-2991)caC>caT	p.H997H	HR_ENST00000312841.8_Silent_p.H997H	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	997	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGTGTCCCCGGTGCGGGCTCA	0.602000													11	10					0	0	0.001368	0	0
ATP9A	10079	broad.mit.edu	37	20	50221426	50221426	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:50221426G>A	ENST00000338821.5	-	27	3201	c.2937C>T	c.(2935-2937)ctC>ctT	p.L979L	ATP9A_ENST00000311637.5_Silent_p.L843L|ATP9A_ENST00000402822.1_Silent_p.L858L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	979					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCACTGTCATGAGCCAGTGCC	0.587000													13	12					0	0	0.001368	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067521	11067521	+	Silent	SNP	C	C	T	rs35450949	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:11067521C>T	ENST00000287766.4	+	9	1333	c.912C>T	c.(910-912)atC>atT	p.I304I	SLC6A1_ENST00000536032.1_Silent_p.I126I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	304					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GGTCCCTGATCGCTCTCGGGA	0.532000													38	53					0	0	0.006999	0	0
KSR2	283455	broad.mit.edu	37	12	118016958	118016958	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:118016958C>T	ENST00000425217.1	-	7	1258	c.1204G>A	c.(1204-1206)Ggg>Agg	p.G402R	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.G128R|KSR2_ENST00000339824.5_Missense_Mutation_p.G431R	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	431					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAAAGCATCCCTTTCCCACAG	0.488000													14	15					0	0	0.010504	0	0
PNPLA5	150379	broad.mit.edu	37	22	44277535	44277535	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:44277535C>T	ENST00000216177.4	-	8	1234	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	PNPLA5_ENST00000597664.1_Missense_Mutation_p.D368N|PNPLA5_ENST00000593866.1_Missense_Mutation_p.D254N|PNPLA5_ENST00000381198.2_Missense_Mutation_p.D254N	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	368					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GCCGGCACATCGGGCAGCCAC	0.657000													8	10					0	0	0.006214	0	0
LRP2	4036	broad.mit.edu	37	2	169997050	169997050	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:169997050C>T	ENST00000263816.3	-	72	13399	c.13114G>A	c.(13114-13116)Gaa>Aaa	p.E4372K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4372					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATAGGCAGTTCGATGGCTGCA	0.547000													21	19					0	0	0.002299	0	0
OR2H1	26716	broad.mit.edu	37	6	29429826	29429826	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:29429826G>A	ENST00000377136.1	+	4	745	c.280G>A	c.(280-282)Gga>Aga	p.G94R	OR2H1_ENST00000377133.1_Missense_Mutation_p.G94R|OR2H1_ENST00000396792.2_Missense_Mutation_p.G94R|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Missense_Mutation_p.G94R|OR2H1_ENST00000377132.1_Missense_Mutation_p.G94R			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CAGCTTCCTGGGATGCTCTGT	0.567000													32	72					0	0	0.002836	0	0
FASN	2194	broad.mit.edu	37	17	80041436	80041436	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:80041436G>A	ENST00000306749.2	-	31	5516	c.5298C>T	c.(5296-5298)ttC>ttT	p.F1766F		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1766	Enoyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CAATTTCCAGGAAGCGACCGT	0.642000													11	14					0	0	0.000978	0	0
PRKCD	5580	broad.mit.edu	37	3	53217545	53217545	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:53217545C>T	ENST00000394729.2	+	8	1063	c.735C>T	c.(733-735)gaC>gaT	p.D245D	PRKCD_ENST00000330452.3_Silent_p.D245D	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	245					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CCTTCTGTGACCACTGCGGCA	0.607000													25	35					0	0	0.007291	0	0
CER1	9350	broad.mit.edu	37	9	14722376	14722376	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:14722376C>T	ENST00000380911.3	-	1	339	c.295G>A	c.(295-297)Gac>Aac	p.D99N		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	99					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CTATCTGAGTCCCTGGATGGA	0.537000													30	17					0	0	0.006320	0	0
SORCS3	22986	broad.mit.edu	37	10	106918693	106918693	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:106918693C>T	ENST00000369701.3	+	11	1900	c.1673C>T	c.(1672-1674)cCa>cTa	p.P558L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	558						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCTGAAAATCCATATTCCTCA	0.448000													26	37					0	0	0.002445	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171436	39171436	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:39171436G>A	ENST00000297668.6	-	8	1336	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	CNTNAP3_ENST00000377656.2_Silent_p.L421L|CNTNAP3_ENST00000358144.2_Silent_p.L333L|CNTNAP3_ENST00000323947.7_Silent_p.L421L|CNTNAP3_ENST00000377659.1_Silent_p.L421L	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	421	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCTTAAGAAAGAGGACGAAAC	0.478000													38	47					0	0	0.006999	0	0
PNLIP	5406	broad.mit.edu	37	10	118306806	118306806	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:118306806G>A	ENST00000369221.2	+	3	75	c.46_splice	c.e3-1	p.G16_splice	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	16					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	GGGATTGCAGGAAAAGAAGTT	0.418000													24	28					0	0	0.004656	0	0
ARID2	196528	broad.mit.edu	37	12	46244787	46244787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:46244787C>T	ENST00000334344.6	+	15	3053	c.2881C>T	c.(2881-2883)Cag>Tag	p.Q961*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q812*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q571*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	961	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCAGACAGTTCAGCTAACTGG	0.483000			"""N, S, F"""		hepatocellular carcinoma								36	47					0	0	0.004878	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809786	18809786	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:18809786G>A	ENST00000400664.1	+	1	2363	c.2311G>A	c.(2311-2313)Gat>Aat	p.D771N		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	771						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCACCCCCGATTTGCCTCA	0.657000													58	5					0	0	0.003610	0	0
WDSUB1	151525	broad.mit.edu	37	2	160136445	160136445	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:160136445A>G	ENST00000409990.3	-	3	666	c.410T>C	c.(409-411)gTt>gCt	p.V137A	WDSUB1_ENST00000358147.4_Missense_Mutation_p.V137A|WDSUB1_ENST00000409124.1_Missense_Mutation_p.V137A|WDSUB1_ENST00000392796.3_Missense_Mutation_p.V137A|WDSUB1_ENST00000359774.4_Missense_Mutation_p.V137A	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	137						ubiquitin ligase complex	ubiquitin-protein ligase activity	p.V137A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GCCATCTTTAACACTACCACA	0.398000													8	7					0	0	0.004482	0	0
LILRB1	10859	broad.mit.edu	37	19	55146569	55146569	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:55146569G>A	ENST00000396331.1	+	12	1855	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000324602.7_Missense_Mutation_p.D501N|LILRB1_ENST00000434867.2_Missense_Mutation_p.D500N|LILRB1_ENST00000427581.2_Missense_Mutation_p.D550N|LILRB1_ENST00000418536.2_Missense_Mutation_p.D484N|LILRB1_ENST00000396315.1_Missense_Mutation_p.D501N|LILRB1_ENST00000396317.1_Missense_Mutation_p.D484N|LILRB1_ENST00000396321.2_Missense_Mutation_p.D500N|LILRB1_ENST00000396327.3_Missense_Mutation_p.D501N|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Missense_Mutation_p.D500N	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	500					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)		GAGAAAGGCTGATTTCCAACA	0.607000										HNSCC(37;0.09)			4	10					0	0	0.006214	0	0
ELAC2	60528	broad.mit.edu	37	17	12908385	12908385	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:12908385G>A	ENST00000338034.4	-	11	1143	c.904C>T	c.(904-906)Cct>Tct	p.P302S	ELAC2_ENST00000426905.3_Missense_Mutation_p.P262S|ELAC2_ENST00000395962.2_Missense_Mutation_p.P283S	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	302					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GCAGCACCAGGATCTGGAGGA	0.502000													62	71					0	0	0.003610	0	0
GDPGP1	390637	broad.mit.edu	37	15	90785030	90785030	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:90785030C>G	ENST00000558017.1	+	4	1310	c.890C>G	c.(889-891)cCg>cGg	p.P297R	GDPGP1_ENST00000329600.6_Missense_Mutation_p.P297R	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	297					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										GGAGCTCCGCCGGGAAAGACA	0.527000													28	37					0	0	0.005443	0	0
KRT36	8689	broad.mit.edu	37	17	39643322	39643322	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:39643322G>A	ENST00000393986.2	-	7	1150	c.938C>T	c.(937-939)tCt>tTt	p.S313F	KRT36_ENST00000328119.6_Missense_Mutation_p.S363F			O76013	KRT36_HUMAN	keratin 36	363	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCGGATCTCAGACAGCTGGGC	0.637000													58	61					0	0	0.003610	0	0
GABRA3	2556	broad.mit.edu	37	X	151336938	151336938	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:151336938G>A	ENST00000370314.4	-	10	1479	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	GABRA3_ENST00000535043.1_Missense_Mutation_p.S414F|GABRA3_ENST00000370311.1_Missense_Mutation_p.S414F|RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	414					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGAGATGGTGGAAAATTCAGT	0.547000													145	101					0	0	0.003610	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045721	142045721	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:142045721C>T	ENST00000390392.3	+	0	360																											CAAGTCGCTTCTCACCTGAAT	0.483000													145	172					0	0	0.003610	0	0
OTOF	9381	broad.mit.edu	37	2	26691317	26691317	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:26691317C>T	ENST00000272371.2	-	33	4175	c.4049G>A	c.(4048-4050)gGa>gAa	p.G1350E	OTOF_ENST00000339598.3_Missense_Mutation_p.G583E|OTOF_ENST00000338581.6_Missense_Mutation_p.G583E|OTOF_ENST00000403946.3_Missense_Mutation_p.G1350E|OTOF_ENST00000402415.3_Missense_Mutation_p.G660E	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1350					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGTCAATTCCAGAGGGCTC	0.562000													31	39					0	0	0.006230	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20222625	20222625	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:20222625G>A	ENST00000361479.5	+	4	1350	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E428K	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	428					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TTCTGACAAGGAAGAAAAAGG	0.318000													16	11					0	0	0.007413	0	0
IBSP	3381	broad.mit.edu	37	4	88732550	88732550	+	Missense_Mutation	SNP	G	G	A	rs144185482		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:88732550G>A	ENST00000226284.5	+	7	509	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	148	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AAAAGAGAAGGAAAGTGATga	0.398000													12	15					0	0	0.001368	0	0
B3GALTL	145173	broad.mit.edu	37	13	31850896	31850896	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:31850896C>T	ENST00000343307.4	+	10	987	c.838C>T	c.(838-840)Cat>Tat	p.H280Y	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	280					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CAAGAAATTTCATGGTGACAG	0.313000													34	30					0	0	0.003755	0	0
CUBN	8029	broad.mit.edu	37	10	17152983	17152983	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:17152983G>A	ENST00000377833.4	-	9	1015	c.950C>T	c.(949-951)tCt>tTt	p.S317F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	317	EGF-like 4; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGAGCCACAGAACAGCCGCC	0.493000													21	23					0	0	0.004656	0	0
TNR	7143	broad.mit.edu	37	1	175365852	175365852	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:175365852C>T	ENST00000367674.1	-	5	1776	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	TNR_ENST00000263525.2_Silent_p.V356V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	356	Fibronectin type-III 1.				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)					GGTAAGAGATCACATATTCCG	0.622000													28	134					0	0	0.008361	0	0
USP7	7874	broad.mit.edu	37	16	8996278	8996278	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:8996278C>T	ENST00000344836.4	-	17	2099	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	USP7_ENST00000381886.4_Missense_Mutation_p.R618Q|USP7_ENST00000535863.1_Missense_Mutation_p.R535Q	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	634	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CATTGCTGGTCGTTTTGTTCC	0.383000													20	26					0	0	0.006320	0	0
DHX40	79665	broad.mit.edu	37	17	57682819	57682819	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:57682819G>T	ENST00000451169.2	+	20	2199	c.1840G>T	c.(1840-1842)Gaa>Taa	p.E614*	DHX40_ENST00000251241.4_Nonsense_Mutation_p.E662*|DHX40_ENST00000425628.3_Nonsense_Mutation_p.E585*			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	662							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCATGAACAGGAAACCAAACT	0.363000													17	14					9.7654e-05	0.000171547	0.007413	1	0
TBC1D2B	23102	broad.mit.edu	37	15	78322493	78322493	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:78322493G>A	ENST00000409931.3	-	4	774	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R235C			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	235						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CTCCCAGGACGGAAAGAAGAC	0.383000													15	15					0	0	0.004007	0	0
MIR381HG	378881	broad.mit.edu	37	14	101512859	101512859	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:101512859C>T	ENST00000553692.1	+	0	28				MIR487B_ENST00000385021.1_RNA																							CAGGGTCATCCACTTTTTCAG	0.488000													20	27					0	0	0.001882	0	0
TRPC3	7222	broad.mit.edu	37	4	122846350	122846350	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:122846350C>T	ENST00000264811.5	-	2	1198	c.780G>A	c.(778-780)cgG>cgA	p.R260R	TRPC3_ENST00000513531.1_Silent_p.R260R|TRPC3_ENST00000379645.3_Silent_p.R333R	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	248					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGAGAGCTTCCGATAGTCAT	0.398000													26	32					0	0	0.003954	0	0
PIK3R2	5296	broad.mit.edu	37	19	18285849	18285849	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:18285849G>A	ENST00000593731.1	+	20	4315		c.e20-1		IFI30_ENST00000407280.2_Splice_Site			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)						fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CTAATCCACAGACAGGCAATC	0.572000													12	13					0	0	0.002450	0	0
ATP7A	538	broad.mit.edu	37	X	77244104	77244104	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:77244104C>T	ENST00000341514.6	+	3	642	c.487C>T	c.(487-489)Cat>Tat	p.H163Y	ATP7A_ENST00000343533.5_Missense_Mutation_p.H163Y|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	163					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TTGTGAAGATCATAGTATGGC	0.423000													88	102					0	0	0.003610	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545447	234545447	+	Silent	SNP	C	C	T	rs142395215	byFrequency	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:234545447C>T	ENST00000344644.5	+	1	348	c.279C>T	c.(277-279)ttC>ttT	p.F93F	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.F93F	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCATGGTTTTCGCCCATGCTC	0.418000													60	65					0	0	0.003610	0	0
TP63	8626	broad.mit.edu	37	3	189612184	189612184	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:189612184C>G	ENST00000264731.3	+	14	2025	c.1936C>G	c.(1936-1938)Ctc>Gtc	p.L646V	TP63_ENST00000382063.4_Missense_Mutation_p.L561V|TP63_ENST00000449992.1_Missense_Mutation_p.L467V|TP63_ENST00000354600.5_Missense_Mutation_p.L552V|TP63_ENST00000440651.2_Missense_Mutation_p.L642V|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000456148.1_Missense_Mutation_p.L548V	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	646	Transactivation inhibition.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCGATTCACCCTCCGCCAGAC	0.562000										HNSCC(45;0.13)			41	50					0	0	0.008740	0	0
TAS1R2	80834	broad.mit.edu	37	1	19168269	19168269	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:19168269G>A	ENST00000375371.3	-	5	1566	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	515					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGATGCACTCGAAGCAGCAGA	0.597000													60	3					0	0	0.003610	0	0
NID1	4811	broad.mit.edu	37	1	236212091	236212091	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:236212091A>G	ENST00000264187.6	-	2	506	c.424T>C	c.(424-426)Ttc>Ctc	p.F142L	NID1_ENST00000366595.3_Missense_Mutation_p.F142L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	142	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	ATCTCCGGGAACCCTCTGTGG	0.587000													38	40					0	0	0.006230	0	0
CHMP4C	92421	broad.mit.edu	37	8	82667641	82667641	+	Silent	SNP	C	C	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:82667641C>A	ENST00000297265.4	+	3	598	c.405C>A	c.(403-405)atC>atA	p.I135I		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	135	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TGCAAGAGATCACAGAGCAAC	0.338000													15	23					1.15088e-07	2.02356e-07	0.004007	1	0
SPTA1	6708	broad.mit.edu	37	1	158645977	158645977	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:158645977G>A	ENST00000368148.3	-	8	1246	c.1066C>T	c.(1066-1068)Cgt>Tgt	p.R356C	SPTA1_ENST00000368147.3_Missense_Mutation_p.R356C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	356					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCAGGGCACGAATATGCTCC	0.483000													255	8					0	0	0.003610	0	0
DENND3	22898	broad.mit.edu	37	8	142186849	142186849	+	Missense_Mutation	SNP	G	G	A	rs112917986		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:142186849G>A	ENST00000519811.1	+	15	2765	c.2695G>A	c.(2695-2697)Gat>Aat	p.D899N	DENND3_ENST00000424248.1_Missense_Mutation_p.D767N|DENND3_ENST00000262585.2_Missense_Mutation_p.D819N			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	819										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)			GAAGCTGGCCGATGACCACAA	0.602000													30	34					0	0	0.002096	0	0
KRT74	121391	broad.mit.edu	37	12	52962062	52962062	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:52962062C>T	ENST00000549343.1	-	8	1326	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	KRT74_ENST00000305620.2_Missense_Mutation_p.E416K			Q7RTS7	K2C74_HUMAN	keratin 74	416	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCCAGCTCCTCCTTGGCCTGG	0.652000													30	33					0	0	0.009535	0	0
DNA2	1763	broad.mit.edu	37	10	70182479	70182479	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:70182479G>A	ENST00000399180.2	-	15	2634	c.2635C>T	c.(2635-2637)Ccc>Tcc	p.P879S	DNA2_ENST00000399179.2_Intron|DNA2_ENST00000358410.3_Missense_Mutation_p.P793S			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	793					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AGCACCAGGGGAGGAAGCTGC	0.413000													13	21					0	0	0.001855	0	0
KCNB2	9312	broad.mit.edu	37	8	73849880	73849880	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:73849880G>A	ENST00000523207.1	+	3	2878	c.2290G>A	c.(2290-2292)Gga>Aga	p.G764R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	764					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)			CCCCTCCCAGGGAGACAGACC	0.582000													33	48					0	0	0.003271	0	0
LGI2	55203	broad.mit.edu	37	4	25028503	25028503	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:25028503G>A	ENST00000382114.4	-	3	513	c.328C>T	c.(328-330)Cat>Tat	p.H110Y		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	110						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TATTCAAGATGAAAAAGTCCA	0.388000													47	37					0	0	0.003610	0	0
TNXB	7148	broad.mit.edu	37	6	32015758	32015758	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32015758C>T	ENST00000375244.3	-	30	10278	c.10077G>A	c.(10075-10077)ggG>ggA	p.G3359G	TNXB_ENST00000375247.2_Silent_p.G3357G			P22105	TENX_HUMAN	tenascin XB	3404	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGTCAGCTCCCCCAGGCGGG	0.622000													119	284					0	0	0.003610	0	0
TAGAP	117289	broad.mit.edu	37	6	159456927	159456927	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:159456927C>T	ENST00000367066.3	-	10	2459	c.2128G>A	c.(2128-2130)Gtg>Atg	p.V710M	RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.V532M|RP1-111C20.4_ENST00000607391.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	710					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.V710M(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CATCGTCGCACGAGACAGTCC	0.577000													4	24					0	0	0.009096	0	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89917457	89917457	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:89917457G>A	ENST00000548729.1	-	3	1163	c.861C>T	c.(859-861)ccC>ccT	p.P287P	POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000413530.1_Intron|GALNT4_ENST00000529983.2_Silent_p.P290P|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					TTTCCTGTTTGGGGACAGAAT	0.443000													26	31					0	0	0.005443	0	0
FRMD8	83786	broad.mit.edu	37	11	65172502	65172502	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:65172502G>A	ENST00000317568.5	+	10	1402	c.1239G>A	c.(1237-1239)cgG>cgA	p.R413R	FRMD8_ENST00000355991.5_Silent_p.R357R|FRMD8_ENST00000416776.2_Silent_p.R379R	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	413						cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						TGTCCAGCCGGATCCAGCATC	0.652000													22	31					0	0	0.005443	0	0
FIBIN	387758	broad.mit.edu	37	11	27016437	27016437	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:27016437G>A	ENST00000318627.2	+	1	810	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	122						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CCTGCGGCGGGAGTCCCACCA	0.612000													17	20					0	0	0.010504	0	0
PIEZO2	63895	broad.mit.edu	37	18	10671737	10671737	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:10671737C>T	ENST00000302079.6	-	51	7856	c.7857G>A	c.(7855-7857)ggG>ggA	p.G2619G	PIEZO2_ENST00000580640.1_Silent_p.G2707G|PIEZO2_ENST00000503781.3_Silent_p.G2682G|PIEZO2_ENST00000538948.1_Silent_p.G639G|PIEZO2_ENST00000285141.4_Silent_p.G474G|PIEZO2_ENST00000581680.1_5'UTR			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2682						integral to membrane	ion channel activity										GGACAAATTTCCCAATCACAA	0.333000													40	30					0	0	0.002522	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049520	36049520	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:36049520C>T	ENST00000282507.3	-	4	415	c.314G>A	c.(313-315)gGa>gAa	p.G105E	UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.G71E|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	105						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAAATTTTCCTCTGTAAGA	0.284000													19	24					0	0	0.001882	0	0
GPR78	27201	broad.mit.edu	37	4	8588889	8588889	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:8588889C>T	ENST00000382487.4	+	3	1308	c.891C>T	c.(889-891)ctC>ctT	p.L297L	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	297					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						ACTCTCTGCTCCGCCGGCCGT	0.662000													14	23					0	0	0.002450	0	0
MUSK	4593	broad.mit.edu	37	9	113563105	113563105	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:113563105G>A	ENST00000416899.2	+	13	2549	c.2423G>A	c.(2422-2424)cGa>cAa	p.R808Q	MUSK_ENST00000374448.4_Missense_Mutation_p.R816Q|MUSK_ENST00000189978.5_Missense_Mutation_p.R816Q			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	816	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TACTACGTGCGAGATGGCAAC	0.557000													13	3					0	0	0.004007	0	0
SUSD1	64420	broad.mit.edu	37	9	114804188	114804188	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:114804188A>C	ENST00000374263.3	-	15	2202	c.2162T>G	c.(2161-2163)cTg>cGg	p.L721R	SUSD1_ENST00000374264.2_Missense_Mutation_p.L756R|SUSD1_ENST00000374270.3_Silent_p.A734A			Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	0						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGATCACAACAGCCAGGGAAC	0.532000													14	0					0	0	0.003163	0	0
PLCB4	5332	broad.mit.edu	37	20	9353693	9353693	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:9353693G>A	ENST00000378501.2	+	9	701		c.e9-1		PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000378493.1_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4						intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTCTTTTCAGCAATGGAGAC	0.289000													9	9					0	0	0.006214	0	0
GPR98	84059	broad.mit.edu	37	5	90103553	90103553	+	Splice_Site	SNP	C	C	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:90103553C>G	ENST00000405460.2	+	73	15067	c.14972_splice	c.e73+1	p.R4991_splice	GPR98_ENST00000425867.2_Splice_Site_p.R652_splice	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4991					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCTCAACTCCGGTAAGACCA	0.483000													28	27					0	0	0.005443	0	0
ACBD5	91452	broad.mit.edu	37	10	27499923	27499923	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:27499923G>A	ENST00000396271.3	-	9	1150	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C	ACBD5_ENST00000375888.1_Missense_Mutation_p.R351C|ACBD5_ENST00000375897.3_Missense_Mutation_p.R165C|ACBD5_ENST00000375905.4_Missense_Mutation_p.R307C|ACBD5_ENST00000375901.1_Missense_Mutation_p.R233C|ACBD5_ENST00000476758.1_5'UTR	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	351					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	p.R307C(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATATCTTCACGAAATCCAGAA	0.418000													71	76					0	0	0.003610	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345210	135345210	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:135345210C>T	ENST00000463117.2	+	5	731	c.459C>T	c.(457-459)ttC>ttT	p.F153F	CYP2E1_ENST00000480558.1_3'UTR|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.F153F			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	153					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	AGGCCCACTTCCTGCTGGAAG	0.622000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				21	19					0	0	0.003330	0	0
HTR1A	3350	broad.mit.edu	37	5	63256305	63256305	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:63256305G>A	ENST00000323865.3	-	1	1475	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	414					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.I414I(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TACACTTAATGATCTTCTTAA	0.507000													89	120					0	0	0.003610	0	0
GALNT14	79623	broad.mit.edu	37	2	31147002	31147002	+	Missense_Mutation	SNP	C	C	T	rs145602304		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:31147002C>T	ENST00000349752.5	-	13	2002	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000356174.3_Missense_Mutation_p.E422K|GALNT14_ENST00000406653.1_Missense_Mutation_p.E435K|GALNT14_ENST00000324589.5_Missense_Mutation_p.E460K|GALNT14_ENST00000420311.2_Missense_Mutation_p.E420K	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	455	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TTTGCATCTTCGCCTTTGACC	0.522000													78	83					0	0	0.003610	0	0
CHRM2	1129	broad.mit.edu	37	7	136700939	136700939	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:136700939T>A	ENST00000445907.2	+	3	1855	c.1327T>A	c.(1327-1329)Tgc>Agc	p.C443S	AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.C443S|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.C443S|CHRM2_ENST00000397608.3_Missense_Mutation_p.C443S|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.C443S|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.C443S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	443					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CTATGCACTTTGCAATGCCAC	0.413000													50	99					0	0	0.003610	0	0
TRIM33	51592	broad.mit.edu	37	1	114942115	114942115	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:114942115G>A	ENST00000358465.2	-	18	3167	c.3084C>T	c.(3082-3084)gtC>gtT	p.V1028V	TRIM33_ENST00000450349.2_Silent_p.V660V|TRIM33_ENST00000369543.2_Silent_p.V1028V	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1028	Bromo.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		AGATCAAACGGACATCGGCCA	0.343000			T	RET	papillary thyroid								164	10					0	0	0.003610	0	0
KIAA1324	57535	broad.mit.edu	37	1	109731707	109731707	+	Silent	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:109731707A>G	ENST00000369939.3	+	10	1422	c.1239A>G	c.(1237-1239)gcA>gcG	p.A413A	KIAA1324_ENST00000529753.1_Silent_p.A326A|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	413					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCTGCCCTGCAGGGACTGAAC	0.532000													65	7					0	0	0.003610	0	0
PACRGL	133015	broad.mit.edu	37	4	20715058	20715058	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:20715058C>T	ENST00000360916.5	+	7	896	c.505C>T	c.(505-507)Cat>Tat	p.H169Y	PACRGL_ENST00000513459.1_Missense_Mutation_p.H116Y|PACRGL_ENST00000295290.8_Missense_Mutation_p.H169Y|PACRGL_ENST00000538990.1_Missense_Mutation_p.H71Y|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000503585.1_Missense_Mutation_p.H169Y|PACRGL_ENST00000507634.1_Missense_Mutation_p.H169Y|PACRGL_ENST00000502374.1_Missense_Mutation_p.H116Y|PACRGL_ENST00000444671.2_Missense_Mutation_p.H71Y	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	169							binding			endometrium(2)|lung(7)|prostate(1)	10						CTTACAGGTCCATTCGGATGA	0.428000													31	21					0	0	0.002836	0	0
PTPRE	5791	broad.mit.edu	37	10	129875896	129875896	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:129875896G>A	ENST00000254667.3	+	19	2020	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	PTPRE_ENST00000306042.5_Missense_Mutation_p.E523K|PTPRE_ENST00000419012.2_Missense_Mutation_p.E581K	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	581	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GGCCCGCCAGGAGGAGCAGGT	0.667000													10	11					0	0	0.001855	0	0
PTCHD2	57540	broad.mit.edu	37	1	11574475	11574475	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:11574475G>A	ENST00000294484.6	+	4	1483	c.1345G>A	c.(1345-1347)Gac>Aac	p.D449N	PTCHD2_ENST00000389575.3_Missense_Mutation_p.D449N	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	449					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGGGGGGACAGACCTGTTTGA	0.517000													52	6					0	0	0.003610	0	0
PNMA5	114824	broad.mit.edu	37	X	152159858	152159858	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:152159858G>A	ENST00000439251.1	-	2	723	c.285C>T	c.(283-285)ccC>ccT	p.P95P	PNMA5_ENST00000452693.1_Silent_p.P95P|PNMA5_ENST00000361887.5_Silent_p.P95P|PNMA5_ENST00000535214.1_Silent_p.P95P	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	95					apoptosis			p.P95P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ctgggttacggggttttacca	0.512000													115	73					0	0	0.003610	0	0
MAP3K19	80122	broad.mit.edu	37	2	135738810	135738810	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:135738810C>T	ENST00000375845.3	-	9	3531	c.3501G>A	c.(3499-3501)acG>acA	p.T1167T	MAP3K19_ENST00000375844.3_Silent_p.T349T|MAP3K19_ENST00000315513.3_Silent_p.T28T|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Silent_p.T299T|MAP3K19_ENST00000392918.3_Silent_p.T301T|MAP3K19_ENST00000358371.4_Silent_p.T1054T	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GTATTTGTTTCGTATATTTAC	0.388000													41	50					0	0	0.003610	0	0
OR6C3	254786	broad.mit.edu	37	12	55725661	55725661	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:55725661C>T	ENST00000379667.1	+	1	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGTATTTCTTCCTCCGGAACT	0.383000													68	79					0	0	0.003610	0	0
CDHR2	54825	broad.mit.edu	37	5	176016107	176016107	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:176016107G>C	ENST00000510636.1	+	22	3206	c.2932G>C	c.(2932-2934)Ggg>Cgg	p.G978R	CDHR2_ENST00000261944.5_Missense_Mutation_p.G978R|CDHR2_ENST00000506348.1_Missense_Mutation_p.G978R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	978	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.G978W(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTCTAAGGACGGGGCCACCAT	0.577000													54	118					0	0	0.003610	0	0
SCN1A	6323	broad.mit.edu	37	2	166929996	166929996	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:166929996C>T	ENST00000423058.2	-	1	153	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.E46K|SCN1A_ENST00000409050.1_Missense_Mutation_p.E46K|SCN1A_ENST00000375405.3_Missense_Mutation_p.E46K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	46						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGGCCATTTTCGTCGTCATCT	0.448000													77	112					0	0	0.003610	0	0
RMST	196475	broad.mit.edu	37	12	97957657	97957657	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:97957657G>A	ENST00000538559.2	+	0	2141				MIR135A2_ENST00000384854.1_RNA																							CTCATGTAGGGATGGAAGCCA	0.378000													8	10					0	0	0.008291	0	0
BNC1	646	broad.mit.edu	37	15	83933330	83933330	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:83933330C>T	ENST00000345382.2	-	4	758	c.673G>A	c.(673-675)Gga>Aga	p.G225R	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.G218R	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	225					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTGGGGTTTCCTTTGTCCACA	0.493000													29	41					0	0	0.008361	0	0
PRSS54	221191	broad.mit.edu	37	16	58314339	58314339	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:58314339C>T	ENST00000219301.4	-	7	1371	c.977G>A	c.(976-978)gGa>gAa	p.G326E	CCDC113_ENST00000219299.4_3'UTR|PRSS54_ENST00000567164.1_Missense_Mutation_p.G326E|PRSS54_ENST00000543437.1_Missense_Mutation_p.G227E|CCDC113_ENST00000443128.2_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	326					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAGCTGTTTCCTAGTCGTGA	0.448000													26	41					0	0	0.005443	0	0
ITIH1	3697	broad.mit.edu	37	3	52816039	52816039	+	Translation_Start_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:52816039G>A	ENST00000537050.1	+	0	371				ITIH1_ENST00000542827.1_Silent_p.K257K|ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000540715.1_Silent_p.K115K|ITIH1_ENST00000273283.2_Silent_p.K257K	NM_001166435.2|NM_001166436.2	NP_001159907.1|NP_001159908.1	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1						hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GGCACTTCAAGGTGACCTACG	0.587000													22	34					0	0	0.010504	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140937	143140937	+	Missense_Mutation	SNP	T	T	G	rs78798389		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:143140937T>G	ENST00000332690.1	+	1	392	c.392T>G	c.(391-393)tTc>tGc	p.F131C	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	131					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CCTGTCTTCTTCTGGCTAAAG	0.493000													126	72					0	0	0.003610	0	0
SCAND3	114821	broad.mit.edu	37	6	28540746	28540746	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:28540746C>T	ENST00000452236.2	-	4	3537	c.2920G>A	c.(2920-2922)Gct>Act	p.A974T		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	974					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gtcattgaagctgcaccatca	0.368000													70	50					0	0	0.003610	0	0
DUOX2	50506	broad.mit.edu	37	15	45387155	45387155	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:45387155G>A	ENST00000389039.6	-	32	4759	c.4374C>T	c.(4372-4374)ttC>ttT	p.F1458F	DUOX2_ENST00000603300.1_Silent_p.F1458F			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1458					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCCTGAGGTCGAACTTCTCAG	0.587000													26	28					0	0	0.009535	0	0
CLDN14	23562	broad.mit.edu	37	21	37833619	37833619	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:37833619G>A	ENST00000399137.1	-	3	1241	c.375C>T	c.(373-375)ttC>ttT	p.F125F	CLDN14_ENST00000399139.1_Silent_p.F125F|AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Silent_p.F125F|CLDN14_ENST00000342108.2_Silent_p.F125F|CLDN14_ENST00000399135.1_Silent_p.F125F	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	125					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						CGGCCAGGATGAAGAGGGTGC	0.647000													22	31					0	0	0.006320	0	0
SMR3A	26952	broad.mit.edu	37	4	71232442	71232442	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:71232442G>A	ENST00000226460.4	+	3	232	c.136G>A	c.(136-138)Gga>Aga	p.G46R		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	46	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TTTTCCTTTTGGAACAGGATT	0.547000													24	57					0	0	0.003330	0	0
PLXNA4	91584	broad.mit.edu	37	7	131870101	131870101	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:131870101C>T	ENST00000359827.3	-	16	4077	c.3115G>A	c.(3115-3117)Gac>Aac	p.D1039N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1039N			Q9HCM2	PLXA4_HUMAN	plexin A4	1039						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATGGTGGGGTCTTCCACATAC	0.552000													65	35					0	0	0.003610	0	0
GPR158	57512	broad.mit.edu	37	10	25701203	25701203	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:25701203C>T	ENST00000376351.3	+	4	1495	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	379						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						CAGCATATTTCAGGAAGTACA	0.468000													48	64					0	0	0.003610	0	0
TSIX	9383	broad.mit.edu	37	X	73046495	73046495	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:73046495C>T	ENST00000604411.1	+	0	34456				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CTTGGGATTTCCCCAGGTCTT	0.443000													72	76					0	0	0.003610	0	0
ZNF502	91392	broad.mit.edu	37	3	44763129	44763129	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:44763129A>G	ENST00000296091.4	+	4	1076	c.820A>G	c.(820-822)Aag>Gag	p.K274E	ZNF502_ENST00000449836.1_Missense_Mutation_p.K274E|ZNF502_ENST00000436624.2_Missense_Mutation_p.K274E	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TAGGTGTGGGAAGGCATTCAA	0.408000													88	112					0	0	0.003610	0	0
ITPR1	3708	broad.mit.edu	37	3	4856858	4856858	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:4856858A>G	ENST00000354582.6	+	58	8128	c.7778A>G	c.(7777-7779)aAg>aGg	p.K2593R	AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000544951.1_Missense_Mutation_p.K571R|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.K2545R|ITPR1_ENST00000443694.2_Missense_Mutation_p.K2593R|ITPR1_ENST00000357086.4_Missense_Mutation_p.K2560R|ITPR1_ENST00000423119.2_Missense_Mutation_p.K2560R|ITPR1_ENST00000302640.8_Missense_Mutation_p.K2593R|AC018816.3_ENST00000489771.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2608					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGGAGTGAGAAGCAGAAGAAG	0.478000													17	28					0	0	0.004007	0	0
BOLL	66037	broad.mit.edu	37	2	198640447	198640447	+	Silent	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:198640447A>G	ENST00000321801.7	-	5	900	c.330T>C	c.(328-330)taT>taC	p.Y110Y	BOLL_ENST00000433157.1_Silent_p.Y98Y|BOLL_ENST00000430004.1_Silent_p.Y98Y|BOLL_ENST00000392296.4_Silent_p.Y98Y|BOLL_ENST00000282278.8_Intron	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	98	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TCTTATCCTTATAATTAAGTT	0.249000													31	46					0	0	0.004289	0	0
DIP2A	23181	broad.mit.edu	37	21	47924366	47924366	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:47924366C>T	ENST00000318711.7	+	6	934	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	DIP2A_ENST00000417564.2_Missense_Mutation_p.R250W|DIP2A_ENST00000427143.2_Missense_Mutation_p.R186W|DIP2A_ENST00000435722.3_Missense_Mutation_p.R250W|DIP2A_ENST00000457905.3_Missense_Mutation_p.R250W|DIP2A_ENST00000400274.1_Missense_Mutation_p.R250W|DIP2A_ENST00000466639.1_Intron	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	250					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		AAGTGTTCCTCGGGGGTGCAG	0.532000													13	18					0	0	0.003163	0	0
HLA-F-AS1	285830	broad.mit.edu	37	6	29713501	29713501	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:29713501G>A	ENST00000458236.1	-	0	97																											AAGACTGTGGGGCTCTGGGGA	0.517000													8	41					0	0	0.003080	0	0
KCTD11	147040	broad.mit.edu	37	17	7256709	7256709	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:7256709G>A	ENST00000333751.3	+	1	1502	c.448G>A	c.(448-450)Gag>Aag	p.E150K	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	150					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				GGATAGGGCAGAGGGGAGCCC	0.642000													26	38					0	0	0.009535	0	0
MIR496	574454	broad.mit.edu	37	14	101526930	101526930	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:101526930G>A	ENST00000385226.1	+	0	21					NR_030176.1																						GTACTCGAATGGAGGTTGTCC	0.517000													5	12					0	0	0.001984	0	0
HCLS1	3059	broad.mit.edu	37	3	121353216	121353216	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:121353216C>T	ENST00000314583.3	-	10	832	c.741G>A	c.(739-741)gaG>gaA	p.E247E	HCLS1_ENST00000428394.2_Silent_p.E210E|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	247					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCCTCTTCTCCTCAGCCATGG	0.557000													37	38					0	0	0.008740	0	0
TRPC6	7225	broad.mit.edu	37	11	101375405	101375405	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:101375405C>T	ENST00000344327.3	-	2	719	c.295G>A	c.(295-297)Gag>Aag	p.E99K	TRPC6_ENST00000360497.4_Missense_Mutation_p.E99K|TRPC6_ENST00000532133.1_Missense_Mutation_p.E99K|TRPC6_ENST00000348423.4_Missense_Mutation_p.E99K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	99					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGCGTTCCTCCTCTATAGAT	0.478000													67	3					0	0	0.003610	0	0
RAB27B	5874	broad.mit.edu	37	18	52546659	52546659	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:52546659G>A	ENST00000262094.5	+	3	734	c.213G>A	c.(211-213)caG>caA	p.Q71Q	RAB27B_ENST00000586594.1_3'UTR	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	71					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TGCATCTTCAGCTTTGGGACA	0.373000													45	39					0	0	0.003610	0	0
ZNF862	643641	broad.mit.edu	37	7	149545301	149545301	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:149545301C>T	ENST00000223210.4	+	4	964	c.719C>T	c.(718-720)cCc>cTc	p.P240L		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCAGATTGCCCCATATTCTAC	0.617000													15	21					0	0	0.003163	0	0
MYEOV	26579	broad.mit.edu	37	11	69063750	69063750	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:69063750G>A	ENST00000535407.1	+	2	1302	c.659G>A	c.(658-660)aGg>aAg	p.R220K	MYEOV_ENST00000308946.3_Missense_Mutation_p.R278K|MYEOV_ENST00000441339.2_Missense_Mutation_p.R278K			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	278										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GGAGTTAGGAGGACTGGCCAG	0.652000													3	6					0	0	0.004672	0	0
PRB3	5544	broad.mit.edu	37	12	11420906	11420906	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:11420906G>A	ENST00000381842.3	-	0	314				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACGAGGTGGGGGACCTTGG	0.632000													111	135					0	0	0.003610	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744319	135744319	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:135744319C>T	ENST00000375845.3	-	7	2153	c.2123G>A	c.(2122-2124)aGg>aAg	p.R708K	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R725K|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R595K	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		ATTGCTCTTCCTCTCACTGTG	0.393000													64	78					0	0	0.003610	0	0
ZNF470	388566	broad.mit.edu	37	19	57088722	57088722	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:57088722G>A	ENST00000330619.8	+	6	1611	c.925G>A	c.(925-927)Gag>Aag	p.E309K	ZNF470_ENST00000391709.3_Missense_Mutation_p.E309K|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TCATACTGGAGAGAAACCTTA	0.438000													37	27					0	0	0.006230	0	0
CSF2RA	1438	broad.mit.edu	37	X	1409240	1409240	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:1409240G>A	ENST00000381524.3	+	7	670	c.484G>A	c.(484-486)Gag>Aag	p.E162K	CSF2RA_ENST00000501036.2_Missense_Mutation_p.E29K|CSF2RA_ENST00000381529.3_Missense_Mutation_p.E162K|CSF2RA_ENST00000355432.3_Missense_Mutation_p.E162K|CSF2RA_ENST00000381500.1_Missense_Mutation_p.E162K|CSF2RA_ENST00000432318.2_Missense_Mutation_p.E162K|CSF2RA_ENST00000361536.3_Missense_Mutation_p.E162K|CSF2RA_ENST00000381509.3_Missense_Mutation_p.E162K|CSF2RA_ENST00000417535.2_Missense_Mutation_p.E162K|CSF2RA_ENST00000355805.2_Missense_Mutation_p.E162K			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	162						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	GAGAAGGAGGGAGATCCGGTG	0.388000													58	104					0	0	0.003610	0	0
MYT1L	23040	broad.mit.edu	37	2	1926650	1926650	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:1926650C>T	ENST00000399161.2	-	10	1638	c.891G>A	c.(889-891)atG>atA	p.M297I	MYT1L_ENST00000428368.2_Missense_Mutation_p.M297I	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	297					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGACGTAATTCATATTTCTAC	0.463000													68	74					0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21228558	21228558	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:21228558C>T	ENST00000233242.1	-	26	11309	c.11182G>A	c.(11182-11184)Gat>Aat	p.D3728N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3728				D -> N (in Ref. 24; AAA51742).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGAATTTATCAGCCAAAACT	0.413000													253	291					0	0	0.003610	0	0
CENPC	1060	broad.mit.edu	37	4	68379911	68379911	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:68379911T>A	ENST00000273853.6	-	8	1575	c.1325A>T	c.(1324-1326)gAa>gTa	p.E442V		NM_001812.2	NP_001803.2			centromere protein C																		ATGTATGTTTTCATCTTTAGA	0.348000													18	16					0	0	0.007413	0	0
NF1	4763	broad.mit.edu	37	17	29592318	29592318	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:29592318C>T	ENST00000358273.4	+	36	5179	c.4796C>T	c.(4795-4797)tCc>tTc	p.S1599F	NF1_ENST00000356175.3_Missense_Mutation_p.S1578F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1599	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTGGGACTTCCAAAGCTGGG	0.313000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			31	32					0	0	0.006999	0	0
PRPH	5630	broad.mit.edu	37	12	49690308	49690308	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:49690308G>A	ENST00000257860.4	+	3	2199	c.700G>A	c.(700-702)Gag>Aag	p.E234K	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	234	Coil 1B.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GCTGCACGAGGAGGTAAGTGG	0.607000											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	17					0	0	0.003163	0	0
MUC7	4589	broad.mit.edu	37	4	71347538	71347538	+	Silent	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:71347538T>C	ENST00000413702.1	+	4	1365	c.1077T>C	c.(1075-1077)ttT>ttC	p.F359F	MUC7_ENST00000456088.1_Silent_p.F359F|MUC7_ENST00000304887.5_Silent_p.F359F	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	359						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TTTCTCGATTTCTTTTATATA	0.363000													21	39					0	0	0.002299	0	0
FBLN5	10516	broad.mit.edu	37	14	92403312	92403312	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:92403312C>T	ENST00000267620.10	-	5	650	c.481G>A	c.(481-483)Gat>Aat	p.D161N	FBLN5_ENST00000556154.1_Missense_Mutation_p.D125N|FBLN5_ENST00000342058.4_Missense_Mutation_p.D120N			Q9UBX5	FBLN5_HUMAN	fibulin 5	120	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TTGCTTTCATCCATCTGGTAT	0.537000													47	49					0	0	0.003610	0	0
THSD7A	221981	broad.mit.edu	37	7	11485733	11485733	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:11485733C>T	ENST00000423059.3	-	13	3270	c.3019G>A	c.(3019-3021)Gat>Aat	p.D1007N	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1007	TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCATTTTGATCGTAGCATGCC	0.423000										HNSCC(18;0.044)			73	194					0	0	0.003610	0	0
TSHR	7253	broad.mit.edu	37	14	81422135	81422135	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:81422135C>T	ENST00000541158.2	+	2	433	c.111C>T	c.(109-111)ttC>ttT	p.F37F	TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000342443.6_Silent_p.F37F|TSHR_ENST00000554435.1_Silent_p.F37F|TSHR_ENST00000554263.1_Silent_p.F37F|TSHR_ENST00000298171.2_Silent_p.F37F			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	37					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AGGAGGACTTCAGAGTCACCT	0.602000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						60	57					0	0	0.003610	0	0
C6orf222	389384	broad.mit.edu	37	6	36291943	36291943	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:36291943G>A	ENST00000437635.2	-	7	1370	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	398										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TTGGAGCATGGAAATGATCTT	0.483000													61	126					0	0	0.003610	0	0
STRN	6801	broad.mit.edu	37	2	37085036	37085036	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:37085036C>T	ENST00000263918.4	-	14	1808	c.1800G>A	c.(1798-1800)gaG>gaA	p.E600E	STRN_ENST00000379213.2_Silent_p.E551E	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	600					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTGGAGCAACCTCAGTTGTAT	0.393000													19	25					0	0	0.002780	0	0
ABCB5	340273	broad.mit.edu	37	7	20725334	20725334	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:20725334G>A	ENST00000404938.2	+	16	2537	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	ABCB5_ENST00000258738.6_Missense_Mutation_p.D184N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	184	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TAAAAAAGCTGATGAACAGAT	0.343000													31	36					0	0	0.003271	0	0
ABCC8	6833	broad.mit.edu	37	11	17483175	17483175	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:17483175G>A	ENST00000302539.4	-	5	902	c.777C>T	c.(775-777)gcC>gcT	p.A259A	ABCC8_ENST00000389817.3_Silent_p.A259A	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	259					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGTTGGTGAGGGCCCTCATGG	0.587000													169	192					0	0	0.003610	0	0
DOT1L	84444	broad.mit.edu	37	19	2216683	2216683	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:2216683C>T	ENST00000398665.3	+	20	2363	c.2327C>T	c.(2326-2328)cCg>cTg	p.P776L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	776						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCTGTCCCCGGCCAAGATT	0.692000													26	23					0	0	0.009535	0	0
FAT1	2195	broad.mit.edu	37	4	187554955	187554955	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:187554955G>A	ENST00000441802.2	-	7	4415	c.4206C>T	c.(4204-4206)ttC>ttT	p.F1402F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1402	Cadherin 12.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTCCACATCGAAGTGACTGT	0.423000										HNSCC(5;0.00058)			29	42					0	0	0.009535	0	0
TCP11	6954	broad.mit.edu	37	6	35087959	35087959	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:35087959G>A	ENST00000311875.5	-	8	1548	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	TCP11_ENST00000512012.1_Silent_p.S364S|TCP11_ENST00000444780.2_Silent_p.S372S|TCP11_ENST00000412155.2_Silent_p.S326S|TCP11_ENST00000244645.3_Silent_p.S302S|TCP11_ENST00000418521.2_Silent_p.S301S|TCP11_ENST00000373979.2_Silent_p.S302S|TCP11_ENST00000373974.4_Silent_p.S331S			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	364					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CTTCCAACAAGGATTTGGTTA	0.438000													20	41					0	0	0.002780	0	0
TRAV4	28689	broad.mit.edu	37	14	22205179	22205179	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:22205179C>T	ENST00000390426.2	+	0	310																											CCCTGTTTATCCCTGCCGACA	0.498000													13	12					0	0	0.002450	0	0
MKL1	57591	broad.mit.edu	37	22	40827451	40827451	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:40827451G>A	ENST00000396617.3	-	6	687	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	MKL1_ENST00000402042.1_Missense_Mutation_p.R33W|MKL1_ENST00000355630.3_Missense_Mutation_p.R33W|MKL1_ENST00000402630.1_Missense_Mutation_p.R33W|MKL1_ENST00000407029.1_Missense_Mutation_p.R33W			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	33	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTCTCCGGCCGGGAACGAATC	0.473000			T	RBM15	acute megakaryocytic leukemia								92	109					0	0	0.003610	0	0
RFX1	5989	broad.mit.edu	37	19	14074027	14074027	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:14074027G>A	ENST00000254325.4	-	19	2865	c.2631C>T	c.(2629-2631)ctC>ctT	p.L877L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	877	Necessary for dimerization.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCAGCCGGATGAGGTGGAAGG	0.667000													11	21					0	0	0.000978	0	0
GPR112	139378	broad.mit.edu	37	X	135431967	135431967	+	Silent	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:135431967A>G	ENST00000394143.1	+	6	6393	c.6102A>G	c.(6100-6102)acA>acG	p.T2034T	GPR112_ENST00000412101.1_Silent_p.T1829T|GPR112_ENST00000370652.1_Silent_p.T2034T|GPR112_ENST00000394141.1_Silent_p.T1829T|GPR112_ENST00000287534.4_Silent_p.T1971T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2034					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTCCTCTACAGTAGAGGTGT	0.453000													46	121					0	0	0.003610	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471868	61471868	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:61471868G>A	ENST00000398019.2	+	8	1467	c.1142G>A	c.(1141-1143)tGa>tAa	p.*381*	SERPINB7_ENST00000546027.1_Silent_p.*381*|SERPINB7_ENST00000336429.2_Silent_p.*381*|SERPINB7_ENST00000540675.1_Silent_p.*364*	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	0					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCTTGCCCTTGAAAATCCAAT	0.403000													25	27					0	0	0.005443	0	0
LRFN5	145581	broad.mit.edu	37	14	42356124	42356124	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:42356124G>A	ENST00000554171.1	+	5	2728	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	LRFN5_ENST00000298119.4_Missense_Mutation_p.R99Q|LRFN5_ENST00000554120.1_Missense_Mutation_p.R99Q			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	99						integral to membrane		p.R99L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCTGACCTACGAAATTTGAGG	0.358000										HNSCC(30;0.082)			39	29					0	0	0.005524	0	0
ZMYM3	9203	broad.mit.edu	37	X	70466457	70466457	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:70466457C>T	ENST00000373988.1	-	14	3017	c.2406G>A	c.(2404-2406)ggG>ggA	p.G802G	ZMYM3_ENST00000373998.1_Intron|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Silent_p.G800G|ZMYM3_ENST00000373984.3_Silent_p.G802G|ZMYM3_ENST00000314425.5_Silent_p.G800G			Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	800					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGCCCAAATTCCCATTTTCCT	0.517000													20	35					0	0	0.003330	0	0
BCAT2	587	broad.mit.edu	37	19	49309780	49309780	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:49309780G>A	ENST00000402551.1	-	4	794	c.174C>T	c.(172-174)tcC>tcT	p.S58S	BCAT2_ENST00000316273.6_Silent_p.S98S|BCAT2_ENST00000598162.1_Silent_p.S98S|BCAT2_ENST00000599246.1_Intron|BCAT2_ENST00000597011.1_Silent_p.S58S|BCAT2_ENST00000545387.2_Intron			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	98						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	CCACCTGCAGGGAGTAGTGGA	0.607000													28	33					0	0	0.009535	0	0
GPR174	84636	broad.mit.edu	37	X	78426648	78426648	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:78426648G>A	ENST00000276077.1	+	1	180	c.144G>A	c.(142-144)atG>atA	p.M48I		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	48						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						ATGGTTATATGAAAGAAACAA	0.368000										HNSCC(63;0.18)			8	9					0	0	0.004482	0	0
TEKT1	83659	broad.mit.edu	37	17	6719154	6719154	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:6719154G>A	ENST00000338694.2	-	4	613	c.485_splice	c.e4+1	p.R162_splice	TEKT1_ENST00000535086.1_Splice_Site_p.R16_splice	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	162					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GAGTCATACCGAATCTGCTCG	0.532000													26	17					0	0	0.008361	0	0
NLRC3	197358	broad.mit.edu	37	16	3602201	3602201	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:3602201C>T	ENST00000301749.7	-	0	2751				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCACATGAGCTCTTTCAGAC	0.542000													14	26					0	0	0.003163	0	0
SGCZ	137868	broad.mit.edu	37	8	13948015	13948015	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:13948015G>A	ENST00000382080.1	-	8	1591	c.876C>T	c.(874-876)taC>taT	p.Y292Y	SGCZ_ENST00000421524.2_Silent_p.Y245Y	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	279					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTGGAGAAAGGTAAAGTTTGC	0.488000													40	67					0	0	0.006230	0	0
NYAP2	57624	broad.mit.edu	37	2	226446677	226446677	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:226446677C>T	ENST00000272907.6	+	4	957	c.544C>T	c.(544-546)Cac>Tac	p.H182Y	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	182																	ACCAAGACCCCACAGCGATGA	0.398000													63	87					0	0	0.003610	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415687	105415687	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:105415687G>A	ENST00000333244.5	-	7	6220	c.6101C>T	c.(6100-6102)aCt>aTt	p.T2034I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2034						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGAGGTCAGTGGTCTTCAG	0.667000													67	38					0	0	0.003610	0	0
CUX2	23316	broad.mit.edu	37	12	111785489	111785489	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:111785489A>T	ENST00000261726.6	+	22	3975	c.3821A>T	c.(3820-3822)gAa>gTa	p.E1274V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1274						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACCGTGAAGGAACTGGAGCTT	0.622000													10	21					0	0	0.006214	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751195	26751195	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:26751195C>T	ENST00000396641.2	+	2	624	c.32C>T	c.(31-33)tCc>tTc	p.S11F	LRRC3B_ENST00000417744.1_Missense_Mutation_p.S11F|LRRC3B_ENST00000456208.2_Missense_Mutation_p.S11F	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	11						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TTAACCCGTTCCCTCTCCATG	0.478000													60	74					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179478624	179478624	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:179478624G>A	ENST00000589042.1	-	263	49610	c.49386C>T	c.(49384-49386)atC>atT	p.I16462I	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.I13894I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.I14821I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.I7589I|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.I7397I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.I7522I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14821	Fibronectin type-III 19.						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)			CGTCTTTAGTGATATCAGAAG	0.428000													56	86					0	0	0.003610	0	0
SATL1	340562	broad.mit.edu	37	X	84363419	84363419	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:84363419G>A	ENST00000509231.1	-	1	635	c.556C>T	c.(556-558)Cca>Tca	p.P186S	SATL1_ENST00000332921.5_5'UTR|SATL1_ENST00000395409.3_5'UTR			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	242	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTCATGTTTGGTTGCCTCAGG	0.552000											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	58					0	0	0.006230	0	0
KMT2D	8085	broad.mit.edu	37	12	49448351	49448351	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:49448351G>A	ENST00000301067.7	-	3	359	c.360C>T	c.(358-360)ttC>ttT	p.F120F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGCCCTCAGGGAAACCAATCT	0.597000													5	8					0	0	0.003080	0	0
GGT1	2678	broad.mit.edu	37	22	25016896	25016896	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:25016896G>A	ENST00000400382.1	+	9	1347	c.592G>A	c.(592-594)Gat>Aat	p.D198N	GGT1_ENST00000406383.2_Missense_Mutation_p.D198N|GGT1_ENST00000400380.1_Missense_Mutation_p.D198N|GGT1_ENST00000466310.1_Intron|GGT1_ENST00000248923.4_Missense_Mutation_p.D198N|GGT1_ENST00000400383.1_Missense_Mutation_p.D198N			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	198					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GTTCTGCCGGGATAGAAAGGT	0.642000													7	16					0	0	0.006214	0	0
UNC79	57578	broad.mit.edu	37	14	94053106	94053106	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:94053106G>A	ENST00000553484.1	+	22	3038	c.2883_splice	c.e22-1	p.E962_splice	UNC79_ENST00000393151.2_Splice_Site_p.E962_splice|UNC79_ENST00000256339.4_Splice_Site_p.E785_splice|UNC79_ENST00000555664.1_Splice_Site_p.E962_splice			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	962						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTTTGTATAGGAAATGGCTAA	0.343000													27	42					0	0	0.008361	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118389458	118389458	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:118389458G>A	ENST00000537242.1	+	0	608				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TTTCAGGGCTGGATCCAGCAG	0.532000													6	4					0	0	0.001168	0	0
STARD8	9754	broad.mit.edu	37	X	67943842	67943842	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:67943842G>A	ENST00000252336.6	+	13	3205	c.2833G>A	c.(2833-2835)Gat>Aat	p.D945N	STARD8_ENST00000374597.3_Missense_Mutation_p.D945N|STARD8_ENST00000374599.3_Missense_Mutation_p.D1025N	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	945	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCAGTCCCTGGATCCGGAACA	0.602000													15	23					0	0	0.002450	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072875	15072875	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:15072875G>A	ENST00000598504.1	-	8	2233	c.874C>T	c.(874-876)Ctc>Ttc	p.L292F	SLC1A6_ENST00000544886.2_Missense_Mutation_p.L292F|SLC1A6_ENST00000430939.2_Missense_Mutation_p.L228F|SLC1A6_ENST00000221742.3_Missense_Mutation_p.L292F|SLC1A6_ENST00000600144.1_Missense_Mutation_p.L292F	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	292					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AAGTCCCTGAGGACTCTGCCC	0.582000													49	44					0	0	0.003610	0	0
ZNF396	252884	broad.mit.edu	37	18	32954069	32954069	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:32954069G>A	ENST00000306346.1	-	2	319	c.188C>T	c.(187-189)tCa>tTa	p.S63L	ZNF396_ENST00000586687.1_Missense_Mutation_p.S63L|ZNF396_ENST00000589332.1_Missense_Mutation_p.S63L	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	63	SCAN box.				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GGGCCCAGGTGAATCCTGGTA	0.592000													19	23					0	0	0.006122	0	0
CCDC37	348807	broad.mit.edu	37	3	126153205	126153205	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:126153205G>A	ENST00000393425.1	+	15	1711	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K	CCDC37_ENST00000352312.1_Missense_Mutation_p.E537K|CCDC37_ENST00000505024.1_Missense_Mutation_p.E538K|CCDC37_ENST00000506204.1_3'UTR			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	537										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GAGGGCAAAGGAGAAGGAGCG	0.622000													13	20					0	0	0.001855	0	0
CACNA1E	777	broad.mit.edu	37	1	181686331	181686331	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:181686331T>G	ENST00000526775.1	+	11	1583	c.1418T>G	c.(1417-1419)gTt>gGt	p.V473G	CACNA1E_ENST00000367570.1_Missense_Mutation_p.V473G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V473G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V424G|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V424G|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V80G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V473G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	473					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCCACATGGTTAAATCCCAG	0.537000													137	3					0	0	0.003610	0	0
FLT3	2322	broad.mit.edu	37	13	28589385	28589385	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:28589385G>A	ENST00000380982.4	-	22	2752	c.2671C>T	c.(2671-2673)Cct>Tct	p.P891S	FLT3_ENST00000241453.7_Missense_Mutation_p.P888S|FLT3_ENST00000537084.1_Missense_Mutation_p.P847S			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	888	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.G885fs*4(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGGGTAAGGATTCACACCT	0.353000			"""Mis, O"""		"""AML, ALL"""								6	9					0	0	0.001984	0	0
SLX4	84464	broad.mit.edu	37	16	3640116	3640116	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:3640116G>A	ENST00000294008.3	-	12	4163	c.3523C>T	c.(3523-3525)Cct>Tct	p.P1175S		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1175	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCTTCCAGAGGATCACTAGAA	0.453000								Direct reversal of damage					41	66					0	0	0.003610	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159609905	159609905	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:159609905C>T	ENST00000337808.6	+	7	1915	c.1338C>T	c.(1336-1338)gtC>gtT	p.V446V	SCHIP1_ENST00000445224.2_Silent_p.V203V|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.V495V|IQCJ-SCHIP1_ENST00000460298.1_Silent_p.V406V|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.V522V|SCHIP1_ENST00000482804.1_Silent_p.V219V|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.V433V|IQCJ-SCHIP1_ENST00000527095.1_Silent_p.V214V	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		446						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AAGAGTTGGTCCAGCTGCTTC	0.448000													28	31					0	0	0.008361	0	0
LILRA4	23547	broad.mit.edu	37	19	54849831	54849831	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:54849831C>T	ENST00000291759.4	-	3	247	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	64	Ig-like C2-type 1.					integral to membrane	receptor activity	p.G64E(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CATTGAGTTTCCCTCTTTATC	0.542000													47	50					0	0	0.003610	0	0
ITGB5	3693	broad.mit.edu	37	3	124538681	124538681	+	Splice_Site	SNP	C	C	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:124538681C>A	ENST00000296181.4	-	7	1239	c.942_splice	c.e7-1	p.D315_splice	ITGB5_ENST00000488466.1_Intron	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	315	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GATGGATAGTCCTAGGGCCAA	0.468000													37	65					2.40579e-17	4.25319e-17	0.006230	1	0
TEX19	400629	broad.mit.edu	37	17	80320057	80320057	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:80320057G>A	ENST00000333437.4	+	2	341	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	11						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GCGGTATGAGGAAGAGGGCAT	0.567000													52	65					0	0	0.003610	0	0
UMOD	7369	broad.mit.edu	37	16	20360449	20360449	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:20360449G>A	ENST00000396134.2	-	4	396	c.273C>T	c.(271-273)ggC>ggT	p.G91G	UMOD_ENST00000570689.1_Silent_p.G58G|UMOD_ENST00000396142.2_Silent_p.G58G|UMOD_ENST00000396138.4_Silent_p.G107G|UMOD_ENST00000424589.1_Silent_p.G91G|UMOD_ENST00000302509.4_Silent_p.G58G	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	58	EGF-like 2; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCAGGCCATCGCCGGTGAAGC	0.597000													8	10					0	0	0.004482	0	0
ALPK3	57538	broad.mit.edu	37	15	85383851	85383851	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:85383851G>A	ENST00000258888.5	+	5	2114	c.1947G>A	c.(1945-1947)aaG>aaA	p.K649K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	649					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGAGTCCCAAGGGGAAGGCAC	0.647000													16	15					0	0	0.003163	0	0
CHST15	51363	broad.mit.edu	37	10	125805533	125805533	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:125805533C>T	ENST00000346248.5	-	2	838	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	CHST15_ENST00000435907.1_Missense_Mutation_p.E66K|CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000421115.1_Missense_Mutation_p.E66K	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	66					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CCCCAGTTTTCGTTCCCTTCA	0.463000													25	34					0	0	0.004656	0	0
CDHR1	92211	broad.mit.edu	37	10	85968030	85968030	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:85968030G>A	ENST00000372117.3	+	11	1167	c.1064G>A	c.(1063-1065)gGa>gAa	p.G355E	CDHR1_ENST00000440770.2_Missense_Mutation_p.G114E|CDHR1_ENST00000332904.3_Missense_Mutation_p.G355E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	355					homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACATTCTATGGAGAGAGCGGA	0.592000													17	22					0	0	0.007413	0	0
LRP1B	53353	broad.mit.edu	37	2	141299464	141299464	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:141299464C>T	ENST00000389484.3	-	44	8242	c.7271G>A	c.(7270-7272)gGa>gAa	p.G2424E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2424					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCTCTTCTTCCCCAGTCCGA	0.408000										TSP Lung(27;0.18)			23	31					0	0	0.002299	0	0
POU5F1	5460	broad.mit.edu	37	6	31138094	31138094	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:31138094C>T	ENST00000259915.8	-	1	376	c.304G>A	c.(304-306)Ggg>Agg	p.G102R	POU5F1_ENST00000441888.3_Intron	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	102					anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						CTCTCCACCCCGACTCCTGCT	0.662000			T	EWSR1	sarcoma								9	37					0	0	0.008291	0	0
FHL1	2273	broad.mit.edu	37	X	135289978	135289978	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:135289978C>T	ENST00000543669.1	+	4	1070	c.359C>T	c.(358-360)aCc>aTc	p.T120I	FHL1_ENST00000535737.1_Missense_Mutation_p.T120I|FHL1_ENST00000394153.2_Missense_Mutation_p.T120I|FHL1_ENST00000370676.3_Missense_Mutation_p.T136I|FHL1_ENST00000394155.2_Missense_Mutation_p.T120I|FHL1_ENST00000370690.3_Missense_Mutation_p.T120I|FHL1_ENST00000370683.1_Missense_Mutation_p.T136I|FHL1_ENST00000345434.3_Missense_Mutation_p.T120I|FHL1_ENST00000539015.1_Missense_Mutation_p.T149I	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	120	LIM zinc-binding 2.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					TACAAGGGGACCGTCTGGCAC	0.557000													17	39					0	0	0.007413	0	0
OR1L3	26735	broad.mit.edu	37	9	125437783	125437783	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:125437783C>T	ENST00000304820.2	+	1	469	c.375C>T	c.(373-375)gcC>gcT	p.A125A		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GCTGTGTAGCCATTTGTAACC	0.443000													66	3					0	0	0.003610	0	0
GPR115	221393	broad.mit.edu	37	6	47682281	47682281	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:47682281G>A	ENST00000283303.2	+	6	1558	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	GPR115_ENST00000371220.1_Missense_Mutation_p.E491K|GPR115_ENST00000327753.3_Missense_Mutation_p.E434K	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	434					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						GGTTGTGACGGAGATATCATA	0.483000													49	73					0	0	0.003610	0	0
OR2M7	391196	broad.mit.edu	37	1	248487244	248487244	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:248487244G>A	ENST00000317965.2	-	1	655	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			TTGCAACAGGGAAAACAAGCA	0.418000													434	15					0	0	0.003610	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136969	40136969	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:40136969G>A	ENST00000278198.2	-	2	2837	c.874C>T	c.(874-876)Cat>Tat	p.H292Y	LRRC4C_ENST00000530763.1_Missense_Mutation_p.H292Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H292Y|LRRC4C_ENST00000528697.1_Missense_Mutation_p.H292Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	292					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CGCTCTAGATGATGCAAGGGA	0.468000													55	55					0	0	0.003610	0	0
DLGAP3	58512	broad.mit.edu	37	1	35365784	35365784	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:35365784C>T	ENST00000373347.1	-	4	1466	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	DLGAP3_ENST00000235180.4_Missense_Mutation_p.A400T			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	400					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCCCCCATGGCTTTGATGTAG	0.647000													77	4					0	0	0.003610	0	0
FAM47B	170062	broad.mit.edu	37	X	34961803	34961803	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:34961803G>A	ENST00000329357.5	+	1	891	c.855G>A	c.(853-855)ccG>ccA	p.P285P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	285	Pro-rich.									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						ATCTCTGCCCGGAGCCTCCCG	0.622000													32	35					0	0	0.002836	0	0
LRP1B	53353	broad.mit.edu	37	2	141458014	141458014	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:141458014G>A	ENST00000389484.3	-	41	7575	c.6604C>T	c.(6604-6606)Ctt>Ttt	p.L2202F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2202					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCAGAAAGATGTATACTT	0.363000										TSP Lung(27;0.18)			33	48					0	0	0.002096	0	0
FLRT2	23768	broad.mit.edu	37	14	86088939	86088939	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:86088939C>T	ENST00000330753.4	+	2	1848	c.1081C>T	c.(1081-1083)Ccc>Tcc	p.P361S	FLRT2_ENST00000554746.1_Missense_Mutation_p.P361S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	361	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTTGTCCTGTCCCACCACGAC	0.557000													66	57					0	0	0.003610	0	0
SAMD7	344658	broad.mit.edu	37	3	169639116	169639116	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:169639116G>A	ENST00000428432.2	+	4	590	c.201G>A	c.(199-201)cgG>cgA	p.R67R	SAMD7_ENST00000335556.3_Silent_p.R67R	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	67										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGTCCAGTCGGATCTACCCAG	0.428000													24	25					0	0	0.003330	0	0
LCT	3938	broad.mit.edu	37	2	136566641	136566641	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:136566641C>T	ENST00000264162.2	-	8	3286	c.3276G>A	c.(3274-3276)agG>agA	p.R1092R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1092	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CGTGGGCTATCCTATATGGTG	0.537000													26	29					0	0	0.004656	0	0
EMB	133418	broad.mit.edu	37	5	49707186	49707186	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:49707186G>A	ENST00000303221.5	-	3	443	c.228C>T	c.(226-228)atC>atT	p.I76I	EMB_ENST00000508934.1_Intron|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Silent_p.I26I	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	76	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTTCTAAAGTGATATTTTTTT	0.333000													40	41					0	0	0.003214	0	0
CEP68	23177	broad.mit.edu	37	2	65296935	65296935	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:65296935G>A	ENST00000377990.2	+	2	560	c.357_splice	c.e2+1	p.Q119_splice	CEP68_ENST00000537589.1_Intron|CEP68_ENST00000546106.1_Splice_Site_p.Q119_splice|CEP68_ENST00000260569.4_Splice_Site_p.Q119_splice	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	119					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGGAAAGCCAGGTAGGTACTA	0.552000													35	52					0	0	0.004289	0	0
KDM6A	7403	broad.mit.edu	37	X	44950036	44950036	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:44950036C>T	ENST00000377967.4	+	26	3846	c.3805C>T	c.(3805-3807)Ccc>Tcc	p.P1269S	KDM6A_ENST00000382899.4_Missense_Mutation_p.P1276S|KDM6A_ENST00000543216.1_Missense_Mutation_p.P1190S|KDM6A_ENST00000536777.1_Missense_Mutation_p.P1224S	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1269					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTCAATAGTACCCATGGTTCA	0.368000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								38	50					0	0	0.006230	0	0
SORL1	6653	broad.mit.edu	37	11	121384872	121384872	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:121384872C>T	ENST00000260197.7	+	8	1182	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	351					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AATATTACATCGCAGATGCCT	0.438000													25	3					0	0	0.008361	0	0
FAM83B	222584	broad.mit.edu	37	6	54805936	54805936	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:54805936G>A	ENST00000306858.7	+	5	2283	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	723										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GGATGAGGAGGAAGTTACCAA	0.403000													25	38					0	0	0.007291	0	0
ANO5	203859	broad.mit.edu	37	11	22257816	22257816	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:22257816C>T	ENST00000324559.8	+	8	1073	c.756C>T	c.(754-756)ctC>ctT	p.L252L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	252						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTATCCACTCCATGATGTAT	0.383000													16	22					0	0	0.004990	0	0
PPEF2	5470	broad.mit.edu	37	4	76782056	76782056	+	Missense_Mutation	SNP	C	C	T	rs138073376	by1000genomes	TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:76782056C>T	ENST00000286719.7	-	17	2382	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	676	EF-hand 2.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCCTGAACTCGTCCAGTGAG	0.428000													30	43					0	0	0.003755	0	0
YIPF1	54432	broad.mit.edu	37	1	54332570	54332570	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:54332570G>A	ENST00000072644.1	-	8	845	c.509C>T	c.(508-510)gCc>gTc	p.A170V	YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.A195V	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	170						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						CCAGGCATAGGCATAGATGAT	0.453000													55	2					0	0	0.003610	0	0
KMT2A	4297	broad.mit.edu	37	11	118344107	118344107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:118344107C>T	ENST00000534358.1	+	3	2256	c.2233C>T	c.(2233-2235)Cga>Tga	p.R745*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R745*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R745*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TAGTCCTATTCGATCTGAACC	0.438000													43	3					0	0	0.003214	0	0
C6orf195	154386	broad.mit.edu	37	6	2623697	2623697	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:2623697C>T	ENST00000296847.3	-	3	883	c.360G>A	c.(358-360)agG>agA	p.R120R		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	120										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TGCTAATCTCCCTCTGACGGA	0.488000													17	43					0	0	0.007413	0	0
GDPD5	81544	broad.mit.edu	37	11	75152259	75152259	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:75152259G>A	ENST00000526177.1	-	10	2886	c.1008C>T	c.(1006-1008)acC>acT	p.T336T	GDPD5_ENST00000376282.3_Silent_p.T355T|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000336898.3_Silent_p.T474T|GDPD5_ENST00000533784.1_Silent_p.T355T|GDPD5_ENST00000533805.1_Silent_p.T229T|GDPD5_ENST00000529721.1_Silent_p.T474T			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	474	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGTTGTCAGAGGTGACGGATG	0.642000													7	19					0	0	0.001984	0	0
SLC28A2	9153	broad.mit.edu	37	15	45554282	45554282	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:45554282C>T	ENST00000347644.3	+	4	305	c.240C>T	c.(238-240)atC>atT	p.I80I	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	80					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TCAAGAAGATCCTGTTGGGCC	0.408000													50	77					0	0	0.003610	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131530	142131530	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:142131530C>T	ENST00000390375.2	-	0	265																											AGTTGCCTCTCTGTCTCTCTT	0.532000													40	89					0	0	0.007835	0	0
SMIM14	201895	broad.mit.edu	37	4	39606742	39606742	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:39606742G>A	ENST00000295958.4	-	2	410	c.24C>T	c.(22-24)ccC>ccT	p.P8P	SMIM14_ENST00000510628.1_Intron|SMIM14_ENST00000511809.1_Silent_p.P8P	NM_174921.1	NP_777581.1			small integral membrane protein 14																		CACATTCACAGGGATCAAATC	0.388000													26	33					0	0	0.002096	0	0
CNR2	1269	broad.mit.edu	37	1	24201950	24201950	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:24201950G>A	ENST00000536471.1	-	3	416	c.158C>T	c.(157-159)gCt>gTt	p.A53V	CNR2_ENST00000374472.4_Missense_Mutation_p.A53V			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	53					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	ATAGAGCACAGCCACGTTCTC	0.562000													49	2					0	0	0.003610	0	0
C3orf56	285311	broad.mit.edu	37	3	126916203	126916203	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:126916203C>T	ENST00000398112.1	+	2	915	c.675C>T	c.(673-675)tcC>tcT	p.S225S		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CGGGCTGCTCCCGCTCCTCCT	0.627000													6	6					0	0	0.001984	0	0
NEB	4703	broad.mit.edu	37	2	152512466	152512466	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:152512466C>T	ENST00000397345.3	-	50	6769	c.6567G>A	c.(6565-6567)gtG>gtA	p.V2189V	NEB_ENST00000409198.1_Silent_p.V2189V|NEB_ENST00000603639.1_Silent_p.V2189V|NEB_ENST00000604864.1_Silent_p.V2189V|NEB_ENST00000172853.10_Silent_p.V2189V|NEB_ENST00000427231.2_Silent_p.V2189V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2189					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGCCTTCTCCACTTCCAGAG	0.428000													28	41					0	0	0.002096	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685969	108685969	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:108685969C>A	ENST00000312143.7	-	3	1134	c.771G>T	c.(769-771)aaG>aaT	p.K257N	CMKLR1_ENST00000412676.1_Missense_Mutation_p.K257N|CMKLR1_ENST00000550402.1_Missense_Mutation_p.K257N|CMKLR1_ENST00000552995.1_Missense_Mutation_p.K255N|CMKLR1_ENST00000397688.2_Missense_Mutation_p.K255N	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	257					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCTTGAAGGGCTTCTTGGTCT	0.547000													16	33					0.00498961	0.00873745	0.004990	1	0
MID1	4281	broad.mit.edu	37	X	10463689	10463689	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:10463689C>T	ENST00000317552.4	-	4	1199	c.799G>A	c.(799-801)Gat>Aat	p.D267N	MID1_ENST00000380785.1_Missense_Mutation_p.D267N|MID1_ENST00000380787.1_Missense_Mutation_p.D267N|MID1_ENST00000380782.2_Missense_Mutation_p.D267N|MID1_ENST00000453318.2_Missense_Mutation_p.D267N|MID1_ENST00000380779.1_Missense_Mutation_p.D267N|MID1_ENST00000380780.1_Missense_Mutation_p.D267N	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	267					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ATGAGAAGATCACACTCCTCT	0.383000													31	45					0	0	0.007835	0	0
FOXK2	3607	broad.mit.edu	37	17	80540787	80540787	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:80540787C>T	ENST00000335255.5	+	5	1254	c.1080C>T	c.(1078-1080)acC>acT	p.T360T		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	360					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GCTTTAGAACCCCTCTGGGAC	0.468000													9	20					0	0	0.000978	0	0
MYH13	8735	broad.mit.edu	37	17	10212982	10212982	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:10212982C>T	ENST00000418404.3	-	33	4985	c.4822G>A	c.(4822-4824)Gaa>Aaa	p.E1608K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1608K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1608K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1608					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGCGGATTTCAGCATCCAGC	0.557000													8	13					0	0	0.003080	0	0
AFF4	27125	broad.mit.edu	37	5	132232341	132232341	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:132232341G>A	ENST00000265343.5	-	11	2360	c.1981C>T	c.(1981-1983)Cct>Tct	p.P661S	AFF4_ENST00000378595.3_Missense_Mutation_p.P661S	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	661					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGAGGAAGGAGGAAGGCTC	0.418000													40	37					0	0	0.008740	0	0
CATSPERB	79820	broad.mit.edu	37	14	92076898	92076898	+	Missense_Mutation	SNP	A	A	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:92076898A>C	ENST00000256343.3	-	21	2680	c.2524T>G	c.(2524-2526)Ttt>Gtt	p.F842V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	842					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AATGGGATAAATTTGCTAGGA	0.378000													25	42					0	0	0.003954	0	0
MCTP2	55784	broad.mit.edu	37	15	94910902	94910902	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:94910902G>C	ENST00000357742.4	+	10	1370	c.1370G>C	c.(1369-1371)tGt>tCt	p.C457S	MCTP2_ENST00000331706.4_Missense_Mutation_p.C45S|MCTP2_ENST00000557742.1_Missense_Mutation_p.C45S|MCTP2_ENST00000451018.3_Missense_Mutation_p.C457S	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	457					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CTGGACAGCTGTCTGGGGGCT	0.527000													9	84					0	0	0.006214	0	0
PTPRT	11122	broad.mit.edu	37	20	40790031	40790031	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:40790031C>T	ENST00000373198.3	-	18	2944	c.2709G>A	c.(2707-2709)atG>atA	p.M903I	PTPRT_ENST00000356100.2_Missense_Mutation_p.M890I|PTPRT_ENST00000373201.1_Missense_Mutation_p.M871I|PTPRT_ENST00000373187.1_Missense_Mutation_p.M881I|PTPRT_ENST00000373184.1_Missense_Mutation_p.M871I|PTPRT_ENST00000373190.1_Missense_Mutation_p.M880I|PTPRT_ENST00000373193.3_Missense_Mutation_p.M884I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	881	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCCTCTCTTCATCTGCGTGA	0.562000													22	29					0	0	0.003330	0	0
ARID5B	84159	broad.mit.edu	37	10	63852711	63852711	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:63852711C>T	ENST00000279873.7	+	10	3899	c.3489C>T	c.(3487-3489)taC>taT	p.Y1163Y	ARID5B_ENST00000309334.5_Silent_p.Y920Y	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1163					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACAGCATTTACCCTTTAGCTG	0.488000													42	56					0	0	0.006999	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714972	65714972	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:65714972G>A	ENST00000532620.1	+	0	907							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						TGAGGAGGCCGAGAGGGGTCT	0.657000													17	23					0	0	0.010504	0	0
DKK3	27122	broad.mit.edu	37	11	11987475	11987475	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:11987475C>T	ENST00000396505.2	-	7	949	c.711G>A	c.(709-711)gaG>gaA	p.E237E	DKK3_ENST00000326932.4_Silent_p.E237E|DKK3_ENST00000450094.2_Silent_p.E209E|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000525493.1_Silent_p.E237E	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	237	DKK-type Cys-2.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		AAAGCTCGCCCTCCACGGGCA	0.652000													11	13					0	0	0.000978	0	0
AC005863.1	0	broad.mit.edu	37	17	14683469	14683469	+	RNA	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:14683469T>G	ENST00000379640.1	-	0	51																											ATCCCTGGCTTGTGCAGGAGA	0.562000													39	40					0	0	0.002852	0	0
SATB1	6304	broad.mit.edu	37	3	18427891	18427891	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:18427891C>T	ENST00000338745.6	-	8	3153	c.1419_splice	c.e8+1	p.Q473_splice	SATB1_ENST00000454909.2_Splice_Site_p.Q473_splice|SATB1_ENST00000417717.2_Splice_Site_p.Q473_splice|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	473					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GAGACCGCACCTGGGGAGGAC	0.478000													43	64					0	0	0.003610	0	0
RNF213	57674	broad.mit.edu	37	17	78327410	78327410	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:78327410G>A	ENST00000582970.1	+	34	10665	c.10522G>A	c.(10522-10524)Gaa>Aaa	p.E3508K	RNF213_ENST00000508628.2_Missense_Mutation_p.E3557K|RNF213_ENST00000336301.6_Missense_Mutation_p.E1581K|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGAGGCCATGGAAACAGAAAG	0.582000													21	25					0	0	0.001882	0	0
SETD1A	9739	broad.mit.edu	37	16	30976205	30976205	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:30976205C>T	ENST00000262519.8	+	7	1828	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CGCCATACTTCCTACCCACCA	0.557000													77	119					0	0	0.003610	0	0
PCDHA7	56141	broad.mit.edu	37	5	140216051	140216051	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140216051G>A	ENST00000525929.1	+	1	2083	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.D695N|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCTGGTGGATGTCAACGT	0.637000													41	48					0	0	0.009718	0	0
CCDC135	84229	broad.mit.edu	37	16	57755588	57755588	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:57755588G>A	ENST00000360716.3	+	10	1437	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	CCDC135_ENST00000336825.8_Missense_Mutation_p.D341N|CCDC135_ENST00000394337.4_Missense_Mutation_p.D406N			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	406						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGGCAAGGAGGATGAGGATAA	0.532000													22	32					0	0	0.008361	0	0
DNAH7	56171	broad.mit.edu	37	2	196722110	196722110	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:196722110G>A	ENST00000312428.6	-	44	8505	c.8405C>T	c.(8404-8406)tCa>tTa	p.S2802L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2802	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTATCATATGAATCCATTGC	0.343000													40	37					0	0	0.009718	0	0
IRF8	3394	broad.mit.edu	37	16	85954808	85954808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:85954808C>T	ENST00000268638.5	+	9	1623	c.1201C>T	c.(1201-1203)Cag>Tag	p.Q401*	IRF8_ENST00000562492.1_Nonsense_Mutation_p.Q197*	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	401					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCCGCCAGACCAGGTCTTCCG	0.572000													30	28					0	0	0.007291	0	0
CCDC38	120935	broad.mit.edu	37	12	96292419	96292419	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:96292419G>A	ENST00000344280.3	-	6	1017	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	154								p.L154I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCATCTTGGAGCTTTTTCTCT	0.403000													52	40					0	0	0.003610	0	0
CXCR3	2833	broad.mit.edu	37	X	70837017	70837017	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:70837017A>G	ENST00000373691.4	-	2	609	c.446T>C	c.(445-447)cTg>cCg	p.L149P	CXCR3_ENST00000373693.3_Missense_Mutation_p.L102P	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	102					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					TGTCAGCACCAGCAGCGTGTC	0.647000													7	17					0	0	0.004482	0	0
BAGE2	85319	broad.mit.edu	37	21	11038949	11038949	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:11038949G>A	ENST00000470054.1	-	0	1254									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCTGATAATGAAAATGATGA	0.423000													38	441					0	0	0.005524	0	0
GLRB	2743	broad.mit.edu	37	4	158060056	158060056	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:158060056G>A	ENST00000264428.4	+	7	976	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	GLRB_ENST00000509282.1_Missense_Mutation_p.E236K|GLRB_ENST00000541722.1_Missense_Mutation_p.E236K|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	236					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TATCAAAAAGGAAGATATTGA	0.299000													39	55					0	0	0.005524	0	0
OR52E6	390078	broad.mit.edu	37	11	5862509	5862509	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5862509G>A	ENST00000329322.5	-	1	618	c.619C>T	c.(619-621)Ctc>Ttc	p.L207F	OR52E6_ENST00000379946.2_Missense_Mutation_p.L211F|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATAACAAGAGAGAAATACTG	0.473000													21	36					0	0	0.008871	0	0
BOD1	91272	broad.mit.edu	37	5	173040185	173040185	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:173040185G>A	ENST00000311086.4	-	2	534	c.311C>T	c.(310-312)cCt>cTt	p.P104L	BOD1_ENST00000480951.1_Intron|BOD1_ENST00000285908.5_Missense_Mutation_p.P104L|BOD1_ENST00000471339.1_5'UTR	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	104					cell division|mitosis	condensed chromosome kinetochore|microtubule organizing center				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GTTCATCGTAGGATTCCATTC	0.413000													66	67					0	0	0.003610	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795311	100795311	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:100795311C>T	ENST00000361529.3	+	5	654	c.576C>T	c.(574-576)tcC>tcT	p.S192S	SLC25A47_ENST00000557052.1_Silent_p.S46S	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	192					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						ACGGCCACTCCTTTGCCACCT	0.697000													33	31					0	0	0.006999	0	0
CCDC63	160762	broad.mit.edu	37	12	111321968	111321968	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:111321968G>A	ENST00000308208.5	+	8	1230	c.988G>A	c.(988-990)Gag>Aag	p.E330K	CCDC63_ENST00000545036.1_Missense_Mutation_p.E290K|CCDC63_ENST00000552694.1_Missense_Mutation_p.E251K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	330										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TCTGGCCAAGGAGGAGAAGAA	0.532000													28	31					0	0	0.007291	0	0
RMDN2	151393	broad.mit.edu	37	2	38179109	38179109	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:38179109C>T	ENST00000407257.1	+	2	898	c.751C>T	c.(751-753)Cct>Tct	p.P251S	RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.P251S|RMDN2_ENST00000354545.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000234195.3_Missense_Mutation_p.P251S|RMDN2_ENST00000417700.2_Intron					regulator of microtubule dynamics 2																		TTTCCTTCATCCTCGTCCTGA	0.398000													38	52					0	0	0.006999	0	0
CYP3A5	1577	broad.mit.edu	37	7	99273791	99273791	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:99273791T>C	ENST00000343703.5	-	3	468	c.82A>G	c.(82-84)Att>Gtt	p.I28V	CYP3A5_ENST00000222982.4_Missense_Mutation_p.I38V|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000439761.1_Missense_Mutation_p.I38V					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					GGCCCTGGAATTCCCAGTCTC	0.453000													39	73					0	0	0.002522	0	0
UNC79	57578	broad.mit.edu	37	14	94048633	94048633	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:94048633C>T	ENST00000553484.1	+	20	2900	c.2746C>T	c.(2746-2748)Cct>Tct	p.P916S	UNC79_ENST00000393151.2_Missense_Mutation_p.P916S|UNC79_ENST00000256339.4_Missense_Mutation_p.P739S|UNC79_ENST00000555664.1_Missense_Mutation_p.P916S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	916						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGAGGAGAATCCTGCAAGCAA	0.572000													11	24					0	0	0.000978	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140536746	140536746	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:140536746C>T	ENST00000539533.1	+	1	1170	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L																								AAGACCATCTCCCTTTCCTTC	0.453000													8	7					0	0	0.003080	0	0
SLC17A3	10786	broad.mit.edu	37	6	25849679	25849679	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:25849679G>A	ENST00000397060.4	-	11	1394	c.1285C>T	c.(1285-1287)Ctc>Ttc	p.L429F	SLC17A3_ENST00000360657.3_Missense_Mutation_p.L351F|SLC17A3_ENST00000361703.6_Missense_Mutation_p.L351F	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	351					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GCTCCCATGAGAAAACTGGAA	0.428000													18	27					0	0	0.002780	0	0
F2RL2	2151	broad.mit.edu	37	5	75914364	75914364	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:75914364C>T	ENST00000296641.4	-	2	371	c.168G>A	c.(166-168)ttG>ttA	p.L56L	F2RL2_ENST00000504899.1_Silent_p.L34L|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000274364.6_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	56					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TCCAGCCTTCCAAGGCAGAAA	0.448000													72	77					0	0	0.003610	0	0
ARMC4	55130	broad.mit.edu	37	10	28284008	28284008	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:28284008C>T	ENST00000305242.5	-	2	156	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	22							binding	p.E22K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGGGTGATTTCGAGGATTCCA	0.453000													15	35					0	0	0.004990	0	0
OR52N4	390072	broad.mit.edu	37	11	5776411	5776411	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5776411G>A	ENST00000317254.3	+	1	489	c.441G>A	c.(439-441)ggG>ggA	p.G147G	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CAAAGGTTGGGACTGCCACCT	0.493000													51	53					0	0	0.003610	0	0
TNXB	7148	broad.mit.edu	37	6	32053851	32053851	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32053851G>A	ENST00000375244.3	-	7	3025	c.2824C>T	c.(2824-2826)Ccc>Tcc	p.P942S	TNXB_ENST00000375247.2_Missense_Mutation_p.P942S			P22105	TENX_HUMAN	tenascin XB	1030	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGCCTGAGGGAGGAGGCTCA	0.627000													57	123					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9065829	9065829	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:9065829G>A	ENST00000397910.4	-	3	21820	c.21617C>T	c.(21616-21618)tCc>tTc	p.S7206F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7208	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						TGTGGCTTTGGATGTCTCTGA	0.488000													74	90					0	0	0.003610	0	0
RXFP2	122042	broad.mit.edu	37	13	32376410	32376410	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:32376410G>A	ENST00000298386.2	+	18	2204	c.2133G>A	c.(2131-2133)agG>agA	p.R711R	RXFP2_ENST00000380314.1_Silent_p.R687R	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	711						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AACATCAGAGGAAATCAATTT	0.353000													48	60					0	0	0.003610	0	0
CEACAM18	729767	broad.mit.edu	37	19	51984888	51984888	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:51984888G>A	ENST00000396477.4	+	3	663	c.642G>A	c.(640-642)caG>caA	p.Q214Q	CEACAM18_ENST00000451626.1_Silent_p.Q275Q	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	275						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGATCTTTCAGAGAAGTGAAC	0.522000													16	20					0	0	0.006122	0	0
C6orf165	154313	broad.mit.edu	37	6	88126407	88126407	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:88126407C>T	ENST00000507897.1	+	6	576	c.493C>T	c.(493-495)Cct>Tct	p.P165S	C6ORF165_ENST00000369562.4_Missense_Mutation_p.P165S			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	165										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GAGTGTTTTTCCTCAGGCAGA	0.328000													20	3					0	0	0.003330	0	0
ABLIM2	84448	broad.mit.edu	37	4	7994616	7994616	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:7994616C>T	ENST00000318888.4	-	16	1631	c.760G>A	c.(760-762)Gga>Aga	p.G254R	ABLIM2_ENST00000296372.8_Intron|ABLIM2_ENST00000505872.1_Missense_Mutation_p.G467R|ABLIM2_ENST00000514025.1_Missense_Mutation_p.G254R|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000545242.1_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.G553R|ABLIM2_ENST00000341937.5_Missense_Mutation_p.G519R|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000361581.5_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	519	LIM zinc-binding 4.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCATTCTTTCCATGTCCTGGG	0.562000													7	18					0	0	0.003080	0	0
TNS3	64759	broad.mit.edu	37	7	47454705	47454705	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:47454705G>A	ENST00000398879.1	-	11	939	c.573C>T	c.(571-573)ttC>ttT	p.F191F	TNS3_ENST00000355730.3_Silent_p.F191F|TNS3_ENST00000442536.2_Silent_p.F191F|TNS3_ENST00000458317.2_Silent_p.F191F|TNS3_ENST00000311160.9_Silent_p.F191F			Q68CZ2	TENS3_HUMAN	tensin 3	191	C2 tensin-type.					focal adhesion	protein binding	p.F191fs*10(2)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CACCTGTGTCGAAGTTGGGGG	0.572000													4	17					0	0	0.009096	0	0
CCDC150	284992	broad.mit.edu	37	2	197583330	197583330	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:197583330C>T	ENST00000389175.4	+	18	2105	c.1970C>T	c.(1969-1971)gCt>gTt	p.A657V	CCDC150_ENST00000409270.1_Missense_Mutation_p.A144V|CCDC150_ENST00000272831.7_Missense_Mutation_p.A304V	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	657										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GACCTCGAGGCTGTGGAGGAC	0.448000													27	39					0	0	0.008361	0	0
PJA1	64219	broad.mit.edu	37	X	68381536	68381536	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:68381536C>T	ENST00000361478.1	-	2	1923	c.1546G>A	c.(1546-1548)Gga>Aga	p.G516R	PJA1_ENST00000374571.4_Missense_Mutation_p.G461R|PJA1_ENST00000374584.3_Missense_Mutation_p.G328R|PJA1_ENST00000374583.1_Missense_Mutation_p.G516R	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	516							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TCTGCAAATCCATCAAAGAGG	0.502000													27	56					0	0	0.005443	0	0
TMEFF2	23671	broad.mit.edu	37	2	192815113	192815113	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:192815113C>T	ENST00000272771.5	-	10	2233	c.1049G>A	c.(1048-1050)aGa>aAa	p.R350K	AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000392314.1_3'UTR|AC098617.1_ENST00000428980.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	350						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TCTGTGAATTCTGTTGCTTCT	0.423000													48	39					0	0	0.003610	0	0
COL6A6	131873	broad.mit.edu	37	3	130282324	130282324	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:130282324G>A	ENST00000358511.6	+	2	508	c.477G>A	c.(475-477)gtG>gtA	p.V159V	COL6A6_ENST00000453409.2_Silent_p.V159V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	159	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAGACGGAGTGAAAATCATCT	0.493000													17	33					0	0	0.006122	0	0
STK31	56164	broad.mit.edu	37	7	23854762	23854762	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:23854762G>A	ENST00000354639.3	+	23	3155		c.e23-1		STK31_ENST00000405627.3_Splice_Site|STK31_ENST00000428484.1_Splice_Site|STK31_ENST00000433467.2_Intron|STK31_ENST00000355870.3_Splice_Site	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31								ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCTTTCACAGCTTTCTGTTC	0.358000													26	39					0	0	0.003954	0	0
KIAA1217	56243	broad.mit.edu	37	10	24816960	24816960	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:24816960C>T	ENST00000376451.2	+	9	2303	c.2043C>T	c.(2041-2043)atC>atT	p.I681I	KIAA1217_ENST00000376454.3_Silent_p.I998I|KIAA1217_ENST00000458595.1_Silent_p.I963I|KIAA1217_ENST00000376462.1_Silent_p.I918I|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000376452.3_Silent_p.I963I|KIAA1217_ENST00000396445.1_Silent_p.I681I|KIAA1217_ENST00000307544.6_Silent_p.I681I|KIAA1217_ENST00000396446.1_Silent_p.I681I			Q5T5P2	SKT_HUMAN	KIAA1217	998					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGCCAATATCATGAAGTCAA	0.478000													40	46					0	0	0.009718	0	0
POTEE	445582	broad.mit.edu	37	2	132020967	132020967	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:132020967G>A	ENST00000356920.5	+	15	2033	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	647							ATP binding										CGTCTTGCATGAAAATAGTAC	0.353000													29	25					0	0	0.003271	0	0
VEGFC	7424	broad.mit.edu	37	4	177608992	177608992	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:177608992G>A	ENST00000280193.2	-	5	1209	c.794C>T	c.(793-795)tCc>tTc	p.S265F	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	265					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		AGCATCCGAGGAAAACATAAA	0.413000													46	44					0	0	0.003610	0	0
DCLK1	9201	broad.mit.edu	37	13	36379876	36379876	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:36379876C>T	ENST00000255448.4	-	15	2115	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	DCLK1_ENST00000360631.3_Missense_Mutation_p.R635Q|DCLK1_ENST00000379893.1_Missense_Mutation_p.R328Q	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	635	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AGCAGAAAATCGCTGATCTAC	0.413000													52	63					0	0	0.003610	0	0
GAGE10	643832	broad.mit.edu	37	X	49161358	49161358	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:49161358C>T	ENST00000407599.3	+	2	113	c.20C>T	c.(19-21)tCg>tTg	p.S7L		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	7										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					CGAGGAAGATCGACCTATCGG	0.453000													161	224					0	0	0.003610	0	0
OR2H1	26716	broad.mit.edu	37	6	29429827	29429827	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:29429827G>A	ENST00000377136.1	+	4	746	c.281G>A	c.(280-282)gGa>gAa	p.G94E	OR2H1_ENST00000377133.1_Missense_Mutation_p.G94E|OR2H1_ENST00000396792.2_Missense_Mutation_p.G94E|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Missense_Mutation_p.G94E|OR2H1_ENST00000377132.1_Missense_Mutation_p.G94E			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						AGCTTCCTGGGATGCTCTGTC	0.567000													32	73					0	0	0.003271	0	0
NFASC	23114	broad.mit.edu	37	1	204943867	204943867	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:204943867C>T	ENST00000367172.4	+	14	1802	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C	NFASC_ENST00000404076.1_Missense_Mutation_p.R486C|NFASC_ENST00000539706.1_Missense_Mutation_p.R503C|NFASC_ENST00000513543.1_Missense_Mutation_p.R503C|NFASC_ENST00000403080.1_Missense_Mutation_p.R492C|NFASC_ENST00000367171.4_Missense_Mutation_p.R492C|NFASC_ENST00000338515.6_Missense_Mutation_p.R492C|NFASC_ENST00000360049.4_Missense_Mutation_p.R503C|NFASC_ENST00000367170.4_Missense_Mutation_p.R492C|NFASC_ENST00000338586.6_Missense_Mutation_p.R492C|NFASC_ENST00000367169.4_Missense_Mutation_p.R492C|NFASC_ENST00000339876.6_Missense_Mutation_p.R492C|NFASC_ENST00000401399.1_Missense_Mutation_p.R492C|NFASC_ENST00000404907.1_Missense_Mutation_p.R503C			O94856	NFASC_HUMAN	neurofascin	492	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.R492S(2)|p.R503C(1)|p.R503S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TAAGATGATCCGCAAAGAGGA	0.507000													181	7					0	0	0.003610	0	0
SLC26A3	1811	broad.mit.edu	37	7	107420173	107420173	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:107420173C>T	ENST00000340010.5	-	12	1531	c.1347G>A	c.(1345-1347)aaG>aaA	p.K449K	SLC26A3_ENST00000422236.2_Silent_p.K414K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	449					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCAGCATTCCCTTTAAGTTTC	0.383000													35	18					0	0	0.007835	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524285	73524285	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:73524285C>T	ENST00000339534.2	+	1	261	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	62							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GAACTGTGTCCTTCTCGGAAA	0.517000													21	35					0	0	0.002299	0	0
EIF3L	51386	broad.mit.edu	37	22	38273863	38273863	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:38273863C>T	ENST00000412331.2	+	11	1842	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	EIF3L_ENST00000381683.6_Silent_p.F372F|EIF3L_ENST00000406934.1_Silent_p.F322F	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	420						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.F420F(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCCCCAAGTTCCTGTCGCCTG	0.502000													31	29					0	0	0.002096	0	0
MROH2B	133558	broad.mit.edu	37	5	41065475	41065475	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:41065475C>T	ENST00000399564.4	-	4	769	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ACAACGAATTCATCTGGTAGC	0.418000													12	13					0	0	0.001368	0	0
UGT2B7	7364	broad.mit.edu	37	4	69964335	69964335	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:69964335C>T	ENST00000305231.7	+	2	845	c.799C>T	c.(799-801)Cca>Tca	p.P267S	UGT2B7_ENST00000508661.1_Missense_Mutation_p.P267S|UGT2B7_ENST00000509763.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	267					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTTCAGTTTCCATATCCACT	0.393000													57	132					0	0	0.003610	0	0
KCTD5	54442	broad.mit.edu	37	16	2732687	2732687	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:2732687C>T	ENST00000301738.4	+	1	212	c.138C>T	c.(136-138)gtC>gtT	p.V46V	KCTD5_ENST00000564195.1_Silent_p.V46V	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	46	BTB.				interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						CCAAGTGGGTCCGACTCAACG	0.726000													15	16					0	0	0.004007	0	0
HR	55806	broad.mit.edu	37	8	21976782	21976782	+	Missense_Mutation	SNP	G	G	A	rs150573552		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:21976782G>A	ENST00000381418.4	-	15	4472	c.2992C>T	c.(2992-2994)Cgg>Tgg	p.R998W	HR_ENST00000312841.8_Missense_Mutation_p.R998W	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	998	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGTGTCCCCGGTGCGGGCTC	0.602000													10	10					0	0	0.000978	0	0
ZNF212	7988	broad.mit.edu	37	7	148950696	148950696	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:148950696C>T	ENST00000335870.2	+	5	806	c.678C>T	c.(676-678)ggC>ggT	p.G226G		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CACAGGAAGGCCCTGCGGATC	0.507000													70	35					0	0	0.003610	0	0
OR5P3	120066	broad.mit.edu	37	11	7847181	7847181	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:7847181G>A	ENST00000328375.1	-	1	338	c.339C>T	c.(337-339)ttC>ttT	p.F113F	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGCCAGCAGGAAGCACTCGG	0.547000													42	54					0	0	0.003214	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32610394	32610394	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32610394G>A	ENST00000343139.5	+	4	723	c.621G>A	c.(619-621)gaG>gaA	p.E207E	HLA-DQA1_ENST00000395363.1_Silent_p.E207E|HLA-DQA1_ENST00000374949.2_Silent_p.E207E	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	206	Connecting peptide.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAGAGCCTGAGATTCCAGCCC	0.547000													8	31					0	0	0.001368	0	0
MDC1	9656	broad.mit.edu	37	6	30670992	30670992	+	Silent	SNP	A	A	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:30670992A>G	ENST00000376406.3	-	12	6401	c.5754T>C	c.(5752-5754)ggT>ggC	p.G1918G	MDC1_ENST00000376405.2_Silent_p.G1654G|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1918	BRCT 1.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTGCCGCTGAACCAGCCAGAC	0.627000								Other conserved DNA damage response genes					15	45					0	0	0.002450	0	0
DNAH5	1767	broad.mit.edu	37	5	13841969	13841969	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:13841969C>T	ENST00000265104.4	-	33	5420	c.5316G>A	c.(5314-5316)acG>acA	p.T1772T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1772	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAATTCAATCGTCTCACCCT	0.353000									Kartagener syndrome				25	50					0	0	0.006320	0	0
OR10G3	26533	broad.mit.edu	37	14	22038829	22038829	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:22038829C>T	ENST00000303532.1	-	1	46	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		ATACGGAATTCCTGTCAGGAT	0.398000													18	18					0	0	0.008871	0	0
GLYCTK	132158	broad.mit.edu	37	3	52326770	52326770	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:52326770C>T	ENST00000436784.2	+	5	1260	c.1200C>T	c.(1198-1200)ggC>ggT	p.G400G	GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000354773.4_3'UTR|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_3'UTR			Q8IVS8	GLCTK_HUMAN	glycerate kinase	400					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GGGGAAGGGGCCCAGTCTGCC	0.647000													25	22					0	0	0.004656	0	0
BCMO1	53630	broad.mit.edu	37	16	81279168	81279168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:81279168C>T	ENST00000425577.2	+	2	373	c.76C>T	c.(76-78)Cga>Tga	p.R26*	BCMO1_ENST00000258168.2_Silent_p.F51F|BCMO1_ENST00000564552.1_Silent_p.F51F			Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	0					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACCATTGGTTCGACGGCCTTG	0.577000													38	48					0	0	0.009718	0	0
KIAA0100	9703	broad.mit.edu	37	17	26958672	26958672	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:26958672G>A	ENST00000528896.2	-	23	4198	c.4124C>T	c.(4123-4125)tCt>tTt	p.S1375F	KIAA0100_ENST00000544884.1_Missense_Mutation_p.S1232F|KIAA0100_ENST00000389003.3_Missense_Mutation_p.S1232F	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1375						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACTCCAATCAGAGATAAGGCG	0.522000													18	18					0	0	0.006122	0	0
SF3A2	8175	broad.mit.edu	37	19	2247835	2247835	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:2247835G>A	ENST00000221494.4	+	9	1103	c.685G>A	c.(685-687)Ggg>Agg	p.G229R		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	229	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCCCCCTGGGGTGAAGCG	0.667000													29	20					0	0	0.009535	0	0
THSD7B	80731	broad.mit.edu	37	2	137928483	137928483	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr2:137928483G>A	ENST00000409968.1	+	7	1876	c.1698G>A	c.(1696-1698)ctG>ctA	p.L566L	THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Silent_p.L535L|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.L566L					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)		ATCGTATTCTGAAGGCCGTCT	0.493000													11	14					0	0	0.001855	0	0
GLIS3	169792	broad.mit.edu	37	9	3932396	3932396	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr9:3932396C>T	ENST00000324333.10	-	5	1675	c.1482G>A	c.(1480-1482)aaG>aaA	p.K494K	GLIS3_ENST00000381971.3_Silent_p.K649K|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	494					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AAGAATGTGCCTTCACATGCT	0.378000													52	57					0	0	0.003610	0	0
GPR61	83873	broad.mit.edu	37	1	110086229	110086229	+	Silent	SNP	T	T	C			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:110086229T>C	ENST00000527748.1	+	2	1268	c.585T>C	c.(583-585)tgT>tgC	p.C195C	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	195						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCCCAGGCTGTTCACTCCAGT	0.572000													63	0					0	0	0.003610	0	0
NPTX2	4885	broad.mit.edu	37	7	98256594	98256594	+	Missense_Mutation	SNP	G	G	A	rs141241960		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:98256594G>A	ENST00000265634.3	+	4	1171	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	336	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.E336K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCACTGGGGAGAACCTGGC	0.642000													10	32					0	0	0.000978	0	0
NPAS4	266743	broad.mit.edu	37	11	66192549	66192549	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:66192549G>A	ENST00000311034.2	+	7	2364	c.2188G>A	c.(2188-2190)Gat>Aat	p.D730N		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	730					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGCTCAGGGGATCCTGAGGC	0.592000													21	23					0	0	0.002299	0	0
CACNA1E	777	broad.mit.edu	37	1	181702848	181702848	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:181702848C>T	ENST00000526775.1	+	20	3332	c.3167C>T	c.(3166-3168)cCc>cTc	p.P1056L	CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1075L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1056L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1007L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1026L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P682L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1075L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1075					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTCGCCATCCCCGACGTGGAC	0.652000													11	44					0	0	0.001855	0	0
SCGB2B2	284402	broad.mit.edu	37	19	35085245	35085245	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr19:35085245G>A	ENST00000601241.1	-	3	2181	c.81C>T	c.(79-81)atC>atT	p.I27I	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Silent_p.I27I			Q4G0G5	SCGBL_HUMAN	secretoglobin, family 2B, member 2	27						extracellular region	binding										GCAGTTTATCGATATCCAGGC	0.517000													39	32					0	0	0.002522	0	0
POMK	84197	broad.mit.edu	37	8	42977840	42977840	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:42977840C>T	ENST00000331373.5	+	5	1128	c.873C>T	c.(871-873)ttC>ttT	p.F291F		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		291	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										TCTCCAGTTTCCTTCTGGGGC	0.483000													24	39					0	0	0.003330	0	0
MYCBP2	23077	broad.mit.edu	37	13	77642739	77642739	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr13:77642739G>A	ENST00000407578.2	-	70	12398	c.12132C>T	c.(12130-12132)ttC>ttT	p.F4044F	MYCBP2_ENST00000357337.6_Silent_p.F4006F|MYCBP2_ENST00000544440.2_Silent_p.F4006F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4006					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAAGCAGCGAGAAGAGATCCT	0.473000													19	22					0	0	0.006122	0	0
UTP20	27340	broad.mit.edu	37	12	101750436	101750436	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:101750436C>T	ENST00000261637.4	+	42	5673	c.5499C>T	c.(5497-5499)tcC>tcT	p.S1833S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1833					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TAATGCAGTCCCTTCCACAAG	0.363000													15	22					0	0	0.006122	0	0
C8orf76	84933	broad.mit.edu	37	8	124243746	124243746	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:124243746G>A	ENST00000276704.4	-	4	660	c.609C>T	c.(607-609)tcC>tcT	p.S203S	ZHX1-C8ORF76_ENST00000357082.4_Silent_p.S171S|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	203							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTGGAAAGAAGGATTTGATAG	0.448000													45	59					0	0	0.002522	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169986	32169986	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32169986G>A	ENST00000375023.3	-	21	3760	c.3622C>T	c.(3622-3624)Cca>Tca	p.P1208S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1208					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGGGGTCTGGGACTCCCAGA	0.637000													182	111					0	0	0.003610	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801035	24801035	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr16:24801035C>T	ENST00000395799.3	+	6	1201	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P358S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	358	Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AGGGTTAAATCCAAGCACTTT	0.453000													36	64					0	0	0.008740	0	0
MYBPC1	4604	broad.mit.edu	37	12	102025435	102025435	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:102025435G>A	ENST00000549145.1	+	6	440	c.340G>A	c.(340-342)Gac>Aac	p.D114N	MYBPC1_ENST00000360610.2_Missense_Mutation_p.D101N|MYBPC1_ENST00000361685.2_Missense_Mutation_p.D126N|MYBPC1_ENST00000541119.1_Missense_Mutation_p.D89N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.D101N|MYBPC1_ENST00000536007.1_Missense_Mutation_p.D101N|MYBPC1_ENST00000553190.1_Missense_Mutation_p.D101N|MYBPC1_ENST00000392934.3_Missense_Mutation_p.D88N|MYBPC1_ENST00000547405.1_Missense_Mutation_p.D75N|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.D101N|MYBPC1_ENST00000551300.1_Missense_Mutation_p.D2N|MYBPC1_ENST00000441232.1_Missense_Mutation_p.D101N|MYBPC1_ENST00000547509.1_Missense_Mutation_p.D87N|MYBPC1_ENST00000361466.2_Missense_Mutation_p.D126N|MYBPC1_ENST00000545503.2_Missense_Mutation_p.D101N			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	101	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAAATGGATGGACCTGGCCAG	0.498000													36	53					0	0	0.004289	0	0
LOC728554	728554	broad.mit.edu	37	5	177310974	177310974	+	RNA	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:177310974C>T	ENST00000506672.1	+	0	1271					NR_003615.2																						CTGCGCATTTCGTTCTTTTGC	0.463000													5	3					0	0	0.000602	0	0
ZFP41	286128	broad.mit.edu	37	8	144332213	144332213	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:144332213C>T	ENST00000330701.4	+	2	569	c.200C>T	c.(199-201)tCa>tTa	p.S67L	ZFP41_ENST00000520584.1_Missense_Mutation_p.S67L|ZFP41_ENST00000522452.1_Missense_Mutation_p.S67L	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	67					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TTCGACGCTTCATTTAAAGAT	0.527000													18	31					0	0	0.010504	0	0
EXPH5	23086	broad.mit.edu	37	11	108382077	108382077	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:108382077C>T	ENST00000265843.4	-	6	4267	c.4157G>A	c.(4156-4158)gGc>gAc	p.G1386D	EXPH5_ENST00000525344.1_Missense_Mutation_p.G1379D|EXPH5_ENST00000428840.1_Missense_Mutation_p.G1310D|EXPH5_ENST00000443411.1_Missense_Mutation_p.G1198D	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1386					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CAACTTTTTGCCTCTTTCCTT	0.343000													21	3					0	0	0.002780	0	0
SP2	6668	broad.mit.edu	37	17	45994184	45994184	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:45994184G>A	ENST00000376741.4	+	3	884	c.747G>A	c.(745-747)aaG>aaA	p.K249K	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	249					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						AAGCAAGGAAGAAGAGCCTTC	0.582000													49	43					0	0	0.003610	0	0
STAB1	23166	broad.mit.edu	37	3	52537381	52537381	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:52537381C>T	ENST00000321725.6	+	8	792	c.716C>T	c.(715-717)tCa>tTa	p.S239L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	239	EGF-like 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGCTGGCCATCACCCTGCTCA	0.652000													12	10					0	0	0.001855	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142614	5142614	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5142614G>A	ENST00000498233.1	-	0	784																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGCCAGGAAGATATACATGG	0.418000													23	28					0	0	0.003330	0	0
PDE8B	8622	broad.mit.edu	37	5	76715632	76715632	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:76715632G>A	ENST00000264917.5	+	19	2215	c.2170G>A	c.(2170-2172)Gtt>Att	p.V724I	PDE8B_ENST00000333194.4_Missense_Mutation_p.V669I|PDE8B_ENST00000342343.4_Missense_Mutation_p.V704I|PDE8B_ENST00000346042.3_Missense_Mutation_p.V627I|PDE8B_ENST00000340978.3_Missense_Mutation_p.V677I|PDE8B_ENST00000505283.1_Missense_Mutation_p.V189I	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	724	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TATTGACATGGTTTTGGCAAC	0.418000													261	267					0	0	0.003610	0	0
C1orf63	57035	broad.mit.edu	37	1	25573264	25573264	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:25573264G>A	ENST00000243189.7	-	2	467	c.191C>T	c.(190-192)tCc>tTc	p.S64F	C1orf63_ENST00000417642.2_Missense_Mutation_p.S57F|C1orf63_ENST00000431849.2_Missense_Mutation_p.S64F	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	64	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCGGGAACGGGACCTGGACTT	0.657000													52	4					0	0	0.003610	0	0
DDX4	54514	broad.mit.edu	37	5	55109503	55109503	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:55109503G>A	ENST00000505374.1	+	19	1710	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	DDX4_ENST00000354991.5_Missense_Mutation_p.D506N|DDX4_ENST00000353507.5_Missense_Mutation_p.D506N|DDX4_ENST00000511853.1_Missense_Mutation_p.D391N|DDX4_ENST00000514278.2_Missense_Mutation_p.D520N	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	540	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TCTTGTAGGGGATGAAAGAAC	0.313000													77	109					0	0	0.003610	0	0
IPO11	51194	broad.mit.edu	37	5	61763082	61763082	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:61763082C>T	ENST00000325324.6	+	6	810	c.641C>T	c.(640-642)tCa>tTa	p.S214L	IPO11_ENST00000409296.3_Missense_Mutation_p.S254L|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	214						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		ACACTGCTATCATTGAAAGGT	0.403000													40	50					0	0	0.002852	0	0
POF1B	79983	broad.mit.edu	37	X	84561243	84561243	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:84561243C>T	ENST00000262753.4	-	12	1406	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	POF1B_ENST00000373145.3_Missense_Mutation_p.E421K	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	421							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TATTCCAGTTCTTTTAGTCTG	0.338000													42	59					0	0	0.002522	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178634556	178634556	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:178634556C>T	ENST00000251582.7	-	4	950	c.849G>A	c.(847-849)ggG>ggA	p.G283G	ADAMTS2_ENST00000274609.5_Silent_p.G283G	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	283	Peptidase M12B.				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)		CGTGCTCCTTCCCGTGGAACT	0.632000													57	44					0	0	0.003610	0	0
MED12L	116931	broad.mit.edu	37	3	150876497	150876497	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:150876497G>A	ENST00000474524.1	+	6	786	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	MED12L_ENST00000422248.2_Missense_Mutation_p.E250K|MED12L_ENST00000309237.4_Missense_Mutation_p.E250K|MED12L_ENST00000273432.4_Missense_Mutation_p.E250K	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	250					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGAAAAACACGAATATTTGAC	0.308000													12	22					0	0	0.001368	0	0
MARK3	4140	broad.mit.edu	37	14	103918266	103918266	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:103918266G>A	ENST00000429436.2	+	5	868	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000335102.5_Missense_Mutation_p.E120K|MARK3_ENST00000553942.1_Missense_Mutation_p.E120K|MARK3_ENST00000416682.2_Missense_Mutation_p.E120K|MARK3_ENST00000440884.3_Missense_Mutation_p.E120K|MARK3_ENST00000303622.9_Missense_Mutation_p.E120K|MARK3_ENST00000216288.7_Missense_Mutation_p.E120K	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	120	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.E120K(4)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GAAGTTATTCGAAGTCATTGA	0.353000													78	101					0	0	0.003610	0	0
DCC	1630	broad.mit.edu	37	18	50278518	50278518	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:50278518C>T	ENST00000442544.2	+	2	802	c.186C>T	c.(184-186)tcC>tcT	p.S62S		NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	62	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCGACTGCTCCGCGGAGTCCG	0.502000													20	21					0	0	0.008871	0	0
EEF1D	1936	broad.mit.edu	37	8	144672304	144672304	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:144672304G>A	ENST00000532741.1	-	1	326	c.98C>T	c.(97-99)cCc>cTc	p.P33L	EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000423316.2_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000442189.2_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000529272.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CAACACAGCGGGTGGCCGCAG	0.677000													6	5					0	0	0.001168	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83320119	83320119	+	Splice_Site	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:83320119C>T	ENST00000262752.2	-	21	1979	c.1971_splice	c.e21-1	p.D658_splice	RPS6KA6_ENST00000543399.1_Splice_Site_p.D658_splice	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	658	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GAAAGCAAATCCTAAATTAAA	0.338000													20	28					0	0	0.001882	0	0
IGHG4	3503	broad.mit.edu	37	14	106092377	106092377	+	RNA	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:106092377G>A	ENST00000390543.2	-	0	26																											GCGCCAGGGGGAAGACCGATG	0.672000													7	9					0	0	0.003080	0	0
NOC2L	26155	broad.mit.edu	37	1	892513	892513	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:892513T>G	ENST00000327044.6	-	3	369	c.320A>C	c.(319-321)gAg>gCg	p.E107A	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	107	Poly-Glu.					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GAACGGCCCCTCTTCCTCCTC	0.582000													43	63					0	0	0.002852	0	0
THBS1	7057	broad.mit.edu	37	15	39882038	39882038	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:39882038G>A	ENST00000260356.5	+	13	2124	c.1959G>A	c.(1957-1959)ggG>ggA	p.G653G		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	653	EGF-like 3.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCACGGATGGGACCCACGACT	0.547000													11	17					0	0	0.001855	0	0
TACR3	6870	broad.mit.edu	37	4	104577402	104577402	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:104577402G>A	ENST00000304883.2	-	3	977	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	279						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TATCTCCTGGGATTTCTCCTC	0.403000													47	52					0	0	0.003610	0	0
SPINK5	11005	broad.mit.edu	37	5	147469114	147469114	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr5:147469114G>A	ENST00000359874.3	+	7	605	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	SPINK5_ENST00000398454.1_Missense_Mutation_p.E178K|SPINK5_ENST00000256084.7_Missense_Mutation_p.E178K	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	178	Kazal-like 3.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCACAAGGGAAAATGATCC	0.448000													33	52					0	0	0.003271	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58306061	58306061	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr15:58306061G>A	ENST00000249750.4	-	3	1125	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F	ALDH1A2_ENST00000559517.1_Missense_Mutation_p.L24F|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.L120F|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.L91F|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.L99F	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	120					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CTTACTGCAAGAACTGCCCTG	0.403000													146	171					0	0	0.003610	0	0
PLCD1	5333	broad.mit.edu	37	3	38049305	38049305	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:38049305G>A	ENST00000463876.1	-	15	2646	c.2293C>T	c.(2293-2295)Cca>Tca	p.P765S	PLCD1_ENST00000334661.4_Missense_Mutation_p.P744S	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	744					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GTGGCTGATGGATGCTGGTCC	0.612000													7	10					0	0	0.006214	0	0
SEC31A	22872	broad.mit.edu	37	4	83772734	83772734	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:83772734G>A	ENST00000432794.1	-	19	2341	c.2178C>T	c.(2176-2178)atC>atT	p.I726I	SEC31A_ENST00000395310.2_Silent_p.I726I|SEC31A_ENST00000355196.2_Silent_p.I726I|SEC31A_ENST00000505472.1_Silent_p.I726I|SEC31A_ENST00000500777.2_Silent_p.I687I|SEC31A_ENST00000448323.1_Silent_p.I726I|SEC31A_ENST00000348405.4_Silent_p.I687I|SEC31A_ENST00000326950.5_Silent_p.I687I|SEC31A_ENST00000311785.7_Silent_p.I726I|SEC31A_ENST00000513858.1_Silent_p.I687I|SEC31A_ENST00000443462.2_Silent_p.I721I|SEC31A_ENST00000264405.5_Silent_p.I459I|SEC31A_ENST00000508479.1_Silent_p.I726I|SEC31A_ENST00000509142.1_Silent_p.I726I|SEC31A_ENST00000508502.1_Silent_p.I726I|SEC31A_ENST00000505984.1_Silent_p.I687I			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	726					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CTTTTCGCAGGATGACAACTT	0.413000													16	24					0	0	0.004990	0	0
ANKRD22	118932	broad.mit.edu	37	10	90591670	90591670	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:90591670G>A	ENST00000371930.4	-	2	345	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	45										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TGCAAGCACAGATCAGGGGCG	0.473000													113	128					0	0	0.003610	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141958	133141958	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:133141958C>T	ENST00000388996.4	-	15	2590	c.2170G>A	c.(2170-2172)Gga>Aga	p.G724R	KCNQ3_ENST00000521134.1_Missense_Mutation_p.G604R|KCNQ3_ENST00000519445.1_Missense_Mutation_p.G712R	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	724					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GAACTGGGTCCCCCTCGGGGC	0.577000													18	20					0	0	0.006122	0	0
DMD	1756	broad.mit.edu	37	X	31645817	31645817	+	Silent	SNP	T	T	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chrX:31645817T>A	ENST00000357033.4	-	55	8396	c.8190A>T	c.(8188-8190)ggA>ggT	p.G2730G	DMD_ENST00000359836.1_Silent_p.G270G|DMD_ENST00000378707.3_Silent_p.G270G|DMD_ENST00000343523.2_Silent_p.G270G|DMD_ENST00000541735.1_Silent_p.G270G|DMD_ENST00000474231.1_Silent_p.G270G|DMD_ENST00000378677.2_Silent_p.G2726G	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2730					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTCTTTTACTCCCTTGGAGT	0.438000													9	24					0	0	0.000978	0	0
WIF1	11197	broad.mit.edu	37	12	65471619	65471619	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:65471619C>T	ENST00000286574.4	-	3	678	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	102	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GACAGGAATTCATAGAAGTAT	0.512000			T	HMGA2	pleomorphic salivary gland adenoma								19	17					0	0	0.002299	0	0
UNC5D	137970	broad.mit.edu	37	8	35406841	35406841	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr8:35406841C>T	ENST00000287272.2	+	2	155	c.135C>T	c.(133-135)tcC>tcT	p.S45S	UNC5D_ENST00000453357.2_Silent_p.S40S|UNC5D_ENST00000420357.1_Silent_p.S45S|UNC5D_ENST00000416672.1_Silent_p.S45S|UNC5D_ENST00000404895.2_Silent_p.S45S			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	45					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTCCCGAATCCATCCCATCAG	0.473000													32	35					0	0	0.003271	0	0
GHRHR	2692	broad.mit.edu	37	7	31014598	31014598	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:31014598G>A	ENST00000409316.1	+	6	561	c.124G>A	c.(124-126)Gga>Aga	p.G42R	GHRHR_ENST00000326139.2_Silent_p.L275L|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Silent_p.L211L			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	0					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GCTGGGACCTGGACGACACCT	0.577000											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	118					0	0	0.009718	0	0
MYOM1	8736	broad.mit.edu	37	18	3129437	3129437	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:3129437C>T	ENST00000356443.4	-	18	2920	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	MYOM1_ENST00000400569.3_Missense_Mutation_p.E863K|MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	863						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGGGAGGCTTCATGCACGCGC	0.557000											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	67	67					0	0	0.003610	0	0
TRIM6	117854	broad.mit.edu	37	11	5626672	5626672	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:5626672G>A	ENST00000380097.3	+	4	951	c.709G>A	c.(709-711)Gag>Aag	p.E237K	TRIM6_ENST00000445329.1_Missense_Mutation_p.E34K|TRIM6_ENST00000507320.1_Missense_Mutation_p.E34K|TRIM6_ENST00000506134.1_Missense_Mutation_p.E34K|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.E237K|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000278302.5_Missense_Mutation_p.E209K|TRIM6_ENST00000380107.1_Missense_Mutation_p.E183K|TRIM6_ENST00000515022.1_Missense_Mutation_p.E34K	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGAACAGGAAGAGAAGAAGGG	0.512000											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	29	42					0	0	0.007291	0	0
PLCB4	5332	broad.mit.edu	37	20	9317854	9317854	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr20:9317854G>A	ENST00000378501.2	+	2	180		c.e2+1		PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000378493.1_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4						intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAAGGCAAGGTATGGCCCAA	0.418000													25	32					0	0	0.005443	0	0
LTBP2	4053	broad.mit.edu	37	14	74975335	74975335	+	Silent	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr14:74975335G>A	ENST00000261978.4	-	24	4010	c.3624C>T	c.(3622-3624)gtC>gtT	p.V1208V	LTBP2_ENST00000556690.1_Silent_p.V1208V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1208	Cys-rich.|EGF-like 12; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCTCTGCGCTGACGAAGCCAG	0.627000													12	19					0	0	0.001368	0	0
WAC	51322	broad.mit.edu	37	10	28897159	28897159	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr10:28897159C>T	ENST00000375664.3	+	8	1438	c.829C>T	c.(829-831)Cct>Tct	p.P277S	WAC_ENST00000375646.1_Missense_Mutation_p.P174S|WAC_ENST00000347934.4_Missense_Mutation_p.P219S|WAC_ENST00000354911.4_Missense_Mutation_p.P322S|WAC_ENST00000428935.1_Missense_Mutation_p.P277S			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	322					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TTGCACAACTCCTTCCACGTC	0.448000													44	56					0	0	0.003610	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475367	52475367	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr3:52475367C>T	ENST00000231721.2	-	7	725	c.726G>A	c.(724-726)aaG>aaA	p.K242K		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	242	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AGAAGTACACCTTGTCATTGT	0.627000													7	17					0	0	0.001984	0	0
DNAH9	1770	broad.mit.edu	37	17	11671865	11671865	+	Silent	SNP	C	C	T			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:11671865C>T	ENST00000262442.3	+	37	7334	c.7266C>T	c.(7264-7266)atC>atT	p.I2422I	DNAH9_ENST00000454412.2_Silent_p.I2422I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2422					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)		ACTATTACATCGACCCAGAGA	0.522000													26	39					0	0	0.007291	0	0
ITGB4	3691	broad.mit.edu	37	17	73727450	73727450	+	Splice_Site	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr17:73727450G>A	ENST00000200181.3	+	10	1402		c.e10+1		ITGB4_ENST00000449880.2_Splice_Site|ITGB4_ENST00000339591.3_Splice_Site|ITGB4_ENST00000584558.1_Splice_Site|ITGB4_ENST00000579662.1_Splice_Site|ITGB4_ENST00000450894.3_Splice_Site	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4						cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGGAAGTGGTACGCCTCTG	0.642000													20	31					0	0	0.003954	0	0
DCDC1	341019	broad.mit.edu	37	11	31123807	31123807	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:31123807G>A	ENST00000597505.1	-	13	1899	c.1900C>T	c.(1900-1902)Cca>Tca	p.P634S	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AAATTAATTGGAAATCCCTCA	0.308000													3	7					0	0	0.004672	0	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	RNA	INS	-	-	TT	rs57730437		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:121137698_121137699insTT	ENST00000437515.1	-	0	329																											CTACTTACATCTTTTTGTCTTT	0.441													7	47	---	---	---	---					
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gct>g	p.EA716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.E716delE(1)		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)		GATTCTGGAGCCTCCTCCTCCTC	0.626													10	79	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79373459	79373460	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr4:79373459_79373460delAA	ENST00000264895.6	+	47	7154_7155	c.6714_6715delAA	c.(6712-6717)agtcfs	p.RI2238fs		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2237					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGATCTACAGAATCACCAGACA	0.460													19	18	---	---	---	---					
TNXB	7148	broad.mit.edu	37	6	32063513	32063514	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr6:32063513_32063514delAC	ENST00000375244.3	-	3	2317_2318	c.2116_2117delGT	c.(2116-2118)afs	p.V706fs	TNXB_ENST00000479795.1_Frame_Shift_Del_p.V706fs|TNXB_ENST00000375247.2_Frame_Shift_Del_p.V706fs			P22105	TENX_HUMAN	tenascin XB	706	EGF-like 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAAGCCCTCTACACACACACAC	0.668													11	342	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284886	38284887	+	RNA	DEL	GT	GT	-	rs73692143		TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:38284886_38284887delGT	ENST00000436911.2	-	0	330																											ATTTGTCAAGgtgtgtgtgtgt	0.391													7	149	---	---	---	---					
DPY19L2P2	349152	broad.mit.edu	37	7	102850713	102850713	+	RNA	DEL	C	C	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr7:102850713delC	ENST00000312132.4	-	0	3393																											GATATAATTACCTTAGATAAA	0.254													9	9	---	---	---	---					
USP35	57558	broad.mit.edu	37	11	77921051	77921053	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr11:77921051_77921053delAGA	ENST00000529308.1	+	10	2411_2413	c.2150_2152delAGA	c.(2149-2154)gag>g	p.EK717del	USP35_ENST00000526425.1_In_Frame_Del_p.EK448del|USP35_ENST00000441408.2_In_Frame_Del_p.EK303del|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_In_Frame_Del_p.EK285del	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	717					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			gaggaagaagagaaggtggagaa	0.591													14	11	---	---	---	---					
ASUN	55726	broad.mit.edu	37	12	27089698	27089705	+	Frame_Shift_Del	DEL	AACAAACA	AACAAACA	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr12:27089698_27089705delAACAAACA	ENST00000261191.7	-	2	568_575	c.32_39delTGTTTGTT	c.(31-39)gfs	p.VFV11fs	ASUN_ENST00000539625.1_Intron	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	11					cell division|mitosis|regulation of mitotic cell cycle		protein binding										AGTGATCCACAACAAACACTGTTTTATG	0.365													8	27	---	---	---	---					
SERPINB2	5055	broad.mit.edu	37	18	61564981	61564982	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr18:61564981_61564982insA	ENST00000457692.1	+	6	771_772	c.438_439insA	c.(436-441)caaatafs	p.I147fs	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Frame_Shift_Ins_p.I147fs	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	147					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GACTCTGTCAGAAATATTACTC	0.376													39	52	---	---	---	---					
POFUT2	23275	broad.mit.edu	37	21	46707783	46707783	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr21:46707783delC	ENST00000331343.7	-	1	30	c.4delG	c.(4-6)cgfs	p.A2fs	POFUT2_ENST00000349485.5_Frame_Shift_Del_p.A2fs	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	2					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		CTGAGTGTCGCCATGGCCCCG	0.716													2	4	---	---	---	---					
LGALS2	3957	broad.mit.edu	37	22	37967935	37967935	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FS-A1ZZ-06A-11D-A197-08	TCGA-FS-A1ZZ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e371e0ec-1c86-4cc2-922a-ab7b07ebce63	24788398-b611-4cfa-877c-539ab2224df8	g.chr22:37967935delC	ENST00000215886.4	-	2	184	c.10delG	c.(10-12)aafs	p.E4fs		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	4	Galectin.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					ACCTCAAGTTCCCCCTGGGCC	0.547													27	49	---	---	---	---